Incidental Mutation 'R7856:Dgka'
ID 607244
Institutional Source Beutler Lab
Gene Symbol Dgka
Ensembl Gene ENSMUSG00000025357
Gene Name diacylglycerol kinase, alpha
Synonyms Dagk1
MMRRC Submission 045909-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.366) question?
Stock # R7856 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 128556003-128580724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128572533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 40 (N40S)
Ref Sequence ENSEMBL: ENSMUSP00000026414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026414] [ENSMUST00000219834]
AlphaFold O88673
Predicted Effect probably benign
Transcript: ENSMUST00000026414
AA Change: N40S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026414
Gene: ENSMUSG00000025357
AA Change: N40S

DomainStartEndE-ValueType
Pfam:DAG_kinase_N 4 93 6.9e-31 PFAM
EFh 115 143 3.82e0 SMART
EFh 160 188 1.29e-4 SMART
C1 207 254 2.29e-10 SMART
C1 269 320 6.91e-5 SMART
DAGKc 372 495 3.11e-62 SMART
DAGKa 515 696 4.1e-103 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000219834
AA Change: N40S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (36/36)
MGI Phenotype 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
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1h T C 17: 25,608,451 (GRCm39) T819A probably damaging Het
Ccdc34 T A 2: 109,874,572 (GRCm39) Y310* probably null Het
Ccdc63 A G 5: 122,268,006 (GRCm39) W8R probably benign Het
Ces2g G A 8: 105,693,014 (GRCm39) V351I not run Het
Ces3b A G 8: 105,819,894 (GRCm39) *572W probably null Het
Dnajc13 C A 9: 104,044,684 (GRCm39) R1835L possibly damaging Het
Dusp7 C A 9: 106,246,067 (GRCm39) A24E unknown Het
Ep400 T A 5: 110,814,450 (GRCm39) T2931S probably damaging Het
Gm4847 A T 1: 166,462,395 (GRCm39) L365Q probably damaging Het
Gtse1 C T 15: 85,748,342 (GRCm39) T249M probably benign Het
Hook3 T C 8: 26,525,249 (GRCm39) D619G probably damaging Het
Itsn1 T A 16: 91,705,375 (GRCm39) probably null Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Mx1 A G 16: 97,256,735 (GRCm39) I148T probably damaging Het
Or5m3 T A 2: 85,838,640 (GRCm39) N173K probably damaging Het
Or6c1b A G 10: 129,272,885 (GRCm39) E68G probably damaging Het
Orc3 T C 4: 34,585,647 (GRCm39) I416V probably benign Het
Plcxd3 A T 15: 4,546,581 (GRCm39) Y195F probably damaging Het
Ppp1r3a A T 6: 14,718,025 (GRCm39) I963N probably benign Het
Ppp1r7 A G 1: 93,278,068 (GRCm39) D69G possibly damaging Het
Rars1 A G 11: 35,699,412 (GRCm39) V627A probably benign Het
Sash1 A G 10: 8,605,472 (GRCm39) S973P probably benign Het
Slc22a28 T C 19: 8,040,698 (GRCm39) T518A probably damaging Het
Slc4a9 C T 18: 36,661,751 (GRCm39) H92Y probably benign Het
Son A G 16: 91,456,146 (GRCm39) D1631G probably damaging Het
Stat5a T C 11: 100,774,728 (GRCm39) W746R unknown Het
Thsd4 A T 9: 59,910,144 (GRCm39) L508Q probably damaging Het
Tlx1 C T 19: 45,144,427 (GRCm39) Q292* probably null Het
Ttc34 T C 4: 154,945,743 (GRCm39) V259A probably benign Het
Xrn2 T G 2: 146,910,393 (GRCm39) probably null Het
Yif1b A G 7: 28,944,045 (GRCm39) D137G possibly damaging Het
Zfp850 A G 7: 27,689,899 (GRCm39) I103T probably benign Het
Zfp937 T C 2: 150,081,467 (GRCm39) V499A probably benign Het
Other mutations in Dgka
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Dgka APN 10 128,568,955 (GRCm39) missense probably damaging 1.00
IGL02479:Dgka APN 10 128,566,115 (GRCm39) missense probably benign 0.01
IGL02727:Dgka APN 10 128,558,317 (GRCm39) splice site probably benign
IGL02817:Dgka APN 10 128,566,097 (GRCm39) missense probably benign
IGL02882:Dgka APN 10 128,569,253 (GRCm39) missense possibly damaging 0.77
IGL03239:Dgka APN 10 128,557,254 (GRCm39) splice site probably benign
Caps UTSW 10 128,566,071 (GRCm39) nonsense probably null
Greenie UTSW 10 128,568,962 (GRCm39) missense probably benign 0.03
Hangup UTSW 10 128,556,356 (GRCm39) missense probably damaging 1.00
Stickem UTSW 10 128,559,548 (GRCm39) missense probably damaging 1.00
R0321:Dgka UTSW 10 128,556,952 (GRCm39) splice site probably benign
R0374:Dgka UTSW 10 128,556,952 (GRCm39) splice site probably benign
R0482:Dgka UTSW 10 128,569,990 (GRCm39) nonsense probably null
R0494:Dgka UTSW 10 128,556,952 (GRCm39) splice site probably benign
R0573:Dgka UTSW 10 128,572,876 (GRCm39) critical splice donor site probably null
R0594:Dgka UTSW 10 128,568,979 (GRCm39) splice site probably benign
R0607:Dgka UTSW 10 128,556,338 (GRCm39) splice site probably null
R0618:Dgka UTSW 10 128,556,952 (GRCm39) splice site probably benign
R0691:Dgka UTSW 10 128,559,129 (GRCm39) splice site probably benign
R1378:Dgka UTSW 10 128,571,696 (GRCm39) splice site probably null
R1424:Dgka UTSW 10 128,569,202 (GRCm39) missense possibly damaging 0.57
R1955:Dgka UTSW 10 128,566,058 (GRCm39) critical splice donor site probably null
R1972:Dgka UTSW 10 128,556,335 (GRCm39) missense probably damaging 0.99
R1998:Dgka UTSW 10 128,565,808 (GRCm39) missense probably benign 0.00
R2046:Dgka UTSW 10 128,559,404 (GRCm39) missense probably damaging 1.00
R4206:Dgka UTSW 10 128,557,064 (GRCm39) missense probably damaging 1.00
R4418:Dgka UTSW 10 128,563,963 (GRCm39) missense probably damaging 1.00
R4752:Dgka UTSW 10 128,572,528 (GRCm39) missense probably benign 0.03
R5092:Dgka UTSW 10 128,571,702 (GRCm39) missense probably damaging 0.99
R5479:Dgka UTSW 10 128,565,541 (GRCm39) critical splice acceptor site probably null
R6009:Dgka UTSW 10 128,559,548 (GRCm39) missense probably damaging 1.00
R6273:Dgka UTSW 10 128,559,515 (GRCm39) missense probably benign 0.03
R6852:Dgka UTSW 10 128,558,408 (GRCm39) missense probably damaging 1.00
R6947:Dgka UTSW 10 128,568,884 (GRCm39) missense probably damaging 1.00
R6973:Dgka UTSW 10 128,565,463 (GRCm39) splice site probably null
R7024:Dgka UTSW 10 128,556,356 (GRCm39) missense probably damaging 1.00
R7076:Dgka UTSW 10 128,569,452 (GRCm39) missense probably damaging 0.99
R7290:Dgka UTSW 10 128,569,468 (GRCm39) missense probably damaging 0.99
R7397:Dgka UTSW 10 128,556,594 (GRCm39) missense possibly damaging 0.95
R7823:Dgka UTSW 10 128,572,135 (GRCm39) missense probably benign 0.00
R8118:Dgka UTSW 10 128,558,318 (GRCm39) splice site probably null
R8360:Dgka UTSW 10 128,563,997 (GRCm39) missense probably damaging 0.99
R8374:Dgka UTSW 10 128,557,112 (GRCm39) missense probably benign 0.01
R8547:Dgka UTSW 10 128,556,881 (GRCm39) missense probably damaging 1.00
R8686:Dgka UTSW 10 128,568,962 (GRCm39) missense probably benign 0.03
R9013:Dgka UTSW 10 128,566,071 (GRCm39) nonsense probably null
R9307:Dgka UTSW 10 128,567,046 (GRCm39) missense probably damaging 1.00
R9336:Dgka UTSW 10 128,566,935 (GRCm39) critical splice donor site probably null
R9423:Dgka UTSW 10 128,557,055 (GRCm39) missense probably damaging 0.96
X0020:Dgka UTSW 10 128,557,186 (GRCm39) missense probably damaging 1.00
Z1177:Dgka UTSW 10 128,556,337 (GRCm39) missense probably benign 0.00
Z1177:Dgka UTSW 10 128,567,034 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- ACAACGGGGTCTTTACAGGG -3'
(R):5'- ATAGCCCATCATGCTGGAGC -3'

Sequencing Primer
(F):5'- GGTCTTTACAGGGGAGAAAGC -3'
(R):5'- TGGAGCCCCAGCCTCTATC -3'
Posted On 2019-12-20