Incidental Mutation 'IGL00503:Dgke'
| ID |
332496 |
| 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 # |
IGL00503
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
88926005-88951644 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88932327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 488
(I488V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103526
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000285]
[ENSMUST00000107894]
[ENSMUST00000152772]
|
| AlphaFold |
Q9R1C6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000285
AA Change: I488V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000000285
Gene: ENSMUSG00000000276
AA Change: I488V
| 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 benign
Transcript: ENSMUST00000107894
AA Change: I488V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000103526
Gene: ENSMUSG00000000276
AA Change: I488V
| 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 benign
Transcript: ENSMUST00000152772
|
| SMART Domains |
Protein: ENSMUSP00000116277
Gene: ENSMUSG00000000276
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
T |
A |
18: 69,083,173 (GRCm39) |
R14* |
probably null |
Het |
| Abcb5 |
A |
G |
12: 118,871,336 (GRCm39) |
S688P |
probably benign |
Het |
| Adgb |
T |
A |
10: 10,281,843 (GRCm39) |
Q597L |
possibly damaging |
Het |
| Aga |
G |
A |
8: 53,971,956 (GRCm39) |
V210I |
probably benign |
Het |
| Akap17b |
A |
G |
X: 35,875,963 (GRCm39) |
S515P |
probably damaging |
Het |
| Brinp3 |
A |
T |
1: 146,776,905 (GRCm39) |
T451S |
probably benign |
Het |
| Cabcoco1 |
G |
T |
10: 68,377,635 (GRCm39) |
T18N |
possibly damaging |
Het |
| Ccar2 |
C |
T |
14: 70,379,980 (GRCm39) |
W402* |
probably null |
Het |
| Ccdc15 |
G |
A |
9: 37,231,769 (GRCm39) |
A185V |
probably damaging |
Het |
| Ccdc50 |
G |
A |
16: 27,228,102 (GRCm39) |
E90K |
probably damaging |
Het |
| Cckbr |
G |
A |
7: 105,083,449 (GRCm39) |
M217I |
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,512,513 (GRCm39) |
T398A |
possibly damaging |
Het |
| Col4a1 |
A |
G |
8: 11,290,076 (GRCm39) |
|
probably benign |
Het |
| Cyp4v3 |
T |
A |
8: 45,760,058 (GRCm39) |
E498V |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,617,934 (GRCm39) |
D443G |
probably damaging |
Het |
| Edem3 |
T |
G |
1: 151,694,264 (GRCm39) |
S852A |
probably benign |
Het |
| Fbxo8 |
T |
A |
8: 57,041,058 (GRCm39) |
M158K |
probably benign |
Het |
| Galnt15 |
C |
T |
14: 31,774,313 (GRCm39) |
T359M |
possibly damaging |
Het |
| Herc6 |
A |
G |
6: 57,584,130 (GRCm39) |
N330D |
probably benign |
Het |
| Kdf1 |
T |
C |
4: 133,255,468 (GRCm39) |
S62P |
probably damaging |
Het |
| Larp4 |
T |
A |
15: 99,885,302 (GRCm39) |
I51N |
probably damaging |
Het |
| Mfsd6l |
T |
A |
11: 68,447,299 (GRCm39) |
I50N |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,928,679 (GRCm39) |
Y4C |
probably benign |
Het |
| Muc17 |
G |
T |
5: 137,165,971 (GRCm39) |
Y343* |
probably null |
Het |
| Myom2 |
A |
C |
8: 15,164,289 (GRCm39) |
|
probably null |
Het |
| Npat |
A |
T |
9: 53,483,949 (GRCm39) |
|
probably benign |
Het |
| Pamr1 |
A |
T |
2: 102,472,617 (GRCm39) |
I639F |
possibly damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,635,159 (GRCm39) |
S345G |
probably damaging |
Het |
| Pcyt1a |
A |
G |
16: 32,285,919 (GRCm39) |
T197A |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,784,401 (GRCm39) |
M316V |
probably benign |
Het |
| Plekhs1 |
T |
C |
19: 56,453,031 (GRCm39) |
|
probably null |
Het |
| Sema3e |
G |
T |
5: 14,290,586 (GRCm39) |
R557M |
probably damaging |
Het |
| Sgsm1 |
T |
C |
5: 113,424,008 (GRCm39) |
N154S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,784,706 (GRCm39) |
|
probably benign |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Spats1 |
A |
T |
17: 45,765,011 (GRCm39) |
|
probably null |
Het |
| Tnfaip6 |
T |
G |
2: 51,945,859 (GRCm39) |
V235G |
probably damaging |
Het |
| Trim34a |
A |
T |
7: 103,910,538 (GRCm39) |
T447S |
probably damaging |
Het |
| Tut1 |
G |
A |
19: 8,936,460 (GRCm39) |
A95T |
probably damaging |
Het |
| Urgcp |
C |
T |
11: 5,666,448 (GRCm39) |
R630Q |
possibly damaging |
Het |
| Vmn1r125 |
G |
T |
7: 21,006,106 (GRCm39) |
M1I |
probably null |
Het |
| Vmn2r99 |
A |
G |
17: 19,599,116 (GRCm39) |
T267A |
probably benign |
Het |
| Wdr5 |
A |
G |
2: 27,410,879 (GRCm39) |
K162E |
probably benign |
Het |
| Zscan26 |
T |
G |
13: 21,629,271 (GRCm39) |
K285Q |
probably damaging |
Het |
|
| Other mutations in Dgke |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2015-08-05 |
Incidental Mutation