Kif5a - SNV Details



 Human Rare Diseases 
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Autosomal dominant spastic paraplegia type 10

 Gene Information 
Gene Name Kif5a
Old Gene Names for Kif5a Kns , Kif5 , D10bwg0738e
Gene Description kinesin family member 5A [Source:MGI Symbol;Acc:MGI:109564]
MGI phenotype Homozygotes for a targeted null mutation die at birth. Most mutants for a postnatal conditional knockout allele exhibit fatal seizures around 3 weeks of age, but about 1/4 survive to 3 months or older.
Uniprot Name
CCDS Name
Gene GO
axon part; perinuclear region of cytoplasm; ciliary rootlet; cytoplasm; microtubule-based movement; microtubule; kinesin complex; microtubule motor activity; protein binding; microtubule associated complex; ATP binding; neuron projection
Homolog in other species KIF5A
Omim http://omim.org/entry/602821
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGH IN NS GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000074657
Chromosome 10
Coordinate 127,243,499     (Assembly: GRCm38)    
Ref Base C
Codon Change Gtg/Atg
Var Base T
Zygosity Heterozygous
Read Depth 58
Allele Frequency
C:R0.47
T:V0.53
Amino Acid Position 277
Amino Acid Change V->M (Valine -> Methionine)
Sample ID IGL02052
Median Base Quality 39.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

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

 Availability Details 
Availability Line Propagating , Progeny Cryopreserved , Cryopreserved