Spnb4 - SNV Details



 Gene Information 
Gene Name Spnb4
Gene Description spectrin beta 4 [Source:MGI Symbol;Acc:MGI:1890574]
MGI phenotype Homozygotes for spontaneous mutations exhibit tremors, progressive ataxia with hind limb paralysis, central deafness, reduced body weight, and shortened lifespan. Males are sterile, but females may breed.
Uniprot Name
CCDS Name
Gene GO
ankyrin binding; adult behavior; membrane; axon initial segment; fertilization; cytoplasm; cell body fiber; axonogenesis; clustering of voltage-gated sodium channels; cardiac conduction; regulation of sodium ion transport; axon hillock; adherens junction; protein binding; establishment of protein localization to plasma membrane; phosphatase binding; neuronal cell body; central nervous system projection neuron axonogenesis; node of Ranvier; PML body; spectrin binding; axon; reproductive process; sensory perception of sound; adult walking behavior; nuclear matrix; transmission of nerve impulse; structural constituent of cytoskeleton; plasma membrane; positive regulation of multicellular organism growth; cellular protein localization; actin binding; negative regulation of heart rate; phospholipid binding; regulation of peptidyl-serine phosphorylation; spectrin
Homolog in other species SPTBN4
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN CEREBELLUM)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000011751
Chromosome 7
Coordinate 27,365,589     (Assembly: GRCm38)    
Ref Base A
Codon Change tTc/tAc
Var Base T
Zygosity Heterozygous
Read Depth 42
Allele Frequency
A:R0.55
T:V0.45
Amino Acid Position 780
Amino Acid Change F->Y (Phenylalanine -> Tyrosine)
Sample ID IGL02451
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 50 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved