Incidental Mutation 'R1488:Dgkq'
| ID |
165492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkq
|
| Ensembl Gene |
ENSMUSG00000004815 |
| Gene Name |
diacylglycerol kinase, theta |
| Synonyms |
Dagk4, Dgk theta, 110kDa, DAGK7, Dgkd |
| MMRRC Submission |
039540-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1488 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
108794910-108808696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108798743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 601
(F601S)
|
| 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: F601S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057859
Gene: ENSMUSG00000004815
AA Change: F601S
| 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: ENSMUST00000139598
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156964
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145917
|
| 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 |
0.8976 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.3%
|
| Validation Efficiency |
100% (53/53) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l2 |
A |
G |
6: 48,910,381 (GRCm39) |
N691S |
possibly damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,391,685 (GRCm39) |
S1401G |
possibly damaging |
Het |
| Art2b |
A |
C |
7: 101,229,414 (GRCm39) |
F162V |
probably damaging |
Het |
| Atg4c |
T |
A |
4: 99,109,479 (GRCm39) |
W149R |
probably damaging |
Het |
| Atxn1l |
A |
G |
8: 110,460,049 (GRCm39) |
I71T |
probably benign |
Het |
| Axdnd1 |
T |
A |
1: 156,176,530 (GRCm39) |
L748F |
probably damaging |
Het |
| Bdh2 |
A |
G |
3: 135,002,602 (GRCm39) |
Y157C |
probably damaging |
Het |
| C2cd4a |
G |
T |
9: 67,738,990 (GRCm39) |
R18S |
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,560,526 (GRCm39) |
H839R |
probably damaging |
Het |
| Ccdc24 |
C |
A |
4: 117,727,765 (GRCm39) |
S134I |
possibly damaging |
Het |
| Cd55 |
G |
T |
1: 130,376,115 (GRCm39) |
T70K |
probably damaging |
Het |
| Cdh10 |
A |
T |
15: 19,013,349 (GRCm39) |
I650F |
probably damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,789,925 (GRCm39) |
K470N |
possibly damaging |
Het |
| Csn2 |
G |
A |
5: 87,842,755 (GRCm39) |
Q91* |
probably null |
Het |
| Ctsh |
G |
A |
9: 89,953,944 (GRCm39) |
D218N |
possibly damaging |
Het |
| Cyb5r4 |
C |
G |
9: 86,911,591 (GRCm39) |
Y88* |
probably null |
Het |
| Eci2 |
A |
G |
13: 35,161,916 (GRCm39) |
V352A |
probably benign |
Het |
| Krt28 |
T |
C |
11: 99,255,997 (GRCm39) |
T421A |
probably benign |
Het |
| Lamp5 |
T |
C |
2: 135,911,011 (GRCm39) |
V248A |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,515,850 (GRCm39) |
L483Q |
possibly damaging |
Het |
| Lrp1b |
C |
A |
2: 41,392,036 (GRCm39) |
M509I |
probably benign |
Het |
| Lrrfip1 |
T |
C |
1: 91,042,354 (GRCm39) |
V253A |
probably damaging |
Het |
| Mpdz |
C |
A |
4: 81,266,945 (GRCm39) |
E981* |
probably null |
Het |
| Mpo |
A |
C |
11: 87,688,256 (GRCm39) |
N305T |
probably damaging |
Het |
| Or2y1 |
A |
G |
11: 49,385,945 (GRCm39) |
E195G |
probably benign |
Het |
| Or51a24 |
T |
C |
7: 103,733,859 (GRCm39) |
I143V |
probably benign |
Het |
| Or5p79 |
A |
T |
7: 108,221,696 (GRCm39) |
I226F |
probably damaging |
Het |
| Papss2 |
T |
C |
19: 32,614,490 (GRCm39) |
S69P |
probably benign |
Het |
| Pcdhb22 |
A |
G |
18: 37,652,941 (GRCm39) |
T470A |
possibly damaging |
Het |
| Plce1 |
A |
G |
19: 38,705,247 (GRCm39) |
D884G |
possibly damaging |
Het |
| Prex2 |
T |
A |
1: 11,263,752 (GRCm39) |
I1239K |
probably benign |
Het |
| Prkd2 |
T |
A |
7: 16,592,364 (GRCm39) |
F625I |
probably damaging |
Het |
| Rab20 |
A |
T |
8: 11,504,268 (GRCm39) |
V144E |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,371,715 (GRCm39) |
N4840S |
probably benign |
Het |
| Scaf8 |
T |
G |
17: 3,247,872 (GRCm39) |
M1065R |
probably damaging |
Het |
| Slco3a1 |
A |
G |
7: 73,996,449 (GRCm39) |
L319P |
possibly damaging |
Het |
| Slit1 |
A |
G |
19: 41,596,824 (GRCm39) |
C1092R |
probably damaging |
Het |
| Tlr4 |
A |
G |
4: 66,757,786 (GRCm39) |
D193G |
probably damaging |
Het |
| Tmem145 |
T |
A |
7: 25,006,860 (GRCm39) |
|
probably null |
Het |
| Tmem184a |
T |
A |
5: 139,793,395 (GRCm39) |
K235N |
probably benign |
Het |
| Tnpo1 |
A |
T |
13: 98,993,415 (GRCm39) |
D590E |
probably damaging |
Het |
| Trio |
C |
A |
15: 27,741,053 (GRCm39) |
G2724V |
probably damaging |
Het |
| Ttc6 |
A |
T |
12: 57,696,301 (GRCm39) |
Y34F |
possibly damaging |
Het |
| Tuba4a |
T |
C |
1: 75,193,045 (GRCm39) |
T190A |
probably benign |
Het |
| Tubgcp4 |
T |
G |
2: 121,007,031 (GRCm39) |
V136G |
possibly damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn1r74 |
T |
C |
7: 11,581,510 (GRCm39) |
I270T |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,013,922 (GRCm39) |
E238V |
probably damaging |
Het |
| Vmn2r60 |
T |
A |
7: 41,786,137 (GRCm39) |
F313L |
probably benign |
Het |
| Zfp710 |
T |
C |
7: 79,731,752 (GRCm39) |
Y310H |
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 |
|
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'- TCGATGACTAAGCCCACCTGTACC -3'
(R):5'- TTGGAACCTGAGGCTGGATACTGC -3'
Sequencing Primer
(F):5'- GGGAGACAGTATTCTGCCACTAC -3'
(R):5'- CTGCTTAGCAGTTCCAGTGTG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation