Sptlc1 - SNV Details



 Human Rare Diseases 
Hereditary sensory and autonomic neuropathy type 1

 Gene Information 
Gene Name Sptlc1
Old Gene Names for Sptlc1 Aw552086 , C77762
Gene Description serine palmitoyltransferase, long chain base subunit 1 [Source:MGI Symbol;Acc:MGI:1099431]
MGI phenotype Mice homozygous for a knock-out allele exhibit prenatal lethality. Mice homozygous for a knock-out allele exhibit abnormal sphingolipid levels.
Uniprot Name
CCDS Name
Gene GO
sphinganine biosynthetic process; biosynthetic process; SPOTS complex; serine C-palmitoyltransferase activity; serine C-palmitoyltransferase complex; integral to membrane; sphingomyelin biosynthetic process; pyridoxal phosphate binding; sphingosine biosynthetic process; ceramide biosynthetic process; protein binding
Homolog in other species SPTLC1
Omim http://omim.org/entry/605712
Immgen Expression
HIGH
Gnf Expression
HIGH(HIGHER IN FERTILIZED EGG AND OOCYTES)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021468
Chromosome 13
Coordinate 53,377,298     (Assembly: GRCm38)    
Ref Base A
Codon Change Tac/Cac
Var Base G
Zygosity Heterozygous
Read Depth 10
Allele Frequency
A:R0.50
G:V0.50
Amino Acid Position 18
Amino Acid Change Y->H (Tyrosine -> Histidine)
Sample ID IGL01773
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 31 Other Mutations

 Predictions 
Polyphen Score 0.88
Polyphen Prediction Possibly damaging
Sift Score 0.31
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved