Incidental Mutation 'R8461:Dgke'
ID 655289
Institutional Source Beutler Lab
Gene Symbol Dgke
Ensembl Gene ENSMUSG00000000276
Gene Name diacylglycerol kinase, epsilon
Synonyms DAGK6
MMRRC Submission 067837-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R8461 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 88926005-88951644 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88939819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 367 (M367V)
Ref Sequence ENSEMBL: ENSMUSP00000000285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000285] [ENSMUST00000107894] [ENSMUST00000152772]
AlphaFold Q9R1C6
Predicted Effect possibly damaging
Transcript: ENSMUST00000000285
AA Change: M367V

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000000285
Gene: ENSMUSG00000000276
AA Change: M367V

DomainStartEndE-ValueType
transmembrane domain 20 40 N/A INTRINSIC
C1 56 106 1.82e-4 SMART
C1 122 174 1.78e-7 SMART
DAGKc 216 347 3.69e-55 SMART
DAGKa 366 521 4.8e-95 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107894
AA Change: M367V

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103526
Gene: ENSMUSG00000000276
AA Change: M367V

DomainStartEndE-ValueType
transmembrane domain 20 40 N/A INTRINSIC
C1 56 106 1.82e-4 SMART
C1 122 174 1.78e-7 SMART
DAGKc 216 347 3.69e-55 SMART
DAGKa 366 521 4.8e-95 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000152772
AA Change: M367V

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116277
Gene: ENSMUSG00000000276
AA Change: M367V

DomainStartEndE-ValueType
transmembrane domain 20 40 N/A INTRINSIC
C1 56 106 1.82e-4 SMART
C1 122 174 1.78e-7 SMART
DAGKc 216 347 3.69e-55 SMART
Pfam:DAGK_acc 366 406 9.7e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Diacylglycerol kinases are thought to be involved mainly in the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. When expressed in mammalian cells, DGK-epsilon shows specificity for arachidonyl-containing diacylglycerol. DGK-epsilon is expressed predominantly in testis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null allele exhibit reductions in susceptibility to electroconvulsive shock and arachidonoyldiacylglycerol accumulation in cerebral cortex, and attenuated long-term potentiation in dentate granular cell synapses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G T 17: 48,400,849 (GRCm39) E45* probably null Het
4921539E11Rik T C 4: 103,112,712 (GRCm39) D132G probably benign Het
Abca16 T C 7: 120,035,918 (GRCm39) F334L possibly damaging Het
Ache T C 5: 137,288,582 (GRCm39) F96S probably damaging Het
Actg1 T C 11: 120,239,010 (GRCm39) T27A unknown Het
Ankrd27 T C 7: 35,326,911 (GRCm39) L752P probably damaging Het
Atp1a1 T A 3: 101,496,405 (GRCm39) T417S probably benign Het
Atp6v0a1 T G 11: 100,935,400 (GRCm39) L653R possibly damaging Het
Aurkb T C 11: 68,941,727 (GRCm39) V293A probably damaging Het
C2cd5 A T 6: 142,980,802 (GRCm39) D654E probably damaging Het
Cacna1s T C 1: 136,001,440 (GRCm39) V297A possibly damaging Het
Catsperg2 T C 7: 29,404,744 (GRCm39) D773G possibly damaging Het
Ccdc187 A G 2: 26,183,814 (GRCm39) L62P probably damaging Het
Cdh2 A G 18: 16,783,522 (GRCm39) V69A probably benign Het
D430041D05Rik A G 2: 103,998,280 (GRCm39) V1156A possibly damaging Het
Defb37 G A 8: 19,036,386 (GRCm39) H45Y unknown Het
Dnah1 T C 14: 31,027,915 (GRCm39) K640R probably benign Het
Gm5478 A T 15: 101,554,652 (GRCm39) L148Q probably damaging Het
Hhla1 A T 15: 65,795,723 (GRCm39) S494R probably benign Het
Kcne4 G A 1: 78,795,433 (GRCm39) S27N probably benign Het
Klhdc7b A T 15: 89,271,824 (GRCm39) H244L probably damaging Het
Lrrc40 T C 3: 157,764,371 (GRCm39) S429P possibly damaging Het
Map3k21 A T 8: 126,671,361 (GRCm39) D883V probably benign Het
Med4 T C 14: 73,755,468 (GRCm39) S259P unknown Het
Mrm3 T C 11: 76,135,158 (GRCm39) I123T probably damaging Het
Mrpl1 T A 5: 96,361,646 (GRCm39) V11D probably damaging Het
Myl1 G A 1: 66,983,994 (GRCm39) P24L unknown Het
Necap2 T C 4: 140,797,531 (GRCm39) K168R probably damaging Het
Nnt A G 13: 119,505,038 (GRCm39) S559P unknown Het
Nox4 T C 7: 86,966,479 (GRCm39) F197L probably damaging Het
Nup93 T C 8: 95,007,963 (GRCm39) probably null Het
Nxph2 T C 2: 23,211,529 (GRCm39) V10A unknown Het
Or1e16 T A 11: 73,285,982 (GRCm39) I289F probably damaging Het
Or8c11 T A 9: 38,289,777 (GRCm39) V194D probably damaging Het
Or8k38 G A 2: 86,487,890 (GRCm39) T304I probably benign Het
P2ry2 G T 7: 100,647,895 (GRCm39) R137S possibly damaging Het
Plxnb3 T C X: 72,803,103 (GRCm39) Y324H probably damaging Het
Pmpca G C 2: 26,285,046 (GRCm39) E424Q possibly damaging Het
Ppme1 T C 7: 100,021,012 (GRCm39) S7G probably benign Het
Rabep1 T A 11: 70,775,681 (GRCm39) M85K possibly damaging Het
Ranbp2 T C 10: 58,312,216 (GRCm39) Y979H probably damaging Het
Rapgef5 T C 12: 117,677,844 (GRCm39) S360P probably benign Het
Rbm33 T A 5: 28,592,970 (GRCm39) H623Q probably damaging Het
Rev1 G T 1: 38,122,868 (GRCm39) T450K possibly damaging Het
Sec23ip T A 7: 128,373,926 (GRCm39) L716Q probably benign Het
Sp2 T C 11: 96,846,739 (GRCm39) T535A possibly damaging Het
Syne1 A G 10: 5,011,463 (GRCm39) S61P probably benign Het
Tcf4 T C 18: 69,598,501 (GRCm39) V72A probably benign Het
Tmem131 G A 1: 36,833,902 (GRCm39) S1726F probably damaging Het
Trim13 T C 14: 61,842,921 (GRCm39) Y313H probably benign Het
Ttn A G 2: 76,611,437 (GRCm39) V17365A possibly damaging Het
Uap1l1 G A 2: 25,255,422 (GRCm39) A69V probably benign Het
Upp2 A G 2: 58,670,068 (GRCm39) D258G probably benign Het
Vmn1r44 A T 6: 89,870,701 (GRCm39) H149L possibly damaging Het
Zbtb49 T C 5: 38,358,453 (GRCm39) D600G probably benign Het
Zfp869 G T 8: 70,160,305 (GRCm39) H89Q probably benign Het
Other mutations in Dgke
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Dgke APN 11 88,932,327 (GRCm39) missense probably benign 0.02
IGL00548:Dgke APN 11 88,946,197 (GRCm39) missense probably benign
IGL01366:Dgke APN 11 88,946,212 (GRCm39) missense probably benign 0.25
IGL01682:Dgke APN 11 88,943,267 (GRCm39) missense probably damaging 1.00
IGL02942:Dgke APN 11 88,946,195 (GRCm39) missense probably benign
R0479:Dgke UTSW 11 88,943,296 (GRCm39) missense probably benign 0.01
R0653:Dgke UTSW 11 88,950,995 (GRCm39) missense probably benign 0.01
R0735:Dgke UTSW 11 88,950,901 (GRCm39) missense probably benign 0.18
R1471:Dgke UTSW 11 88,946,320 (GRCm39) missense possibly damaging 0.76
R2267:Dgke UTSW 11 88,943,295 (GRCm39) missense probably benign 0.00
R4297:Dgke UTSW 11 88,941,556 (GRCm39) missense probably damaging 1.00
R4963:Dgke UTSW 11 88,941,628 (GRCm39) missense possibly damaging 0.78
R5222:Dgke UTSW 11 88,941,220 (GRCm39) missense probably benign 0.00
R5240:Dgke UTSW 11 88,941,511 (GRCm39) missense probably damaging 1.00
R5864:Dgke UTSW 11 88,941,288 (GRCm39) nonsense probably null
R6267:Dgke UTSW 11 88,931,575 (GRCm39) missense probably benign
R6296:Dgke UTSW 11 88,931,575 (GRCm39) missense probably benign
R6851:Dgke UTSW 11 88,943,309 (GRCm39) missense probably benign 0.15
R7204:Dgke UTSW 11 88,932,306 (GRCm39) missense probably damaging 1.00
R7216:Dgke UTSW 11 88,941,163 (GRCm39) missense probably benign 0.01
R7895:Dgke UTSW 11 88,931,682 (GRCm39) missense probably damaging 1.00
R8203:Dgke UTSW 11 88,941,193 (GRCm39) missense probably benign 0.00
R9030:Dgke UTSW 11 88,941,237 (GRCm39) missense possibly damaging 0.91
R9566:Dgke UTSW 11 88,932,273 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CAGAGCATATAACTGTTTCTGTAAGCC -3'
(R):5'- AACAATGGGAGTCCTGTCCG -3'

Sequencing Primer
(F):5'- CCAGTGTGATCTGAATCTAAGAGTGC -3'
(R):5'- AGTCCTGTCCGTGGCTCTTAG -3'
Posted On 2020-10-20