Incidental Mutation 'IGL02942:Dgke'
ID364539
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dgke
Ensembl Gene ENSMUSG00000000276
Gene Namediacylglycerol kinase, epsilon
SynonymsDAGK6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.210) question?
Stock #IGL02942
Quality Score
Status
Chromosome11
Chromosomal Location89035179-89066850 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 89055369 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Histidine at position 202 (N202H)
Ref Sequence ENSEMBL: ENSMUSP00000116277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000285] [ENSMUST00000107894] [ENSMUST00000152772]
Predicted Effect probably benign
Transcript: ENSMUST00000000285
AA Change: N202H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000000285
Gene: ENSMUSG00000000276
AA Change: N202H

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 probably benign
Transcript: ENSMUST00000107894
AA Change: N202H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103526
Gene: ENSMUSG00000000276
AA Change: N202H

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 probably benign
Transcript: ENSMUST00000152772
AA Change: N202H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116277
Gene: ENSMUSG00000000276
AA Change: N202H

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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A C 15: 91,149,175 D679E probably damaging Het
Adh6a A T 3: 138,324,881 D88V probably damaging Het
Ank3 G A 10: 69,973,877 V1123I probably damaging Het
Apba1 T C 19: 23,944,971 V801A possibly damaging Het
Bcl2a1a C T 9: 88,957,042 probably benign Het
Brd8 A G 18: 34,610,627 V215A possibly damaging Het
Cdk17 G A 10: 93,238,968 V454I probably benign Het
Chd5 G A 4: 152,385,725 G1876D probably damaging Het
Clec4g T C 8: 3,718,356 E125G probably damaging Het
Col24a1 G A 3: 145,541,665 G1602D probably damaging Het
Depdc7 A C 2: 104,728,094 L194R probably damaging Het
Dkk2 T A 3: 132,178,037 C233S probably damaging Het
Dmpk A C 7: 19,092,241 D542A probably damaging Het
Epb41l4a G A 18: 33,874,201 R246W probably damaging Het
Frmpd1 A T 4: 45,285,493 Q1438L probably damaging Het
Gcgr A G 11: 120,536,817 probably null Het
Gm10295 T C 7: 71,350,502 K110R unknown Het
Ifrd1 A G 12: 40,217,376 probably null Het
Inpp5f A G 7: 128,694,900 T365A probably benign Het
Kcnn3 A G 3: 89,652,076 K551R probably benign Het
Lama2 A T 10: 27,041,220 N2236K probably damaging Het
Larp7 A T 3: 127,544,195 I405N possibly damaging Het
Meltf C A 16: 31,890,778 Y432* probably null Het
Mst1r C A 9: 107,913,153 T655K possibly damaging Het
Myh1 C T 11: 67,202,482 P133L probably damaging Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr1454 A T 19: 13,064,188 Q259L probably benign Het
Olfr2 A G 7: 107,001,354 S169P possibly damaging Het
Olfr584 A T 7: 103,086,198 M222L probably benign Het
Pfkl A T 10: 78,000,133 probably null Het
Plekhb2 T C 1: 34,876,992 M204T probably damaging Het
Ptp4a2 G A 4: 129,845,193 probably null Het
Rtp4 A G 16: 23,612,954 T79A probably benign Het
Senp3 T C 11: 69,677,989 D410G probably benign Het
Slc16a5 T C 11: 115,469,350 F120L possibly damaging Het
Snrpe T C 1: 133,608,931 E37G probably damaging Het
Sorcs1 T C 19: 50,475,437 T192A probably damaging Het
Spef2 T A 15: 9,668,874 H742L possibly damaging Het
Syt12 T C 19: 4,447,830 S375G probably benign Het
Tas2r117 T C 6: 132,803,694 L265P probably benign Het
Tcp10a T A 17: 7,329,919 D158E probably damaging Het
Tesk2 A T 4: 116,771,820 H122L probably damaging Het
Unc93b1 T A 19: 3,948,686 M535K probably damaging Het
Vangl1 C A 3: 102,184,031 R246S probably damaging Het
Xpo5 C T 17: 46,208,133 T166I probably damaging Het
Zcchc6 T G 13: 59,811,521 N378H probably damaging Het
Zmiz2 T C 11: 6,399,500 probably benign Het
Other mutations in Dgke
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Dgke APN 11 89041501 missense probably benign 0.02
IGL00548:Dgke APN 11 89055371 missense probably benign
IGL01366:Dgke APN 11 89055386 missense probably benign 0.25
IGL01682:Dgke APN 11 89052441 missense probably damaging 1.00
R0479:Dgke UTSW 11 89052470 missense probably benign 0.01
R0653:Dgke UTSW 11 89060169 missense probably benign 0.01
R0735:Dgke UTSW 11 89060075 missense probably benign 0.18
R1471:Dgke UTSW 11 89055494 missense possibly damaging 0.76
R2267:Dgke UTSW 11 89052469 missense probably benign 0.00
R4297:Dgke UTSW 11 89050730 missense probably damaging 1.00
R4963:Dgke UTSW 11 89050802 missense possibly damaging 0.78
R5222:Dgke UTSW 11 89050394 missense probably benign 0.00
R5240:Dgke UTSW 11 89050685 missense probably damaging 1.00
R5864:Dgke UTSW 11 89050462 nonsense probably null
R6267:Dgke UTSW 11 89040749 missense probably benign
R6296:Dgke UTSW 11 89040749 missense probably benign
R6851:Dgke UTSW 11 89052483 missense probably benign 0.15
R7204:Dgke UTSW 11 89041480 missense probably damaging 1.00
R7216:Dgke UTSW 11 89050337 missense probably benign 0.01
Posted On2015-12-18