Dnah7a - SNV Details



 Gene Information 
Gene Name Dnah7a
Old Gene Names for Dnah7a Dnahc7a , Dnahc7
Gene Description dynein, axonemal, heavy chain 7A [Source:MGI Symbol;Acc:MGI:2685838]
Uniprot Name
CCDS Name
Gene GO
ATPase activity; axonemal dynein complex; microtubule-based movement; microtubule motor activity; nucleoside-triphosphatase activity; cilium movement; cellular_component; nucleotide binding; ATP binding; biological_process; dynein complex; calcium ion binding; ATP catabolic process; molecular_function
Homolog in other species DNAH7
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000096141
Chromosome 1
Coordinate 53,495,950     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 45
Allele Frequency
A:R0.47
G:V0.53
Amino Acid Change I->T (Isoleucine -> Threonine)
Sample ID IGL02926
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 45 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Unknown

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved