MUS81

MUS81 structure-specific endonuclease subunit

Basic information

Region (hg38): 11:65857126-65867653

Links

ENSG00000172732NCBI:80198OMIM:606591HGNC:29814Uniprot:Q96NY9AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MUS81 gene.

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
2
clinvar
2
clinvar
4
missense
34
clinvar
2
clinvar
2
clinvar
38
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
1
clinvar
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)2327687
11-65860796-G-T not specified Uncertain significance (Mar 20, 2023)2526671
11-65860853-C-G not specified Uncertain significance (Dec 21, 2022)2263095
11-65860872-G-T not specified Uncertain significance (Oct 09, 2024)3400096
11-65860979-C-T not specified Uncertain significance (Apr 25, 2023)2530345
11-65861001-T-C not specified Uncertain significance (Dec 17, 2021)2267771
11-65861004-C-T not specified Uncertain significance (Mar 30, 2024)3297023
11-65861353-A-G not specified Uncertain significance (Oct 08, 2024)3400094
11-65861355-C-G not specified Uncertain significance (Jun 07, 2023)2558908
11-65861362-C-T not specified Uncertain significance (Jul 14, 2023)2611877
11-65861386-G-A not specified Uncertain significance (Dec 03, 2024)3400105
11-65861425-C-G not specified Uncertain significance (Aug 17, 2021)2386386
11-65861951-C-T not specified Uncertain significance (Jan 10, 2023)2469355
11-65861996-G-A not specified Uncertain significance (Feb 15, 2023)2484122
11-65861996-G-C not specified Uncertain significance (Sep 04, 2024)3400095
11-65862035-G-A not specified Likely benign (Jan 05, 2022)2270162
11-65862278-G-C not specified Uncertain significance (Jul 02, 2024)3400097
11-65862448-C-A not specified Uncertain significance (Jul 19, 2023)2612656
11-65862481-G-A not specified Uncertain significance (Apr 01, 2024)3297019
11-65863079-C-T not specified Uncertain significance (Nov 03, 2023)3151178
11-65863082-A-G not specified Uncertain significance (Mar 19, 2024)3297022
11-65863166-G-A not specified Uncertain significance (Oct 17, 2023)3151181
11-65863451-G-A not specified Uncertain significance (Mar 16, 2024)3297021
11-65863604-G-A not specified Uncertain significance (Jan 05, 2022)2377709
11-65863637-C-T not specified Uncertain significance (Jul 20, 2021)2233672

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MUS81protein_codingprotein_codingENST00000308110 1610528
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
8.85e-130.6731256550931257480.000370
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.05653313340.9910.00001943444
Missense in Polyphen6581.1220.80126873
Synonymous0.4291341400.9540.000007791194
Loss of Function1.622434.20.7010.00000188345

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.002210.00221
Ashkenazi Jewish0.000.00
East Asian0.0002190.000217
Finnish0.00009350.0000924
European (Non-Finnish)0.0003050.000299
Middle Eastern0.0002190.000217
South Asian0.0003290.000327
Other0.0001630.000163

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

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