Incidental Mutation 'R5474:Dgkq'
| ID |
501098 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkq
|
| Ensembl Gene |
ENSMUSG00000004815 |
| Gene Name |
diacylglycerol kinase, theta |
| Synonyms |
Dagk4, Dgk theta, 110kDa, DAGK7, Dgkd |
| MMRRC Submission |
043035-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5474 (G1)
|
| Quality Score |
214 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
108794910-108808696 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 108797009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053913]
[ENSMUST00000053913]
[ENSMUST00000053913]
[ENSMUST00000063272]
[ENSMUST00000078323]
[ENSMUST00000120327]
[ENSMUST00000132179]
[ENSMUST00000132708]
[ENSMUST00000153238]
|
| AlphaFold |
Q6P5E8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053913
|
| SMART Domains |
Protein: ENSMUSP00000057859
Gene: ENSMUSG00000004815
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
55 |
102 |
3.22e-14 |
SMART |
|
C1
|
114 |
162 |
1.73e-2 |
SMART |
|
C1
|
178 |
228 |
1.58e-13 |
SMART |
|
low complexity region
|
267 |
275 |
N/A |
INTRINSIC |
|
RA
|
387 |
486 |
2.08e-20 |
SMART |
|
DAGKc
|
580 |
707 |
4.79e-63 |
SMART |
|
DAGKa
|
733 |
885 |
7e-88 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000053913
|
| SMART Domains |
Protein: ENSMUSP00000057859
Gene: ENSMUSG00000004815
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
55 |
102 |
3.22e-14 |
SMART |
|
C1
|
114 |
162 |
1.73e-2 |
SMART |
|
C1
|
178 |
228 |
1.58e-13 |
SMART |
|
low complexity region
|
267 |
275 |
N/A |
INTRINSIC |
|
RA
|
387 |
486 |
2.08e-20 |
SMART |
|
DAGKc
|
580 |
707 |
4.79e-63 |
SMART |
|
DAGKa
|
733 |
885 |
7e-88 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000053913
|
| SMART Domains |
Protein: ENSMUSP00000057859
Gene: ENSMUSG00000004815
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
55 |
102 |
3.22e-14 |
SMART |
|
C1
|
114 |
162 |
1.73e-2 |
SMART |
|
C1
|
178 |
228 |
1.58e-13 |
SMART |
|
low complexity region
|
267 |
275 |
N/A |
INTRINSIC |
|
RA
|
387 |
486 |
2.08e-20 |
SMART |
|
DAGKc
|
580 |
707 |
4.79e-63 |
SMART |
|
DAGKa
|
733 |
885 |
7e-88 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063272
|
| SMART Domains |
Protein: ENSMUSP00000068607
Gene: ENSMUSG00000013495
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1211
|
31 |
121 |
7.3e-28 |
PFAM |
|
transmembrane domain
|
135 |
157 |
N/A |
INTRINSIC |
|
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
|
Pfam:DUF1211
|
256 |
353 |
4.4e-36 |
PFAM |
|
transmembrane domain
|
373 |
395 |
N/A |
INTRINSIC |
|
transmembrane domain
|
415 |
437 |
N/A |
INTRINSIC |
|
transmembrane domain
|
450 |
472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078323
|
| SMART Domains |
Protein: ENSMUSP00000077437
Gene: ENSMUSG00000013495
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1211
|
31 |
121 |
7.3e-28 |
PFAM |
|
transmembrane domain
|
135 |
157 |
N/A |
INTRINSIC |
|
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
|
Pfam:DUF1211
|
256 |
353 |
4.4e-36 |
PFAM |
|
transmembrane domain
|
373 |
395 |
N/A |
INTRINSIC |
|
transmembrane domain
|
415 |
437 |
N/A |
INTRINSIC |
|
transmembrane domain
|
450 |
472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120327
|
| SMART Domains |
Protein: ENSMUSP00000112780
Gene: ENSMUSG00000013495
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1211
|
32 |
121 |
1.5e-22 |
PFAM |
|
transmembrane domain
|
135 |
157 |
N/A |
INTRINSIC |
|
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
|
Pfam:DUF1211
|
257 |
353 |
9.5e-27 |
PFAM |
|
transmembrane domain
|
373 |
395 |
N/A |
INTRINSIC |
|
transmembrane domain
|
415 |
437 |
N/A |
INTRINSIC |
|
transmembrane domain
|
450 |
472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123669
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132179
|
| SMART Domains |
Protein: ENSMUSP00000118466
Gene: ENSMUSG00000004815
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
55 |
102 |
3.22e-14 |
SMART |
|
Blast:C1
|
114 |
144 |
1e-12 |
BLAST |
|
low complexity region
|
156 |
169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132708
|
| SMART Domains |
Protein: ENSMUSP00000122837
Gene: ENSMUSG00000004815
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:C1
|
26 |
56 |
2e-13 |
BLAST |
|
low complexity region
|
68 |
81 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145917
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153238
|
| SMART Domains |
Protein: ENSMUSP00000118065
Gene: ENSMUSG00000004815
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
55 |
102 |
3.22e-14 |
SMART |
|
Blast:C1
|
114 |
144 |
1e-12 |
BLAST |
|
low complexity region
|
156 |
169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156964
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198346
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139169
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153365
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.0%
- 20x: 90.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains three cysteine-rich domains, a proline-rich region, and a pleckstrin homology domain with an overlapping Ras-associating domain. It is localized in the speckle domains of the nucleus, and mediates the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
C |
T |
12: 118,904,425 (GRCm39) |
G122S |
probably null |
Het |
| Ankmy1 |
T |
C |
1: 92,812,926 (GRCm39) |
D461G |
possibly damaging |
Het |
| Ascc3 |
T |
C |
10: 50,725,634 (GRCm39) |
I2119T |
probably benign |
Het |
| Bud13 |
G |
C |
9: 46,199,251 (GRCm39) |
R204T |
probably damaging |
Het |
| Clec4a4 |
T |
C |
6: 122,989,706 (GRCm39) |
S116P |
probably damaging |
Het |
| Cnga1 |
T |
C |
5: 72,762,536 (GRCm39) |
Y326C |
probably damaging |
Het |
| Cngb1 |
A |
T |
8: 95,978,597 (GRCm39) |
I588N |
probably damaging |
Het |
| Cspg5 |
A |
T |
9: 110,080,076 (GRCm39) |
I334F |
probably damaging |
Het |
| Cyp2c29 |
G |
A |
19: 39,313,436 (GRCm39) |
A350T |
probably damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock4 |
T |
C |
12: 40,795,730 (GRCm39) |
I849T |
probably benign |
Het |
| Drd4 |
T |
C |
7: 140,873,641 (GRCm39) |
W98R |
probably damaging |
Het |
| Duox1 |
A |
T |
2: 122,177,106 (GRCm39) |
Q1511L |
probably benign |
Het |
| Gtdc1 |
A |
T |
2: 44,646,379 (GRCm39) |
L83Q |
probably damaging |
Het |
| H2-T3 |
G |
A |
17: 36,500,999 (GRCm39) |
P6S |
probably damaging |
Het |
| H6pd |
A |
G |
4: 150,080,546 (GRCm39) |
C92R |
probably damaging |
Het |
| Ide |
A |
G |
19: 37,249,583 (GRCm39) |
V923A |
unknown |
Het |
| Kcnc4 |
A |
T |
3: 107,355,207 (GRCm39) |
S414T |
possibly damaging |
Het |
| Krt14 |
A |
T |
11: 100,095,571 (GRCm39) |
M278K |
probably damaging |
Het |
| Lrit1 |
T |
A |
14: 36,783,943 (GRCm39) |
S424T |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,581,635 (GRCm39) |
S2500N |
unknown |
Het |
| Ncs1 |
A |
T |
2: 31,170,796 (GRCm39) |
N70Y |
probably damaging |
Het |
| Nemf |
C |
A |
12: 69,363,109 (GRCm39) |
R923L |
probably benign |
Het |
| Nrros |
T |
C |
16: 31,963,170 (GRCm39) |
I246M |
probably benign |
Het |
| Or5w13 |
G |
A |
2: 87,523,401 (GRCm39) |
S275F |
probably damaging |
Het |
| Or6a2 |
T |
A |
7: 106,600,296 (GRCm39) |
Y257F |
probably damaging |
Het |
| Or8g51 |
T |
A |
9: 38,609,609 (GRCm39) |
T18S |
possibly damaging |
Het |
| Polb |
A |
G |
8: 23,120,386 (GRCm39) |
Y296H |
probably benign |
Het |
| Prrc2a |
A |
T |
17: 35,378,189 (GRCm39) |
F440L |
unknown |
Het |
| Prrc2c |
T |
C |
1: 162,537,213 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
C |
T |
10: 28,372,926 (GRCm39) |
R726* |
probably null |
Het |
| Rnpc3 |
A |
T |
3: 113,409,158 (GRCm39) |
L247* |
probably null |
Het |
| Scfd2 |
C |
T |
5: 74,692,025 (GRCm39) |
V86I |
probably benign |
Het |
| Sec14l5 |
A |
G |
16: 4,996,382 (GRCm39) |
T443A |
possibly damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,195,221 (GRCm39) |
V138A |
probably damaging |
Het |
| Usp15 |
T |
C |
10: 122,963,950 (GRCm39) |
D524G |
probably damaging |
Het |
| Vav3 |
A |
G |
3: 109,571,737 (GRCm39) |
T220A |
probably benign |
Het |
| Vmn2r17 |
G |
A |
5: 109,582,150 (GRCm39) |
S513N |
probably damaging |
Het |
| Zfp84 |
C |
T |
7: 29,476,514 (GRCm39) |
S402L |
probably damaging |
Het |
| Zfta |
A |
T |
19: 7,397,524 (GRCm39) |
R24W |
probably damaging |
Het |
|
| Other mutations in Dgkq |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00491:Dgkq
|
APN |
5 |
108,802,448 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02364:Dgkq
|
APN |
5 |
108,804,310 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02966:Dgkq
|
APN |
5 |
108,804,287 (GRCm39) |
splice site |
probably null |
|
|
IGL03297:Dgkq
|
APN |
5 |
108,798,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0179:Dgkq
|
UTSW |
5 |
108,806,066 (GRCm39) |
splice site |
probably benign |
|
|
R0194:Dgkq
|
UTSW |
5 |
108,802,510 (GRCm39) |
intron |
probably benign |
|
|
R0332:Dgkq
|
UTSW |
5 |
108,802,965 (GRCm39) |
splice site |
probably benign |
|
|
R0513:Dgkq
|
UTSW |
5 |
108,804,361 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0525:Dgkq
|
UTSW |
5 |
108,802,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0673:Dgkq
|
UTSW |
5 |
108,803,455 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0801:Dgkq
|
UTSW |
5 |
108,808,586 (GRCm39) |
splice site |
probably null |
|
|
R0850:Dgkq
|
UTSW |
5 |
108,802,444 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0944:Dgkq
|
UTSW |
5 |
108,804,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1069:Dgkq
|
UTSW |
5 |
108,803,903 (GRCm39) |
splice site |
probably benign |
|
|
R1411:Dgkq
|
UTSW |
5 |
108,798,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1488:Dgkq
|
UTSW |
5 |
108,798,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Dgkq
|
UTSW |
5 |
108,801,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1874:Dgkq
|
UTSW |
5 |
108,808,461 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2210:Dgkq
|
UTSW |
5 |
108,808,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4499:Dgkq
|
UTSW |
5 |
108,797,527 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5061:Dgkq
|
UTSW |
5 |
108,801,989 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5481:Dgkq
|
UTSW |
5 |
108,796,676 (GRCm39) |
splice site |
probably null |
|
|
R5951:Dgkq
|
UTSW |
5 |
108,802,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6193:Dgkq
|
UTSW |
5 |
108,803,366 (GRCm39) |
nonsense |
probably null |
|
|
R6429:Dgkq
|
UTSW |
5 |
108,801,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6458:Dgkq
|
UTSW |
5 |
108,802,242 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7388:Dgkq
|
UTSW |
5 |
108,806,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7398:Dgkq
|
UTSW |
5 |
108,803,056 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8098:Dgkq
|
UTSW |
5 |
108,800,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8244:Dgkq
|
UTSW |
5 |
108,796,578 (GRCm39) |
makesense |
probably null |
|
|
R8956:Dgkq
|
UTSW |
5 |
108,798,095 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9043:Dgkq
|
UTSW |
5 |
108,801,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9360:Dgkq
|
UTSW |
5 |
108,798,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTTCCACTCCACAAAAGAG -3'
(R):5'- TTTTGTCTTACCCAGGGCCAG -3'
Sequencing Primer
(F):5'- ACCTAGAAAAGCTGTCTAGTAGC -3'
(R):5'- TTACCCAGGGCCAGGTACAAG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation