Scn5a - SNV Details

 Human Rare Diseases 
Atrial cardiomyopathy with heart block
Romano-Ward syndrome
Familial isolated dilated cardiomyopathy
Idiopathic ventricular fibrillation, not Brugada type
Familial progressive cardiac conduction defect
Familial atrial fibrillation
Brugada syndrome
Sick sinus syndrome

 Gene Information 
Gene Name Scn5a
Gene Description sodium channel, voltage-gated, type V, alpha [Source:MGI Symbol;Acc:MGI:98251]
MGI phenotype Mice homozygous for mutations in this gene die prenatally usually during organogenesis. Heterozygous mice typically display abnormal heartbeats and defects in the function of the impulse conduction system.
Uniprot Name
Gene GO
membrane depolarization during cardiac muscle cell action potential; voltage-gated sodium channel activity involved in SA node cell action potential; regulation of ion transmembrane transport; membrane; voltage-gated sodium channel activity involved in cardiac muscle cell action potential; sodium ion transmembrane transport; voltage-gated sodium channel activity; regulation of heart rate by cardiac conduction; neuronal action potential; sodium channel complex; T-tubule; protein binding; cell surface; integral component of membrane; regulation of cardiac muscle cell contraction; scaffold protein binding; ion channel activity; intercalated disc; response to organic cyclic compound; calmodulin binding; ion transport; cellular response to calcium ion; transmembrane transport; plasma membrane; membrane depolarization during SA node cell action potential; cardiac ventricle development; sodium ion transport; voltage-gated sodium channel complex
Homolog in other species SCN5A
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032511
Chromosome 9
Coordinate 119,522,566     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 30
Allele Frequency
Amino Acid Change I->N (Isoleucine -> Asparagine)
Sample ID IGL03188
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved