Incidental Mutation 'R6852:Dgka'
ID 535040
Institutional Source Beutler Lab
Gene Symbol Dgka
Ensembl Gene ENSMUSG00000025357
Gene Name diacylglycerol kinase, alpha
Synonyms Dagk1
MMRRC Submission 045023-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.366) question?
Stock # R6852 (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 A at 128558408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 548 (K548M)
Ref Sequence ENSEMBL: ENSMUSP00000026414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026414] [ENSMUST00000054125] [ENSMUST00000219834]
AlphaFold O88673
Predicted Effect probably damaging
Transcript: ENSMUST00000026414
AA Change: K548M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026414
Gene: ENSMUSG00000025357
AA Change: K548M

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: ENSMUST00000054125
SMART Domains Protein: ENSMUSP00000051869
Gene: ENSMUSG00000025359

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 132 144 N/A INTRINSIC
PKD 228 310 3.17e-7 SMART
low complexity region 326 348 N/A INTRINSIC
low complexity region 377 396 N/A INTRINSIC
transmembrane domain 559 581 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000219834
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,770,930 (GRCm39) Q40* probably null Het
1700034E13Rik T C 18: 52,796,705 (GRCm39) V81A probably damaging Het
A630089N07Rik A G 16: 97,866,855 (GRCm39) I369T probably benign Het
Aatk T A 11: 119,901,294 (GRCm39) Q977L probably benign Het
Abca4 A T 3: 121,928,844 (GRCm39) Q144H probably damaging Het
Ampd3 T C 7: 110,401,753 (GRCm39) F416L probably benign Het
Anks1b A G 10: 90,096,516 (GRCm39) E425G probably damaging Het
Atm A G 9: 53,393,730 (GRCm39) S1737P possibly damaging Het
Bsph1 T A 7: 13,204,255 (GRCm39) probably null Het
Cabyr C T 18: 12,887,154 (GRCm39) P262S probably benign Het
Cdc14a G A 3: 116,122,325 (GRCm39) P214L possibly damaging Het
Cep128 C A 12: 91,333,116 (GRCm39) probably null Het
Cfh T A 1: 140,075,487 (GRCm39) R250S probably damaging Het
Ddx39a T C 8: 84,449,646 (GRCm39) I417T probably benign Het
Efr3a G A 15: 65,701,679 (GRCm39) V198I probably benign Het
Elapor1 T C 3: 108,389,654 (GRCm39) E203G probably damaging Het
Epg5 C T 18: 78,056,106 (GRCm39) T1760I probably damaging Het
Fat1 T C 8: 45,488,635 (GRCm39) V3472A possibly damaging Het
Fbxo48 T A 11: 16,903,402 (GRCm39) N9K probably benign Het
Fcgbpl1 T A 7: 27,846,560 (GRCm39) I1084N probably damaging Het
Fer1l6 A T 15: 58,466,727 (GRCm39) H833L probably damaging Het
Foxn1 G T 11: 78,251,786 (GRCm39) Q482K probably benign Het
Fstl5 A G 3: 76,615,162 (GRCm39) D741G probably damaging Het
Gmip C T 8: 70,270,641 (GRCm39) Q55* probably null Het
H2-T5 T C 17: 36,478,965 (GRCm39) N95D possibly damaging Het
Hapln2 G A 3: 87,929,958 (GRCm39) T306M possibly damaging Het
Kat6a T A 8: 23,428,676 (GRCm39) S1344T probably benign Het
Kctd1 C T 18: 15,119,401 (GRCm39) D705N possibly damaging Het
Lhx9 ACC ACCC 1: 138,769,544 (GRCm39) probably null Het
Micall2 G T 5: 139,701,548 (GRCm39) A482D possibly damaging Het
Mindy3 T A 2: 12,424,063 (GRCm39) M1L possibly damaging Het
Mtdh A G 15: 34,136,867 (GRCm39) E352G probably damaging Het
Muc5ac G A 7: 141,370,644 (GRCm39) V3219I probably benign Het
Myh4 A G 11: 67,143,794 (GRCm39) probably null Het
Ncor1 A G 11: 62,234,071 (GRCm39) I377T probably damaging Het
Oog4 C A 4: 143,165,679 (GRCm39) C156F possibly damaging Het
Or5m9 A T 2: 85,876,948 (GRCm39) I41F probably benign Het
Pcyt1a T C 16: 32,288,938 (GRCm39) S260P probably damaging Het
Phf3 A T 1: 30,843,711 (GRCm39) F1749L probably damaging Het
Prickle2 T C 6: 92,353,525 (GRCm39) D647G probably benign Het
Raver2 T C 4: 100,990,787 (GRCm39) S387P probably benign Het
Relch T C 1: 105,681,320 (GRCm39) L1184P probably damaging Het
Rgs19 A G 2: 181,330,941 (GRCm39) S231P possibly damaging Het
Rpl8 G T 15: 76,790,149 (GRCm39) R198L probably benign Het
Sacs T A 14: 61,416,737 (GRCm39) S77T possibly damaging Het
Samd14 G A 11: 94,912,280 (GRCm39) G219D probably damaging Het
Sec16a C T 2: 26,331,431 (GRCm39) V195M probably damaging Het
Sesn2 C T 4: 132,221,113 (GRCm39) V453I possibly damaging Het
Slc46a3 A T 5: 147,822,970 (GRCm39) C291S probably damaging Het
Smarcal1 A G 1: 72,630,332 (GRCm39) T129A possibly damaging Het
Sorl1 T A 9: 41,935,694 (GRCm39) R1041W possibly damaging Het
Sptlc3 T C 2: 139,408,506 (GRCm39) I207T probably benign Het
Srgap3 T C 6: 112,793,622 (GRCm39) D118G probably damaging Het
Tas2r117 T A 6: 132,779,892 (GRCm39) V10D probably benign Het
Tbcd A G 11: 121,500,206 (GRCm39) K1111E probably benign Het
Tor1aip1 A T 1: 155,911,566 (GRCm39) L139Q probably damaging Het
Trbv23 T C 6: 41,193,181 (GRCm39) V23A probably damaging Het
Ttll3 AAGTA AAGTATAGTA 6: 113,376,120 (GRCm39) probably null Het
Ttll3 GGCAAAG GGCAAAGCAAAG 6: 113,376,116 (GRCm39) probably null Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Vmn1r42 T G 6: 89,821,769 (GRCm39) T267P possibly damaging Het
Vmn2r53 C A 7: 12,340,441 (GRCm39) V11F probably damaging Het
Vmn2r67 T C 7: 84,801,361 (GRCm39) M192V probably damaging Het
Vmn2r78 T C 7: 86,603,811 (GRCm39) V663A probably damaging Het
Zdhhc1 C T 8: 106,203,704 (GRCm39) G156S possibly damaging Het
Zfp318 AGAAG AGAAGAGGAAG 17: 46,723,464 (GRCm39) probably benign Het
Zfp318 GAAGAA GAAGAAAAAGAA 17: 46,723,459 (GRCm39) probably benign Het
Zfp318 AAGAAG AAGAAGTAGAAG 17: 46,723,460 (GRCm39) probably benign Het
Zfp560 A G 9: 20,259,339 (GRCm39) C508R probably damaging Het
Zfp654 G A 16: 64,606,961 (GRCm39) L414F probably damaging Het
Zfp872 A T 9: 22,111,355 (GRCm39) Y278F probably damaging Het
Zscan20 T C 4: 128,483,515 (GRCm39) S385G probably 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
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
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'- TCTCAAGGGCTCCTATGTAGG -3'
(R):5'- CCACGTTTGACACAGAATGG -3'

Sequencing Primer
(F):5'- TCCCAGAATTTAGAACTTGGAGGC -3'
(R):5'- TTGACACAGAATGGTTAGATATGAGC -3'
Posted On 2018-09-12