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
ATPase activity; signal transduction; microtubule-based movement; intracellular; microtubule motor activity; cellular_component; ATP binding; biological_process; dynein complex; molecular_function
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 118,072,908     (Assembly: GRCm38)    
Ref Base A
Codon Change gTg/gCg
Var Base G
Zygosity Heterozygous
Read Depth 61
Allele Frequency
A:R0.52
G:V0.48
Amino Acid Position 2513
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02131
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved