Dnah17 - SNV Details



 Gene Information 
Gene Name Dnah17
Old Gene Names for Dnah17 Gm1178 , 2810003k23rik , Dnahc17 , Dnahcl1
Gene Description dynein, axonemal, heavy chain 17 [Source:MGI Symbol;Acc:MGI:1917176]
Uniprot Name
CCDS Name
Gene GO
ATP binding
ATPase activity
biological_process
cellular_component
dynein complex
intracellular
microtubule motor activity
microtubule-based movement
molecular_function
nucleoside-triphosphatase activity
nucleotide binding
Homolog in other species DNAH17
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000033987
Chromosome 11
Coordinate 118,096,485     (Assembly: GRCm38)    
Ref Base A
Codon Change gTg/gCg
Var Base G
Zygosity Heterozygous
Read Depth 11
Allele Frequency
A:0.45
G:0.55
Amino Acid Position 1333
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL00764
Median Base Quality 33
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 19 Other Mutations

 Predictions 
Polyphen Score 0.97
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000081864:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Dynein heavy chain, domain-2 Dynein_heavy_dom-2 IPR013602 ENSMUSP00000081864 Pfam 1260
1672 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved