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 118,036,350     (Assembly: GRCm38)    
Ref Base T
Codon Change Aaa/Gaa
Var Base C
Zygosity Heterozygous
Read Depth 46
Allele Frequency
T:R0.50
C:V0.50
Amino Acid Position 3871
Amino Acid Change K->E (Lysine -> Glutamic acid)
Sample ID IGL02458
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 69 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved