MUS81
Basic information
Region (hg38): 11:65857126-65867653
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MUS81 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 4 | |||||
missense | 34 | 38 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 1 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 35 | 4 | 4 |
Variants in MUS81
This is a list of pathogenic ClinVar variants found in the MUS81 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-65860787-C-A | not specified | Uncertain significance (Nov 18, 2022) | ||
11-65860796-G-T | not specified | Uncertain significance (Mar 20, 2023) | ||
11-65860853-C-G | not specified | Uncertain significance (Dec 21, 2022) | ||
11-65860872-G-T | not specified | Uncertain significance (Oct 09, 2024) | ||
11-65860979-C-T | not specified | Uncertain significance (Apr 25, 2023) | ||
11-65861001-T-C | not specified | Uncertain significance (Dec 17, 2021) | ||
11-65861004-C-T | not specified | Uncertain significance (Mar 30, 2024) | ||
11-65861353-A-G | not specified | Uncertain significance (Oct 08, 2024) | ||
11-65861355-C-G | not specified | Uncertain significance (Jun 07, 2023) | ||
11-65861362-C-T | not specified | Uncertain significance (Jul 14, 2023) | ||
11-65861386-G-A | not specified | Uncertain significance (Dec 03, 2024) | ||
11-65861425-C-G | not specified | Uncertain significance (Aug 17, 2021) | ||
11-65861951-C-T | not specified | Uncertain significance (Jan 10, 2023) | ||
11-65861996-G-A | not specified | Uncertain significance (Feb 15, 2023) | ||
11-65861996-G-C | not specified | Uncertain significance (Sep 04, 2024) | ||
11-65862035-G-A | not specified | Likely benign (Jan 05, 2022) | ||
11-65862278-G-C | not specified | Uncertain significance (Jul 02, 2024) | ||
11-65862448-C-A | not specified | Uncertain significance (Jul 19, 2023) | ||
11-65862481-G-A | not specified | Uncertain significance (Apr 01, 2024) | ||
11-65863079-C-T | not specified | Uncertain significance (Nov 03, 2023) | ||
11-65863082-A-G | not specified | Uncertain significance (Mar 19, 2024) | ||
11-65863166-G-A | not specified | Uncertain significance (Oct 17, 2023) | ||
11-65863451-G-A | not specified | Uncertain significance (Mar 16, 2024) | ||
11-65863604-G-A | not specified | Uncertain significance (Jan 05, 2022) | ||
11-65863637-C-T | not specified | Uncertain significance (Jul 20, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
MUS81 | protein_coding | protein_coding | ENST00000308110 | 16 | 10528 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
8.85e-13 | 0.673 | 125655 | 0 | 93 | 125748 | 0.000370 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.0565 | 331 | 334 | 0.991 | 0.0000194 | 3444 |
Missense in Polyphen | 65 | 81.122 | 0.80126 | 873 | ||
Synonymous | 0.429 | 134 | 140 | 0.954 | 0.00000779 | 1194 |
Loss of Function | 1.62 | 24 | 34.2 | 0.701 | 0.00000188 | 345 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00221 | 0.00221 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000219 | 0.000217 |
Finnish | 0.0000935 | 0.0000924 |
European (Non-Finnish) | 0.000305 | 0.000299 |
Middle Eastern | 0.000219 | 0.000217 |
South Asian | 0.000329 | 0.000327 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Interacts with EME1 and EME2 to form a DNA structure- specific endonuclease with substrate preference for branched DNA structures with a 5'-end at the branch nick. Typical substrates include 3'-flap structures, replication forks and nicked Holliday junctions. May be required in mitosis for the processing of stalled or collapsed replication forks. {ECO:0000269|PubMed:11741546, ECO:0000269|PubMed:12374758, ECO:0000269|PubMed:12686547, ECO:0000269|PubMed:12721304, ECO:0000269|PubMed:14617801, ECO:0000269|PubMed:15805243, ECO:0000269|PubMed:17289582, ECO:0000269|PubMed:19595721, ECO:0000269|PubMed:19596235}.;
- Pathway
- Fanconi anemia pathway - Homo sapiens (human);Homologous recombination - Homo sapiens (human);HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA);Fanconi Anemia Pathway;DNA Repair;DNA Double-Strand Break Repair;Homology Directed Repair;Resolution of D-loop Structures through Holliday Junction Intermediates;Resolution of D-Loop Structures;HDR through Homologous Recombination (HRR)
(Consensus)
Recessive Scores
- pRec
- 0.187
Intolerance Scores
- loftool
- 0.883
- rvis_EVS
- 0.78
- rvis_percentile_EVS
- 87.21
Haploinsufficiency Scores
- pHI
- 0.625
- hipred
- Y
- hipred_score
- 0.715
- ghis
- 0.507
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.271
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | High | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Mus81
- Phenotype
- immune system phenotype; respiratory system phenotype; neoplasm; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); homeostasis/metabolism phenotype; cellular phenotype;
Gene ontology
- Biological process
- resolution of meiotic recombination intermediates;double-strand break repair via break-induced replication;DNA catabolic process, endonucleolytic;DNA repair;intra-S DNA damage checkpoint;interstrand cross-link repair;response to intra-S DNA damage checkpoint signaling
- Cellular component
- nucleus;nucleoplasm;nucleolus;Holliday junction resolvase complex
- Molecular function
- DNA binding;endodeoxyribonuclease activity;protein binding;crossover junction endodeoxyribonuclease activity;metal ion binding;3'-flap endonuclease activity