MOSPD3

motile sperm domain containing 3

Basic information

Region (hg38): 7:100612102-100615384

Links

ENSG00000106330 ∙ NCBI:64598 ∙ OMIM:609125 ∙ HGNC:25078 ∙ Uniprot:O75425 ∙ 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 MOSPD3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MOSPD3 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			13	1		14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	1	0

Variants in MOSPD3

This is a list of pathogenic ClinVar variants found in the MOSPD3 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-100612796-G-A		not specified	Uncertain significance (Sep 11, 2024)
7-100612804-G-A		not specified	Uncertain significance (Mar 21, 2023)
7-100612831-C-G		not specified	Uncertain significance (Jun 24, 2022)
7-100612841-C-G		not specified	Uncertain significance (Feb 03, 2022)
7-100612856-G-A		not specified	Uncertain significance (Aug 14, 2023)
7-100612870-C-A		not specified	Uncertain significance (Nov 30, 2022)
7-100612891-G-A		not specified	Uncertain significance (Dec 03, 2024)
7-100612909-G-A		not specified	Uncertain significance (Jan 23, 2023)
7-100612964-A-G		not specified	Uncertain significance (Nov 10, 2022)
7-100612978-A-G		not specified	Likely benign (Jun 17, 2024)
7-100613221-C-T		not specified	Uncertain significance (Apr 18, 2023)
7-100613268-A-G		not specified	Uncertain significance (Oct 16, 2024)
7-100613512-A-G		not specified	Uncertain significance (Dec 04, 2024)
7-100613526-C-A		not specified	Uncertain significance (Dec 10, 2024)
7-100613527-G-A		not specified	Uncertain significance (Dec 11, 2023)
7-100613535-A-G		not specified	Uncertain significance (Sep 20, 2023)
7-100613619-C-T		not specified	Uncertain significance (Oct 29, 2024)
7-100613653-G-A		not specified	Likely benign (Oct 04, 2022)
7-100613686-C-T		not specified	Uncertain significance (May 26, 2024)
7-100614890-A-G		not specified	Uncertain significance (Aug 12, 2022)
7-100614965-G-A		not specified	Likely benign (Nov 12, 2024)
7-100615175-C-T		not specified	Uncertain significance (Jul 30, 2024)
7-100615176-G-A		not specified	Uncertain significance (Feb 06, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MOSPD3	protein_coding	protein_coding	ENST00000393950	5	3283

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000245	0.779	125725	0	23	125748	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.438	135	150	0.899	0.00000884	1467
Missense in Polyphen		46	52.001	0.88459		511
Synonymous	0.951	55	64.7	0.850	0.00000365	555
Loss of Function	1.08	7	10.9	0.645	6.58e-7	99

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000181	0.000181
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.0000841	0.0000791
Middle Eastern	0.000272	0.000272
South Asian	0.000163	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0717

Intolerance Scores

• loftool: 0.141
• rvis_EVS: 0.08
• rvis_percentile_EVS: 60.09

Haploinsufficiency Scores

• pHI: 0.0280
• hipred: N
• hipred_score: 0.170
• ghis: 0.446

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.128

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mospd3
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); muscle phenotype

Gene ontology

• Biological process: heart development
• Cellular component: endoplasmic reticulum membrane;integral component of membrane