MUC17

mucin 17, cell surface associated, the group of Mucins

Basic information

Region (hg38): 7:101020071-101058859

Links

ENSG00000169876 ∙ NCBI:140453 ∙ OMIM:608424 ∙ HGNC:16800 ∙ Uniprot:Q685J3 ∙ 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 MUC17 gene.

• Inborn genetic diseases (234 variants)
• not provided (21 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MUC17 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				15		15
missense			224	15	1	240
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	224	30	1

Variants in MUC17

This is a list of pathogenic ClinVar variants found in the MUC17 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-101020184-T-A		not specified	Uncertain significance (Aug 22, 2022)
7-101020197-C-G		not specified	Uncertain significance (Dec 08, 2023)
7-101031609-G-A		not specified	Uncertain significance (Oct 30, 2023)
7-101031631-C-A		not specified	Uncertain significance (Jan 24, 2024)
7-101031688-T-C		not specified	Uncertain significance (Mar 08, 2024)
7-101031712-C-T		not specified	Uncertain significance (Dec 02, 2021)
7-101031723-C-T		not specified	Likely benign (Apr 11, 2023)
7-101031733-C-G		not specified	Uncertain significance (Aug 05, 2023)
7-101031855-G-A		not specified	Likely benign (Dec 18, 2023)
7-101031883-G-A		not specified	Uncertain significance (Dec 16, 2023)
7-101031918-C-G		not specified	Uncertain significance (Sep 20, 2022)
7-101031989-T-A			Likely benign (Jul 01, 2022)
7-101032044-A-G		not specified	Uncertain significance (Jun 02, 2023)
7-101032138-T-C		not specified	Uncertain significance (Oct 14, 2023)
7-101032210-T-G		not specified	Uncertain significance (Apr 13, 2022)
7-101032257-C-A			Likely benign (Sep 01, 2023)
7-101032350-G-A		not specified	Uncertain significance (Aug 20, 2023)
7-101032417-C-T		not specified	Uncertain significance (Jun 02, 2023)
7-101032443-A-C		not specified	Uncertain significance (Nov 29, 2023)
7-101032451-G-A			Likely benign (Oct 01, 2022)
7-101032477-T-A		not specified	Uncertain significance (Jul 20, 2022)
7-101032536-C-T		not specified	Uncertain significance (Mar 16, 2022)
7-101032564-T-A		not specified	Uncertain significance (Mar 01, 2024)
7-101032570-C-A		not specified	Uncertain significance (Feb 16, 2023)
7-101032610-G-A		not specified	Uncertain significance (Dec 20, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MUC17	protein_coding	protein_coding	ENST00000306151	13	38668

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.90e-63	7.99e-13	124239	7	1502	125748	0.00602

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-7.83	3313	2.26e+3	1.46	0.000117	27937
Missense in Polyphen		443	301.84	1.4677		3948
Synonymous	-9.46	1171	825	1.42	0.0000466	10318
Loss of Function	-1.85	85	68.5	1.24	0.00000312	1198

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00831	0.00831
Ashkenazi Jewish	0.0123	0.0124
East Asian	0.00262	0.00261
Finnish	0.00864	0.00863
European (Non-Finnish)	0.00449	0.00444
Middle Eastern	0.00262	0.00261
South Asian	0.0111	0.0109
Other	0.00914	0.00916

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probably plays a role in maintaining homeostasis on mucosal surfaces. {ECO:0000269|PubMed:17990980}.
• 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)

Intolerance Scores

• loftool: 0.930
• rvis_EVS: 16.95
• rvis_percentile_EVS: 99.98

Haploinsufficiency Scores

• pHI: 0.0157

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00697

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Muc3

Gene ontology

• Biological process: stimulatory C-type lectin receptor signaling pathway;O-glycan processing;cellular homeostasis
• Cellular component: Golgi lumen;plasma membrane;external side of plasma membrane;integral component of membrane;apical plasma membrane;collagen-containing extracellular matrix
• Molecular function: protein binding;PDZ domain binding;extracellular matrix constituent, lubricant activity