Dhx33 - SNV Details



 Gene Information 
Gene Name Dhx33
Old Gene Names for Dhx33 3110057p17rik , 9430096j02rik , Ddx33
Gene Description DEAH (Asp-Glu-Ala-His) box polypeptide 33 [Source:MGI Symbol;Acc:MGI:2445102]
Uniprot Name
CCDS Name
Gene GO
nucleoplasm; helicase activity; ATP-dependent helicase activity; rDNA binding; nucleic acid binding; activating transcription factor binding; ATP binding; positive regulation of transcription from RNA polymerase I promoter; nucleolus
Homolog in other species DHX33
Omim http://omim.org/entry/614405
Immgen Expression
MEDIAN(LOW IN GN.BM, HIGH IN B.GC.SP, PROB.FRBC.FL)
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000040620
Chromosome 11
Coordinate 70,993,861     (Assembly: GRCm38)    
Ref Base G
Codon Change Cag/Tag
Var Base A
Zygosity Heterozygous
Read Depth 25
Allele Frequency
G:R0.48
A:V0.52
Amino Acid Position 426
Amino Acid Change Q->Stop (Glutamine -> Stop)
Sample ID IGL01360
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

 Predictions 
Polyphen Prediction N/A

 Protein domains 
ENSMUSP00000104167:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
P-loop containing nucleoside triphosphate hydrolase P-loop_NTPase IPR027417 ENSMUSP00000104167 Superfamily 59
639 Description available Search pathways

 Availability Details 
Availability Cryopreserved