Incidental Mutation 'R6009:Dgka'
ID 479662
Institutional Source Beutler Lab
Gene Symbol Dgka
Ensembl Gene ENSMUSG00000025357
Gene Name diacylglycerol kinase, alpha
Synonyms Dagk1
MMRRC Submission 044186-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.366) question?
Stock # R6009 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 128556003-128580724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 128559548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 471 (G471D)
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: G471D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026414
Gene: ENSMUSG00000025357
AA Change: G471D

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
Meta Mutation Damage Score 0.7923 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.5%
Validation Efficiency 100% (53/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,700,454 (GRCm39) probably benign Het
Afap1 T C 5: 36,154,904 (GRCm39) S683P probably damaging Het
Chid1 T A 7: 141,109,493 (GRCm39) D131V probably damaging Het
Clstn2 C T 9: 97,338,579 (GRCm39) R860Q probably benign Het
Crlf1 A C 8: 70,956,129 (GRCm39) K403T probably damaging Het
Ctdspl2 T G 2: 121,819,319 (GRCm39) N201K probably benign Het
Cyb561a3 G A 19: 10,564,172 (GRCm39) V171I possibly damaging Het
Dazap1 T C 10: 80,121,138 (GRCm39) probably benign Het
Dbf4 G T 5: 8,453,718 (GRCm39) Q235K probably damaging Het
Fam13b A T 18: 34,630,458 (GRCm39) F100Y possibly damaging Het
Flii A T 11: 60,611,583 (GRCm39) L376* probably null Het
Fnip1 G T 11: 54,393,097 (GRCm39) G487V probably damaging Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Golgb1 G T 16: 36,735,321 (GRCm39) A1523S probably damaging Het
Gstm4 A G 3: 107,950,659 (GRCm39) V114A possibly damaging Het
Gtf3c1 A G 7: 125,246,602 (GRCm39) F1569S possibly damaging Het
Gtf3c5 A T 2: 28,461,177 (GRCm39) D312E probably benign Het
Gtpbp1 G A 15: 79,596,297 (GRCm39) V149M probably damaging Het
Hoxa7 C T 6: 52,194,367 (GRCm39) V7M probably damaging Het
Il17f C T 1: 20,849,510 (GRCm39) probably null Het
Ints9 T C 14: 65,245,531 (GRCm39) V263A probably benign Het
Kansl1l C T 1: 66,774,759 (GRCm39) C689Y probably benign Het
Kctd7 G A 5: 130,174,039 (GRCm39) G39E probably damaging Het
Krt82 T A 15: 101,453,540 (GRCm39) D282V probably benign Het
Lemd1 G T 1: 132,155,990 (GRCm39) E11* probably null Het
Maml2 A G 9: 13,532,294 (GRCm39) T503A probably benign Het
Mief2 A G 11: 60,622,485 (GRCm39) T352A probably benign Het
Msantd1 C A 5: 35,075,049 (GRCm39) T37K probably benign Het
Mtus2 A G 5: 148,243,462 (GRCm39) E94G probably damaging Het
Naaa A T 5: 92,407,440 (GRCm39) L353Q probably benign Het
Nek5 T C 8: 22,610,838 (GRCm39) E55G probably benign Het
Npat T C 9: 53,474,749 (GRCm39) M847T probably damaging Het
Nus1 G A 10: 52,309,539 (GRCm39) V268I probably benign Het
Or51r1 A G 7: 102,227,801 (GRCm39) N33S possibly damaging Het
Parn C T 16: 13,485,428 (GRCm39) D23N probably damaging Het
Pdgfa T C 5: 138,964,954 (GRCm39) E176G probably damaging Het
Plcl1 T A 1: 55,735,405 (GRCm39) F249I probably damaging Het
Plscr5 C T 9: 92,086,488 (GRCm39) Q153* probably null Het
Polr2b T C 5: 77,468,099 (GRCm39) I133T probably benign Het
Polr3c A G 3: 96,620,930 (GRCm39) S463P probably damaging Het
Pprc1 A T 19: 46,060,171 (GRCm39) I1530L probably damaging Het
Prex1 C T 2: 166,423,904 (GRCm39) S996N probably damaging Het
Rnf169 C A 7: 99,576,330 (GRCm39) R291S possibly damaging Het
Setd5 A G 6: 113,087,480 (GRCm39) K127R probably damaging Het
Slc25a26 G T 6: 94,487,807 (GRCm39) V89L probably benign Het
Slc4a10 A G 2: 61,877,034 (GRCm39) T16A probably benign Het
Smchd1 A T 17: 71,747,951 (GRCm39) H430Q probably damaging Het
Ttll7 A T 3: 146,640,290 (GRCm39) D503V probably damaging Het
Vav2 A T 2: 27,161,912 (GRCm39) probably null Het
Zbtb47 T C 9: 121,591,937 (GRCm39) S86P possibly damaging Het
Zfp345 A T 2: 150,314,437 (GRCm39) C367S probably damaging Het
Zfp964 T A 8: 70,116,106 (GRCm39) H235Q 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
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'- ACCCCACTTATGTACCTAATTCC -3'
(R):5'- TCTGTAACAGGGTGGAAGGG -3'

Sequencing Primer
(F):5'- TGCCTGCTTAACCCACAC -3'
(R):5'- AAGGGGCAGCATGGAGC -3'
Posted On 2017-06-26