Sgms1 - SNV Details



 Gene Information 
Gene Name Sgms1
Old Gene Names for Sgms1 9530058o11rik , Ai841905 , C80702 , Tmem23
Gene Description sphingomyelin synthase 1 [Source:MGI Symbol;Acc:MGI:2444110]
MGI phenotype Mice homozygous for a knock-out allele exhibit premature death, impaired insulin tolerance, increased insulin sensitivity, decreased insulin secretion, and abnormal pancreatic islet cell mitochondria morphology.
Uniprot Name
CCDS Name
Gene GO
Golgi trans cisterna; membrane; catalytic activity; sphingomyelin synthase activity; apoptotic process; cell growth; kinase activity; negative regulation of apoptotic process; endoplasmic reticulum; sphingomyelin biosynthetic process; protein binding; inflammatory response; nucleus; cellular response to lipopolysaccharide; cellular response to tumor necrosis factor; plasma membrane; integral to Golgi membrane; positive regulation of gene expression; ceramide cholinephosphotransferase activity
Homolog in other species SGMS1
Omim http://omim.org/entry/611573
Immgen Expression
MEDIAN/HIGH(HIGH IN BCELL GROUP, MYELOID GROUP, DC GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000040451
Chromosome 19
Coordinate 32,160,143     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 111
Allele Frequency
T:R0.41
C:V0.59
Amino Acid Change K->E (Lysine -> Glutamic acid)
Sample ID IGL02490
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 59 Other Mutations

 Predictions 
Polyphen Score 0.53
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved