Incidental Mutation 'R0944:Dgkq'
| ID |
82000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkq
|
| Ensembl Gene |
ENSMUSG00000004815 |
| Gene Name |
diacylglycerol kinase, theta |
| Synonyms |
Dagk4, Dgk theta, 110kDa, DAGK7, Dgkd |
| MMRRC Submission |
039083-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0944 (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 108804331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 131
(V131A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053913]
[ENSMUST00000071650]
[ENSMUST00000132179]
[ENSMUST00000132708]
[ENSMUST00000153238]
|
| AlphaFold |
Q6P5E8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053913
AA Change: V131A
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000057859
Gene: ENSMUSG00000004815
AA Change: V131A
| 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 damaging
Transcript: ENSMUST00000132179
AA Change: V131A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118466
Gene: ENSMUSG00000004815
AA Change: V131A
| 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 damaging
Transcript: ENSMUST00000132708
AA Change: V43A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122837
Gene: ENSMUSG00000004815
AA Change: V43A
| 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 |
probably damaging
Transcript: ENSMUST00000153238
AA Change: V131A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118065
Gene: ENSMUSG00000004815
AA Change: V131A
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144624
|
| Meta Mutation Damage Score |
0.2290 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.3%
- 20x: 94.3%
|
| Validation Efficiency |
100% (51/51) |
| 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 |
|---|
| 3110018I06Rik |
G |
A |
12: 107,455,268 (GRCm39) |
R118K |
unknown |
Het |
| Abcc6 |
T |
A |
7: 45,664,929 (GRCm39) |
I301F |
possibly damaging |
Het |
| Akap9 |
C |
A |
5: 4,114,742 (GRCm39) |
|
probably null |
Het |
| Alg6 |
A |
G |
4: 99,650,297 (GRCm39) |
I506V |
probably benign |
Het |
| B3gat1 |
C |
T |
9: 26,668,237 (GRCm39) |
R276C |
probably damaging |
Het |
| Camk1 |
A |
G |
6: 113,315,352 (GRCm39) |
Y105H |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,515,777 (GRCm39) |
N634S |
probably damaging |
Het |
| Clcn1 |
C |
A |
6: 42,290,075 (GRCm39) |
Q837K |
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,506,510 (GRCm39) |
|
probably benign |
Het |
| Col22a1 |
T |
C |
15: 71,753,511 (GRCm39) |
I130V |
probably benign |
Het |
| Coro2b |
T |
C |
9: 62,335,263 (GRCm39) |
S308G |
probably benign |
Het |
| Cpxm1 |
A |
G |
2: 130,239,423 (GRCm39) |
W2R |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,475,227 (GRCm39) |
N3364S |
probably damaging |
Het |
| Dnai1 |
A |
G |
4: 41,629,997 (GRCm39) |
S469G |
probably benign |
Het |
| Efcab3 |
T |
G |
11: 104,601,556 (GRCm39) |
|
probably null |
Het |
| Eml4 |
G |
A |
17: 83,785,489 (GRCm39) |
E885K |
probably benign |
Het |
| Etfa |
A |
T |
9: 55,396,122 (GRCm39) |
I148N |
probably damaging |
Het |
| Gpbar1 |
A |
G |
1: 74,318,681 (GRCm39) |
D308G |
probably benign |
Het |
| Gprin3 |
T |
C |
6: 59,330,900 (GRCm39) |
E469G |
possibly damaging |
Het |
| Igkv1-115 |
T |
C |
6: 68,138,667 (GRCm39) |
V90A |
probably damaging |
Het |
| Ints2 |
A |
G |
11: 86,135,289 (GRCm39) |
V375A |
possibly damaging |
Het |
| Mindy3 |
T |
C |
2: 12,400,993 (GRCm39) |
M242V |
possibly damaging |
Het |
| Or11m3 |
A |
G |
15: 98,395,565 (GRCm39) |
I71V |
probably benign |
Het |
| Or1n1b |
T |
C |
2: 36,780,698 (GRCm39) |
H54R |
probably damaging |
Het |
| Or5t9 |
A |
C |
2: 86,659,281 (GRCm39) |
I62L |
probably benign |
Het |
| P3h1 |
G |
A |
4: 119,095,956 (GRCm39) |
E355K |
probably benign |
Het |
| Paxbp1 |
T |
C |
16: 90,820,315 (GRCm39) |
T703A |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,046,302 (GRCm39) |
Y193F |
probably damaging |
Het |
| Pdxdc1 |
A |
G |
16: 13,656,233 (GRCm39) |
V613A |
probably damaging |
Het |
| Plekha5 |
T |
C |
6: 140,515,922 (GRCm39) |
|
probably benign |
Het |
| Pmel |
A |
T |
10: 128,551,126 (GRCm39) |
Q123L |
possibly damaging |
Het |
| Prl6a1 |
T |
C |
13: 27,502,149 (GRCm39) |
|
probably benign |
Het |
| Rcan1 |
T |
C |
16: 92,190,379 (GRCm39) |
T187A |
probably damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,269,681 (GRCm39) |
S1756G |
probably benign |
Het |
| Runx2 |
A |
T |
17: 44,919,123 (GRCm39) |
M405K |
probably damaging |
Het |
| Serinc5 |
T |
C |
13: 92,797,613 (GRCm39) |
Y39H |
probably damaging |
Het |
| Sgsm1 |
G |
A |
5: 113,413,740 (GRCm39) |
T676I |
probably benign |
Het |
| Slc6a15 |
G |
C |
10: 103,245,657 (GRCm39) |
V547L |
probably benign |
Het |
| Slk |
T |
C |
19: 47,597,432 (GRCm39) |
I80T |
probably damaging |
Het |
| Spice1 |
A |
G |
16: 44,205,124 (GRCm39) |
N810S |
probably benign |
Het |
| Spred2 |
A |
G |
11: 19,951,104 (GRCm39) |
|
probably benign |
Het |
| Tbc1d4 |
C |
G |
14: 101,716,656 (GRCm39) |
|
probably benign |
Het |
| Tdrd7 |
G |
A |
4: 46,029,762 (GRCm39) |
V1032M |
probably benign |
Het |
| Tlr11 |
A |
G |
14: 50,599,793 (GRCm39) |
N593S |
probably benign |
Het |
| Trpa1 |
T |
C |
1: 14,982,585 (GRCm39) |
|
probably null |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Usp25 |
T |
C |
16: 76,878,335 (GRCm39) |
|
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,167,665 (GRCm39) |
S640T |
probably benign |
Het |
| Zc3h6 |
A |
G |
2: 128,848,736 (GRCm39) |
Y321C |
probably damaging |
Het |
| Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
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 |
|
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'- CACATAATCCTGCTGTCCATCCTGG -3'
(R):5'- AGCAGTTACCAACAGGTAATGCTGG -3'
Sequencing Primer
(F):5'- TACTGTTGGAGCCCCCAAAG -3'
(R):5'- TAATGCTGGGCCAGTTCACAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation