Dnah1 - SNV Details



 Gene Information 
Gene Name Dnah1
Old Gene Names for Dnah1 Dnahc1 , E030034c22rik , B230373p09rik
Gene Description dynein, axonemal, heavy chain 1 [Source:MGI Symbol;Acc:MGI:107721]
Uniprot Name
CCDS Name
Gene GO
ATPase activity; axonemal dynein complex; microtubule-based movement; microtubule motor activity; metabolic process; cilium movement; ATP binding; dynein complex; ATP catabolic process
Homolog in other species DNAH1
Omim http://omim.org/entry/603332
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000019027
Chromosome 14
Coordinate 31,266,717     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 23
Allele Frequency
A:R0.57
T:V0.44
Amino Acid Change S->T (Serine -> Threonine)
Sample ID IGL03110
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 37 Other Mutations

 Predictions 
Polyphen Score 0.09
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved