Cerk - SNV Details



 Gene Information 
Gene Name Cerk
Old Gene Names for Cerk D330016d08rik , Ai848610
Gene Description ceramide kinase [Source:MGI Symbol;Acc:MGI:2386052]
MGI phenotype Mice homozygous for a null allele exhibit reduced body weight, increased susceptibility to infection and decreased neutrophil numbers.
Uniprot Name
CCDS Name
Gene GO
mitochondrion; diacylglycerol kinase activity; membrane; ceramide metabolic process; integral component of membrane; lipid phosphorylation; nucleus; NAD+ kinase activity; ceramide kinase activity; magnesium ion binding; protein kinase C-activating G-protein coupled receptor signaling pathway; ATP binding
Homolog in other species CERK
Omim http://omim.org/entry/610307
Immgen Expression
MEDIAN(HIGHER IN BCELL GROUP)
Gnf Expression
HIGH(LOWER IN TESTIS, FERTILIZEDEGG, OOCYTE, LIVER, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000035891
Chromosome 15
Coordinate 86,142,813     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 16
Allele Frequency
A:R0.62
T:V0.38
Amino Acid Change N->K (Asparagine -> Lysine)
Sample ID IGL03107
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 54 Other Mutations

 Predictions 
Polyphen Score 0.02
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved