Incidental Mutation 'R4965:Dgkh'
ID 383959
Institutional Source Beutler Lab
Gene Symbol Dgkh
Ensembl Gene ENSMUSG00000034731
Gene Name diacylglycerol kinase, eta
Synonyms 5930402B05Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4965 (G1)
Quality Score 217
Status Not validated
Chromosome 14
Chromosomal Location 78796789-78970169 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 78861861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 135 (V135M)
Ref Sequence ENSEMBL: ENSMUSP00000154031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074729] [ENSMUST00000226342] [ENSMUST00000227537] [ENSMUST00000227767] [ENSMUST00000228362]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000074729
AA Change: V268M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000074290
Gene: ENSMUSG00000034731
AA Change: V268M

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 damaging
Transcript: ENSMUST00000226342
AA Change: V268M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000227537
AA Change: V153M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000227767
AA Change: V135M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227820
Predicted Effect probably damaging
Transcript: ENSMUST00000228362
AA Change: V135M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.1%
Validation Efficiency
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: 117 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,775,433 (GRCm39) T1541A probably benign Het
9530002B09Rik T C 4: 122,594,285 (GRCm39) M59T probably benign Het
Adam18 C T 8: 25,131,827 (GRCm39) C428Y probably damaging Het
Adcy5 A G 16: 35,098,872 (GRCm39) E700G possibly damaging Het
Adprh G T 16: 38,266,142 (GRCm39) Y333* probably null Het
Agfg2 C A 5: 137,665,439 (GRCm39) probably null Het
Akip1 A T 7: 109,310,961 (GRCm39) E167V probably damaging Het
Akr1c21 A T 13: 4,630,304 (GRCm39) Q199L probably damaging Het
Aldh9a1 C A 1: 167,193,358 (GRCm39) A455E probably damaging Het
Amph G A 13: 19,321,869 (GRCm39) S520N probably benign Het
Ankrd52 A G 10: 128,226,376 (GRCm39) D1006G probably benign Het
Ap5z1 A C 5: 142,453,431 (GRCm39) Q133P probably damaging Het
Babam1 C T 8: 71,857,032 (GRCm39) A331V possibly damaging Het
Btc T C 5: 91,510,160 (GRCm39) probably null Het
Cacna2d3 A G 14: 28,704,289 (GRCm39) F831L probably benign Het
Cadm3 G A 1: 173,164,664 (GRCm39) P372L probably damaging Het
Capn5 A T 7: 97,775,624 (GRCm39) M439K probably damaging Het
Carf T C 1: 60,189,796 (GRCm39) S639P probably damaging Het
Casp12 C T 9: 5,352,250 (GRCm39) R81C probably benign Het
Ces2e G T 8: 105,660,330 (GRCm39) R555M probably benign Het
Cfap54 T A 10: 92,902,661 (GRCm39) I164F probably benign Het
Cltc C T 11: 86,598,327 (GRCm39) V1012I probably damaging Het
Cmya5 G A 13: 93,232,295 (GRCm39) T931I possibly damaging Het
Cntn6 A G 6: 104,751,435 (GRCm39) I364V probably damaging Het
Cntnap1 A T 11: 101,068,251 (GRCm39) I59F possibly damaging Het
Cop1 T C 1: 159,067,167 (GRCm39) M80T probably damaging Het
Cplx2 A G 13: 54,527,460 (GRCm39) S115G possibly damaging Het
Crtac1 A G 19: 42,307,179 (GRCm39) Y195H probably damaging Het
Csn1s2a A C 5: 87,929,697 (GRCm39) S99R possibly damaging Het
Csn1s2b T A 5: 87,961,820 (GRCm39) D41E possibly damaging Het
Cul9 C T 17: 46,849,451 (GRCm39) D565N probably damaging Het
Cux1 A T 5: 136,340,410 (GRCm39) N625K possibly damaging Het
Cyp2c37 A T 19: 40,000,206 (GRCm39) M443L possibly damaging Het
Cyp2s1 G A 7: 25,508,710 (GRCm39) T244I possibly damaging Het
Dtl T C 1: 191,278,677 (GRCm39) E395G possibly damaging Het
Dyrk1a G T 16: 94,492,854 (GRCm39) G658* probably null Het
Erlin2 T C 8: 27,519,623 (GRCm39) F117S probably damaging Het
Fkbp8 A G 8: 70,984,173 (GRCm39) probably null Het
Fras1 T C 5: 96,874,439 (GRCm39) F2288S possibly damaging Het
Frmd3 A G 4: 74,071,837 (GRCm39) T240A probably damaging Het
H2-D1 A G 17: 35,482,881 (GRCm39) Y137C probably damaging Het
Helz2 A G 2: 180,882,709 (GRCm39) V28A possibly damaging Het
Hydin A G 8: 111,124,727 (GRCm39) I579V probably benign Het
Il6 A T 5: 30,218,491 (GRCm39) Y29F possibly damaging Het
Ildr2 A G 1: 166,135,409 (GRCm39) D368G probably damaging Het
Junb T A 8: 85,704,788 (GRCm39) I91F probably damaging Het
Kat2a C A 11: 100,603,029 (GRCm39) probably benign Het
Kat2a A T 11: 100,603,030 (GRCm39) probably benign Het
Kcnh5 T A 12: 75,011,925 (GRCm39) T665S probably benign Het
Kdm1b A T 13: 47,227,843 (GRCm39) D608V probably damaging Het
Krcc1 A G 6: 71,261,621 (GRCm39) K218E probably damaging Het
Krt8 C T 15: 101,905,386 (GRCm39) V488M probably benign Het
Lzts1 C T 8: 69,591,414 (GRCm39) A245T probably benign Het
Mcm6 T A 1: 128,287,223 (GRCm39) Q27L probably damaging Het
Mfsd4b3-ps G T 10: 39,823,686 (GRCm39) Y191* probably null Het
Mgme1 C T 2: 144,118,324 (GRCm39) Q199* probably null Het
Mgme1 T C 2: 144,121,540 (GRCm39) L332P probably benign Het
Morc3 G T 16: 93,657,475 (GRCm39) E25* probably null Het
Mroh7 G A 4: 106,548,184 (GRCm39) A1098V possibly damaging Het
Mtrf1 G A 14: 79,644,027 (GRCm39) R174H probably benign Het
Mybpc3 G A 2: 90,949,592 (GRCm39) G45D possibly damaging Het
Mycbpap A T 11: 94,395,764 (GRCm39) N733K probably damaging Het
N4bp1 T C 8: 87,578,314 (GRCm39) I684V possibly damaging Het
Nav2 A T 7: 49,202,625 (GRCm39) R1470* probably null Het
Ndufa9 A T 6: 126,799,026 (GRCm39) S364T probably benign Het
Nipal4 C A 11: 46,052,837 (GRCm39) A43S possibly damaging Het
Nlrp1a T A 11: 70,983,141 (GRCm39) Y1275F possibly damaging Het
Nova1 A T 12: 46,767,618 (GRCm39) L8* probably null Het
Odam G T 5: 88,037,967 (GRCm39) G181* probably null Het
Optn T A 2: 5,026,190 (GRCm39) Q576L probably benign Het
Or2c1 T C 16: 3,657,434 (GRCm39) L199P probably damaging Het
Or4k47 T C 2: 111,451,879 (GRCm39) D180G probably damaging Het
Or4l1 C T 14: 50,166,354 (GRCm39) V216I probably benign Het
Or51a39 A T 7: 102,362,702 (GRCm39) I306N probably damaging Het
Or5as1 T A 2: 86,981,003 (GRCm39) M1L possibly damaging Het
Or5h18 A T 16: 58,847,696 (GRCm39) D191E probably damaging Het
Or8s2 T C 15: 98,277,030 (GRCm39) probably benign Het
Patl2 G T 2: 121,959,329 (GRCm39) S45* probably null Het
Pde2a G A 7: 101,152,140 (GRCm39) G349E probably benign Het
Pdlim2 T A 14: 70,405,464 (GRCm39) probably benign Het
Per1 T C 11: 68,995,227 (GRCm39) V653A probably benign Het
Phlda2 A G 7: 143,056,005 (GRCm39) S75P probably damaging Het
Poldip3 A T 15: 83,021,706 (GRCm39) M167K possibly damaging Het
Potegl C A 2: 23,135,127 (GRCm39) T312K probably benign Het
Prpf38a T C 4: 108,436,278 (GRCm39) I12V probably benign Het
Prrc1 G A 18: 57,507,622 (GRCm39) V259I possibly damaging Het
Ptges3l A T 11: 101,315,448 (GRCm39) M1K probably null Het
Rdh5 A G 10: 128,749,653 (GRCm39) Y296H probably damaging Het
Resf1 G T 6: 149,229,896 (GRCm39) G981* probably null Het
Rnf2 T A 1: 151,348,968 (GRCm39) K51* probably null Het
Rpusd3 C A 6: 113,393,809 (GRCm39) R215L probably benign Het
Rsph4a A T 10: 33,785,236 (GRCm39) E382D probably damaging Het
S1pr2 G A 9: 20,879,745 (GRCm39) Q28* probably null Het
Sesn1 A T 10: 41,771,005 (GRCm39) I179F probably damaging Het
Setd3 T A 12: 108,079,630 (GRCm39) E291V probably benign Het
Shc1 G T 3: 89,334,303 (GRCm39) R323L probably damaging Het
Slc22a5 T C 11: 53,782,352 (GRCm39) D5G possibly damaging Het
Slc6a19 T C 13: 73,848,677 (GRCm39) K26E probably benign Het
Slc9a3 A G 13: 74,312,412 (GRCm39) N670D possibly damaging Het
Spata19 A T 9: 27,311,761 (GRCm39) I127L probably benign Het
Speg G T 1: 75,404,347 (GRCm39) V2751L probably damaging Het
Sptbn2 A G 19: 4,779,337 (GRCm39) D298G probably benign Het
Srm T C 4: 148,678,640 (GRCm39) V289A possibly damaging Het
Stip1 C T 19: 7,012,938 (GRCm39) A49T probably benign Het
Tas2r118 C A 6: 23,969,627 (GRCm39) V145F probably benign Het
Tbc1d12 A T 19: 38,854,169 (GRCm39) K284* probably null Het
Tfcp2 T C 15: 100,423,531 (GRCm39) H125R probably damaging Het
Tfdp1 T C 8: 13,423,073 (GRCm39) V206A probably damaging Het
Tgtp2 A G 11: 48,950,237 (GRCm39) W112R probably damaging Het
Tmem71 T G 15: 66,410,710 (GRCm39) M221L probably benign Het
Tpcn1 T C 5: 120,685,552 (GRCm39) N436S possibly damaging Het
Usp4 C T 9: 108,239,819 (GRCm39) L183F probably damaging Het
Vmn2r55 A T 7: 12,404,478 (GRCm39) N308K possibly damaging Het
Zfp106 T A 2: 120,364,400 (GRCm39) D669V probably damaging Het
Zfp108 A T 7: 23,959,573 (GRCm39) I55L probably benign Het
Zfp512b A T 2: 181,228,131 (GRCm39) S8R probably damaging Het
Zfp827 T C 8: 79,787,910 (GRCm39) S359P 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
R0153:Dgkh UTSW 14 78,807,569 (GRCm39) nonsense probably null
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
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'- GTGTACCATTATGCCACAAAGGG -3'
(R):5'- CATAATGACTGGAGGTCTCTCAGG -3'

Sequencing Primer
(F):5'- GATGTGTGTGCAACCAGGATCC -3'
(R):5'- GTCTCTCAGGACACACAGGATTG -3'
Posted On 2016-04-27