Incidental Mutation 'R8244:Dgkq'
| ID |
640860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkq
|
| Ensembl Gene |
ENSMUSG00000004815 |
| Gene Name |
diacylglycerol kinase, theta |
| Synonyms |
Dagk4, Dgk theta, 110kDa, DAGK7, Dgkd |
| MMRRC Submission |
067672-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8244 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
108794910-108808696 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 108796578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Glutamine
at position 935
(*935Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053913]
[ENSMUST00000063272]
[ENSMUST00000078323]
[ENSMUST00000120327]
[ENSMUST00000132179]
[ENSMUST00000132708]
[ENSMUST00000146207]
[ENSMUST00000153238]
|
| AlphaFold |
Q6P5E8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053913
AA Change: *935Q
|
| SMART Domains |
Protein: ENSMUSP00000057859
Gene: ENSMUSG00000004815
AA Change: *935Q
| 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 |
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 |
probably benign
Transcript: ENSMUST00000146207
|
| SMART Domains |
Protein: ENSMUSP00000143596
Gene: ENSMUSG00000013495
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1211
|
32 |
121 |
5.4e-23 |
PFAM |
|
transmembrane domain
|
137 |
159 |
N/A |
INTRINSIC |
|
transmembrane domain
|
185 |
207 |
N/A |
INTRINSIC |
|
| 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 |
0.8614 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (44/45) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
T |
C |
7: 27,271,004 (GRCm39) |
I133T |
probably damaging |
Het |
| Ahnak |
C |
T |
19: 8,993,037 (GRCm39) |
P4774S |
probably benign |
Het |
| Alg5 |
A |
G |
3: 54,646,221 (GRCm39) |
I29V |
probably benign |
Het |
| Ankar |
A |
G |
1: 72,690,183 (GRCm39) |
I1216T |
probably benign |
Het |
| Ap5z1 |
A |
T |
5: 142,459,735 (GRCm39) |
T462S |
possibly damaging |
Het |
| Apc2 |
A |
T |
10: 80,151,166 (GRCm39) |
R2073S |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,060,548 (GRCm39) |
E3010V |
probably damaging |
Het |
| Arid3c |
T |
G |
4: 41,729,997 (GRCm39) |
E66A |
possibly damaging |
Het |
| Atf7 |
A |
G |
15: 102,437,301 (GRCm39) |
S54P |
unknown |
Het |
| Cbx3 |
C |
T |
6: 51,452,350 (GRCm39) |
T55I |
probably benign |
Het |
| Clptm1 |
A |
T |
7: 19,372,916 (GRCm39) |
F205I |
possibly damaging |
Het |
| Cramp1 |
T |
A |
17: 25,190,384 (GRCm39) |
I1117F |
probably damaging |
Het |
| Dock2 |
A |
T |
11: 34,586,280 (GRCm39) |
F511I |
probably damaging |
Het |
| Efr3a |
G |
A |
15: 65,687,217 (GRCm39) |
R15H |
probably damaging |
Het |
| Ehmt2 |
A |
G |
17: 35,124,238 (GRCm39) |
D385G |
probably damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Gfpt1 |
T |
A |
6: 87,040,613 (GRCm39) |
|
probably benign |
Het |
| Gm21680 |
T |
C |
5: 26,173,983 (GRCm39) |
E207G |
probably damaging |
Het |
| Igsf23 |
A |
T |
7: 19,675,798 (GRCm39) |
C141S |
possibly damaging |
Het |
| Ktn1 |
A |
T |
14: 47,912,280 (GRCm39) |
E349V |
probably null |
Het |
| Lrp1b |
T |
C |
2: 41,396,794 (GRCm39) |
D424G |
|
Het |
| Lrrc9 |
A |
G |
12: 72,546,384 (GRCm39) |
I1190V |
probably benign |
Het |
| Lztfl1 |
T |
A |
9: 123,541,514 (GRCm39) |
I102F |
probably damaging |
Het |
| Mapk11 |
G |
T |
15: 89,030,007 (GRCm39) |
T203K |
possibly damaging |
Het |
| Mgam |
T |
A |
6: 40,727,520 (GRCm39) |
I1315N |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,331,750 (GRCm39) |
M695T |
probably benign |
Het |
| Pdcd4 |
A |
G |
19: 53,895,965 (GRCm39) |
T8A |
probably benign |
Het |
| Pramel27 |
T |
C |
4: 143,579,854 (GRCm39) |
Y480H |
probably damaging |
Het |
| Ptx4 |
A |
G |
17: 25,341,839 (GRCm39) |
K105E |
possibly damaging |
Het |
| Pxn |
C |
T |
5: 115,690,302 (GRCm39) |
P381L |
probably damaging |
Het |
| Rtn4rl1 |
T |
C |
11: 75,156,276 (GRCm39) |
L236P |
probably damaging |
Het |
| Sall3 |
G |
A |
18: 81,016,969 (GRCm39) |
P320S |
probably benign |
Het |
| Sh2b2 |
G |
T |
5: 136,256,291 (GRCm39) |
S247* |
probably null |
Het |
| Sim2 |
T |
A |
16: 93,910,222 (GRCm39) |
V208E |
probably damaging |
Het |
| Slc44a4 |
T |
C |
17: 35,140,548 (GRCm39) |
L247P |
probably damaging |
Het |
| Sox1 |
GGGCGGCGGCGGCGGCGG |
GGGCGGCGGCGGCGG |
8: 12,446,468 (GRCm39) |
|
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,330,406 (GRCm39) |
D1937G |
probably damaging |
Het |
| Tmem131 |
T |
C |
1: 36,847,974 (GRCm39) |
N1158S |
probably benign |
Het |
| Tns1 |
G |
T |
1: 73,976,410 (GRCm39) |
A1146E |
probably damaging |
Het |
| Tom1l1 |
T |
C |
11: 90,548,647 (GRCm39) |
E308G |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,659,051 (GRCm39) |
K12262* |
probably null |
Het |
| Vps13b |
G |
T |
15: 35,917,349 (GRCm39) |
G3731V |
probably damaging |
Het |
| Wdr20 |
G |
A |
12: 110,760,076 (GRCm39) |
E321K |
probably benign |
Het |
| Zfp516 |
G |
T |
18: 82,974,458 (GRCm39) |
G219C |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,697,933 (GRCm39) |
C259S |
possibly damaging |
Het |
| Zscan20 |
T |
C |
4: 128,479,759 (GRCm39) |
T911A |
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 |
|
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 |
|
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'- ATGTATGGCAGCGTGAGTAATGAC -3'
(R):5'- CCTCTTTTGTGGAGTGGAACC -3'
Sequencing Primer
(F):5'- GTAATGACCATTACCTACCCACTC -3'
(R):5'- CCAATTAGTATTAACTGACCCAGAGG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation