Incidental Mutation 'R6851:Dgke'
| ID |
534977 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgke
|
| Ensembl Gene |
ENSMUSG00000000276 |
| Gene Name |
diacylglycerol kinase, epsilon |
| Synonyms |
DAGK6 |
| MMRRC Submission |
044955-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R6851 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
88926005-88951644 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88943309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 227
(T227A)
|
| 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: T227A
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000000285
Gene: ENSMUSG00000000276
AA Change: T227A
| 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: T227A
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103526
Gene: ENSMUSG00000000276
AA Change: T227A
| 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
AA Change: T227A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000116277
Gene: ENSMUSG00000000276
AA Change: T227A
| 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 |
0.0626 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (41/41) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,623,345 (GRCm39) |
C856S |
probably benign |
Het |
| Arrdc2 |
T |
C |
8: 71,291,369 (GRCm39) |
E153G |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,764,739 (GRCm39) |
D2033G |
probably damaging |
Het |
| Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
| Cracr2a |
A |
T |
6: 127,585,679 (GRCm39) |
D159V |
probably damaging |
Het |
| Defa35 |
T |
C |
8: 21,555,146 (GRCm39) |
I22T |
possibly damaging |
Het |
| Efcab3 |
G |
A |
11: 104,896,521 (GRCm39) |
R4290K |
probably benign |
Het |
| Firrm |
G |
A |
1: 163,792,336 (GRCm39) |
R554C |
probably damaging |
Het |
| Galnt10 |
G |
A |
11: 57,656,458 (GRCm39) |
R214Q |
probably damaging |
Het |
| Gpr180 |
T |
C |
14: 118,391,037 (GRCm39) |
Y189H |
probably damaging |
Het |
| Hadh |
A |
G |
3: 131,065,620 (GRCm39) |
S13P |
possibly damaging |
Het |
| Hcn2 |
T |
A |
10: 79,564,947 (GRCm39) |
|
probably null |
Het |
| Irgm2 |
T |
C |
11: 58,110,641 (GRCm39) |
S123P |
possibly damaging |
Het |
| Kcnv1 |
T |
A |
15: 44,972,594 (GRCm39) |
I430F |
probably damaging |
Het |
| Kif13b |
G |
A |
14: 65,010,514 (GRCm39) |
C1271Y |
probably damaging |
Het |
| Klhdc3 |
A |
T |
17: 46,989,218 (GRCm39) |
I48N |
possibly damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Mprip |
T |
A |
11: 59,649,841 (GRCm39) |
W1182R |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,497,630 (GRCm39) |
|
probably null |
Het |
| Or12e1 |
T |
A |
2: 87,022,813 (GRCm39) |
S261T |
probably benign |
Het |
| Or1j11 |
T |
A |
2: 36,311,832 (GRCm39) |
C141S |
probably damaging |
Het |
| Or8b51 |
A |
G |
9: 38,569,481 (GRCm39) |
V69A |
probably benign |
Het |
| Or8h9 |
T |
C |
2: 86,789,611 (GRCm39) |
T64A |
possibly damaging |
Het |
| Or9m1b |
T |
A |
2: 87,836,300 (GRCm39) |
H265L |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,106,479 (GRCm39) |
Y295* |
probably null |
Het |
| Pex5 |
A |
G |
6: 124,380,113 (GRCm39) |
S275P |
possibly damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Sele |
G |
T |
1: 163,881,521 (GRCm39) |
G543C |
probably damaging |
Het |
| Serpina3k |
A |
C |
12: 104,311,625 (GRCm39) |
Y401S |
probably benign |
Het |
| Slc13a4 |
A |
G |
6: 35,278,668 (GRCm39) |
S74P |
probably damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,851,725 (GRCm39) |
L114P |
unknown |
Het |
| Syne1 |
G |
T |
10: 5,212,703 (GRCm39) |
C3295* |
probably null |
Het |
| Tepsin |
G |
T |
11: 119,987,787 (GRCm39) |
H44N |
probably damaging |
Het |
| Tpp1 |
A |
T |
7: 105,398,919 (GRCm39) |
V170E |
probably damaging |
Het |
| Trav3-1 |
T |
C |
14: 52,818,428 (GRCm39) |
V34A |
probably damaging |
Het |
| Tsbp1 |
A |
T |
17: 34,679,146 (GRCm39) |
Y303F |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,265,402 (GRCm39) |
V1642A |
probably benign |
Het |
| Vmn1r122 |
A |
G |
7: 20,867,845 (GRCm39) |
I70T |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,802,800 (GRCm39) |
M237V |
possibly damaging |
Het |
| Wdr75 |
A |
G |
1: 45,862,587 (GRCm39) |
E802G |
probably benign |
Het |
| Zan |
G |
A |
5: 137,394,453 (GRCm39) |
T4462I |
unknown |
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 |
|
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 |
|
|
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'- AACAGGATTGCCAGGTGATATC -3'
(R):5'- AGTACTGCATAGTTCTTAGTTCAGC -3'
Sequencing Primer
(F):5'- ACTTTCTACTTGAAGGGCACGAGTC -3'
(R):5'- GCAAATGGCAGCACCTCTGTTAC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation