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]
MGI phenotype Mice homozygous for a disruption in this gene display postnatal lethality, hydrocephalus, respiratory infections, situs inversus and ciliary immotility.
Uniprot Name
CCDS Name
Gene GO
ATPase activity; axonemal dynein complex; cytoplasm; microtubule-based movement; microtubule; microtubule motor activity; nucleoside-triphosphatase activity; ciliary or flagellar motility; nucleotide binding; ATP binding; cilium axoneme; dynein complex
Homolog in other species DNAH5
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022262
Chromosome 15
Coordinate 28,307,364     (Assembly: GRCm38)    
Ref Base T
Codon Change aTt/aCt
Var Base C
Zygosity Heterozygous
Read Depth 26
Allele Frequency
T:R0.62
C:V0.38
Amino Acid Position 1746
Amino Acid Change I->T (Isoleucine -> Threonine)
Sample ID IGL01904
Median Base Quality 41
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 25 Other Mutations

 Predictions 
Polyphen Score 0.02
Polyphen Prediction Benign
Sift Score 0.36
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000069751:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Dynein heavy chain, domain-2 Dynein_heavy_dom-2 IPR013602 ENSMUSP00000069751 Pfam 1398
1808 Description available Search pathways

 Availability Details 
Availability Cryopreserved