MOSPD1

motile sperm domain containing 1

Basic information

Region (hg38): X:134887632-134915257

Links

ENSG00000101928NCBI:56180OMIM:300674HGNC:25235Uniprot:Q9UJG1AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MOSPD1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MOSPD1 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
9
clinvar
9
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 9 0 0

Variants in MOSPD1

This is a list of pathogenic ClinVar variants found in the MOSPD1 region.

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

Position Type Phenotype Significance ClinVar
X-134891541-G-A not specified Uncertain significance (Jun 16, 2024)3295616
X-134891574-G-A not specified Uncertain significance (Feb 23, 2023)2458166
X-134896870-C-A not specified Uncertain significance (May 17, 2023)2548123
X-134896919-T-C not specified Uncertain significance (Jun 16, 2024)3295615
X-134896933-T-C not specified Uncertain significance (Oct 20, 2024)3397514
X-134897012-G-C not specified Uncertain significance (Jan 23, 2024)3200556
X-134897020-C-T not specified Uncertain significance (Dec 01, 2023)2409967
X-134899124-C-T not specified Uncertain significance (Nov 26, 2024)2344405
X-134899367-C-T not specified Uncertain significance (May 15, 2023)2546380

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MOSPD1protein_codingprotein_codingENST00000370783 527642
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9250.074700000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.334375.50.5700.000005581365
Missense in Polyphen1428.7210.48745504
Synonymous-0.1773129.81.040.00000230420
Loss of Function2.6708.280.006.33e-7148

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Plays a role in differentiation and/or proliferation of mesenchymal stem cells. Proposed to be involved in epithelial-to- mesenchymal transition (EMT). However, another study suggests that it is not required for EMT or stem cell self-renewal and acts during later stages of differentiation. {ECO:0000250|UniProtKB:Q8VEL0}.;

Recessive Scores

pRec
0.105

Intolerance Scores

loftool
rvis_EVS
-0.01
rvis_percentile_EVS
52.85

Haploinsufficiency Scores

pHI
0.170
hipred
Y
hipred_score
0.580
ghis
0.570

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Mospd1
Phenotype
skeleton phenotype;

Gene ontology

Biological process
negative regulation of transcription by RNA polymerase II;cell differentiation;positive regulation of transcription by RNA polymerase II
Cellular component
Golgi membrane;nucleus;cytoplasm;endoplasmic reticulum membrane;integral component of membrane;perinuclear region of cytoplasm
Molecular function