Dnah2 - SNV Details



 Gene Information 
Gene Name Dnah2
Old Gene Names for Dnah2 2900022l05rik , D330014h01rik , Dnahc2 , Dnhd3
Gene Description dynein, axonemal, heavy chain 2 [Source:MGI Symbol;Acc:MGI:107731]
Uniprot Name
CCDS Name
Gene GO
ATPase activity; cytoplasm; microtubule-based movement; microtubule; microtubule motor activity; nucleoside-triphosphatase activity; nucleotide binding; ATP binding; cilium axoneme; dynein complex
Homolog in other species DNAH2
Omim http://omim.org/entry/603333
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGHER IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000005237
Chromosome 11
Coordinate 69,446,292     (Assembly: GRCm38)    
Ref Base T
Codon Change gAa/gGa
Var Base C
Zygosity Heterozygous
Read Depth 27
Allele Frequency
T:R0.48
C:V0.52
Amino Acid Position 3268
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL02381
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 0.01
Polyphen Prediction Benign
Sift Score 0.31
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved