MUC12

mucin 12, cell surface associated, the group of Mucins

Basic information

Region (hg38): 7:100969565-101018939

Previous symbols: [ "MUC11" ]

Links

ENSG00000205277 ∙ NCBI:10071 ∙ OMIM:604609 ∙ HGNC:7510 ∙ Uniprot:Q9UKN1 ∙ 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 MUC12 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MUC12 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				34	1	35
missense				6	1	7
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	40	2

Variants in MUC12

This is a list of pathogenic ClinVar variants found in the MUC12 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-100991100-G-A			Likely benign (Mar 01, 2023)
7-100991286-A-C			Likely benign (Jan 01, 2023)
7-100991340-A-G			Likely benign (Jul 01, 2024)
7-100992030-C-G			Likely benign (Jul 01, 2024)
7-100992405-G-A			Likely benign (Jul 01, 2022)
7-100992462-A-T			Likely benign (Jul 01, 2024)
7-100992675-C-T			Likely benign (Nov 01, 2022)
7-100992801-G-A			Likely benign (Mar 01, 2022)
7-100992888-C-T			Likely benign (Jul 01, 2024)
7-100993761-A-G			Likely benign (Jan 01, 2023)
7-100993932-G-T			Likely benign (Aug 01, 2023)
7-100993961-G-A			Likely benign (Aug 01, 2023)
7-100994057-G-A			Likely benign (Nov 01, 2022)
7-100994375-C-T			Likely benign (Jul 01, 2024)
7-100995084-C-T			Likely benign (Dec 01, 2022)
7-100995387-C-T			Likely benign (Aug 01, 2022)
7-100995420-C-T			Likely benign (Aug 01, 2022)
7-100995714-C-T			Likely benign (Jul 01, 2024)
7-100995774-T-C			Likely benign (Nov 01, 2022)
7-100995978-A-G			Likely benign (Jan 01, 2024)
7-100996821-G-A			Likely benign (Nov 01, 2022)
7-100999174-G-A			not provided (-)
7-101001036-C-A			Likely benign (Aug 01, 2022)
7-101001558-A-G			Likely benign (Nov 01, 2022)
7-101002386-C-T			Likely benign (Jan 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MUC12	protein_coding	protein_coding	ENST00000536621	12	49327

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.28e-68	8.20e-15	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-6.32	2247	1.55e+3	1.45	0.0000845	31779
Missense in Polyphen		332	299.67	1.1079		5523
Synonymous	-6.13	825	629	1.31	0.0000376	11638
Loss of Function	-2.59	90	67.1	1.34	0.00000341	1588

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in epithelial cell protection, adhesion modulation, and signaling. May be involved in epithelial cell growth regulation. Stimulated by both cytokine TNF-alpha and TGF- beta in intestinal epithelium. {ECO:0000269|PubMed:17058067}.
• 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)

Haploinsufficiency Scores

• pHI: 0.0971

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.441

Gene Damage Prediction

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

Gene ontology

• Biological process: regulation of cell growth;stimulatory C-type lectin receptor signaling pathway;O-glycan processing
• Cellular component: Golgi lumen;plasma membrane;integral component of plasma membrane
• Molecular function: molecular_function