Incidental Mutation 'R4297:Dgke'
| ID |
323397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgke
|
| Ensembl Gene |
ENSMUSG00000000276 |
| Gene Name |
diacylglycerol kinase, epsilon |
| Synonyms |
DAGK6 |
| MMRRC Submission |
041085-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.238)
|
| Stock # |
R4297 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
88926005-88951644 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88941556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 273
(V273D)
|
| 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: V273D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000285
Gene: ENSMUSG00000000276
AA Change: V273D
| 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: V273D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103526
Gene: ENSMUSG00000000276
AA Change: V273D
| 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: V273D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116277
Gene: ENSMUSG00000000276
AA Change: V273D
| 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 |
|
| Meta Mutation Damage Score |
0.9710 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
85% (33/39) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,258,154 (GRCm39) |
|
probably null |
Het |
| Alkbh3 |
C |
T |
2: 93,838,469 (GRCm39) |
R34H |
probably benign |
Het |
| Cacna1e |
T |
G |
1: 154,274,477 (GRCm39) |
S2143R |
probably benign |
Het |
| Camkk2 |
A |
G |
5: 122,883,769 (GRCm39) |
|
probably null |
Het |
| Cep295 |
A |
G |
9: 15,233,950 (GRCm39) |
V2282A |
probably benign |
Het |
| Cfap46 |
A |
C |
7: 139,232,589 (GRCm39) |
D827E |
probably benign |
Het |
| Col5a1 |
T |
C |
2: 27,907,216 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
T |
A |
1: 90,739,100 (GRCm39) |
E376V |
probably damaging |
Het |
| Creld2 |
T |
C |
15: 88,707,956 (GRCm39) |
C232R |
probably damaging |
Het |
| Ctdp1 |
A |
T |
18: 80,493,172 (GRCm39) |
V441E |
probably benign |
Het |
| Cyp2a4 |
A |
G |
7: 26,006,793 (GRCm39) |
T51A |
probably damaging |
Het |
| Epcam |
T |
C |
17: 87,947,962 (GRCm39) |
|
probably null |
Het |
| Fpr-rs3 |
A |
T |
17: 20,845,008 (GRCm39) |
N44K |
probably damaging |
Het |
| Glipr1l1 |
A |
T |
10: 111,898,252 (GRCm39) |
D119V |
probably benign |
Het |
| Gm6818 |
A |
T |
7: 38,101,877 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
| Gsto2 |
A |
C |
19: 47,864,935 (GRCm39) |
E156A |
possibly damaging |
Het |
| Hbb-bs |
T |
C |
7: 103,475,951 (GRCm39) |
D122G |
probably benign |
Het |
| Mc5r |
T |
C |
18: 68,472,378 (GRCm39) |
F246L |
probably benign |
Het |
| Ncapd3 |
A |
G |
9: 26,963,623 (GRCm39) |
N492S |
probably benign |
Het |
| Reln |
A |
C |
5: 22,125,485 (GRCm39) |
C2733G |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc6a21 |
G |
A |
7: 44,937,186 (GRCm39) |
V239M |
possibly damaging |
Het |
| St3gal2 |
T |
C |
8: 111,688,991 (GRCm39) |
M177T |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,556,607 (GRCm39) |
G30133C |
probably damaging |
Het |
| Ugt1a8 |
T |
C |
1: 88,015,826 (GRCm39) |
S80P |
probably benign |
Het |
| Vax1 |
G |
T |
19: 59,154,683 (GRCm39) |
S318* |
probably null |
Het |
| Vcam1 |
A |
T |
3: 115,910,892 (GRCm39) |
V502E |
probably benign |
Het |
| Vmn2r12 |
C |
A |
5: 109,239,830 (GRCm39) |
M244I |
probably benign |
Het |
| Vps18 |
T |
A |
2: 119,127,812 (GRCm39) |
C878* |
probably null |
Het |
| Wdr11 |
A |
G |
7: 129,226,910 (GRCm39) |
R791G |
probably benign |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGACACGCTGCAGACTTTG -3'
(R):5'- TGTCTCTGAGAACTGCAAAAGGG -3'
Sequencing Primer
(F):5'- TGTAAGGACTAATGTAACAAAGACAC -3'
(R):5'- GAAATAGGTAACAGCCTGTAAGGTG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation