Dnah8 - SNV Details



 Gene Information 
Gene Name Dnah8
Old Gene Names for Dnah8 Dnahc8
Gene Description dynein, axonemal, heavy chain 8 [Source:MGI Symbol;Acc:MGI:107714]
Uniprot Name
CCDS Name
Gene GO
ATPase activity; cytoplasm; microtubule-based movement; microtubule; microtubule motor activity; nucleoside-triphosphatase activity; nucleotide binding; microtubule-based flagellum; ATP binding; cilium axoneme; biological_process; dynein complex; molecular_function
Homolog in other species DNAH8
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, ABT GROUP, TACTIVATION GROUP)
LOW(HIGH IN TGD GROUP, ABT GROUP, TACTIVATION GROUP)
Gnf Expression
LOW(HIGH IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000033826
Chromosome 17
Coordinate 30,649,773     (Assembly: GRCm38)    
Ref Base A
Codon Change Aag/Tag
Var Base T
Zygosity Heterozygous
Read Depth 44
Allele Frequency
A:R0.55
T:V0.46
Amino Acid Position 394
Amino Acid Change K->Stop (Lysine -> Stop)
Sample ID IGL02236
Median Base Quality 36.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Prediction N/A

 Protein domains 
ENSMUSP00000127878:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Dynein heavy chain, domain-1 Dynein_heavy_dom-1 IPR013594 ENSMUSP00000127878 Pfam 379
936 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved