Dapk1 - SNV Details



 Gene Information 
Gene Name Dapk1
Old Gene Names for Dapk1 D13ucla1 , 2810425c21rik , Ai642003 , 2310039h24rik
Gene Description death associated protein kinase 1 [Source:MGI Symbol;Acc:MGI:1916885]
MGI phenotype Mice homozygous for a knock-out allele show decreased sensitivity to ER stress-induced cell death and reduced tunicamycin-induced kidney damage. Mice homozygous for a gene trapped allele show decreased infarct size and neuronal death with improved neurological scores after ischemic brain injury.
Uniprot Name
CCDS Name
Gene GO
transferring phosphorus-containing groups
ATP binding
actin cytoskeleton
anti-apoptosis
calmodulin binding
cytoplasm
cytosol
induction of apoptosis
induction of apoptosis by extracellular signals
intracellular protein kinase cascade
nucleotide binding
Homolog in other species DAPK1
Omim http://omim.org/entry/600831
Immgen Expression
LOW/MEDIAN(HIGH IN MYELOID GOUP, DC8+.TH, DC.LC.SK)
Gnf Expression
MEDIAN/HIGH(LOWER IN TESTIS, FERTILIZEDEGG, OOCYTE, KIDNEY, LIVER, SPLEEN, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021559
Chromosome 13
Coordinate 60,761,397     (Assembly: GRCm38)    
Ref Base T
Codon Change Tac/Cac
Var Base C
Zygosity Heterozygous
Read Depth 61
Allele Frequency
T:0.39
C:0.61
Amino Acid Position 1275
Amino Acid Change Y->H (Tyrosine -> Histidine)
Sample ID IGL00903
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.13
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved