GeneBe

MUS81

MUS81 structure-specific endonuclease subunit

Basic information

Region (hg38): 11:65857126-65867653

Links

ENSG00000172732 ∙ NCBI:80198 ∙ OMIM:606591 ∙ HGNC:29814 ∙ Uniprot:Q96NY9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

  • not_specified (83 variants)
  • not_provided (5 variants)

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. These statistics are base on transcript: NM_000025128.5. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
 2
missense
80
clinvar
3
clinvar
2
clinvar
 85
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
1
clinvar
 1
Total 0 0 81 5 2
Loading clinvar variants...

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