Dnah5 - SNV Details




Date removed: 22/11/2013
 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 28,331,726     (Assembly: GRCm38)    
Ref Base C
Codon Change Cgc/Tgc
Var Base T
Zygosity Heterozygous
Read Depth 63
Allele Frequency
C:R0.60
T:V0.40
Amino Acid Position 2153
Amino Acid Change R->C (Arginine -> Cysteine)
Sample ID IGL01472
Median Base Quality 38
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 60 Other Mutations

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

 Protein domains 
ENSMUSP00000069751:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
P-loop containing nucleoside triphosphate hydrolase P-loop_NTPase IPR027417 ENSMUSP00000069751 Superfamily 1954
2165 Description available Search pathways

 Availability Details 
Availability Cryopreserved