Incidental Mutation 'R2047:Dgki'
ID 222089
Institutional Source Beutler Lab
Gene Symbol Dgki
Ensembl Gene ENSMUSG00000038665
Gene Name diacylglycerol kinase, iota
Synonyms C130010K08Rik
MMRRC Submission 040054-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2047 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 36822957-37277119 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36890581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 922 (S922P)
Ref Sequence ENSEMBL: ENSMUSP00000099071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042075] [ENSMUST00000090314] [ENSMUST00000101532] [ENSMUST00000138286] [ENSMUST00000150300]
AlphaFold D3YWQ0
Predicted Effect probably benign
Transcript: ENSMUST00000042075
AA Change: S750P

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000047858
Gene: ENSMUSG00000038665
AA Change: S750P

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 possibly damaging
Transcript: ENSMUST00000090314
AA Change: S901P

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000087788
Gene: ENSMUSG00000038665
AA Change: S901P

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 possibly damaging
Transcript: ENSMUST00000101532
AA Change: S922P

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099071
Gene: ENSMUSG00000038665
AA Change: S922P

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
Meta Mutation Damage Score 0.0698 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (57/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik A G 7: 130,747,836 (GRCm39) F52S probably damaging Het
Acot12 T C 13: 91,931,122 (GRCm39) S457P probably damaging Het
Adcy5 G A 16: 35,110,478 (GRCm39) V882M possibly damaging Het
Ahnak A G 19: 8,991,664 (GRCm39) D4316G possibly damaging Het
Aldh1l2 G A 10: 83,342,607 (GRCm39) A401V probably damaging Het
Apol7e A G 15: 77,601,810 (GRCm39) H136R probably benign Het
Arl5a A G 2: 52,302,072 (GRCm39) probably null Het
Asns G T 6: 7,680,093 (GRCm39) A341E probably damaging Het
C7 A G 15: 5,075,143 (GRCm39) L183P probably damaging Het
Cacng2 C T 15: 78,003,037 (GRCm39) A19T probably damaging Het
Ccdc121rt2 A G 5: 112,598,575 (GRCm39) N374S probably benign Het
Ccr4 A G 9: 114,321,633 (GRCm39) F144S probably damaging Het
Ckap2 A G 8: 22,658,763 (GRCm39) V660A probably benign Het
Cramp1 A T 17: 25,222,189 (GRCm39) Y176* probably null Het
Drd5 C T 5: 38,477,679 (GRCm39) S224L probably damaging Het
Ei24 T C 9: 36,691,459 (GRCm39) K341E probably benign Het
Eno2 A T 6: 124,744,659 (GRCm39) probably benign Het
Epb41l4a T C 18: 33,961,259 (GRCm39) N425S probably benign Het
F13b T G 1: 139,435,961 (GRCm39) C256G probably damaging Het
Gp6 A T 7: 4,376,270 (GRCm39) probably benign Het
H2-Q7 A T 17: 35,659,123 (GRCm39) R191S probably damaging Het
Ivns1abp T A 1: 151,227,382 (GRCm39) S63R possibly damaging Het
Kcnj16 A G 11: 110,915,946 (GRCm39) probably null Het
Lpcat4 T C 2: 112,075,142 (GRCm39) probably null Het
Lrrc14b T C 13: 74,511,561 (GRCm39) K173R probably benign Het
Maml3 C A 3: 51,597,866 (GRCm39) R939S probably damaging Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
Mrpl46 T A 7: 78,431,312 (GRCm39) Y82F probably damaging Het
Mthfs T A 9: 89,097,356 (GRCm39) I71N probably damaging Het
Nectin4 T C 1: 171,212,720 (GRCm39) V351A possibly damaging Het
Npas3 T C 12: 54,115,612 (GRCm39) F827L probably damaging Het
Nrp1 G A 8: 129,224,577 (GRCm39) probably benign Het
Ocln C A 13: 100,671,632 (GRCm39) A242S probably damaging Het
Or10ad1c T A 15: 98,084,920 (GRCm39) T253S probably damaging Het
Or13g1 G A 7: 85,956,012 (GRCm39) T103I probably damaging Het
Or5d37 A T 2: 87,924,237 (GRCm39) N14K probably benign Het
Pappa T C 4: 65,149,378 (GRCm39) probably benign Het
Ptpn6 T C 6: 124,698,752 (GRCm39) T480A probably benign Het
Pycr1 A T 11: 120,532,512 (GRCm39) D168E possibly damaging Het
Rnf6 T C 5: 146,148,674 (GRCm39) T126A probably damaging Het
Slc25a39 G A 11: 102,296,657 (GRCm39) probably benign Het
Slc35f4 G T 14: 49,541,029 (GRCm39) probably benign Het
Sppl2a C T 2: 126,768,772 (GRCm39) A112T probably damaging Het
Sptbn1 A C 11: 30,088,360 (GRCm39) probably benign Het
Sqle T C 15: 59,197,907 (GRCm39) Y376H probably benign Het
Terb1 A T 8: 105,212,094 (GRCm39) Y296N probably damaging Het
Ttbk2 T C 2: 120,579,397 (GRCm39) H506R probably damaging Het
Ttn T C 2: 76,737,879 (GRCm39) D4220G probably benign Het
Tub A G 7: 108,625,939 (GRCm39) D230G probably benign Het
Ube2d3 T A 3: 135,170,967 (GRCm39) I137K probably benign Het
Vldlr G T 19: 27,212,238 (GRCm39) C84F probably damaging Het
Vmn1r54 A T 6: 90,246,970 (GRCm39) I295F probably damaging Het
Vmn2r56 A G 7: 12,466,918 (GRCm39) S39P probably damaging Het
Zfp358 A G 8: 3,545,934 (GRCm39) H172R probably damaging Het
Zfp619 T C 7: 39,187,062 (GRCm39) C1031R probably damaging Het
Zfp777 A G 6: 48,021,280 (GRCm39) I114T probably benign 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
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
R4493:Dgki UTSW 6 36,951,796 (GRCm39) intron probably benign
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'- TGAACAGGTTACATGCCACC -3'
(R):5'- AATGATGGCTACGAAGTCCG -3'

Sequencing Primer
(F):5'- GGTTACATGCCACCACCAC -3'
(R):5'- GTCCGTGTCTAGTAAAAATGGATTCC -3'
Posted On 2014-08-25