Incidental Mutation 'R3034:Dgki'
ID 264781
Institutional Source Beutler Lab
Gene Symbol Dgki
Ensembl Gene ENSMUSG00000038665
Gene Name diacylglycerol kinase, iota
Synonyms C130010K08Rik
MMRRC Submission 040550-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3034 (G1)
Quality Score 198
Status Validated
Chromosome 6
Chromosomal Location 36822957-37277119 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 37064605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 250 (H250Y)
Ref Sequence ENSEMBL: ENSMUSP00000138457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042075] [ENSMUST00000090314] [ENSMUST00000101532] [ENSMUST00000138286] [ENSMUST00000150300]
AlphaFold D3YWQ0
Predicted Effect probably damaging
Transcript: ENSMUST00000042075
AA Change: H99Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047858
Gene: ENSMUSG00000038665
AA Change: H99Y

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 damaging
Transcript: ENSMUST00000090314
AA Change: H250Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000087788
Gene: ENSMUSG00000038665
AA Change: H250Y

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 damaging
Transcript: ENSMUST00000101532
AA Change: H250Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099071
Gene: ENSMUSG00000038665
AA Change: H250Y

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 damaging
Transcript: ENSMUST00000138286
AA Change: H250Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138628
Gene: ENSMUSG00000038665
AA Change: H250Y

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 probably damaging
Transcript: ENSMUST00000150300
AA Change: H250Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138457
Gene: ENSMUSG00000038665
AA Change: H250Y

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 0.4683 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (44/44)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12e T C 11: 70,207,079 (GRCm39) I576V probably benign Het
Apol7a T G 15: 77,273,923 (GRCm39) I180L probably benign Het
Aptx T C 4: 40,694,994 (GRCm39) N114S probably benign Het
Bltp3a T A 17: 28,113,720 (GRCm39) D1297E probably damaging Het
Cd40 T A 2: 164,904,235 (GRCm39) S65R probably benign Het
Cdh23 C T 10: 60,244,789 (GRCm39) probably benign Het
Coro7 G A 16: 4,450,155 (GRCm39) R565W probably damaging Het
Cpt1a C T 19: 3,428,390 (GRCm39) T588M probably damaging Het
Defb23 A G 2: 152,301,189 (GRCm39) S128P possibly damaging Het
Fgr T C 4: 132,725,807 (GRCm39) probably null Het
Fkbp15 T C 4: 62,225,129 (GRCm39) probably null Het
Gpr137c C T 14: 45,457,733 (GRCm39) S95L probably damaging Het
Kirrel1 T C 3: 86,990,746 (GRCm39) D692G possibly damaging Het
Krt1 C A 15: 101,759,068 (GRCm39) R32L unknown Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Mbl1 C A 14: 40,880,790 (GRCm39) S226Y probably damaging Het
Mrps28 T A 3: 8,988,675 (GRCm39) D61V probably benign Het
Mthfd1 A G 12: 76,336,244 (GRCm39) K299E probably benign Het
Myo1b A G 1: 51,812,406 (GRCm39) Y738H possibly damaging Het
Myo5c A G 9: 75,193,859 (GRCm39) T1205A probably benign Het
Nfatc2 C T 2: 168,376,940 (GRCm39) G317S probably damaging Het
Nln C T 13: 104,173,947 (GRCm39) V525I possibly damaging Het
Nrap T C 19: 56,352,437 (GRCm39) E549G probably damaging Het
Nwd2 T A 5: 63,957,446 (GRCm39) Y259N probably damaging Het
Oas3 T C 5: 120,909,121 (GRCm39) D275G probably damaging Het
Or14a256 A T 7: 86,264,970 (GRCm39) D294E possibly damaging Het
Ovch2 A G 7: 107,384,699 (GRCm39) S473P probably damaging Het
Pde8b T A 13: 95,359,275 (GRCm39) Y16F probably damaging Het
Pmfbp1 A T 8: 110,247,553 (GRCm39) probably null Het
Pmvk T C 3: 89,375,824 (GRCm39) V74A probably damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rbm26 T A 14: 105,390,881 (GRCm39) T202S unknown Het
Rheb C T 5: 25,008,721 (GRCm39) E166K probably damaging Het
Rnf5 A G 17: 34,822,332 (GRCm39) V39A possibly damaging Het
Scn7a T C 2: 66,513,152 (GRCm39) Y1168C probably damaging Het
Tas2r114 A G 6: 131,666,611 (GRCm39) I139T probably benign Het
Tma7 T C 9: 108,911,274 (GRCm39) probably benign Het
Tmem181a T A 17: 6,330,901 (GRCm39) S13T possibly damaging Het
Tmem62 C T 2: 120,809,605 (GRCm39) probably benign Het
Trim71 T C 9: 114,341,912 (GRCm39) D790G probably damaging Het
Trp53tg5 T C 2: 164,313,219 (GRCm39) K152R probably benign Het
Zdbf2 C A 1: 63,343,364 (GRCm39) A581E probably damaging 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
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'- CCCACTGCAACCATATCTGTG -3'
(R):5'- TACGGTGCGGAATGTGAATG -3'

Sequencing Primer
(F):5'- GACAGTCACTGTTTGTAAAGAATGC -3'
(R):5'- GGAGAACGAACTGCTTTTATTCTG -3'
Posted On 2015-02-05