Incidental Mutation 'R7290:Dgka'
ID 566332
Institutional Source Beutler Lab
Gene Symbol Dgka
Ensembl Gene ENSMUSG00000025357
Gene Name diacylglycerol kinase, alpha
Synonyms Dagk1
MMRRC Submission 045362-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.366) question?
Stock # R7290 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 128556003-128580724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128569468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 148 (E148G)
Ref Sequence ENSEMBL: ENSMUSP00000026414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026414] [ENSMUST00000219834]
AlphaFold O88673
Predicted Effect probably damaging
Transcript: ENSMUST00000026414
AA Change: E148G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026414
Gene: ENSMUSG00000025357
AA Change: E148G

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 possibly damaging
Transcript: ENSMUST00000219834
AA Change: E148G

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T A 11: 109,921,714 (GRCm39) M1447L probably benign Het
Adam30 G A 3: 98,070,257 (GRCm39) V697I probably benign Het
Adamts12 A G 15: 11,277,452 (GRCm39) N689D probably benign Het
Adamts15 T C 9: 30,813,906 (GRCm39) K753R probably benign Het
Adra2a T C 19: 54,034,835 (GRCm39) F64L probably damaging Het
Ankub1 A G 3: 57,580,345 (GRCm39) L104P probably damaging Het
Arel1 A G 12: 84,988,719 (GRCm39) V10A probably benign Het
Atad2 A T 15: 57,962,047 (GRCm39) N1165K probably benign Het
Atp6v0d2 T A 4: 19,880,060 (GRCm39) D279V probably benign Het
Cadps A T 14: 12,616,099 (GRCm38) D310E probably damaging Het
Caskin2 T C 11: 115,695,615 (GRCm39) I249V possibly damaging Het
Cdh23 T C 10: 60,212,620 (GRCm39) N1598S probably benign Het
Cep250 A T 2: 155,834,682 (GRCm39) Q2202H probably benign Het
Ces5a T A 8: 94,261,311 (GRCm39) T35S probably damaging Het
Cnot11 G A 1: 39,579,020 (GRCm39) W295* probably null Het
Cntnap5a G T 1: 116,149,619 (GRCm39) W565L probably damaging Het
Dnah14 G A 1: 181,455,739 (GRCm39) D955N probably benign Het
Erbin G A 13: 103,998,834 (GRCm39) T184I probably damaging Het
Fam20c G T 5: 138,793,309 (GRCm39) G477W probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fgfr4 T C 13: 55,309,262 (GRCm39) V433A probably benign Het
Gal3st1 A T 11: 3,948,093 (GRCm39) Q100L possibly damaging Het
Gfra2 T C 14: 71,163,380 (GRCm39) F221S probably damaging Het
Gm19965 G A 1: 116,748,921 (GRCm39) V201M Het
Gnb1l A T 16: 18,382,806 (GRCm39) T282S probably benign Het
Gpr171 A T 3: 59,005,147 (GRCm39) N209K probably benign Het
Greb1 G A 12: 16,761,739 (GRCm39) T547I probably damaging Het
Ifi214 A T 1: 173,357,097 (GRCm39) V2E probably benign Het
Ighv1-71 T C 12: 115,706,267 (GRCm39) M1V probably null Het
Itm2b C T 14: 73,605,785 (GRCm39) G67D probably damaging Het
Kif21a A T 15: 90,851,432 (GRCm39) C995* probably null Het
Kifc2 A T 15: 76,544,904 (GRCm39) Y13F probably damaging Het
Lamb1 T A 12: 31,315,595 (GRCm39) V59D probably benign Het
Lhx1 A T 11: 84,412,703 (GRCm39) D163E probably damaging Het
Lrrc1 A T 9: 77,365,121 (GRCm39) Y187N probably benign Het
Map3k1 C A 13: 111,904,645 (GRCm39) V380F probably damaging Het
Mapk11 T C 15: 89,028,511 (GRCm39) D283G probably damaging Het
Mccc2 G T 13: 100,091,207 (GRCm39) A430D probably damaging Het
Mest A G 6: 30,747,158 (GRCm39) N340S unknown Het
Mms22l T C 4: 24,517,139 (GRCm39) L340P probably benign Het
Mrnip A G 11: 50,087,808 (GRCm39) Y110C possibly damaging Het
Mtmr4 A G 11: 87,502,063 (GRCm39) T706A probably benign Het
Muc21 G A 17: 35,929,761 (GRCm39) A1475V unknown Het
Ncstn A G 1: 171,900,373 (GRCm39) F234S probably benign Het
Nrp1 T C 8: 129,202,777 (GRCm39) probably null Het
Nup37 T G 10: 88,010,356 (GRCm39) C217G probably damaging Het
Or8g22 A G 9: 38,958,694 (GRCm39) L7P unknown Het
Pdzrn3 T C 6: 101,128,206 (GRCm39) N820S probably benign Het
Pgap1 A T 1: 54,587,225 (GRCm39) F117Y possibly damaging Het
Phip A T 9: 82,753,346 (GRCm39) F1799L possibly damaging Het
Ppm1f T A 16: 16,728,819 (GRCm39) F74I probably benign Het
Prpf8 C A 11: 75,384,783 (GRCm39) N775K possibly damaging Het
Ptdss2 T C 7: 140,731,693 (GRCm39) I167T possibly damaging Het
Ptpn18 G A 1: 34,501,892 (GRCm39) probably null Het
Rbl2 C A 8: 91,841,669 (GRCm39) A955D probably benign Het
Rgl1 A G 1: 152,420,146 (GRCm39) S366P possibly damaging Het
Rit2 A T 18: 31,376,221 (GRCm39) M38K possibly damaging Het
Robo1 A G 16: 72,801,408 (GRCm39) M1011V probably benign Het
Senp6 A T 9: 80,043,797 (GRCm39) E809D probably benign Het
Stard3 G A 11: 98,269,045 (GRCm39) probably null Het
Taar3 T G 10: 23,826,298 (GRCm39) Y281* probably null Het
Tacc2 G T 7: 130,331,103 (GRCm39) K352N probably benign Het
Tamalin G A 15: 101,129,419 (GRCm39) S234N probably damaging Het
Tasor T A 14: 27,160,610 (GRCm39) I124N probably damaging Het
Tdpoz4 G A 3: 93,704,155 (GRCm39) V151I not run Het
Tenm2 A G 11: 35,914,298 (GRCm39) L2413P probably damaging Het
Tgm6 T C 2: 129,983,110 (GRCm39) V233A probably damaging Het
Tlx3 G A 11: 33,153,514 (GRCm39) probably benign Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Trim23 C A 13: 104,323,941 (GRCm39) H133Q probably damaging Het
Unc80 A T 1: 66,640,356 (GRCm39) D1421V probably damaging Het
Vmn1r172 A G 7: 23,360,048 (GRCm39) N311S unknown Het
Vps25 T A 11: 101,149,775 (GRCm39) L153Q probably damaging Het
Wbp1l G T 19: 46,611,876 (GRCm39) probably benign Het
Ythdc2 A G 18: 44,970,558 (GRCm39) I291V possibly damaging Het
Zfp2 A G 11: 50,791,570 (GRCm39) C158R probably damaging Het
Zfp786 G A 6: 47,796,929 (GRCm39) P670S probably damaging Het
Zfp827 G A 8: 79,916,442 (GRCm39) R339H possibly damaging Het
Zmym6 C T 4: 127,017,294 (GRCm39) A1025V possibly damaging 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
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
R7856:Dgka UTSW 10 128,572,533 (GRCm39) missense probably benign
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'- CTGAAGGATCTGATCAGACAGG -3'
(R):5'- AATACTTACTTGTCAGAGGTACCTGAG -3'

Sequencing Primer
(F):5'- TCAGACAGGAAGAAAGGCCTTTG -3'
(R):5'- TACCTGAGAACAAGAGGTGATTCTG -3'
Posted On 2019-06-26