Incidental Mutation 'R4493:Dgki'
ID 330828
Institutional Source Beutler Lab
Gene Symbol Dgki
Ensembl Gene ENSMUSG00000038665
Gene Name diacylglycerol kinase, iota
Synonyms C130010K08Rik
MMRRC Submission 041748-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4493 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 36822957-37277119 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 36951796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042075] [ENSMUST00000090314] [ENSMUST00000101532] [ENSMUST00000138286] [ENSMUST00000150300]
AlphaFold D3YWQ0
Predicted Effect noncoding transcript
Transcript: ENSMUST00000031863
SMART Domains Protein: ENSMUSP00000031863
Gene: ENSMUSG00000029837

DomainStartEndE-ValueType
SCOP:d1dj8a_ 101 140 4e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000042075
SMART Domains Protein: ENSMUSP00000047858
Gene: ENSMUSG00000038665

DomainStartEndE-ValueType
C1 22 76 3.67e-1 SMART
C1 95 153 5.92e-4 SMART
DAGKc 220 344 6.73e-58 SMART
DAGKa 370 527 2.29e-92 SMART
ANK 792 822 5.53e-3 SMART
ANK 828 857 2.07e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000090314
SMART Domains Protein: ENSMUSP00000087788
Gene: ENSMUSG00000038665

DomainStartEndE-ValueType
low complexity region 10 34 N/A INTRINSIC
low complexity region 36 50 N/A INTRINSIC
low complexity region 54 116 N/A INTRINSIC
C1 173 227 3.67e-1 SMART
C1 246 304 5.92e-4 SMART
DAGKc 371 495 6.73e-58 SMART
DAGKa 521 678 2.29e-92 SMART
ANK 943 973 5.53e-3 SMART
ANK 979 1008 2.07e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000101532
SMART Domains Protein: ENSMUSP00000099071
Gene: ENSMUSG00000038665

DomainStartEndE-ValueType
low complexity region 10 34 N/A INTRINSIC
low complexity region 36 50 N/A INTRINSIC
low complexity region 54 116 N/A INTRINSIC
C1 173 227 3.67e-1 SMART
C1 246 304 5.92e-4 SMART
DAGKc 371 495 6.73e-58 SMART
DAGKa 521 678 2.29e-92 SMART
ANK 964 994 5.53e-3 SMART
ANK 1000 1029 2.07e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138286
SMART Domains Protein: ENSMUSP00000138628
Gene: ENSMUSG00000038665

DomainStartEndE-ValueType
low complexity region 10 34 N/A INTRINSIC
low complexity region 36 50 N/A INTRINSIC
low complexity region 54 116 N/A INTRINSIC
C1 173 227 1.8e-3 SMART
C1 246 304 2.9e-6 SMART
DAGKc 371 495 3.2e-60 SMART
DAGKa 521 678 1.1e-94 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143046
Predicted Effect probably benign
Transcript: ENSMUST00000150300
SMART Domains Protein: ENSMUSP00000138457
Gene: ENSMUSG00000038665

DomainStartEndE-ValueType
low complexity region 10 34 N/A INTRINSIC
low complexity region 36 50 N/A INTRINSIC
low complexity region 54 116 N/A INTRINSIC
C1 173 227 3.67e-1 SMART
C1 246 304 5.92e-4 SMART
DAGKc 371 495 6.73e-58 SMART
DAGKa 521 591 1.43e-6 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 94% (45/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the type IV diacylglycerol kinase subfamily. Diacylglycerol kinases regulate the intracellular concentration of diacylglycerol through its phosphorylation, producing phosphatidic acid. The specific role of the enzyme encoded by this gene is undetermined, however, it may play a crucial role in the production of phosphatidic acid in the retina or in recessive forms of retinal degeneration. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are grossly normal and do not develop tumors when wounded or when exposed to phorbol ester. [provided by MGI curators]
Allele List at MGI

All alleles(8) : Targeted, knock-out(1) Gene trapped(7)

Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1b T C 2: 24,542,950 (GRCm39) T1301A probably damaging Het
Ccdc141 A G 2: 76,962,641 (GRCm39) V101A probably damaging Het
Ccdc146 T C 5: 21,508,191 (GRCm39) E619G possibly damaging Het
Cfap91 T C 16: 38,162,130 (GRCm39) T4A probably benign Het
Cmya5 T C 13: 93,230,573 (GRCm39) E1505G probably benign Het
Cngb3 C A 4: 19,367,778 (GRCm39) P229Q probably damaging Het
Ctnna2 A G 6: 76,958,831 (GRCm39) V461A probably damaging Het
D430041D05Rik T C 2: 104,086,684 (GRCm39) D764G probably benign Het
Dhx36 A T 3: 62,395,925 (GRCm39) probably benign Het
Gcn1 T C 5: 115,732,203 (GRCm39) I1006T probably benign Het
Glt8d2 T A 10: 82,500,547 (GRCm39) M20L possibly damaging Het
Greb1 C A 12: 16,748,611 (GRCm39) G1122V probably benign Het
Hmcn1 A T 1: 150,577,650 (GRCm39) I2037N probably damaging Het
Hspa4l A G 3: 40,722,434 (GRCm39) I340V possibly damaging Het
Itpr3 A G 17: 27,323,586 (GRCm39) K1204E probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lyst G A 13: 13,809,968 (GRCm39) R546H probably damaging Het
Mcph1 T A 8: 18,681,752 (GRCm39) C296* probably null Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Naga A G 15: 82,216,715 (GRCm39) F259S probably damaging Het
Nes A G 3: 87,884,120 (GRCm39) E793G probably damaging Het
Nfkb2 A G 19: 46,296,878 (GRCm39) D316G probably damaging Het
Pcdha4 A T 18: 37,087,644 (GRCm39) Y609F possibly damaging Het
Pgam1 C T 19: 41,904,215 (GRCm39) A104V possibly damaging Het
Piezo2 T C 18: 63,247,134 (GRCm39) I525V probably damaging Het
Pold1 A G 7: 44,187,132 (GRCm39) V683A probably damaging Het
Poteg T C 8: 27,970,125 (GRCm39) V316A possibly damaging Het
Ppih A T 4: 119,168,042 (GRCm39) N156K probably damaging Het
Prep T C 10: 44,996,915 (GRCm39) F398L probably benign Het
Prlhr A T 19: 60,455,519 (GRCm39) M349K probably benign Het
Rtp4 A T 16: 23,428,827 (GRCm39) H30L probably benign Het
Stkld1 A G 2: 26,836,638 (GRCm39) N268S probably benign Het
Syt6 A G 3: 103,492,946 (GRCm39) E66G probably damaging Het
Tas2r129 A G 6: 132,928,317 (GRCm39) I85V probably benign Het
Tma16 C T 8: 66,936,823 (GRCm39) probably null Het
Tprn T C 2: 25,158,904 (GRCm39) S643P probably damaging Het
Trrap T C 5: 144,767,858 (GRCm39) V2605A probably benign Het
Vmn1r230 T A 17: 21,066,863 (GRCm39) N17K probably benign Het
Xkrx T C X: 133,051,745 (GRCm39) N302S possibly damaging Het
Zfp946 T A 17: 22,670,067 (GRCm39) probably null Het
Other mutations in Dgki
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00923:Dgki APN 6 36,839,391 (GRCm39) missense probably benign 0.00
IGL00951:Dgki APN 6 36,977,094 (GRCm39) missense probably damaging 0.97
IGL01087:Dgki APN 6 36,989,846 (GRCm39) missense probably damaging 1.00
IGL01396:Dgki APN 6 36,977,025 (GRCm39) missense probably damaging 1.00
IGL02113:Dgki APN 6 36,890,560 (GRCm39) splice site probably benign
IGL02174:Dgki APN 6 37,009,856 (GRCm39) missense probably damaging 1.00
IGL02215:Dgki APN 6 36,993,610 (GRCm39) missense probably damaging 1.00
IGL02353:Dgki APN 6 36,824,324 (GRCm39) missense probably damaging 1.00
IGL02360:Dgki APN 6 36,824,324 (GRCm39) missense probably damaging 1.00
IGL02662:Dgki APN 6 36,839,421 (GRCm39) splice site probably benign
IGL02891:Dgki APN 6 36,890,676 (GRCm39) missense probably benign 0.15
IGL03040:Dgki APN 6 37,126,599 (GRCm39) splice site probably benign
IGL03064:Dgki APN 6 37,126,599 (GRCm39) splice site probably benign
IGL03283:Dgki APN 6 36,914,246 (GRCm39) splice site probably benign
IGL03349:Dgki APN 6 37,074,562 (GRCm39) critical splice acceptor site probably null
H8477:Dgki UTSW 6 37,006,786 (GRCm39) splice site probably benign
PIT4151001:Dgki UTSW 6 37,040,916 (GRCm39) missense probably benign 0.00
R0392:Dgki UTSW 6 36,977,113 (GRCm39) missense probably damaging 1.00
R0630:Dgki UTSW 6 36,977,133 (GRCm39) missense probably damaging 1.00
R0718:Dgki UTSW 6 36,989,831 (GRCm39) missense probably damaging 1.00
R1420:Dgki UTSW 6 37,027,204 (GRCm39) splice site probably null
R1546:Dgki UTSW 6 37,027,138 (GRCm39) missense probably damaging 1.00
R1634:Dgki UTSW 6 36,892,425 (GRCm39) missense probably benign
R1639:Dgki UTSW 6 36,914,299 (GRCm39) missense probably damaging 1.00
R1738:Dgki UTSW 6 37,034,367 (GRCm39) missense possibly damaging 0.93
R1750:Dgki UTSW 6 36,893,369 (GRCm39) missense probably damaging 0.96
R1808:Dgki UTSW 6 37,126,509 (GRCm39) missense possibly damaging 0.84
R1834:Dgki UTSW 6 37,011,636 (GRCm39) splice site probably benign
R2001:Dgki UTSW 6 36,842,736 (GRCm39) missense possibly damaging 0.94
R2047:Dgki UTSW 6 36,890,581 (GRCm39) missense possibly damaging 0.69
R2413:Dgki UTSW 6 36,824,408 (GRCm39) missense possibly damaging 0.49
R3034:Dgki UTSW 6 37,064,605 (GRCm39) missense probably damaging 1.00
R4684:Dgki UTSW 6 37,276,781 (GRCm39) unclassified probably benign
R4727:Dgki UTSW 6 37,276,748 (GRCm39) unclassified probably benign
R5104:Dgki UTSW 6 37,126,509 (GRCm39) missense possibly damaging 0.84
R5756:Dgki UTSW 6 36,913,993 (GRCm39) intron probably benign
R6946:Dgki UTSW 6 37,276,571 (GRCm39) nonsense probably null
R8357:Dgki UTSW 6 36,827,891 (GRCm39) missense possibly damaging 0.94
R8363:Dgki UTSW 6 36,993,613 (GRCm39) missense probably damaging 1.00
R8424:Dgki UTSW 6 36,827,850 (GRCm39) missense probably benign 0.27
R8457:Dgki UTSW 6 36,827,891 (GRCm39) missense possibly damaging 0.94
R8791:Dgki UTSW 6 36,996,875 (GRCm39) missense probably damaging 1.00
R8880:Dgki UTSW 6 37,011,652 (GRCm39) intron probably benign
R8883:Dgki UTSW 6 36,993,608 (GRCm39) missense probably damaging 1.00
R9000:Dgki UTSW 6 37,074,643 (GRCm39) intron probably benign
R9221:Dgki UTSW 6 37,273,615 (GRCm39) missense probably benign 0.01
R9290:Dgki UTSW 6 37,276,780 (GRCm39) missense unknown
R9320:Dgki UTSW 6 36,892,422 (GRCm39) missense probably damaging 1.00
R9641:Dgki UTSW 6 37,126,489 (GRCm39) missense probably damaging 0.98
R9674:Dgki UTSW 6 37,027,157 (GRCm39) missense probably damaging 0.97
R9726:Dgki UTSW 6 37,276,858 (GRCm39) missense unknown
X0066:Dgki UTSW 6 37,040,932 (GRCm39) missense probably damaging 1.00
Z1177:Dgki UTSW 6 36,952,160 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACCAATCACCCTATTGTCTCG -3'
(R):5'- ATGGGTAGAGTCATTGGTCCTCC -3'

Sequencing Primer
(F):5'- GACATTCCAGGATCACGGTCTTTG -3'
(R):5'- CTGTCTGAAAACTGCAGCTG -3'
Posted On 2015-07-21