Dst - SNV Details



 Human Rare Diseases 
Hereditary sensory and autonomic neuropathy type 6
Autosomal recessive epidermolysis bullosa simplex

 Gene Information 
Gene Name Dst
Old Gene Names for Dst 2310001o04rik , A830042e19rik , Aw554249
Gene Description dystonin [Source:MGI Symbol;Acc:MGI:104627]
MGI phenotype Mutations in this gene produce peripheral nervous system demyelination resulting in impaired muscle function and shorter lifespan.
Uniprot Name
CCDS Name
Gene GO
axon part; integrin binding; regulation of microtubule polymerization or depolymerization; microtubule plus-end binding; cell cycle arrest; cytoskeleton organization; cell leading edge; hemidesmosome; axonogenesis; protein C-terminus binding; microtubule binding; cell motility; protein homodimerization activity; protein binding; nucleus; cytoskeleton; microtubule plus end; response to wounding; microtubule cytoskeleton organization; hemidesmosome assembly; intermediate filament cytoskeleton; actin cytoskeleton; microtubule cytoskeleton; maintenance of cell polarity; retrograde axon cargo transport; actin binding; calcium ion binding; cytoplasmic membrane-bounded vesicle; cytoplasmic microtubule organization; neurofilament cytoskeleton
Homolog in other species DST
Omim http://omim.org/entry/113810
Immgen Expression
LOW/MEDIAN(HIGH IN MF.RP.SP)
Gnf Expression
MEDIAN
HIGH
MEDIAN(HIGH IN NS GROUP, IMM.G1, IMM.G3, OSTEO GROUP, EPITH GROUP, EMB GROUP)
LOW/MEDIAN(HIGH IN RETINA, UMBLICALCORD, DIGIS, EPIDERMIS TISSUES,TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026131
Chromosome 1
Coordinate 34,225,693     (Assembly: GRCm38)    
Ref Base T
Codon Change aTt/aGt
Var Base G
Zygosity Heterozygous
Read Depth 21
Allele Frequency
T:R0.52
G:V0.48
Amino Acid Position 4662
Amino Acid Change I->S (Isoleucine -> Serine)
Sample ID IGL01672
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved