Incidental Mutation 'IGL02966:Dgkq'
| ID |
365618 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dgkq
|
| Ensembl Gene |
ENSMUSG00000004815 |
| Gene Name |
diacylglycerol kinase, theta |
| Synonyms |
Dagk4, Dgk theta, 110kDa, DAGK7, Dgkd |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02966
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
108794910-108808696 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 108804287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053913]
[ENSMUST00000071650]
[ENSMUST00000132179]
[ENSMUST00000132708]
[ENSMUST00000153238]
|
| AlphaFold |
Q6P5E8 |
| Predicted Effect |
probably null
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
|
| Coding Region Coverage |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930595M18Rik |
A |
T |
X: 80,463,317 (GRCm39) |
Y797N |
possibly damaging |
Het |
| Actbl2 |
G |
A |
13: 111,392,106 (GRCm39) |
G147E |
probably damaging |
Het |
| Adam18 |
A |
T |
8: 25,101,165 (GRCm39) |
|
probably benign |
Het |
| Ahcyl2 |
G |
A |
6: 29,880,556 (GRCm39) |
V175I |
probably benign |
Het |
| Alox12 |
T |
A |
11: 70,140,911 (GRCm39) |
T375S |
probably damaging |
Het |
| Batf2 |
C |
A |
19: 6,221,819 (GRCm39) |
Q210K |
probably damaging |
Het |
| Bicd1 |
T |
C |
6: 149,385,494 (GRCm39) |
S76P |
probably damaging |
Het |
| Bphl |
A |
T |
13: 34,247,980 (GRCm39) |
H251L |
probably damaging |
Het |
| C130074G19Rik |
C |
A |
1: 184,614,943 (GRCm39) |
E82D |
probably damaging |
Het |
| Calu |
A |
T |
6: 29,356,584 (GRCm39) |
K39* |
probably null |
Het |
| Capns1 |
T |
C |
7: 29,891,618 (GRCm39) |
D142G |
probably damaging |
Het |
| Ccr8 |
T |
C |
9: 119,923,206 (GRCm39) |
V107A |
probably damaging |
Het |
| Cep170b |
G |
A |
12: 112,702,878 (GRCm39) |
G447D |
possibly damaging |
Het |
| Chat |
C |
T |
14: 32,170,903 (GRCm39) |
V199M |
probably damaging |
Het |
| Cntnap1 |
G |
T |
11: 101,075,575 (GRCm39) |
V918L |
probably damaging |
Het |
| Cyp27a1 |
A |
G |
1: 74,771,249 (GRCm39) |
T145A |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,369,948 (GRCm39) |
I4458V |
probably benign |
Het |
| Enpp1 |
T |
A |
10: 24,536,172 (GRCm39) |
E409D |
probably damaging |
Het |
| Fam78b |
G |
T |
1: 166,906,457 (GRCm39) |
L205F |
probably damaging |
Het |
| Foxr2 |
C |
A |
X: 151,913,677 (GRCm39) |
R183S |
probably damaging |
Het |
| Ganc |
T |
C |
2: 120,264,129 (GRCm39) |
S361P |
probably damaging |
Het |
| Gfra4 |
C |
A |
2: 130,884,560 (GRCm39) |
A15S |
possibly damaging |
Het |
| Gm8011 |
A |
T |
14: 42,287,957 (GRCm39) |
D145V |
unknown |
Het |
| Gnb4 |
A |
G |
3: 32,639,372 (GRCm39) |
V307A |
probably benign |
Het |
| Hdac4 |
A |
T |
1: 91,982,667 (GRCm39) |
V17E |
possibly damaging |
Het |
| Herc6 |
G |
A |
6: 57,560,318 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
A |
G |
4: 119,989,383 (GRCm39) |
T1945A |
probably benign |
Het |
| Ica1l |
A |
T |
1: 60,049,298 (GRCm39) |
N218K |
probably damaging |
Het |
| Kmt2b |
A |
T |
7: 30,274,887 (GRCm39) |
L1939Q |
probably benign |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Marchf8 |
C |
T |
6: 116,380,499 (GRCm39) |
R117C |
probably damaging |
Het |
| Megf6 |
T |
C |
4: 154,338,234 (GRCm39) |
S327P |
probably damaging |
Het |
| Mocos |
T |
G |
18: 24,809,668 (GRCm39) |
C424G |
probably damaging |
Het |
| Mrpl50 |
A |
G |
4: 49,521,014 (GRCm39) |
W14R |
probably benign |
Het |
| Mysm1 |
A |
T |
4: 94,863,523 (GRCm39) |
D23E |
probably benign |
Het |
| Naa35 |
T |
A |
13: 59,734,085 (GRCm39) |
D34E |
probably benign |
Het |
| Nid1 |
A |
G |
13: 13,656,806 (GRCm39) |
I646V |
probably benign |
Het |
| Nupr1 |
T |
C |
7: 126,224,073 (GRCm39) |
|
probably benign |
Het |
| Or2aj6 |
G |
T |
16: 19,443,051 (GRCm39) |
H266Q |
probably damaging |
Het |
| Or5b24 |
A |
T |
19: 12,912,164 (GRCm39) |
I21F |
probably benign |
Het |
| Or8b12b |
T |
G |
9: 37,684,882 (GRCm39) |
L309R |
probably benign |
Het |
| Pcbp2 |
A |
C |
15: 102,392,684 (GRCm39) |
|
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,232,156 (GRCm39) |
Q158R |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,289,291 (GRCm39) |
Y703C |
probably damaging |
Het |
| Plxnb3 |
T |
C |
X: 72,808,889 (GRCm39) |
S885P |
probably benign |
Het |
| Poc1b |
T |
A |
10: 98,980,176 (GRCm39) |
C136S |
probably damaging |
Het |
| Pole2 |
T |
C |
12: 69,256,649 (GRCm39) |
D292G |
probably damaging |
Het |
| Prpf39 |
T |
C |
12: 65,089,553 (GRCm39) |
V97A |
probably benign |
Het |
| Rbbp8 |
T |
A |
18: 11,838,869 (GRCm39) |
H183Q |
possibly damaging |
Het |
| Scn2a |
C |
T |
2: 65,532,188 (GRCm39) |
T600M |
possibly damaging |
Het |
| Spata32 |
T |
C |
11: 103,099,629 (GRCm39) |
Q292R |
possibly damaging |
Het |
| Sugp1 |
T |
C |
8: 70,523,758 (GRCm39) |
|
probably benign |
Het |
| Sult3a1 |
A |
C |
10: 33,753,269 (GRCm39) |
|
probably benign |
Het |
| Tpm3-rs7 |
C |
T |
14: 113,552,810 (GRCm39) |
Q235* |
probably null |
Het |
| Trbv2 |
A |
T |
6: 41,024,685 (GRCm39) |
T34S |
possibly damaging |
Het |
| Tssk6 |
A |
G |
8: 70,355,535 (GRCm39) |
Y193C |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,538,802 (GRCm39) |
K34676R |
possibly damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,370,154 (GRCm39) |
Y433H |
probably damaging |
Het |
| Wdhd1 |
T |
C |
14: 47,479,101 (GRCm39) |
K1072E |
possibly 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 |
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation