Incidental Mutation 'R1069:Dgkq'
| ID |
86124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkq
|
| Ensembl Gene |
ENSMUSG00000004815 |
| Gene Name |
diacylglycerol kinase, theta |
| Synonyms |
110kDa, DAGK7, Dagk4, Dgkd, Dgk theta |
| MMRRC Submission |
039155-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1069 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
108646693-108669672 bp(-) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 108656037 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053913]
[ENSMUST00000071650]
[ENSMUST00000132179]
[ENSMUST00000132708]
[ENSMUST00000153238]
|
| AlphaFold |
Q6P5E8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053913
|
| SMART Domains |
Protein: ENSMUSP00000057859
Gene: ENSMUSG00000004815
| 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: ENSMUST00000071650
|
| SMART Domains |
Protein: ENSMUSP00000071577
Gene: ENSMUSG00000033540
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_39
|
22 |
542 |
1.4e-223 |
PFAM |
|
SCOP:d1bpv__
|
546 |
643 |
3e-8 |
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 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156964
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
100% (33/33) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610203C20Rik |
G |
A |
9: 41,590,298 |
R151H |
possibly damaging |
Het |
| 4921524L21Rik |
A |
G |
18: 6,624,037 |
N106S |
probably benign |
Het |
| Akr1c21 |
C |
A |
13: 4,575,334 |
|
probably benign |
Het |
| Alpk2 |
G |
A |
18: 65,305,014 |
R1570C |
probably benign |
Het |
| Atp8b3 |
G |
A |
10: 80,531,018 |
R249C |
probably damaging |
Het |
| Cacnb4 |
C |
A |
2: 52,455,611 |
R252I |
probably damaging |
Het |
| Cars |
T |
C |
7: 143,570,107 |
T480A |
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,223,997 |
C745* |
probably null |
Het |
| Ccr8 |
A |
G |
9: 120,094,217 |
I133V |
probably benign |
Het |
| Cndp1 |
G |
A |
18: 84,634,652 |
|
probably benign |
Het |
| Ecd |
A |
G |
14: 20,333,436 |
C312R |
probably damaging |
Het |
| Epp13 |
A |
T |
7: 6,255,922 |
|
probably null |
Het |
| Gstm1 |
T |
C |
3: 108,012,748 |
S226G |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,417,778 |
A488T |
probably damaging |
Het |
| Hacd4 |
T |
A |
4: 88,437,502 |
I49L |
probably damaging |
Het |
| Hid1 |
T |
C |
11: 115,356,765 |
N269S |
probably damaging |
Het |
| Ifitm3 |
A |
T |
7: 141,009,900 |
|
probably benign |
Het |
| Kctd9 |
C |
T |
14: 67,729,420 |
|
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,950,851 |
L1131P |
probably damaging |
Het |
| Kif2c |
T |
C |
4: 117,178,153 |
T33A |
probably damaging |
Het |
| Lipc |
T |
C |
9: 70,823,537 |
T38A |
probably benign |
Het |
| Lrguk |
A |
C |
6: 34,048,883 |
I205L |
possibly damaging |
Het |
| Ncapg |
T |
A |
5: 45,675,930 |
|
probably benign |
Het |
| Ptprd |
A |
G |
4: 75,998,487 |
|
probably benign |
Het |
| Ptprd |
T |
A |
4: 76,100,633 |
K635* |
probably null |
Het |
| Sap130 |
G |
A |
18: 31,711,629 |
V898I |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,281,654 |
V830M |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,070,239 |
G2516R |
probably damaging |
Het |
| Tas2r131 |
C |
T |
6: 132,957,825 |
R7K |
probably benign |
Het |
| Tfpi |
A |
G |
2: 84,453,792 |
|
probably benign |
Het |
| Trim80 |
T |
C |
11: 115,448,083 |
C580R |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,969,929 |
I312F |
unknown |
Het |
|
| Other mutations in Dgkq |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00491:Dgkq
|
APN |
5 |
108654582 |
missense |
possibly damaging |
0.72 |
|
IGL02364:Dgkq
|
APN |
5 |
108656444 |
missense |
probably benign |
0.05 |
|
IGL02966:Dgkq
|
APN |
5 |
108656421 |
splice site |
probably null |
|
|
IGL03297:Dgkq
|
APN |
5 |
108650274 |
missense |
probably damaging |
1.00 |
|
R0179:Dgkq
|
UTSW |
5 |
108658200 |
splice site |
probably benign |
|
|
R0194:Dgkq
|
UTSW |
5 |
108654644 |
intron |
probably benign |
|
|
R0332:Dgkq
|
UTSW |
5 |
108655099 |
splice site |
probably benign |
|
|
R0513:Dgkq
|
UTSW |
5 |
108656495 |
missense |
probably benign |
0.02 |
|
R0525:Dgkq
|
UTSW |
5 |
108654615 |
missense |
probably damaging |
1.00 |
|
R0673:Dgkq
|
UTSW |
5 |
108655589 |
missense |
probably damaging |
0.97 |
|
R0801:Dgkq
|
UTSW |
5 |
108660720 |
splice site |
probably null |
|
|
R0850:Dgkq
|
UTSW |
5 |
108654578 |
missense |
possibly damaging |
0.82 |
|
R0944:Dgkq
|
UTSW |
5 |
108656465 |
missense |
probably damaging |
1.00 |
|
R1411:Dgkq
|
UTSW |
5 |
108650362 |
missense |
probably damaging |
1.00 |
|
R1488:Dgkq
|
UTSW |
5 |
108650877 |
missense |
probably damaging |
1.00 |
|
R1858:Dgkq
|
UTSW |
5 |
108653731 |
missense |
probably benign |
0.00 |
|
R1874:Dgkq
|
UTSW |
5 |
108660595 |
missense |
probably benign |
0.07 |
|
R2210:Dgkq
|
UTSW |
5 |
108660523 |
missense |
probably damaging |
1.00 |
|
R4499:Dgkq
|
UTSW |
5 |
108649661 |
missense |
possibly damaging |
0.54 |
|
R5061:Dgkq
|
UTSW |
5 |
108654123 |
missense |
probably benign |
0.02 |
|
R5474:Dgkq
|
UTSW |
5 |
108649143 |
critical splice donor site |
probably null |
|
|
R5481:Dgkq
|
UTSW |
5 |
108648810 |
splice site |
probably null |
|
|
R5951:Dgkq
|
UTSW |
5 |
108654370 |
missense |
probably damaging |
1.00 |
|
R6193:Dgkq
|
UTSW |
5 |
108655500 |
nonsense |
probably null |
|
|
R6429:Dgkq
|
UTSW |
5 |
108653708 |
missense |
probably damaging |
1.00 |
|
R6458:Dgkq
|
UTSW |
5 |
108654376 |
missense |
possibly damaging |
0.93 |
|
R7388:Dgkq
|
UTSW |
5 |
108658246 |
missense |
probably damaging |
0.99 |
|
R7398:Dgkq
|
UTSW |
5 |
108655190 |
missense |
possibly damaging |
0.90 |
|
R8098:Dgkq
|
UTSW |
5 |
108652468 |
missense |
probably damaging |
1.00 |
|
R8244:Dgkq
|
UTSW |
5 |
108648712 |
makesense |
probably null |
|
|
R8956:Dgkq
|
UTSW |
5 |
108650229 |
missense |
probably benign |
0.22 |
|
R9043:Dgkq
|
UTSW |
5 |
108653195 |
missense |
probably damaging |
1.00 |
|
R9360:Dgkq
|
UTSW |
5 |
108650603 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGGTGCTACGCCATAACTCAG -3'
(R):5'- CAACAGTATGAGCCTACCAGGCAG -3'
Sequencing Primer
(F):5'- ACTTGAAAAAGAGGAACTTTCCC -3'
(R):5'- TCAGGCTAAAAGAAGCTGGTTC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation