MUC15

mucin 15, cell surface associated, the group of Mucins

Basic information

Region (hg38): 11:26559032-26572263

Links

ENSG00000169550 ∙ NCBI:143662 ∙ OMIM:608566 ∙ HGNC:14956 ∙ Uniprot:Q8N387 ∙ 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 MUC15 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MUC15 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				1		1
missense			22	1	2	25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding			3	3	8	14
Total	0	0	25	5	10

Variants in MUC15

This is a list of pathogenic ClinVar variants found in the MUC15 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-26559701-T-C		Dystonic disorder	Likely benign (Jul 14, 2023)
11-26559731-T-A			Uncertain significance (Jan 07, 2024)
11-26559733-C-T		Dystonic disorder	Benign (Dec 15, 2023)
11-26559739-T-C		Dystonic disorder	Likely benign (Aug 11, 2023)
11-26559746-A-ACAGTCTTCT			Uncertain significance (Oct 05, 2023)
11-26559757-T-G		Inborn genetic diseases	Uncertain significance (Sep 17, 2021)
11-26559769-G-A		Dystonic disorder	Uncertain significance (Sep 15, 2021)
11-26559784-G-A		Dystonic disorder	Uncertain significance (Jun 08, 2022)
11-26559835-TAC-T			Benign (Oct 09, 2019)
11-26559835-TACAC-T		Dystonia 24	Benign (Dec 05, 2021)
11-26559835-TACACAC-T			Benign (Aug 05, 2019)
11-26559835-TACACACAC-T			Benign (Aug 20, 2019)
11-26559835-T-TAC		Dystonia 24	Benign (Dec 05, 2021)
11-26559835-T-TACAC			Likely benign (May 17, 2020)
11-26559851-C-CAT			Benign (Aug 21, 2019)
11-26559977-C-T			Benign (Jul 17, 2018)
11-26561082-G-C		not specified	Uncertain significance (Sep 27, 2021)
11-26561105-A-T		not specified	Uncertain significance (May 21, 2024)
11-26561205-G-T		not specified	Uncertain significance (Mar 01, 2023)
11-26561207-G-T		not specified	Uncertain significance (Apr 12, 2022)
11-26563118-G-A		not specified	Uncertain significance (Aug 08, 2023)
11-26563142-C-T		not specified	Uncertain significance (Jan 18, 2023)
11-26563148-T-G		not specified	Uncertain significance (Apr 17, 2023)
11-26563154-A-G		not specified	Uncertain significance (Dec 14, 2023)
11-26563233-T-C		not specified	Uncertain significance (Dec 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MUC15	protein_coding	protein_coding	ENST00000436318	4	13201

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000501	0.683	125613	0	25	125638	0.0000995

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.559	209	187	1.11	0.00000940	2333
Missense in Polyphen		42	39.699	1.058		462
Synonymous	0.875	62	71.4	0.868	0.00000392	725
Loss of Function	0.926	8	11.4	0.704	6.35e-7	157

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000185	0.000184
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000545	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.0000545	0.0000544
South Asian	0.000243	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in the cell adhesion to the extracellular matrix.
• 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: 0.0983

Intolerance Scores

• loftool: 0.986
• rvis_EVS: 0.71
• rvis_percentile_EVS: 85.53

Haploinsufficiency Scores

• pHI: 0.106
• hipred: N
• hipred_score: 0.123
• ghis: 0.489

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Muc15

Gene ontology

• Biological process: stimulatory C-type lectin receptor signaling pathway;O-glycan processing
• Cellular component: extracellular region;Golgi lumen;plasma membrane;integral component of membrane