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
microtubule-based movement; microtubule motor activity; nucleoside-triphosphatase activity; nucleotide binding; ATP binding; dynein complex
Homolog in other species DNAH7
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000096141
Chromosome 1
Coordinate 53,495,717     (Assembly: GRCm38)    
Ref Base T
Codon Change Aag/Gag
Var Base C
Zygosity Heterozygous
Read Depth 114
Allele Frequency
T:R0.66
C:V0.34
Amino Acid Position 2795
Amino Acid Change K->E (Lysine -> Glutamic acid)
Sample ID IGL02120
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 45 Other Mutations

 Predictions 
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability