Incidental Mutation 'IGL01682:Dgke'
ID 103834
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dgke
Ensembl Gene ENSMUSG00000000276
Gene Name diacylglycerol kinase, epsilon
Synonyms DAGK6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # IGL01682
Quality Score
Status
Chromosome 11
Chromosomal Location 88926005-88951644 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88943267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 241 (L241I)
Ref Sequence ENSEMBL: ENSMUSP00000116277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000285] [ENSMUST00000107894] [ENSMUST00000152772]
AlphaFold Q9R1C6
Predicted Effect probably damaging
Transcript: ENSMUST00000000285
AA Change: L241I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000285
Gene: ENSMUSG00000000276
AA Change: L241I

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 damaging
Transcript: ENSMUST00000107894
AA Change: L241I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103526
Gene: ENSMUSG00000000276
AA Change: L241I

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 damaging
Transcript: ENSMUST00000152772
AA Change: L241I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116277
Gene: ENSMUSG00000000276
AA Change: L241I

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agmo T C 12: 37,407,626 (GRCm39) probably benign Het
Atp2c1 C T 9: 105,330,041 (GRCm39) G93D probably damaging Het
C2cd6 T G 1: 59,101,660 (GRCm39) Y333S probably damaging Het
Cacna1a A G 8: 85,263,067 (GRCm39) E414G possibly damaging Het
Capn10 C A 1: 92,868,106 (GRCm39) T191K probably benign Het
Cd226 A T 18: 89,287,187 (GRCm39) R328S probably damaging Het
Cdk10 A G 8: 123,954,397 (GRCm39) probably null Het
Cyp4a31 T A 4: 115,435,228 (GRCm39) V486D probably damaging Het
Dnah6 G T 6: 73,052,785 (GRCm39) A2965E probably damaging Het
Fbn2 A T 18: 58,205,743 (GRCm39) C1112S probably damaging Het
Gm10228 T A 16: 88,838,073 (GRCm39) Y77F unknown Het
Gng3 T C 19: 8,815,944 (GRCm39) I25V probably benign Het
Gramd2a A G 9: 59,619,393 (GRCm39) I61M possibly damaging Het
Hcar2 T C 5: 124,002,582 (GRCm39) N307S probably benign Het
Iars1 G A 13: 49,863,134 (GRCm39) E529K probably damaging Het
Ilvbl C T 10: 78,412,941 (GRCm39) probably benign Het
Itprid2 A G 2: 79,465,981 (GRCm39) Q33R probably damaging Het
Lrp1 T C 10: 127,410,847 (GRCm39) K1447R probably benign Het
Mmp20 A G 9: 7,671,376 (GRCm39) D426G probably benign Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Or4f4b G A 2: 111,314,188 (GRCm39) G138S probably damaging Het
Or51f2 C T 7: 102,526,440 (GRCm39) L38F probably benign Het
Pip4k2a A G 2: 19,002,779 (GRCm39) S10P probably benign Het
Pth1r A T 9: 110,552,774 (GRCm39) probably null Het
Rprd1b T C 2: 157,892,080 (GRCm39) I201T probably damaging Het
Rsbn1 A G 3: 103,869,696 (GRCm39) N719S probably benign Het
Sorcs1 C T 19: 50,169,944 (GRCm39) G939E probably benign Het
St8sia5 A G 18: 77,336,196 (GRCm39) K210E probably damaging Het
Trav3-1 G A 14: 52,818,649 (GRCm39) V108M probably benign Het
Washc4 T C 10: 83,416,170 (GRCm39) I820T possibly damaging 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
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
R8461:Dgke UTSW 11 88,939,819 (GRCm39) missense possibly damaging 0.89
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
Posted On 2014-01-21