Kif26a - SNV Details



 Gene Information 
Gene Name Kif26a
Gene Description kinesin family member 26A [Source:MGI Symbol;Acc:MGI:2447072]
MGI phenotype Mice homozygous for a knock-out allele exhibit premature death associated with megacolon and hyperganglionosis.
Uniprot Name
CCDS Name
Gene GO
cytoplasm; microtubule-based movement; microtubule; microtubule binding; microtubule motor activity; regulation of cell growth by extracellular stimulus; protein binding; microtubule associated complex; ATP binding; negative regulation of signal transduction; enteric nervous system development
Homolog in other species KIF26A
Omim http://omim.org/entry/613231
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(HIGH IN EMB GROUP, PLACENTA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021294
Chromosome 12
Coordinate 112,176,894     (Assembly: GRCm38)    
Ref Base C
Codon Change cCg/cTg
Var Base T
Zygosity Heterozygous
Read Depth 23
Allele Frequency
C:R0.30
T:V0.70
Amino Acid Position 1194
Amino Acid Change P->L (Proline -> Leucine)
Sample ID IGL01916
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 55 Other Mutations

 Predictions 
Polyphen Score 0.46
Polyphen Prediction Possibly damaging
Sift Score 0.16
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved