Scn8a - SNV Details



 Gene Information 
Gene Name Scn8a
Old Gene Names for Scn8a C630029c19rik , Ai853486
Gene Description sodium channel, voltage-gated, type VIII, alpha [Source:MGI Symbol;Acc:MGI:103169]
MGI phenotype Spontaneous mutant homozygotes have ataxia, dystonia, muscular atrophy, progressive paralysis, Purkinje cell loss, in some cases severe head-tossing and for severe alleles, juvenile lethality. A mild, semidominant ENU allele causes deafness of variable penetrance and severity and mild tremor.
Uniprot Name
CCDS Name
Gene GO
response to toxin; muscle organ development; membrane; voltage-gated sodium channel activity; sodium channel complex; adult locomotory behavior; protein binding; neuronal cell body; neuromuscular process; ion channel activity; sensory perception of sound; adult walking behavior; ion transport; transmembrane transport; dendrite; locomotory behavior; sodium ion transport; voltage-gated sodium channel complex
Homolog in other species SCN8A
Omim http://omim.org/entry/600702
Immgen Expression
MEDIAN
Gnf Expression
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, SPINALCORDLOWER, SPINALCORDUPPER, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000023033
Chromosome 15
Coordinate 101,029,572     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 53
Allele Frequency
A:R0.40
G:V0.58
Amino Acid Change Disrupted splicing
Splice Position 6
Sample ID IGL02215
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 55 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved