Dhx8 - SNV Details



 Gene Information 
Gene Name Dhx8
Old Gene Names for Dhx8 Ddx8
Gene Description DEAH (Asp-Glu-Ala-His) box polypeptide 8 [Source:MGI Symbol;Acc:MGI:1306823]
Uniprot Name
CCDS Name
Gene GO
helicase activity; RNA binding; RNA splicing; ATP-dependent helicase activity; poly(A) RNA binding; protein binding; nucleus; transport; catalytic step 2 spliceosome; nucleic acid binding; ATP binding; identical protein binding; mRNA processing; ATP catabolic process
Homolog in other species DHX8
Omim http://omim.org/entry/600396
Immgen Expression
HIGH
Gnf Expression
MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE, IMM.G1, IMM.G3, OSTEO GROUP, M1, EMBRYONIC.STEM TISSUES)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000034931
Chromosome 11
Coordinate 101,752,004     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 15
Allele Frequency
G:R0.53
A:V0.47
Amino Acid Change Disrupted splicing
Splice Position 7
Sample ID IGL02691
Median Base Quality 34
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 58 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved