Kif5a - SNV Details



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

 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
perinuclear region of cytoplasm; membrane; microtubule-based movement; microtubule; microtubule binding; kinesin complex; microtubule motor activity; metabolic process; protein binding; ATP binding
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 Splice
Ensembl ID ENSMUSG00000074657
Chromosome 10
Coordinate 127,235,609     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 28
Allele Frequency
A:R0.64
T:V0.36
Amino Acid Change Disrupted splicing
Splice Position 8
Sample ID IGL03101
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved