Dgkq - SNV Details



 Gene Information 
Gene Name Dgkq
Old Gene Names for Dgkq Dgkd
Gene Description diacylglycerol kinase, theta [Source:MGI Symbol;Acc:MGI:102918]
Uniprot Name
CCDS Name
Gene GO
diacylglycerol kinase activity; intracellular signal transduction; cytoplasm; signal transduction; metal ion binding; response to ATP; phosphorylation; regulation of transcription from RNA polymerase II promoter; protein binding; nuclear speck; kinase binding; nucleus; cAMP-mediated signaling; NAD+ kinase activity; thrombin receptor signaling pathway; cytosol; cytoskeleton; protein kinase C-activating G-protein coupled receptor signaling pathway; G-protein coupled receptor signaling pathway; phospholipase binding; activating transcription factor binding; ATP binding; plasma membrane; protein kinase C signaling
Homolog in other species DGKQ
Omim http://omim.org/entry/601207
Immgen Expression
MEDIAN
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000004815
Chromosome 5
Coordinate 108,656,421     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 34
Allele Frequency
T:R0.44
A:V0.56
Amino Acid Change Disrupted splicing
Splice Position 3
Sample ID IGL02966
Median Base Quality 35.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 60 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved