Scn3a - SNV Details



 Gene Information 
Gene Name Scn3a
Old Gene Names for Scn3a Gm1000
Gene Description sodium channel, voltage-gated, type III, alpha [Source:MGI Symbol;Acc:MGI:98249]
MGI phenotype Homozygous mutation of this gene results in lethality of most mutants by weaning. Heterozygous mice exhibit improved glucose tolerance.
Uniprot Name
CCDS Name
Gene GO
membrane; cytoplasm; voltage-gated sodium channel activity; ion channel activity; ion transport; transmembrane transport; sodium ion transport; voltage-gated sodium channel complex
Homolog in other species SCN3A
Omim http://omim.org/entry/182391
Immgen Expression
MEDIAN(HIGH IN DC GROUP)
MEDIAN(HIGH IN DC GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000057182
Chromosome 2
Coordinate 65,461,252     (Assembly: GRCm38)    
Ref Base T
Codon Change Atg/Ttg
Var Base A
Zygosity Heterozygous
Read Depth 33
Allele Frequency
T:R0.55
A:V0.46
Amino Acid Position 1717
Amino Acid Change M->L (Methionine -> Leucine)
Sample ID IGL01751
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 0.94
Polyphen Prediction Possibly damaging
Sift Score 0.04
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved