Sgce - SNV Details



 Human Rare Diseases 
Myoclonic dystonia 11

 Gene Information 
Gene Name Sgce
Gene Description sarcoglycan, epsilon [Source:MGI Symbol;Acc:MGI:1329042]
MGI phenotype Mice homozygous for a knock-out allele display significantly increased myoclonus and deficits in motor coordination and balance.
Uniprot Name
CCDS Name
Gene GO
membrane; sarcolemma; protein binding; dendrite membrane; cytoskeleton; integral component of plasma membrane; plasma membrane; dendrite; sarcoglycan complex; calcium ion binding; Golgi apparatus; dystrophin-associated glycoprotein complex
Homolog in other species SGCE
Omim http://omim.org/entry/604149
Immgen Expression
MEDIAN
Gnf Expression
MEDIAN/HIGH(LOWER IN TESTIS, FERTILIZEDEGG, OOCYTE, KIDNEY, LIVER, SPLEEN, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000004631
Chromosome 6
Coordinate 4,689,718     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 20
Allele Frequency
G:R0.55
A:V0.45
Amino Acid Change R->Stop (Arginine -> Stop)
Sample ID IGL03374
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Prediction N/A

 Availability Details 
Availability