Ddx4 - SNV Details



 Gene Information 
Gene Name Ddx4
Old Gene Names for Ddx4 Av206478
Gene Description DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 [Source:MGI Symbol;Acc:MGI:102670]
MGI phenotype Spermatogenesis is blocked in homozygous mutant mice, resulting in male infertility. Female mutant mice are fertile and do not exhibit any obvious reproductive defects.
Uniprot Name
CCDS Name
Gene GO
helicase activity; perinuclear region of cytoplasm; piP-body; spermatogenesis; regulation of protein localization; cytoplasm; ATP-dependent helicase activity; protein binding; pi-body; nucleus; ribonucleoprotein complex; nucleic acid binding; ATP binding; chromatoid body; sperm motility; male meiosis I; ATP catabolic process; multicellular organismal development
Homolog in other species DDX4
Omim http://omim.org/entry/605281
Immgen Expression
LOW
Gnf Expression
MEDIAN(HIGH IN TESTIS)
MEDIAN(HIGH IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021758
Chromosome 13
Coordinate 112,622,186     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 21
Allele Frequency
A:R0.62
T:V0.38
Amino Acid Change H->Q (Histidine -> Glutamine)
Sample ID IGL02682
Median Base Quality 41
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Polyphen Score 0.02
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved