Dhx9 - SNV Details



 Gene Information 
Gene Name Dhx9
Old Gene Names for Dhx9 Ai326842 , Ddx9
Gene Description DEAH (Asp-Glu-Ala-His) box polypeptide 9 [Source:MGI Symbol;Acc:MGI:108177]
MGI phenotype Homozygotes die in embryonic stages with massive apoptotic cell death in embryonic ectodermal cells.
Uniprot Name
CCDS Name
Gene GO
helicase activity; ATP-dependent helicase activity; intracellular; RNA polymerase II transcription factor binding; cellular response to heat; protein binding; nucleus; ribonucleoprotein complex; CRD-mediated mRNA stability complex; nucleic acid binding; double-stranded RNA binding; ATP binding; nucleolus; circadian rhythm; centrosome; CRD-mediated mRNA stabilization
Homolog in other species DHX9
Omim http://omim.org/entry/603115
Immgen Expression
HIGH(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, TGD GROUP)
Gnf Expression
HIGH(HIGHER IN IMM.G1, IMM.G3, AND EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000042699
Chromosome 1
Coordinate 153,459,566     (Assembly: GRCm38)    
Ref Base A
Codon Change gaT/gaA
Var Base T
Zygosity Heterozygous
Read Depth 165
Allele Frequency
A:R0.57
T:V0.43
Amino Acid Position 929
Amino Acid Change D->E (Aspartic acid -> Glutamic acid)
Sample ID IGL01555
Median Base Quality 39
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 19 Other Mutations

 Predictions 
Polyphen Score 0.01
Polyphen Prediction Benign
Sift Score 1
Sift Prediction tolerated

 Availability Details 
Availability