Incidental Mutation 'R0730:Dgkh'
ID 67504
Institutional Source Beutler Lab
Gene Symbol Dgkh
Ensembl Gene ENSMUSG00000034731
Gene Name diacylglycerol kinase, eta
Synonyms 5930402B05Rik
MMRRC Submission 038911-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0730 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 78796789-78970169 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78821919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 865 (I865V)
Ref Sequence ENSEMBL: ENSMUSP00000154554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074729] [ENSMUST00000226342] [ENSMUST00000227537] [ENSMUST00000227767] [ENSMUST00000228362]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000074729
AA Change: I998V

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000074290
Gene: ENSMUSG00000034731
AA Change: I998V

DomainStartEndE-ValueType
low complexity region 12 32 N/A INTRINSIC
PH 63 157 1.91e-19 SMART
C1 173 222 1.35e-16 SMART
C1 245 295 1.66e-7 SMART
DAGKc 329 454 3.11e-62 SMART
low complexity region 654 667 N/A INTRINSIC
low complexity region 715 730 N/A INTRINSIC
DAGKa 762 919 1.74e-92 SMART
low complexity region 1124 1134 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226342
AA Change: I998V

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000227537
Predicted Effect possibly damaging
Transcript: ENSMUST00000227767
AA Change: I865V

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably damaging
Transcript: ENSMUST00000228362
AA Change: I865V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Meta Mutation Damage Score 0.1189 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency 99% (99/100)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Variation in this gene has been associated with bipolar disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 A T 8: 25,486,774 (GRCm39) I168N probably benign Het
Adamts20 G A 15: 94,245,571 (GRCm39) A577V probably benign Het
Agtr1a A T 13: 30,565,279 (GRCm39) S115C probably damaging Het
Ankrd11 T C 8: 123,618,692 (GRCm39) Y1720C probably damaging Het
Ano6 A T 15: 95,818,252 (GRCm39) T353S probably damaging Het
App A G 16: 84,876,840 (GRCm39) F184L probably damaging Het
Arhgef38 T A 3: 132,843,232 (GRCm39) Y446F probably benign Het
Aspg T A 12: 112,078,693 (GRCm39) Y57* probably null Het
Atp1a4 G A 1: 172,067,774 (GRCm39) probably benign Het
Bdp1 G A 13: 100,195,459 (GRCm39) probably benign Het
Bicd2 T A 13: 49,531,717 (GRCm39) S246T possibly damaging Het
Brd10 T A 19: 29,695,381 (GRCm39) I1438F probably benign Het
Bsn T A 9: 107,984,011 (GRCm39) M3348L unknown Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cacna2d3 T C 14: 28,704,322 (GRCm39) I820V probably benign Het
Cdc40 A G 10: 40,720,952 (GRCm39) probably benign Het
Cdh23 T C 10: 60,159,493 (GRCm39) E2094G probably damaging Het
Celsr2 T A 3: 108,305,922 (GRCm39) N2061Y probably damaging Het
Cfap206 G A 4: 34,711,391 (GRCm39) A502V probably benign Het
Cfap54 T C 10: 92,870,599 (GRCm39) T29A probably benign Het
Cfap57 T C 4: 118,470,117 (GRCm39) probably null Het
Chd5 A G 4: 152,432,441 (GRCm39) E43G possibly damaging Het
Clk1 G A 1: 58,453,558 (GRCm39) H343Y probably benign Het
Cntn4 A C 6: 106,527,447 (GRCm39) K443T probably damaging Het
Csn2 G A 5: 87,842,811 (GRCm39) A72V possibly damaging Het
Ctdp1 T A 18: 80,493,457 (GRCm39) H346L probably benign Het
Ctif A T 18: 75,698,083 (GRCm39) N192K probably damaging Het
Ddr2 G A 1: 169,823,135 (GRCm39) A383V probably benign Het
Derl3 C T 10: 75,731,076 (GRCm39) probably benign Het
Dip2b C T 15: 100,069,532 (GRCm39) A619V probably damaging Het
Elapor1 T A 3: 108,376,851 (GRCm39) H509L probably benign Het
Eml1 A G 12: 108,496,585 (GRCm39) T614A possibly damaging Het
Eogt G C 6: 97,092,970 (GRCm39) Y402* probably null Het
Erbb4 A G 1: 68,298,449 (GRCm39) V647A probably damaging Het
Esm1 G T 13: 113,350,036 (GRCm39) probably null Het
Fbxo31 A G 8: 122,282,103 (GRCm39) probably benign Het
Fbxw5 T A 2: 25,394,630 (GRCm39) D201E possibly damaging Het
Fgfr1 G A 8: 26,045,760 (GRCm39) D123N probably benign Het
G530012D18Rik A C 1: 85,504,757 (GRCm39) probably benign Het
Gnat1 G A 9: 107,556,662 (GRCm39) T29I probably damaging Het
Gtf2ird2 A T 5: 134,221,597 (GRCm39) R67* probably null Het
Il22b A T 10: 118,130,142 (GRCm39) D87E probably benign Het
Kcnq3 T C 15: 65,867,457 (GRCm39) T729A probably benign Het
Klrc2 A T 6: 129,635,659 (GRCm39) S156R probably damaging Het
Krt76 A T 15: 101,795,784 (GRCm39) L462Q probably damaging Het
Lama3 C A 18: 12,589,907 (GRCm39) probably benign Het
Lin28a A T 4: 133,735,319 (GRCm39) S56T probably damaging Het
Macf1 A G 4: 123,276,323 (GRCm39) probably benign Het
Macrod2 C T 2: 142,059,594 (GRCm39) probably benign Het
Mansc1 C T 6: 134,594,424 (GRCm39) probably benign Het
Map1b G T 13: 99,566,274 (GRCm39) S2149* probably null Het
Mgst1 A T 6: 138,124,667 (GRCm39) T34S probably benign Het
Mlf2 C T 6: 124,911,354 (GRCm39) T123M probably damaging Het
Mospd2 C T X: 163,731,253 (GRCm39) probably benign Het
Mrpl15 A T 1: 4,847,834 (GRCm39) V155E probably damaging Het
Mstn A T 1: 53,100,953 (GRCm39) Y10F possibly damaging Het
Myo1g C T 11: 6,470,794 (GRCm39) V21M probably damaging Het
Myom2 T C 8: 15,149,326 (GRCm39) I599T probably benign Het
Ndc80 A T 17: 71,803,241 (GRCm39) N633K probably benign Het
Nhs C A X: 160,620,296 (GRCm39) V1487L possibly damaging Het
Npc1 T C 18: 12,352,382 (GRCm39) T106A probably benign Het
Nup133 C T 8: 124,675,747 (GRCm39) V57M probably benign Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Oprm1 T C 10: 6,782,652 (GRCm39) probably benign Het
Or5j1 T C 2: 86,879,492 (GRCm39) I29M probably benign Het
Or6c219 T A 10: 129,780,980 (GRCm39) H317L probably benign Het
Or8j3 A G 2: 86,029,069 (GRCm39) V9A probably benign Het
Ostf1 C T 19: 18,581,571 (GRCm39) V14I unknown Het
Pcdhb14 C A 18: 37,581,921 (GRCm39) D342E probably damaging Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pdpr T C 8: 111,852,387 (GRCm39) probably null Het
Plce1 G A 19: 38,705,135 (GRCm39) V847M probably damaging Het
Pon3 A G 6: 5,230,444 (GRCm39) M288T probably benign Het
Psd2 A T 18: 36,111,627 (GRCm39) D84V possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ralgapa1 T C 12: 55,712,448 (GRCm39) K1808E probably damaging Het
Ramp3 T C 11: 6,626,476 (GRCm39) probably benign Het
Rasgrf1 T A 9: 89,833,062 (GRCm39) probably benign Het
Rictor A G 15: 6,803,467 (GRCm39) probably benign Het
Rptor A T 11: 119,775,780 (GRCm39) I984F probably benign Het
Slc1a6 C T 10: 78,631,842 (GRCm39) P223S probably benign Het
Taar8b A C 10: 23,967,924 (GRCm39) V90G probably damaging Het
Tbc1d21 A G 9: 58,267,160 (GRCm39) V327A probably benign Het
Tex21 T C 12: 76,250,940 (GRCm39) T499A probably benign Het
Tg A T 15: 66,550,638 (GRCm39) D256V probably damaging Het
Tmf1 A G 6: 97,153,453 (GRCm39) S207P probably benign Het
Tpr A G 1: 150,269,158 (GRCm39) probably benign Het
Ufd1 A G 16: 18,633,637 (GRCm39) T21A probably damaging Het
Unc13a T C 8: 72,108,929 (GRCm39) D115G possibly damaging Het
Usb1 T A 8: 96,070,669 (GRCm39) F198L probably damaging Het
Utrn A T 10: 12,573,902 (GRCm39) probably benign Het
Vars1 A G 17: 35,233,276 (GRCm39) N954S probably damaging Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Wdr33 C T 18: 31,968,429 (GRCm39) probably benign Het
Zfp236 A G 18: 82,658,369 (GRCm39) probably benign Het
Zfp445 A T 9: 122,690,823 (GRCm39) V124E probably damaging Het
Zfp616 A T 11: 73,975,648 (GRCm39) H639L probably damaging Het
Zfyve16 C A 13: 92,657,985 (GRCm39) S642I probably damaging Het
Zswim5 C T 4: 116,842,943 (GRCm39) T896I possibly damaging Het
Other mutations in Dgkh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00654:Dgkh APN 14 78,847,033 (GRCm39) missense possibly damaging 0.92
IGL00767:Dgkh APN 14 78,824,701 (GRCm39) splice site probably benign
IGL00787:Dgkh APN 14 78,855,954 (GRCm39) splice site probably benign
IGL01503:Dgkh APN 14 78,853,710 (GRCm39) missense possibly damaging 0.96
IGL02308:Dgkh APN 14 78,825,016 (GRCm39) missense probably benign 0.01
IGL02707:Dgkh APN 14 78,823,091 (GRCm39) missense possibly damaging 0.75
IGL02987:Dgkh APN 14 78,827,312 (GRCm39) critical splice donor site probably null
IGL03058:Dgkh APN 14 78,865,237 (GRCm39) missense probably benign 0.23
IGL03341:Dgkh APN 14 78,832,931 (GRCm39) splice site probably benign
PIT1430001:Dgkh UTSW 14 78,818,953 (GRCm39) missense probably damaging 1.00
PIT4445001:Dgkh UTSW 14 78,813,382 (GRCm39) missense possibly damaging 0.91
R0153:Dgkh UTSW 14 78,807,569 (GRCm39) nonsense probably null
R1136:Dgkh UTSW 14 78,862,329 (GRCm39) missense probably damaging 1.00
R1162:Dgkh UTSW 14 78,861,891 (GRCm39) missense probably damaging 1.00
R1689:Dgkh UTSW 14 78,855,984 (GRCm39) missense possibly damaging 0.86
R1771:Dgkh UTSW 14 78,846,967 (GRCm39) missense probably damaging 1.00
R1861:Dgkh UTSW 14 78,816,232 (GRCm39) missense probably benign 0.04
R1916:Dgkh UTSW 14 78,832,663 (GRCm39) missense probably damaging 0.97
R1930:Dgkh UTSW 14 78,853,945 (GRCm39) missense probably damaging 1.00
R1931:Dgkh UTSW 14 78,853,945 (GRCm39) missense probably damaging 1.00
R1956:Dgkh UTSW 14 78,855,981 (GRCm39) missense probably damaging 1.00
R2007:Dgkh UTSW 14 78,840,489 (GRCm39) missense probably benign 0.09
R3747:Dgkh UTSW 14 78,821,885 (GRCm39) missense probably damaging 1.00
R4446:Dgkh UTSW 14 78,865,523 (GRCm39) missense probably damaging 1.00
R4475:Dgkh UTSW 14 78,827,318 (GRCm39) missense possibly damaging 0.80
R4965:Dgkh UTSW 14 78,861,861 (GRCm39) missense probably damaging 1.00
R4970:Dgkh UTSW 14 78,856,077 (GRCm39) missense probably damaging 1.00
R5071:Dgkh UTSW 14 78,841,972 (GRCm39) missense probably damaging 1.00
R5652:Dgkh UTSW 14 78,865,201 (GRCm39) missense probably damaging 1.00
R5726:Dgkh UTSW 14 78,862,342 (GRCm39) missense probably benign 0.16
R5773:Dgkh UTSW 14 78,832,895 (GRCm39) missense probably damaging 1.00
R5855:Dgkh UTSW 14 78,861,944 (GRCm39) critical splice acceptor site probably null
R6041:Dgkh UTSW 14 78,825,067 (GRCm39) missense probably damaging 1.00
R6192:Dgkh UTSW 14 78,865,504 (GRCm39) nonsense probably null
R6868:Dgkh UTSW 14 78,862,293 (GRCm39) missense probably damaging 0.99
R6981:Dgkh UTSW 14 78,865,182 (GRCm39) nonsense probably null
R7095:Dgkh UTSW 14 78,865,224 (GRCm39) missense probably benign 0.07
R7473:Dgkh UTSW 14 78,836,483 (GRCm39) missense probably benign 0.00
R7495:Dgkh UTSW 14 78,816,239 (GRCm39) missense probably benign
R7711:Dgkh UTSW 14 78,962,459 (GRCm39) missense probably benign
R7727:Dgkh UTSW 14 78,832,585 (GRCm39) critical splice donor site probably null
R7823:Dgkh UTSW 14 78,841,921 (GRCm39) missense probably benign
R7846:Dgkh UTSW 14 78,856,026 (GRCm39) missense probably damaging 0.99
R7967:Dgkh UTSW 14 78,857,256 (GRCm39) missense probably benign 0.10
R8085:Dgkh UTSW 14 78,824,558 (GRCm39) critical splice donor site probably null
R8285:Dgkh UTSW 14 78,865,566 (GRCm39) missense probably benign 0.18
R8669:Dgkh UTSW 14 78,962,459 (GRCm39) missense probably benign
R9069:Dgkh UTSW 14 78,853,957 (GRCm39) missense probably damaging 1.00
R9187:Dgkh UTSW 14 78,832,601 (GRCm39) missense probably damaging 0.97
R9225:Dgkh UTSW 14 78,962,507 (GRCm39) missense probably damaging 0.98
R9410:Dgkh UTSW 14 78,862,293 (GRCm39) missense probably damaging 0.99
R9615:Dgkh UTSW 14 78,813,370 (GRCm39) missense possibly damaging 0.85
R9761:Dgkh UTSW 14 78,889,163 (GRCm39) missense probably damaging 1.00
X0022:Dgkh UTSW 14 78,832,901 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTCCAGTAGCTGAAACGCCAAAAG -3'
(R):5'- CTCTGCAAGCCTCCATCTGAAGAC -3'

Sequencing Primer
(F):5'- GAATCTGTGGGATGAGAATTTACC -3'
(R):5'- CAGATCAGTTTCTGGAGTGCAAC -3'
Posted On 2013-09-03