Incidental Mutation 'IGL02364:Dgkq'
ID |
290645 |
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 # |
IGL02364
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
108794910-108808696 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 108804310 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 50
(V50A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122837
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053913]
[ENSMUST00000071650]
[ENSMUST00000132179]
[ENSMUST00000132708]
[ENSMUST00000153238]
|
AlphaFold |
Q6P5E8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053913
AA Change: V138A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000057859 Gene: ENSMUSG00000004815 AA Change: V138A
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
AA Change: V138A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000118466 Gene: ENSMUSG00000004815 AA Change: V138A
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
AA Change: V50A
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000122837 Gene: ENSMUSG00000004815 AA Change: V50A
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 benign
Transcript: ENSMUST00000153238
AA Change: V138A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000118065 Gene: ENSMUSG00000004815 AA Change: V138A
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: ENSMUST00000144624
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156964
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153365
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bdp1 |
A |
T |
13: 100,191,816 (GRCm39) |
|
probably benign |
Het |
Car8 |
T |
C |
4: 8,183,321 (GRCm39) |
I225V |
probably benign |
Het |
Cc2d2a |
T |
A |
5: 43,892,792 (GRCm39) |
N1390K |
probably damaging |
Het |
Coasy |
T |
C |
11: 100,975,184 (GRCm39) |
V247A |
possibly damaging |
Het |
Dixdc1 |
A |
T |
9: 50,593,931 (GRCm39) |
|
probably benign |
Het |
Dmxl2 |
G |
A |
9: 54,301,127 (GRCm39) |
A2328V |
probably benign |
Het |
Exoc3l |
C |
A |
8: 106,017,209 (GRCm39) |
V593L |
possibly damaging |
Het |
Eya3 |
T |
C |
4: 132,437,366 (GRCm39) |
S409P |
probably damaging |
Het |
Garin4 |
T |
C |
1: 190,895,713 (GRCm39) |
N310S |
probably benign |
Het |
Gbp4 |
A |
T |
5: 105,284,740 (GRCm39) |
S50T |
probably damaging |
Het |
Gm5885 |
A |
G |
6: 133,507,092 (GRCm39) |
|
noncoding transcript |
Het |
H2ap |
G |
T |
X: 9,713,629 (GRCm39) |
|
probably benign |
Het |
Igkv12-89 |
A |
T |
6: 68,811,970 (GRCm39) |
Y66* |
probably null |
Het |
Itgax |
G |
A |
7: 127,739,154 (GRCm39) |
V601M |
possibly damaging |
Het |
Kank3 |
T |
C |
17: 34,037,824 (GRCm39) |
V291A |
probably benign |
Het |
Klhl9 |
A |
G |
4: 88,639,407 (GRCm39) |
M278T |
probably damaging |
Het |
Lrrc43 |
G |
A |
5: 123,639,275 (GRCm39) |
D435N |
possibly damaging |
Het |
Ly75 |
A |
T |
2: 60,188,851 (GRCm39) |
S292T |
probably damaging |
Het |
Mchr1 |
G |
A |
15: 81,121,480 (GRCm39) |
V77I |
probably benign |
Het |
Mga |
T |
A |
2: 119,794,535 (GRCm39) |
C2622S |
possibly damaging |
Het |
Neb |
G |
T |
2: 52,186,266 (GRCm39) |
Y935* |
probably null |
Het |
Nt5el |
T |
A |
13: 105,218,808 (GRCm39) |
D47E |
probably damaging |
Het |
Phf20 |
A |
G |
2: 156,136,017 (GRCm39) |
E612G |
possibly damaging |
Het |
Pkhd1 |
A |
G |
1: 20,271,007 (GRCm39) |
L3182P |
probably benign |
Het |
Rnf130 |
T |
C |
11: 49,986,667 (GRCm39) |
V337A |
probably benign |
Het |
Slfn10-ps |
T |
C |
11: 82,923,117 (GRCm39) |
|
noncoding transcript |
Het |
Sorcs1 |
G |
A |
19: 50,322,036 (GRCm39) |
P249L |
probably damaging |
Het |
Spata13 |
C |
T |
14: 60,928,723 (GRCm39) |
R94C |
probably damaging |
Het |
Stk38 |
C |
T |
17: 29,210,390 (GRCm39) |
R63Q |
probably benign |
Het |
Tmem220 |
C |
A |
11: 66,925,014 (GRCm39) |
H174N |
probably benign |
Het |
Tmem68 |
C |
A |
4: 3,560,536 (GRCm39) |
R216L |
probably damaging |
Het |
Trim29 |
G |
A |
9: 43,222,599 (GRCm39) |
V143M |
probably benign |
Het |
Ubqln2 |
T |
C |
X: 152,282,906 (GRCm39) |
L486P |
possibly damaging |
Het |
Usp17le |
G |
A |
7: 104,417,982 (GRCm39) |
Q387* |
probably null |
Het |
Vps33b |
A |
G |
7: 79,937,587 (GRCm39) |
E445G |
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 |
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 |
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 |
2015-04-16 |