MUCL3

mucin like 3

Basic information

Region (hg38): 6:30934522-30954221

Previous symbols: [ "DPCR1" ]

Links

ENSG00000168631 ∙ NCBI:135656 ∙ OMIM:613928 ∙ HGNC:21666 ∙ Uniprot:Q3MIW9 ∙ 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 MUCL3 gene.

• Inborn genetic diseases (15 variants)
• not provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MUCL3 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				4		4
missense			15		3	18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	4	3

Variants in MUCL3

This is a list of pathogenic ClinVar variants found in the MUCL3 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-30941070-C-G		not specified	Uncertain significance (Mar 23, 2022)
6-30941073-G-C		not specified	Uncertain significance (Sep 16, 2021)
6-30948556-C-T		not specified	Uncertain significance (Apr 27, 2022)
6-30948717-C-T		not specified	Uncertain significance (Jul 06, 2021)
6-30948735-C-T		not specified	Uncertain significance (Oct 12, 2021)
6-30948801-G-A		not specified	Uncertain significance (Dec 22, 2023)
6-30948844-A-G		not specified	Uncertain significance (Nov 08, 2022)
6-30948850-G-T		not specified	Uncertain significance (Aug 02, 2021)
6-30948867-C-T		not specified	Uncertain significance (Nov 03, 2023)
6-30948868-G-A			Benign (May 10, 2018)
6-30948895-A-C		not specified	Uncertain significance (Feb 22, 2023)
6-30948921-G-A		not specified	Uncertain significance (Dec 07, 2021)
6-30948933-C-A		not specified	Uncertain significance (Jun 07, 2023)
6-30948940-C-T		not specified	Uncertain significance (Sep 22, 2022)
6-30948970-G-A		not specified	Likely benign (Dec 08, 2023)
6-30949069-G-A		not specified	Uncertain significance (Mar 07, 2024)
6-30949102-C-T		not specified	Uncertain significance (Nov 03, 2022)
6-30949185-G-A		not specified	Uncertain significance (Dec 09, 2023)
6-30949214-A-C		not specified	Uncertain significance (Apr 28, 2022)
6-30949224-A-G		not specified	Uncertain significance (Mar 02, 2023)
6-30949276-A-G		not specified	Uncertain significance (Jul 19, 2022)
6-30949352-C-A		not specified	Uncertain significance (Nov 09, 2022)
6-30949363-C-A		not specified	Uncertain significance (Nov 16, 2021)
6-30949404-G-A		not specified	Uncertain significance (Apr 07, 2022)
6-30949470-G-A		not specified	Likely benign (Aug 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MUCL3	protein_coding	protein_coding	ENST00000462446	3	13250

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000123	0.998	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.36	539	717	0.752	0.0000340	8936
Missense in Polyphen		62	91.978	0.67407		1166
Synonymous	3.56	207	283	0.731	0.0000145	2992
Loss of Function	2.71	13	28.6	0.454	0.00000130	471

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: May modulate NF-kappaB signaling and play a role in cell growth. {ECO:0000269|PubMed:29242154}.

Recessive Scores

• pRec: 0.0442

Intolerance Scores

• rvis_EVS: 2.82
• rvis_percentile_EVS: 99.06

Haploinsufficiency Scores

• pHI: 0.0249
• hipred: N
• hipred_score: 0.329
• ghis: 0.383

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Mucl3

Gene ontology

• Cellular component: cytoplasm;plasma membrane;integral component of membrane