|Institutional Source||Beutler Lab|
|Gene Name||diacylglycerol kinase, alpha|
|Is this an essential gene?||Possibly non essential (E-score: 0.356)|
|Stock #||R4418 (G1)|
|Chromosomal Location||128720134-128744855 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 128728094 bp|
|Amino Acid Change||Leucine to Glutamine at position 462 (L462Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026414 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026414] [ENSMUST00000219834]|
|Predicted Effect||probably damaging
AA Change: L462Q
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L462Q
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.9483|
|Coding Region Coverage||
|Validation Efficiency||95% (72/76)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It acts as a modulator that competes with protein kinase C for the second messenger diacylglycerol in intracellular signaling pathways. It also plays an important role in the resynthesis of phosphatidylinositols and phosphorylating diacylglycerol to phosphatidic acid. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in impaired induction of T cell anergy. T cells stimulated in anergy producing conditions show increased proliferation and interleukin 2 production. Mice homozygous for a transgenic gene disruption exhibit male infertility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dgka||
(F):5'- AGCTTGGACCCAGTTTTGTG -3'
(R):5'- GCTGGGTTCTAGAGACCATTGG -3'
(F):5'- ACTGTGTACCAAGTGTCTGCAGTAC -3'
(R):5'- ACCATTGGTCAGTGCAGG -3'