Dnah5 - SNV Details



 Gene Information 
Gene Name Dnah5
Old Gene Names for Dnah5 Au022615 , Dnahc5
Gene Description dynein, axonemal, heavy chain 5 [Source:MGI Symbol;Acc:MGI:107718]
Uniprot Name
CCDS Name
Gene GO
axoneme; lateral ventricle development; ATPase activity; axonemal dynein complex; microtubule-based movement; microtubule; microtubule motor activity; metabolic process; nucleoside-triphosphatase activity; left/right axis specification; cilium movement; nucleotide binding; ATP binding; dynein complex; ATP catabolic process
Homolog in other species DNAH5
Omim http://omim.org/entry/603335
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022262
Chromosome 15
Coordinate 28,458,649     (Assembly: GRCm38)    
Ref Base T
Var Base G
Zygosity Heterozygous
Read Depth 47
Allele Frequency
T:R0.45
G:V0.55
Amino Acid Change F->L (Phenylalanine -> Leucine)
Sample ID IGL03273
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 27 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved