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.

not_specified (155 variants)
not_provided (11 variants)

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. These statistics are base on transcript: NM_000007351.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar	5 clinvar	6
missense			148 clinvar	8 clinvar	2 clinvar	158
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	148	9	7

Loading clinvar variants...

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