Incidental Mutation 'R1411:Dgkq'
| ID |
200799 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkq
|
| Ensembl Gene |
ENSMUSG00000004815 |
| Gene Name |
diacylglycerol kinase, theta |
| Synonyms |
Dagk4, Dgk theta, 110kDa, DAGK7, Dgkd |
| MMRRC Submission |
039467-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1411 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
108794910-108808696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 108798228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 677
(V677F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053913]
[ENSMUST00000063272]
[ENSMUST00000078323]
[ENSMUST00000120327]
[ENSMUST00000132179]
[ENSMUST00000132708]
[ENSMUST00000153238]
|
| AlphaFold |
Q6P5E8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053913
AA Change: V677F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057859
Gene: ENSMUSG00000004815
AA Change: V677F
| 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: ENSMUST00000156964
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139598
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139169
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144624
|
| 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 |
|
| Meta Mutation Damage Score |
0.8184 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
| Validation Efficiency |
100% (46/46) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
T |
A |
8: 71,914,374 (GRCm39) |
I85F |
probably damaging |
Het |
| Acp4 |
A |
G |
7: 43,906,267 (GRCm39) |
|
probably benign |
Het |
| Baz1b |
T |
C |
5: 135,259,177 (GRCm39) |
F1080L |
possibly damaging |
Het |
| Cbx5 |
A |
T |
15: 103,121,547 (GRCm39) |
M30K |
probably benign |
Het |
| Cdc73 |
A |
G |
1: 143,485,252 (GRCm39) |
|
probably benign |
Het |
| Cdcp1 |
A |
T |
9: 123,019,177 (GRCm39) |
L34Q |
probably damaging |
Het |
| Chd8 |
C |
T |
14: 52,462,103 (GRCm39) |
V738I |
probably benign |
Het |
| Cpeb2 |
T |
G |
5: 43,391,113 (GRCm39) |
|
probably benign |
Het |
| Cyp2c67 |
T |
A |
19: 39,627,035 (GRCm39) |
D265V |
probably damaging |
Het |
| Cyp2j11 |
A |
G |
4: 96,233,453 (GRCm39) |
I81T |
probably benign |
Het |
| Dbx2 |
T |
C |
15: 95,530,262 (GRCm39) |
E235G |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,217,441 (GRCm39) |
N928S |
probably damaging |
Het |
| Flt1 |
C |
T |
5: 147,517,126 (GRCm39) |
V1054M |
probably damaging |
Het |
| Flywch1 |
T |
C |
17: 23,974,798 (GRCm39) |
D614G |
probably damaging |
Het |
| Frmd3 |
T |
C |
4: 74,071,858 (GRCm39) |
F247L |
probably damaging |
Het |
| Gm1527 |
A |
G |
3: 28,968,632 (GRCm39) |
N228S |
probably benign |
Het |
| Gpld1 |
T |
A |
13: 25,146,791 (GRCm39) |
L251Q |
probably damaging |
Het |
| Gvin-ps3 |
C |
T |
7: 105,682,686 (GRCm39) |
A190T |
probably benign |
Het |
| Gzma |
C |
T |
13: 113,232,742 (GRCm39) |
V117I |
probably benign |
Het |
| Hydin |
C |
A |
8: 111,301,663 (GRCm39) |
T3798K |
probably benign |
Het |
| Il1rapl1 |
T |
A |
X: 85,790,904 (GRCm39) |
S679C |
possibly damaging |
Het |
| Lrrc8c |
G |
A |
5: 105,756,045 (GRCm39) |
A607T |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Mfsd4b4 |
A |
T |
10: 39,768,136 (GRCm39) |
M319K |
probably damaging |
Het |
| Mroh2b |
A |
C |
15: 4,947,799 (GRCm39) |
H538P |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nup188 |
A |
G |
2: 30,233,807 (GRCm39) |
T1733A |
probably benign |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Ofcc1 |
A |
G |
13: 40,296,263 (GRCm39) |
S524P |
probably benign |
Het |
| Or6x1 |
C |
T |
9: 40,098,435 (GRCm39) |
T8I |
possibly damaging |
Het |
| Padi4 |
C |
T |
4: 140,479,914 (GRCm39) |
S413N |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,668,894 (GRCm39) |
*1015W |
probably null |
Het |
| Pkhd1 |
G |
A |
1: 20,444,120 (GRCm39) |
P2314L |
probably damaging |
Het |
| Serpinb9c |
C |
G |
13: 33,335,817 (GRCm39) |
V212L |
probably benign |
Het |
| Slc25a23 |
A |
G |
17: 57,366,622 (GRCm39) |
F18L |
probably damaging |
Het |
| Smarca4 |
C |
A |
9: 21,570,251 (GRCm39) |
N751K |
probably damaging |
Het |
| Tfip11 |
G |
T |
5: 112,480,899 (GRCm39) |
V292L |
probably benign |
Het |
| Tnrc18 |
T |
C |
5: 142,751,702 (GRCm39) |
K1201R |
unknown |
Het |
| Vmn1r199 |
T |
C |
13: 22,567,671 (GRCm39) |
F322L |
probably benign |
Het |
| Vmn1r201 |
T |
C |
13: 22,658,849 (GRCm39) |
V21A |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,107 (GRCm39) |
I699K |
probably damaging |
Het |
| Vmn2r117 |
T |
C |
17: 23,679,527 (GRCm39) |
N566D |
probably damaging |
Het |
| Wdr12 |
A |
T |
1: 60,127,231 (GRCm39) |
D141E |
probably benign |
Het |
| Zfp974 |
A |
G |
7: 27,610,634 (GRCm39) |
S364P |
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 |
|
|
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'- GGCTTCAGTCAACAAGTTCCTGCTC -3'
(R):5'- GTGGCAGAATACTGTCTCCCACAC -3'
Sequencing Primer
(F):5'- GGGAGCCATATGTAAGATTCTAGC -3'
(R):5'- GAATACTGTCTCCCACACAGGTTC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation