Kdsr - SNV Details



 Gene Information 
Gene Name Kdsr
Old Gene Names for Kdsr 6330410p18rik , 9430079b08rik , Fvt1
Gene Description 3-ketodihydrosphingosine reductase [Source:MGI Symbol;Acc:MGI:1918000]
Uniprot Name
CCDS Name
Gene GO
3-keto-sphinganine metabolic process; oxidoreductase activity; integral to membrane; endoplasmic reticulum membrane; endoplasmic reticulum; metabolic process; nucleotide binding; 3-dehydrosphinganine reductase activity; sphingolipid biosynthetic process
Homolog in other species KDSR
Immgen Expression
MEDIAN(HIGH IN DC.PDC.8-.SP, DC.PDC.8+.SP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000009905
Chromosome 1
Coordinate 106,727,694     (Assembly: GRCm38)    
Ref Base A
Codon Change Tac/Aac
Var Base T
Zygosity Heterozygous
Read Depth 19
Allele Frequency
A:R0.37
T:V0.63
Amino Acid Position 272
Amino Acid Change Y->N (Tyrosine -> Asparagine)
Sample ID IGL01375
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 0.08
Polyphen Prediction Benign
Sift Score 0.02
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved