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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |