Incidental Mutation 'R0153:Dgkh'
ID 22865
Institutional Source Beutler Lab
Gene Symbol Dgkh
Ensembl Gene ENSMUSG00000034731
Gene Name diacylglycerol kinase, eta
Synonyms 5930402B05Rik
MMRRC Submission 038436-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0153 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 14
Chromosomal Location 78796789-78970169 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to C at 78807569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 1149 (Y1149*)
Ref Sequence ENSEMBL: ENSMUSP00000154036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074729] [ENSMUST00000226342] [ENSMUST00000227537] [ENSMUST00000227767] [ENSMUST00000228362]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000074729
AA Change: Y1149*
SMART Domains Protein: ENSMUSP00000074290
Gene: ENSMUSG00000034731
AA Change: Y1149*

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 null
Transcript: ENSMUST00000226342
AA Change: Y1149*
Predicted Effect probably benign
Transcript: ENSMUST00000227537
Predicted Effect probably benign
Transcript: ENSMUST00000227767
Predicted Effect possibly damaging
Transcript: ENSMUST00000228362
AA Change: M1060R

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.1%
Validation Efficiency 97% (99/102)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,218,119 (GRCm39) M406V probably benign Het
Adar T C 3: 89,638,121 (GRCm39) S2P probably benign Het
Adgre1 T A 17: 57,750,939 (GRCm39) S538T possibly damaging Het
Alms1 T A 6: 85,618,363 (GRCm39) I2803N possibly damaging Het
Amn1 G T 6: 149,090,091 (GRCm39) probably benign Het
Arid1b G A 17: 5,393,207 (GRCm39) A2246T probably damaging Het
BC024139 T C 15: 76,005,947 (GRCm39) E418G probably damaging Het
Bok A G 1: 93,614,239 (GRCm39) D24G probably damaging Het
Cabp2 T C 19: 4,134,913 (GRCm39) probably benign Het
Ccdc141 C A 2: 76,995,582 (GRCm39) probably benign Het
Ccdc178 T C 18: 22,283,492 (GRCm39) T13A probably benign Het
Ccdc42 G T 11: 68,478,476 (GRCm39) V33F possibly damaging Het
Clcn7 G A 17: 25,368,176 (GRCm39) probably benign Het
Cluh A G 11: 74,548,176 (GRCm39) probably benign Het
Cr1l A T 1: 194,797,164 (GRCm39) probably benign Het
Cracdl A G 1: 37,663,720 (GRCm39) V726A probably benign Het
Csnk1g3 T A 18: 54,051,861 (GRCm39) probably benign Het
Depdc5 T C 5: 33,091,281 (GRCm39) probably benign Het
Dipk2a G T 9: 94,406,533 (GRCm39) D291E probably benign Het
Dnai1 A G 4: 41,635,162 (GRCm39) probably benign Het
Dync2i1 A G 12: 116,196,256 (GRCm39) V497A probably benign Het
Efcab2 A G 1: 178,302,451 (GRCm39) E65G possibly damaging Het
Eif4a3l1 A T 6: 136,305,842 (GRCm39) D101V probably damaging Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Fgfr4 A G 13: 55,309,198 (GRCm39) probably benign Het
Garin5b A T 7: 4,773,286 (GRCm39) L177Q probably damaging Het
Gm10720 A C 9: 3,015,787 (GRCm39) S44R probably null Het
Gm17535 T A 9: 3,035,786 (GRCm39) L218H probably benign Het
Gm6471 A T 7: 142,385,368 (GRCm39) noncoding transcript Het
Hnrnpm C T 17: 33,865,489 (GRCm39) R724Q probably damaging Het
Homer1 C T 13: 93,528,254 (GRCm39) T117I possibly damaging Het
Hoxd4 A T 2: 74,557,801 (GRCm39) Q60L probably damaging Het
Ift172 T C 5: 31,417,968 (GRCm39) R1274G probably benign Het
Ino80d A G 1: 63,097,477 (GRCm39) S806P probably damaging Het
Itga10 T C 3: 96,561,016 (GRCm39) V627A probably benign Het
Itgb2l A G 16: 96,238,569 (GRCm39) Y77H possibly damaging Het
Kel A T 6: 41,678,877 (GRCm39) H195Q probably benign Het
Klhdc7a A G 4: 139,694,582 (GRCm39) S122P possibly damaging Het
Krt71 T A 15: 101,643,141 (GRCm39) I456F possibly damaging Het
Lats1 T A 10: 7,567,339 (GRCm39) S37T probably damaging Het
Lrp1b T A 2: 41,013,031 (GRCm39) H1858L possibly damaging Het
Matk A T 10: 81,098,676 (GRCm39) T461S probably benign Het
Meikin A G 11: 54,300,468 (GRCm39) probably benign Het
Muc6 T C 7: 141,214,029 (GRCm39) Q2832R possibly damaging Het
Myo10 T C 15: 25,781,324 (GRCm39) F194L possibly damaging Het
Nbas G A 12: 13,323,877 (GRCm39) probably benign Het
Nme4 A G 17: 26,312,831 (GRCm39) probably null Het
Or13p8 A T 4: 118,583,530 (GRCm39) I29F possibly damaging Het
Or4c112 T A 2: 88,853,540 (GRCm39) N269I probably benign Het
Or5w13 A G 2: 87,523,948 (GRCm39) S93P probably benign Het
Or7g32 T A 9: 19,408,233 (GRCm39) L63H probably damaging Het
Or8g34 T C 9: 39,372,967 (GRCm39) V80A probably damaging Het
Pacsin2 T C 15: 83,261,862 (GRCm39) Q473R probably benign Het
Patz1 A G 11: 3,243,288 (GRCm39) H427R probably damaging Het
Pkp3 A G 7: 140,663,256 (GRCm39) Y367C probably damaging Het
Prdm2 G A 4: 142,860,338 (GRCm39) P984L possibly damaging Het
Rev3l T A 10: 39,750,124 (GRCm39) C3091* probably null Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rpl5 T C 5: 108,052,623 (GRCm39) F140L probably benign Het
Sec24a A C 11: 51,591,653 (GRCm39) I1014M probably benign Het
Serpinb11 A G 1: 107,299,933 (GRCm39) H93R probably benign Het
Shank2 C A 7: 143,623,872 (GRCm39) H286N probably benign Het
Sipa1l2 G T 8: 126,148,637 (GRCm39) Q1651K probably damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc30a5 A T 13: 100,963,002 (GRCm39) F75L possibly damaging Het
Slco1a1 G T 6: 141,856,427 (GRCm39) probably benign Het
Smg5 C T 3: 88,261,179 (GRCm39) probably benign Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Taf8 A T 17: 47,809,177 (GRCm39) probably benign Het
Tars3 A G 7: 65,333,829 (GRCm39) D617G probably damaging Het
Tbc1d5 A T 17: 51,291,715 (GRCm39) probably benign Het
Tfcp2 C G 15: 100,412,708 (GRCm39) E315Q probably damaging Het
Tmf1 A T 6: 97,147,345 (GRCm39) S540R probably damaging Het
Tmprss4 T C 9: 45,095,634 (GRCm39) Q70R probably benign Het
Trip13 G T 13: 74,068,183 (GRCm39) A266E possibly damaging Het
Ttc24 T A 3: 87,982,234 (GRCm39) probably benign Het
Ttll5 T A 12: 85,878,740 (GRCm39) I49N probably damaging Het
Tut7 G A 13: 59,930,150 (GRCm39) R962* probably null Het
Ube2ql1 A T 13: 69,886,711 (GRCm39) M250K possibly damaging Het
Vmn1r87 A T 7: 12,866,211 (GRCm39) D25E probably damaging Het
Vmn2r84 A G 10: 130,227,877 (GRCm39) Y120H probably benign Het
Wdr6 G A 9: 108,452,441 (GRCm39) R481C probably damaging Het
Zdhhc17 A T 10: 110,790,955 (GRCm39) Y371* probably null Het
Zfp292 T C 4: 34,811,185 (GRCm39) N620D probably benign Het
Zfp932 T A 5: 110,154,834 (GRCm39) Y11N probably benign 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
R0730:Dgkh UTSW 14 78,821,919 (GRCm39) missense probably damaging 0.99
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'- CCTCACTGGATGATGGGCAAACAAG -3'
(R):5'- TTGCATGGGGCCTGGTATCGTAAC -3'

Sequencing Primer
(F):5'- CATGTCAGGTTTGCACAATGAG -3'
(R):5'- GTCACTTCCAGAGCTGATCAATATG -3'
Posted On 2013-04-16