Incidental Mutation 'R0673:Dgkq'
| ID |
61512 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkq
|
| Ensembl Gene |
ENSMUSG00000004815 |
| Gene Name |
diacylglycerol kinase, theta |
| Synonyms |
Dagk4, Dgk theta, 110kDa, DAGK7, Dgkd |
| MMRRC Submission |
038858-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0673 (G1)
|
| Quality Score |
154 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
108794910-108808696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108803455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 217
(H217R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053913]
[ENSMUST00000071650]
[ENSMUST00000132179]
[ENSMUST00000132708]
[ENSMUST00000153238]
|
| AlphaFold |
Q6P5E8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053913
AA Change: H217R
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000057859
Gene: ENSMUSG00000004815
AA Change: H217R
| 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 |
unknown
Transcript: ENSMUST00000132179
AA Change: T202A
|
| SMART Domains |
Protein: ENSMUSP00000118466
Gene: ENSMUSG00000004815
AA Change: T202A
| 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 |
unknown
Transcript: ENSMUST00000132708
AA Change: T114A
|
| SMART Domains |
Protein: ENSMUSP00000122837
Gene: ENSMUSG00000004815
AA Change: T114A
| 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 |
unknown
Transcript: ENSMUST00000153238
AA Change: T202A
|
| SMART Domains |
Protein: ENSMUSP00000118065
Gene: ENSMUSG00000004815
AA Change: T202A
| 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: ENSMUST00000156964
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153365
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600014C23Rik |
C |
T |
17: 46,043,999 (GRCm39) |
W86* |
probably null |
Het |
| 2700049A03Rik |
C |
T |
12: 71,224,642 (GRCm39) |
P894S |
probably damaging |
Het |
| Adgrg7 |
A |
T |
16: 56,593,849 (GRCm39) |
N122K |
possibly damaging |
Het |
| Ankrd13d |
A |
T |
19: 4,323,047 (GRCm39) |
|
probably null |
Het |
| Blm |
A |
T |
7: 80,149,499 (GRCm39) |
|
probably null |
Het |
| Caml |
C |
T |
13: 55,779,641 (GRCm39) |
T238M |
probably damaging |
Het |
| Casd1 |
T |
A |
6: 4,624,440 (GRCm39) |
V411D |
possibly damaging |
Het |
| Cdc25b |
A |
G |
2: 131,039,182 (GRCm39) |
N516D |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,226,505 (GRCm39) |
I2861T |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,777,336 (GRCm39) |
L1294P |
probably damaging |
Het |
| Cxxc1 |
A |
G |
18: 74,351,984 (GRCm39) |
D287G |
possibly damaging |
Het |
| Disp2 |
A |
T |
2: 118,621,325 (GRCm39) |
I686F |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,100,794 (GRCm39) |
N2003I |
probably benign |
Het |
| Dsc3 |
T |
A |
18: 20,122,647 (GRCm39) |
R92S |
probably damaging |
Het |
| Ei24 |
T |
G |
9: 36,699,551 (GRCm39) |
|
probably null |
Het |
| Fgl1 |
G |
T |
8: 41,644,661 (GRCm39) |
T281K |
probably benign |
Het |
| Gbp3 |
A |
G |
3: 142,271,015 (GRCm39) |
T140A |
probably benign |
Het |
| Gtpbp3 |
A |
T |
8: 71,945,379 (GRCm39) |
I485F |
probably damaging |
Het |
| Harbi1 |
C |
T |
2: 91,542,880 (GRCm39) |
R114W |
probably damaging |
Het |
| Inmt |
A |
C |
6: 55,148,212 (GRCm39) |
V139G |
probably damaging |
Het |
| Inpp5j |
T |
A |
11: 3,451,147 (GRCm39) |
M501L |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,062,588 (GRCm39) |
N1647S |
probably damaging |
Het |
| Lgals9 |
A |
G |
11: 78,856,679 (GRCm39) |
F252L |
probably damaging |
Het |
| Lingo3 |
C |
A |
10: 80,671,618 (GRCm39) |
R104L |
probably benign |
Het |
| Lrrc8c |
G |
A |
5: 105,755,544 (GRCm39) |
V440M |
probably damaging |
Het |
| Mybpc3 |
G |
A |
2: 90,950,772 (GRCm39) |
G36D |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,998,773 (GRCm39) |
N1254K |
probably benign |
Het |
| Neb |
A |
G |
2: 52,146,136 (GRCm39) |
V2947A |
possibly damaging |
Het |
| Nudt12 |
A |
T |
17: 59,314,617 (GRCm39) |
|
probably null |
Het |
| Or2l5 |
A |
G |
16: 19,334,146 (GRCm39) |
M80T |
probably damaging |
Het |
| Or4c3d |
A |
C |
2: 89,882,596 (GRCm39) |
M24R |
probably benign |
Het |
| Otop1 |
T |
C |
5: 38,445,292 (GRCm39) |
V150A |
possibly damaging |
Het |
| Prr14l |
C |
T |
5: 32,986,259 (GRCm39) |
D1079N |
probably benign |
Het |
| Rasal1 |
A |
G |
5: 120,808,449 (GRCm39) |
T494A |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,447,664 (GRCm39) |
K3237E |
possibly damaging |
Het |
| Sh3d19 |
T |
C |
3: 86,014,280 (GRCm39) |
S415P |
probably benign |
Het |
| Sypl1 |
A |
T |
12: 33,015,420 (GRCm39) |
T40S |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,613,333 (GRCm39) |
|
probably null |
Het |
| Tmed8 |
A |
G |
12: 87,220,878 (GRCm39) |
V236A |
probably damaging |
Het |
| Vmn1r33 |
T |
C |
6: 66,588,783 (GRCm39) |
Y257C |
probably damaging |
Het |
| Yme1l1 |
T |
C |
2: 23,058,300 (GRCm39) |
F144S |
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 |
|
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 |
|
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'- GACAAAGCCCTTATACTCACTGCCTG -3'
(R):5'- AAGACTTGTGGTTCCTCAGATGTGC -3'
Sequencing Primer
(F):5'- GCCAGGGCATACCCCAG -3'
(R):5'- CCCTTGAGTGTGGGACAAAAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation