MMRN1

multimerin 1, the group of EMI domain containing|C1q domain containing

Basic information

Region (hg38): 4:89879532-89954629

Previous symbols: [ "MMRN" ]

Links

ENSG00000138722 ∙ NCBI:22915 ∙ OMIM:601456 ∙ HGNC:7178 ∙ Uniprot:Q13201 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• male infertility with azoospermia or oligozoospermia due to single gene mutation (Moderate), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MMRN1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MMRN1 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	5	6
missense			71	5	2	78
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					2	2
non coding						0
Total	0	0	71	6	7

Variants in MMRN1

This is a list of pathogenic ClinVar variants found in the MMRN1 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-89895017-G-A		not specified	Uncertain significance (Jun 05, 2023)
4-89895058-A-G		not specified	Uncertain significance (Jan 23, 2024)
4-89895059-C-T		not specified	Uncertain significance (Sep 29, 2023)
4-89895071-A-C		not specified	Uncertain significance (Dec 28, 2022)
4-89895096-C-T		not specified	Uncertain significance (Mar 02, 2023)
4-89895101-G-A			Benign (Apr 04, 2018)
4-89895117-T-C		not specified	Likely benign (Mar 24, 2023)
4-89895200-A-G		not specified	Uncertain significance (Sep 01, 2021)
4-89895215-A-G		not specified	Uncertain significance (Dec 06, 2023)
4-89895234-C-A		not specified	Uncertain significance (May 05, 2023)
4-89895401-A-C		not specified	Uncertain significance (Aug 02, 2021)
4-89895449-G-A		not specified	Uncertain significance (Apr 15, 2024)
4-89895459-G-A		not specified	Uncertain significance (Oct 13, 2023)
4-89895464-A-C		not specified	Uncertain significance (Oct 20, 2021)
4-89895473-G-A		not specified	Uncertain significance (Dec 28, 2022)
4-89895490-C-T			Benign (Dec 31, 2019)
4-89895527-C-T		not specified	Uncertain significance (Jan 04, 2024)
4-89895576-T-G		not specified	Uncertain significance (Jul 06, 2022)
4-89909281-G-C		not specified	Uncertain significance (Dec 06, 2022)
4-89909310-C-A		not specified	Uncertain significance (May 15, 2024)
4-89909317-T-C		not specified	Uncertain significance (Jun 09, 2022)
4-89909322-T-C			Benign (Apr 04, 2018)
4-89909326-A-G		not specified	Uncertain significance (Dec 27, 2023)
4-89909328-A-G		not specified	Uncertain significance (Sep 23, 2023)
4-89909334-G-T		not specified	Uncertain significance (Oct 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MMRN1	protein_coding	protein_coding	ENST00000394980	8	75098

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.07e-25	0.00138	125554	1	183	125738	0.000732

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.10	709	631	1.12	0.0000312	8077
Missense in Polyphen		194	176.6	1.0985		2345
Synonymous	-2.30	275	231	1.19	0.0000119	2337
Loss of Function	0.500	40	43.6	0.918	0.00000207	603

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00153	0.00151
Ashkenazi Jewish	0.000101	0.0000992
East Asian	0.000218	0.000218
Finnish	0.00213	0.00213
European (Non-Finnish)	0.000364	0.000360
Middle Eastern	0.000218	0.000218
South Asian	0.00190	0.00183
Other	0.000853	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Carrier protein for platelet (but not plasma) factor V/Va. Plays a role in the storage and stabilization of factor V in platelets. Upon release following platelet activation, may limit platelet and plasma factor Va-dependent thrombin generation. Ligand for integrin alpha-IIb/beta-3 and integrin alpha-V/beta-3 on activated platelets, and may function as an extracellular matrix or adhesive protein. {ECO:0000269|PubMed:16363244, ECO:0000269|PubMed:19132231, ECO:0000269|PubMed:7629143}.
• Disease: DISEASE: Note=Deficiency in multimerin-1 due to proteolytic degradation within the platelet alpha granules is associated with an autosomal dominant bleeding disorder (factor V Quebec). {ECO:0000269|PubMed:8652809}.
• Pathway: Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Hemostasis (Consensus)

Recessive Scores

• pRec: 0.168

Intolerance Scores

• loftool: 0.709
• rvis_EVS: 0.35
• rvis_percentile_EVS: 73.8

Haploinsufficiency Scores

• pHI: 0.139
• hipred: N
• hipred_score: 0.146
• ghis: 0.472

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.832

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mmrn1
• Phenotype: reproductive system phenotype

Gene ontology

• Biological process: platelet degranulation;cell adhesion;blood coagulation;positive regulation of cell-substrate adhesion
• Cellular component: extracellular region;extracellular matrix;platelet alpha granule lumen;collagen-containing extracellular matrix
• Molecular function: extracellular matrix structural constituent;calcium ion binding;protein binding