Incidental Mutation 'R1424:Dgka'
ID 161231
Institutional Source Beutler Lab
Gene Symbol Dgka
Ensembl Gene ENSMUSG00000025357
Gene Name diacylglycerol kinase, alpha
Synonyms Dagk1
MMRRC Submission 039480-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.366) question?
Stock # R1424 (G1)
Quality Score 215
Status Validated
Chromosome 10
Chromosomal Location 128556003-128580724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128569202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 177 (S177T)
Ref Sequence ENSEMBL: ENSMUSP00000152021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026414] [ENSMUST00000219834]
AlphaFold O88673
Predicted Effect probably benign
Transcript: ENSMUST00000026414
AA Change: S177T

PolyPhen 2 Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000026414
Gene: ENSMUSG00000025357
AA Change: S177T

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 noncoding transcript
Transcript: ENSMUST00000217957
Predicted Effect possibly damaging
Transcript: ENSMUST00000219834
AA Change: S177T

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
Meta Mutation Damage Score 0.1115 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 88.6%
Validation Efficiency 97% (57/59)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik C A 12: 72,939,669 (GRCm39) E415* probably null Het
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Acad12 C T 5: 121,742,385 (GRCm39) A408T probably benign Het
Acox2 T A 14: 8,230,247 (GRCm38) H632L probably benign Het
Anxa5 A T 3: 36,506,441 (GRCm39) probably null Het
Ap1m2 A T 9: 21,209,500 (GRCm39) I392N possibly damaging Het
Casp2 T C 6: 42,253,725 (GRCm39) probably benign Het
Cel C T 2: 28,449,636 (GRCm39) A243T probably damaging Het
Depp1 A G 6: 116,628,966 (GRCm39) N103S possibly damaging Het
Dnajc6 A G 4: 101,496,544 (GRCm39) T836A possibly damaging Het
Dock3 T C 9: 106,790,392 (GRCm39) S1444G probably damaging Het
Dtl T C 1: 191,293,649 (GRCm39) D176G probably benign Het
Eif4g1 T C 16: 20,497,692 (GRCm39) I230T probably benign Het
Fam227a T A 15: 79,518,309 (GRCm39) I328F probably benign Het
Fam98a A G 17: 75,847,173 (GRCm39) L179S probably damaging Het
Fgb A T 3: 82,954,070 (GRCm39) I56N probably damaging Het
Fmo1 C T 1: 162,657,635 (GRCm39) R502Q probably damaging Het
Fndc3a C T 14: 72,811,811 (GRCm39) A340T probably damaging Het
Gli3 C A 13: 15,900,899 (GRCm39) Q1429K probably benign Het
Gm3443 A T 19: 21,534,959 (GRCm39) I75F possibly damaging Het
Gtpbp6 C T 5: 110,252,155 (GRCm39) probably null Het
Gtsf1 A T 15: 103,318,070 (GRCm39) Y156* probably null Het
Hmcn1 T C 1: 150,522,545 (GRCm39) T3452A probably benign Het
Kcnj10 T A 1: 172,196,822 (GRCm39) V112E probably damaging Het
Lama3 C A 18: 12,653,048 (GRCm39) T256K probably benign Het
Lrrc8d G A 5: 105,974,782 (GRCm39) V63M unknown Het
Matn3 G T 12: 9,011,132 (GRCm39) A348S possibly damaging Het
Mmp16 A G 4: 18,112,121 (GRCm39) probably null Het
Nsd3 A G 8: 26,190,594 (GRCm39) N175S probably damaging Het
Or11h4 A T 14: 50,974,521 (GRCm39) F33I probably benign Het
Or1d2 C A 11: 74,255,780 (GRCm39) P95Q probably benign Het
Or4c35 C T 2: 89,808,415 (GRCm39) Q98* probably null Het
Or4k5 C A 14: 50,385,922 (GRCm39) M136I possibly damaging Het
Pcdhb12 T A 18: 37,571,132 (GRCm39) N759K probably benign Het
Pcsk2 T C 2: 143,415,348 (GRCm39) probably benign Het
Polq G A 16: 36,906,890 (GRCm39) D2284N probably damaging Het
Prdm12 C T 2: 31,533,823 (GRCm39) R147C probably damaging Het
Ptprz1 A G 6: 23,000,382 (GRCm39) D824G probably benign Het
Rere C T 4: 150,701,495 (GRCm39) R1292C probably damaging Het
Rptor T A 11: 119,671,419 (GRCm39) L294* probably null Het
Sbf2 A T 7: 109,914,233 (GRCm39) C1650S probably damaging Het
Sdk1 C T 5: 142,147,621 (GRCm39) T1751I probably damaging Het
Sh3bp1 T C 15: 78,787,899 (GRCm39) probably null Het
Shank2 T A 7: 143,606,109 (GRCm39) D97E probably damaging Het
Tab2 A C 10: 7,795,812 (GRCm39) S149R possibly damaging Het
Taok1 G T 11: 77,440,190 (GRCm39) R606S probably benign Het
Tas2r121 A G 6: 132,677,645 (GRCm39) L109P probably damaging Het
Tmem117 A G 15: 94,829,689 (GRCm39) M175V probably benign Het
Tmprss11b T C 5: 86,812,832 (GRCm39) K155E probably benign Het
Tmtc2 G T 10: 105,249,229 (GRCm39) T168N probably benign Het
Top2b G A 14: 16,383,177 (GRCm38) R55H probably damaging Het
Tsga10ip C T 19: 5,440,942 (GRCm39) probably null Het
Tuba8 A G 6: 121,197,470 (GRCm39) N44S probably benign Het
Ube2o A G 11: 116,434,558 (GRCm39) V590A probably benign Het
Ush2a T G 1: 188,275,075 (GRCm39) probably null Het
Vmn2r23 T A 6: 123,690,229 (GRCm39) Y368* probably null 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
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
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'- AGGCTAATCCCTGGTTCTCTGGTG -3'
(R):5'- GATGCGAGTGGCCGAATATCTAGAC -3'

Sequencing Primer
(F):5'- TATATTCCAAGACCGCACTCGC -3'
(R):5'- CCGAATATCTAGACTGGGATGTG -3'
Posted On 2014-03-14