MUC13

mucin 13, cell surface associated, the group of Mucins

Basic information

Region (hg38): 3:124905441-124953819

Previous symbols: [ "DRCC1" ]

Links

ENSG00000173702

∙ NCBI:56667 ∙ OMIM:612181 ∙ HGNC:7511 ∙ Uniprot:Q9H3R2 ∙ 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 MUC13 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MUC13 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						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MUC13	protein_coding	protein_coding	ENST00000311075	11	48375

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00244	0.995	125721	0	26	125747	0.000103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.866	235	275	0.853	0.0000137	3348
Missense in Polyphen		45	55.473	0.8112		703
Synonymous	0.771	96	106	0.905	0.00000604	1000
Loss of Function	2.59	8	20.8	0.386	8.76e-7	288

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000608	0.000597
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000139	0.000139
European (Non-Finnish)	0.0000536	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.0000346	0.0000327
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Epithelial and hemopoietic transmembrane mucin that may play a role in cell signaling.;
Pathway: Post-translational protein modification;Dectin-2 family;Metabolism of proteins;C-type lectin receptors (CLRs);Innate Immune System;Immune System;Termination of O-glycan biosynthesis;O-linked glycosylation of mucins;O-linked glycosylation (Consensus)

Recessive Scores

pRec: 0.0418

Haploinsufficiency Scores

pHI: 0.0149
hipred: N
hipred_score: 0.169
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.166

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Muc13
Phenotype

Gene ontology

Biological process: stimulatory C-type lectin receptor signaling pathway;O-glycan processing;maintenance of gastrointestinal epithelium
Cellular component: extracellular space;Golgi lumen;cytosol;plasma membrane;integral component of membrane;apical plasma membrane
Molecular function: protein homodimerization activity