Dnah6 - SNV Details



 Gene Information 
Gene Name Dnah6
Old Gene Names for Dnah6 A730004i20rik , Dnahc6
Gene Description dynein, axonemal, heavy chain 6 [Source:MGI Symbol;Acc:MGI:107744]
Uniprot Name
CCDS Name
Gene GO
ATPase activity; microtubule-based movement; microtubule motor activity; nucleoside-triphosphatase activity; cellular_component; nucleotide binding; ATP binding; biological_process; dynein complex; molecular_function
Homolog in other species LOC200383
Immgen Expression
LOW
LOW
MEDIAN(HIGH IN GN.BM)
Gnf Expression
MEDIAN
MEDIAN(HIGHER IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000052861
Chromosome 6
Coordinate 73,065,725     (Assembly: GRCm38)    
Ref Base G
Codon Change gCc/gTc
Var Base A
Zygosity Heterozygous
Read Depth 40
Allele Frequency
G:R0.52
A:V0.48
Amino Acid Position 3290
Amino Acid Change A->V (Alanine -> Valine)
Sample ID IGL01307
Median Base Quality 35.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved