MUCL1

mucin like 1

Basic information

Region (hg38): 12:54830518-54896008

Links

ENSG00000172551 ∙ NCBI:118430 ∙ OMIM:610857 ∙ HGNC:30588 ∙ Uniprot:Q96DR8 ∙ 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 MUCL1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MUCL1 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			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	0	0

Variants in MUCL1

This is a list of pathogenic ClinVar variants found in the MUCL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-54854607-C-T		not specified	Uncertain significance (Feb 15, 2023)
12-54855133-G-A		not specified	Uncertain significance (May 31, 2023)
12-54856809-C-G		not specified	Uncertain significance (Nov 22, 2021)
12-54856821-C-G		not specified	Uncertain significance (Oct 06, 2021)
12-54856844-A-G		not specified	Uncertain significance (Mar 25, 2024)
12-54856872-C-A		not specified	Uncertain significance (May 20, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MUCL1	protein_coding	protein_coding	ENST00000308796	4	27875

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000309	0.202	124458	42	1109	125609	0.00459

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.647	65	51.9	1.25	0.00000274	557
Missense in Polyphen
Synonymous	-2.42	32	18.7	1.71	0.00000101	203
Loss of Function	-0.648	6	4.52	1.33	3.75e-7	40

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000518	0.000518
Ashkenazi Jewish	0.00219	0.00218
East Asian	0.0000545	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000194	0.000194
Middle Eastern	0.0000545	0.0000544
South Asian	0.0364	0.0357
Other	0.00394	0.00392

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role as marker for the diagnosis of metastatic breast cancer. {ECO:0000269|PubMed:12019145, ECO:0000269|PubMed:12595743, ECO:0000269|PubMed:15684711}.
• 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: 0.551
• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.25

Haploinsufficiency Scores

• pHI: 0.0388
• hipred: N
• hipred_score: 0.146
• ghis: 0.525

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.137

Gene Damage Prediction

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

Gene ontology

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