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 118,080,767     (Assembly: GRCm38)    
Ref Base T
Codon Change Acc/Gcc
Var Base C
Zygosity Heterozygous
Read Depth 89
Allele Frequency
T:R0.52
C:V0.48
Amino Acid Position 2147
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL02454
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved