MUS81

MUS81 structure-specific endonuclease subunit

Basic information

Region (hg38): 11:65857125-65867653

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.

• Inborn genetic diseases (28 variants)
• not provided (5 variants)
• not specified (2 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.

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	2	4
missense			26	2	2	30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region						0
non coding						0
Total	0	0	27	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)
11-65860979-C-T		not specified	Uncertain significance (Apr 25, 2023)
11-65861001-T-C		not specified	Uncertain significance (Dec 17, 2021)
11-65861355-C-G		not specified	Uncertain significance (Jun 07, 2023)
11-65861362-C-T		not specified	Uncertain significance (Jul 14, 2023)
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)
11-65862035-G-A		not specified	Likely benign (Jan 05, 2022)
11-65862448-C-A		not specified	Uncertain significance (Jul 19, 2023)
11-65863079-C-T		not specified	Uncertain significance (Nov 03, 2023)
11-65863166-G-A		not specified	Uncertain significance (Oct 17, 2023)
11-65863604-G-A		not specified	Uncertain significance (Jan 05, 2022)
11-65863637-C-T		not specified	Uncertain significance (Jul 20, 2021)
11-65863645-C-G		not specified	Uncertain significance (Jan 29, 2024)
11-65863691-G-A		not specified	Uncertain significance (May 09, 2023)
11-65863833-A-G		not specified	Uncertain significance (Oct 13, 2023)
11-65863834-T-C		not specified	Uncertain significance (Jun 28, 2023)
11-65863873-T-G		not specified	Uncertain significance (Dec 02, 2022)
11-65864501-G-A		not specified	Uncertain significance (Jun 25, 2021)
11-65864502-G-A		not specified	Benign (Mar 29, 2016)
11-65864514-T-C			Likely benign (Dec 01, 2022)
11-65864566-C-A		not specified	Uncertain significance (Aug 04, 2023)

GnomAD

Source: gnomAD

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: 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

	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