Incidental Mutation 'R0850:Dgkq'
| ID |
82508 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkq
|
| Ensembl Gene |
ENSMUSG00000004815 |
| Gene Name |
diacylglycerol kinase, theta |
| Synonyms |
Dagk4, Dgk theta, 110kDa, DAGK7, Dgkd |
| MMRRC Submission |
039029-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0850 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
108794910-108808696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108802444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 418
(V418A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053913]
[ENSMUST00000132179]
[ENSMUST00000132708]
[ENSMUST00000153238]
|
| AlphaFold |
Q6P5E8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053913
AA Change: V418A
PolyPhen 2
Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000057859
Gene: ENSMUSG00000004815
AA Change: V418A
| 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 |
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: ENSMUST00000139169
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139598
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156964
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153365
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Aadacl2fm2 |
T |
G |
3: 59,659,669 (GRCm39) |
I374R |
possibly damaging |
Het |
| Agbl3 |
T |
A |
6: 34,776,139 (GRCm39) |
F210Y |
probably damaging |
Het |
| Dmp1 |
A |
T |
5: 104,360,653 (GRCm39) |
D443V |
possibly damaging |
Het |
| Elapor2 |
T |
A |
5: 9,467,993 (GRCm39) |
N220K |
probably damaging |
Het |
| Elavl3 |
T |
G |
9: 21,948,059 (GRCm39) |
D35A |
probably damaging |
Het |
| Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
| Fbxw25 |
T |
C |
9: 109,478,685 (GRCm39) |
K425R |
probably benign |
Het |
| Gypa |
A |
G |
8: 81,222,974 (GRCm39) |
H26R |
unknown |
Het |
| H2-DMb1 |
T |
C |
17: 34,374,536 (GRCm39) |
V62A |
probably benign |
Het |
| Helb |
T |
C |
10: 119,941,272 (GRCm39) |
H472R |
probably damaging |
Het |
| Herc1 |
T |
G |
9: 66,373,952 (GRCm39) |
V3197G |
probably damaging |
Het |
| Herc2 |
C |
A |
7: 55,854,231 (GRCm39) |
N3712K |
probably benign |
Het |
| Herc6 |
T |
C |
6: 57,560,227 (GRCm39) |
V89A |
possibly damaging |
Het |
| Hspa1l |
A |
G |
17: 35,196,599 (GRCm39) |
T213A |
probably benign |
Het |
| Kcna7 |
T |
C |
7: 45,058,855 (GRCm39) |
S381P |
probably damaging |
Het |
| Kif19a |
C |
A |
11: 114,671,613 (GRCm39) |
P164Q |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,368,195 (GRCm39) |
S2189P |
probably benign |
Het |
| Mpo |
A |
G |
11: 87,688,328 (GRCm39) |
N329S |
probably damaging |
Het |
| Mrps15 |
A |
G |
4: 125,942,479 (GRCm39) |
Y76C |
probably damaging |
Het |
| Or51a42 |
T |
A |
7: 103,708,252 (GRCm39) |
M186L |
probably benign |
Het |
| Or6c75 |
T |
C |
10: 129,337,593 (GRCm39) |
V280A |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,858,773 (GRCm39) |
R1506G |
possibly damaging |
Het |
| Ptprb |
A |
T |
10: 116,138,030 (GRCm39) |
Q311H |
possibly damaging |
Het |
| Ptprb |
T |
C |
10: 116,175,415 (GRCm39) |
Y1137H |
probably damaging |
Het |
| Scaf8 |
A |
G |
17: 3,246,049 (GRCm39) |
|
probably null |
Het |
| Slc25a1 |
A |
T |
16: 17,745,145 (GRCm39) |
F105Y |
probably benign |
Het |
| Slc29a4 |
T |
C |
5: 142,704,327 (GRCm39) |
V327A |
probably benign |
Het |
| Spmip3 |
A |
G |
1: 177,568,571 (GRCm39) |
T23A |
probably benign |
Het |
| Tmed10 |
A |
G |
12: 85,390,279 (GRCm39) |
F195L |
probably benign |
Het |
| Tmem45a2 |
T |
A |
16: 56,865,732 (GRCm39) |
I151F |
probably benign |
Het |
| Vmn2r93 |
C |
A |
17: 18,525,279 (GRCm39) |
F312L |
possibly damaging |
Het |
| Zfp326 |
A |
G |
5: 106,026,663 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- AAAGGACCTGAGAAATGCAGTCCAC -3'
(R):5'- CTTTGCCTCGTACCCAAGAGATCC -3'
Sequencing Primer
(F):5'- GAGAAATGCAGTCCACTTACCTTG -3'
(R):5'- GAGATCCTGAAGATCTACCCTGG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation