Incidental Mutation 'R4499:Dgkq'
| ID |
331746 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkq
|
| Ensembl Gene |
ENSMUSG00000004815 |
| Gene Name |
diacylglycerol kinase, theta |
| Synonyms |
Dagk4, Dgk theta, 110kDa, DAGK7, Dgkd |
| MMRRC Submission |
041752-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4499 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
108794910-108808696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 108797527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 788
(E788D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053913]
[ENSMUST00000063272]
[ENSMUST00000078323]
[ENSMUST00000120327]
[ENSMUST00000132179]
[ENSMUST00000132708]
[ENSMUST00000153238]
|
| AlphaFold |
Q6P5E8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053913
AA Change: E788D
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000057859
Gene: ENSMUSG00000004815
AA Change: E788D
| 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 |
noncoding transcript
Transcript: ENSMUST00000144624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156964
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198346
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139169
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139598
|
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
92% (47/51) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,464,646 (GRCm39) |
W948R |
possibly damaging |
Het |
| Ache |
A |
C |
5: 137,290,194 (GRCm39) |
M508L |
probably damaging |
Het |
| Adgrb2 |
A |
T |
4: 129,886,454 (GRCm39) |
E198V |
probably damaging |
Het |
| Adgrl4 |
A |
G |
3: 151,216,422 (GRCm39) |
N535S |
possibly damaging |
Het |
| Agbl3 |
T |
C |
6: 34,834,533 (GRCm39) |
S906P |
probably benign |
Het |
| Akna |
T |
C |
4: 63,313,278 (GRCm39) |
T282A |
probably benign |
Het |
| Arfgef2 |
G |
A |
2: 166,727,734 (GRCm39) |
V1561M |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,484,091 (GRCm39) |
D1388G |
possibly damaging |
Het |
| Asnsd1 |
A |
G |
1: 53,387,129 (GRCm39) |
V166A |
probably benign |
Het |
| Bank1 |
T |
C |
3: 135,990,004 (GRCm39) |
I29V |
probably benign |
Het |
| Bpifb5 |
A |
T |
2: 154,082,678 (GRCm39) |
I484F |
possibly damaging |
Het |
| Camta2 |
T |
C |
11: 70,565,512 (GRCm39) |
E788G |
probably damaging |
Het |
| Ccdc18 |
T |
G |
5: 108,376,826 (GRCm39) |
S1422R |
possibly damaging |
Het |
| Cdc42bpg |
C |
T |
19: 6,370,585 (GRCm39) |
P1226L |
possibly damaging |
Het |
| Cep126 |
T |
C |
9: 8,101,589 (GRCm39) |
N315S |
possibly damaging |
Het |
| Dcaf4 |
T |
A |
12: 83,586,134 (GRCm39) |
L367Q |
probably damaging |
Het |
| Dcc |
A |
T |
18: 71,680,388 (GRCm39) |
V616D |
probably benign |
Het |
| Dennd4a |
G |
A |
9: 64,817,405 (GRCm39) |
D1680N |
possibly damaging |
Het |
| Dpep2 |
T |
C |
8: 106,712,114 (GRCm39) |
E282G |
probably benign |
Het |
| Gm8221 |
T |
A |
15: 77,510,245 (GRCm39) |
|
noncoding transcript |
Het |
| Ice1 |
T |
C |
13: 70,757,146 (GRCm39) |
S280G |
possibly damaging |
Het |
| Lrrc2 |
A |
T |
9: 110,791,713 (GRCm39) |
Q155L |
probably benign |
Het |
| Mesd |
G |
A |
7: 83,547,185 (GRCm39) |
R216Q |
probably benign |
Het |
| Msh6 |
T |
A |
17: 88,287,697 (GRCm39) |
N112K |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,781,778 (GRCm39) |
E307G |
probably benign |
Het |
| Nod1 |
T |
A |
6: 54,920,981 (GRCm39) |
N446Y |
probably damaging |
Het |
| Nrap |
G |
A |
19: 56,339,913 (GRCm39) |
T787I |
probably damaging |
Het |
| P2ry12 |
A |
G |
3: 59,125,078 (GRCm39) |
I199T |
probably damaging |
Het |
| Prr11 |
T |
G |
11: 86,989,533 (GRCm39) |
K279N |
possibly damaging |
Het |
| Psg25 |
C |
T |
7: 18,258,816 (GRCm39) |
E287K |
possibly damaging |
Het |
| Rusc1 |
T |
C |
3: 88,999,615 (GRCm39) |
S56G |
probably benign |
Het |
| Slc16a7 |
T |
C |
10: 125,064,056 (GRCm39) |
N427S |
probably damaging |
Het |
| Slc47a1 |
T |
A |
11: 61,250,355 (GRCm39) |
I341L |
probably benign |
Het |
| Slc9a8 |
T |
A |
2: 167,266,113 (GRCm39) |
L30Q |
probably benign |
Het |
| Ssh2 |
T |
A |
11: 77,283,893 (GRCm39) |
L49* |
probably null |
Het |
| Stard9 |
T |
A |
2: 120,530,722 (GRCm39) |
D2326E |
probably benign |
Het |
| Thbs1 |
T |
C |
2: 117,950,431 (GRCm39) |
I688T |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,746,822 (GRCm39) |
E4742D |
probably benign |
Het |
| Vps37b |
T |
C |
5: 124,145,689 (GRCm39) |
I117V |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,343,782 (GRCm39) |
M2008L |
probably benign |
Het |
| Zfp1005 |
T |
G |
2: 150,111,362 (GRCm39) |
V684G |
possibly damaging |
Het |
| Zfp53 |
A |
G |
17: 21,729,497 (GRCm39) |
E510G |
probably damaging |
Het |
| Zswim8 |
T |
A |
14: 20,764,365 (GRCm39) |
S578R |
probably benign |
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 |
|
R5061:Dgkq
|
UTSW |
5 |
108,801,989 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5474:Dgkq
|
UTSW |
5 |
108,797,009 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- CTTGAGTCGTTGTCAGAGCC -3'
(R):5'- GCCTGGCAAATTCACAAGCAG -3'
Sequencing Primer
(F):5'- GTTGTCAGAGCCCCACAAGTC -3'
(R):5'- TGGCAAATTCACAAGCAGGTAAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation