Incidental Mutation 'R8085:Dgkh'
ID 629618
Institutional Source Beutler Lab
Gene Symbol Dgkh
Ensembl Gene ENSMUSG00000034731
Gene Name diacylglycerol kinase, eta
Synonyms 5930402B05Rik
MMRRC Submission 067518-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8085 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 78796789-78970169 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 78824558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000074290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074729] [ENSMUST00000074729] [ENSMUST00000074729] [ENSMUST00000074729] [ENSMUST00000226342] [ENSMUST00000226342] [ENSMUST00000226342] [ENSMUST00000226342] [ENSMUST00000227537] [ENSMUST00000227767] [ENSMUST00000227767] [ENSMUST00000227767] [ENSMUST00000227767] [ENSMUST00000228362] [ENSMUST00000228362] [ENSMUST00000228362] [ENSMUST00000228362]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000074729
SMART Domains Protein: ENSMUSP00000074290
Gene: ENSMUSG00000034731

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: ENSMUST00000074729
SMART Domains Protein: ENSMUSP00000074290
Gene: ENSMUSG00000034731

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: ENSMUST00000074729
SMART Domains Protein: ENSMUSP00000074290
Gene: ENSMUSG00000034731

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: ENSMUST00000074729
SMART Domains Protein: ENSMUSP00000074290
Gene: ENSMUSG00000034731

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
Predicted Effect probably null
Transcript: ENSMUST00000226342
Predicted Effect probably null
Transcript: ENSMUST00000226342
Predicted Effect probably null
Transcript: ENSMUST00000226342
Predicted Effect probably benign
Transcript: ENSMUST00000227537
Predicted Effect probably null
Transcript: ENSMUST00000227767
Predicted Effect probably null
Transcript: ENSMUST00000227767
Predicted Effect probably null
Transcript: ENSMUST00000227767
Predicted Effect probably null
Transcript: ENSMUST00000227767
Predicted Effect probably null
Transcript: ENSMUST00000228362
Predicted Effect probably null
Transcript: ENSMUST00000228362
Predicted Effect probably null
Transcript: ENSMUST00000228362
Predicted Effect probably null
Transcript: ENSMUST00000228362
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.9%
  • 20x: 96.0%
Validation Efficiency 99% (81/82)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 G T 9: 30,854,611 (GRCm39) R160L probably benign Het
Atp11b T C 3: 35,895,185 (GRCm39) S908P probably benign Het
AW146154 C T 7: 41,130,621 (GRCm39) G165D possibly damaging Het
AW146154 C A 7: 41,130,622 (GRCm39) G165C probably damaging Het
Cachd1 G A 4: 100,845,361 (GRCm39) G951D probably damaging Het
Clstn3 T C 6: 124,435,683 (GRCm39) N250D probably benign Het
Coch G C 12: 51,650,031 (GRCm39) G340A possibly damaging Het
Col18a1 A G 10: 76,924,741 (GRCm39) V226A unknown Het
Crocc2 G A 1: 93,130,578 (GRCm39) R953Q possibly damaging Het
Disp2 C T 2: 118,617,452 (GRCm39) L149F possibly damaging Het
Dpt T C 1: 164,650,756 (GRCm39) F186S probably damaging Het
Eif3l T G 15: 78,961,066 (GRCm39) Y40D probably damaging Het
Epha3 A C 16: 63,403,873 (GRCm39) Y743D probably damaging Het
Ercc6l2 A T 13: 63,992,367 (GRCm39) Y272F probably benign Het
Exoc2 G A 13: 31,124,686 (GRCm39) L9F probably damaging Het
Fkbp9 A G 6: 56,833,289 (GRCm39) T259A probably benign Het
Gm5622 A T 14: 51,895,201 (GRCm39) K120M probably damaging Het
Hectd1 A T 12: 51,795,679 (GRCm39) F2250Y probably damaging Het
Herc2 A G 7: 55,879,427 (GRCm39) I4682V probably benign Het
Hnf1a T C 5: 115,108,732 (GRCm39) T58A probably benign Het
Kctd1 T A 18: 15,140,901 (GRCm39) I610F possibly damaging Het
Kif5a A T 10: 127,075,178 (GRCm39) D478E probably benign Het
Klf13 G T 7: 63,541,497 (GRCm39) A210E probably damaging Het
Klhl20 C A 1: 160,921,354 (GRCm39) G543C probably damaging Het
Krt78 T C 15: 101,855,715 (GRCm39) T699A possibly damaging Het
Lgr5 A T 10: 115,311,102 (GRCm39) D231E probably benign Het
Lonrf1 C A 8: 36,715,769 (GRCm39) G289W probably damaging Het
Lyst T C 13: 13,808,894 (GRCm39) L188P probably damaging Het
Mab21l2 T C 3: 86,455,393 (GRCm39) probably benign Het
Macf1 A G 4: 123,303,875 (GRCm39) V209A possibly damaging Het
Mctp1 A C 13: 76,972,972 (GRCm39) R658S probably benign Het
Mdfi T C 17: 48,127,042 (GRCm39) T178A probably damaging Het
Msln T A 17: 25,971,942 (GRCm39) K92* probably null Het
Msx3 T C 7: 139,627,998 (GRCm39) H113R unknown Het
Muc6 T A 7: 141,226,729 (GRCm39) T1433S unknown Het
Musk T A 4: 58,373,110 (GRCm39) S693R probably benign Het
Myh13 A G 11: 67,225,613 (GRCm39) K296R probably benign Het
Mylip A T 13: 45,563,928 (GRCm39) H427L possibly damaging Het
Nradd G T 9: 110,451,179 (GRCm39) T63K possibly damaging Het
Ntaq1 T G 15: 58,015,983 (GRCm39) probably null Het
Or5h17 A G 16: 58,820,432 (GRCm39) N128S probably benign Het
Or5p66 G T 7: 107,885,620 (GRCm39) Q238K probably benign Het
Osbp2 A G 11: 3,662,521 (GRCm39) L187P probably damaging Het
Oxct1 A G 15: 4,158,350 (GRCm39) D428G probably damaging Het
Oxsm G T 14: 16,242,439 (GRCm38) S110* probably null Het
Pard6a A G 8: 106,429,642 (GRCm39) Q230R probably damaging Het
Pkhd1 C A 1: 20,683,639 (GRCm39) W38L probably damaging Het
Plekhh2 A G 17: 84,905,384 (GRCm39) N1093D probably damaging Het
Rttn C T 18: 89,071,672 (GRCm39) Q1240* probably null Het
Serpina1d T C 12: 103,730,087 (GRCm39) E365G probably damaging Het
Sis A T 3: 72,814,462 (GRCm39) H1589Q probably damaging Het
Slc40a1 A T 1: 45,957,528 (GRCm39) I152N probably damaging Het
Slc44a5 C T 3: 153,928,414 (GRCm39) P59S probably damaging Het
Smarca4 T A 9: 21,570,108 (GRCm39) probably null Het
Smim33 A T 18: 35,861,573 (GRCm39) D19V probably benign Het
Spag9 A G 11: 93,989,870 (GRCm39) Y930C probably benign Het
Speg A G 1: 75,391,997 (GRCm39) E1593G probably damaging Het
St3gal5 G T 6: 72,074,925 (GRCm39) A62S unknown Het
Stx1a T C 5: 135,066,431 (GRCm39) probably null Het
Syne1 T A 10: 5,178,021 (GRCm39) I4818F possibly damaging Het
Tango6 A G 8: 107,447,366 (GRCm39) H588R probably benign Het
Tapt1 T C 5: 44,336,307 (GRCm39) Y454C probably damaging Het
Tep1 A G 14: 51,066,753 (GRCm39) Y2282H probably benign Het
Tle6 A T 10: 81,431,792 (GRCm39) W151R probably damaging Het
Tmem131l A T 3: 83,834,438 (GRCm39) M715K possibly damaging Het
Ubr1 T A 2: 120,764,898 (GRCm39) R519* probably null Het
Usp1 A T 4: 98,816,578 (GRCm39) N93I probably damaging Het
Vmn1r211 A T 13: 23,035,953 (GRCm39) M238K probably damaging Het
Vmn1r238 A G 18: 3,123,151 (GRCm39) Y88H probably damaging Het
Vmn2r62 A G 7: 42,437,270 (GRCm39) Y405H probably damaging Het
Vmn2r78 A G 7: 86,603,998 (GRCm39) I725M probably benign Het
Zfp12 C T 5: 143,230,681 (GRCm39) T368M probably 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
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
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'- TGCTTCAAACATGATACACAGTGC -3'
(R):5'- GCTGCATGAATTCTCAGGTTGATC -3'

Sequencing Primer
(F):5'- GAGAGATGGCTCATCAGTTTTAATAC -3'
(R):5'- CTCAGGTTGATCTGTGGTCTCAAG -3'
Posted On 2020-06-30