Incidental Mutation 'R5481:Dgkq'
ID |
457929 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dgkq
|
Ensembl Gene |
ENSMUSG00000004815 |
Gene Name |
diacylglycerol kinase, theta |
Synonyms |
Dagk4, Dgk theta, 110kDa, DAGK7, Dgkd |
MMRRC Submission |
043042-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5481 (G1)
|
Quality Score |
212 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
108794910-108808696 bp(-) (GRCm39) |
Type of Mutation |
splice site (4780 bp from exon) |
DNA Base Change (assembly) |
A to G
at 108796676 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143596
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053913]
[ENSMUST00000063272]
[ENSMUST00000078323]
[ENSMUST00000120327]
[ENSMUST00000132179]
[ENSMUST00000132708]
[ENSMUST00000153238]
[ENSMUST00000146207]
|
AlphaFold |
Q6P5E8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053913
AA Change: V902A
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000057859 Gene: ENSMUSG00000004815 AA Change: V902A
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 null
Transcript: ENSMUST00000063272
|
SMART Domains |
Protein: ENSMUSP00000068607 Gene: ENSMUSG00000013495
Domain | Start | End | E-Value | Type |
Pfam:DUF1211
|
31 |
121 |
7.3e-28 |
PFAM |
transmembrane domain
|
135 |
157 |
N/A |
INTRINSIC |
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
Pfam:DUF1211
|
256 |
353 |
4.4e-36 |
PFAM |
transmembrane domain
|
373 |
395 |
N/A |
INTRINSIC |
transmembrane domain
|
415 |
437 |
N/A |
INTRINSIC |
transmembrane domain
|
450 |
472 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000078323
|
SMART Domains |
Protein: ENSMUSP00000077437 Gene: ENSMUSG00000013495
Domain | Start | End | E-Value | Type |
Pfam:DUF1211
|
31 |
121 |
7.3e-28 |
PFAM |
transmembrane domain
|
135 |
157 |
N/A |
INTRINSIC |
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
Pfam:DUF1211
|
256 |
353 |
4.4e-36 |
PFAM |
transmembrane domain
|
373 |
395 |
N/A |
INTRINSIC |
transmembrane domain
|
415 |
437 |
N/A |
INTRINSIC |
transmembrane domain
|
450 |
472 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000120327
|
SMART Domains |
Protein: ENSMUSP00000112780 Gene: ENSMUSG00000013495
Domain | Start | End | E-Value | Type |
Pfam:DUF1211
|
32 |
121 |
1.5e-22 |
PFAM |
transmembrane domain
|
135 |
157 |
N/A |
INTRINSIC |
transmembrane domain
|
195 |
217 |
N/A |
INTRINSIC |
Pfam:DUF1211
|
257 |
353 |
9.5e-27 |
PFAM |
transmembrane domain
|
373 |
395 |
N/A |
INTRINSIC |
transmembrane domain
|
415 |
437 |
N/A |
INTRINSIC |
transmembrane domain
|
450 |
472 |
N/A |
INTRINSIC |
|
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: ENSMUST00000145917
|
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: ENSMUST00000144624
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153365
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156964
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198346
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139169
|
Predicted Effect |
probably null
Transcript: ENSMUST00000146207
|
SMART Domains |
Protein: ENSMUSP00000143596 Gene: ENSMUSG00000013495
Domain | Start | End | E-Value | Type |
Pfam:DUF1211
|
32 |
121 |
5.4e-23 |
PFAM |
transmembrane domain
|
137 |
159 |
N/A |
INTRINSIC |
transmembrane domain
|
185 |
207 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 95.1%
- 20x: 90.0%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522H14Rik |
A |
G |
4: 109,362,759 (GRCm39) |
S187P |
probably damaging |
Het |
Aass |
C |
A |
6: 23,113,475 (GRCm39) |
V282L |
probably benign |
Het |
Adh6a |
G |
T |
3: 138,031,719 (GRCm39) |
V204F |
probably damaging |
Het |
Adrm1b |
A |
G |
3: 92,336,658 (GRCm39) |
S15P |
possibly damaging |
Het |
Aspm |
A |
G |
1: 139,384,799 (GRCm39) |
K148E |
possibly damaging |
Het |
Atp12a |
A |
T |
14: 56,610,846 (GRCm39) |
D330V |
possibly damaging |
Het |
Barhl1 |
A |
G |
2: 28,805,352 (GRCm39) |
Y114H |
probably damaging |
Het |
BC106179 |
T |
A |
16: 23,042,918 (GRCm39) |
|
probably benign |
Het |
Cabin1 |
A |
G |
10: 75,570,900 (GRCm39) |
L792P |
probably benign |
Het |
Calcoco2 |
A |
G |
11: 95,998,369 (GRCm39) |
V18A |
probably damaging |
Het |
Chpf2 |
A |
T |
5: 24,794,340 (GRCm39) |
H170L |
probably damaging |
Het |
Chrna1 |
T |
A |
2: 73,397,270 (GRCm39) |
I340F |
possibly damaging |
Het |
Ckap5 |
A |
T |
2: 91,402,792 (GRCm39) |
I690F |
possibly damaging |
Het |
Col10a1 |
A |
G |
10: 34,271,660 (GRCm39) |
H544R |
probably benign |
Het |
Cyp2b19 |
A |
C |
7: 26,466,246 (GRCm39) |
T350P |
probably damaging |
Het |
Dnah1 |
A |
G |
14: 31,030,828 (GRCm39) |
V443A |
possibly damaging |
Het |
Erbb3 |
T |
C |
10: 128,408,349 (GRCm39) |
D855G |
probably damaging |
Het |
Fam3c |
T |
C |
6: 22,321,357 (GRCm39) |
D138G |
probably benign |
Het |
Fen1 |
A |
G |
19: 10,178,022 (GRCm39) |
C141R |
probably damaging |
Het |
Flnc |
G |
A |
6: 29,441,216 (GRCm39) |
G390D |
probably damaging |
Het |
Fnip1 |
C |
A |
11: 54,393,470 (GRCm39) |
D635E |
probably benign |
Het |
Fry |
A |
T |
5: 150,183,784 (GRCm39) |
L17F |
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,810,230 (GRCm39) |
I2183T |
probably benign |
Het |
Gfpt1 |
T |
A |
6: 87,027,951 (GRCm39) |
I19N |
probably damaging |
Het |
Hus1b |
T |
C |
13: 31,130,942 (GRCm39) |
D239G |
probably benign |
Het |
Kif1a |
T |
C |
1: 92,987,966 (GRCm39) |
K546R |
probably benign |
Het |
Kmt2d |
A |
G |
15: 98,759,886 (GRCm39) |
V1124A |
unknown |
Het |
Krtap16-1 |
A |
G |
11: 99,876,153 (GRCm39) |
I417T |
probably damaging |
Het |
Manba |
A |
T |
3: 135,230,317 (GRCm39) |
N297Y |
possibly damaging |
Het |
Mblac1 |
A |
G |
5: 138,193,078 (GRCm39) |
D140G |
probably damaging |
Het |
Mlh1 |
T |
C |
9: 111,058,905 (GRCm39) |
|
probably null |
Het |
Morc1 |
T |
A |
16: 48,381,848 (GRCm39) |
|
probably null |
Het |
Morc3 |
C |
A |
16: 93,659,543 (GRCm39) |
P449Q |
probably damaging |
Het |
Mtr |
T |
C |
13: 12,203,041 (GRCm39) |
|
probably null |
Het |
Mylk |
T |
A |
16: 34,741,974 (GRCm39) |
C829S |
probably benign |
Het |
Myo1d |
A |
G |
11: 80,553,921 (GRCm39) |
I520T |
possibly damaging |
Het |
Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
Nos1 |
A |
T |
5: 118,005,819 (GRCm39) |
I180F |
probably benign |
Het |
Ntsr1 |
C |
T |
2: 180,183,313 (GRCm39) |
T341M |
possibly damaging |
Het |
Or8b51 |
A |
T |
9: 38,568,916 (GRCm39) |
F257L |
probably benign |
Het |
P2rx7 |
A |
G |
5: 122,818,883 (GRCm39) |
D435G |
possibly damaging |
Het |
Peli2 |
C |
A |
14: 48,490,090 (GRCm39) |
N136K |
probably damaging |
Het |
Pigt |
C |
A |
2: 164,348,342 (GRCm39) |
P429H |
probably damaging |
Het |
Pik3r2 |
T |
C |
8: 71,222,408 (GRCm39) |
I515V |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,422,042 (GRCm39) |
Y3104C |
probably damaging |
Het |
Ppp1r16a |
A |
C |
15: 76,575,221 (GRCm39) |
E43A |
probably damaging |
Het |
Ptpn18 |
T |
C |
1: 34,510,744 (GRCm39) |
L260P |
possibly damaging |
Het |
Scaf11 |
A |
T |
15: 96,318,498 (GRCm39) |
S355R |
probably damaging |
Het |
Sema4a |
A |
T |
3: 88,360,347 (GRCm39) |
Y77* |
probably null |
Het |
Serpinb9b |
T |
C |
13: 33,222,076 (GRCm39) |
V230A |
possibly damaging |
Het |
Sfswap |
T |
A |
5: 129,591,882 (GRCm39) |
S300T |
probably damaging |
Het |
Slc22a30 |
T |
C |
19: 8,314,201 (GRCm39) |
N495S |
probably benign |
Het |
Srcap |
G |
A |
7: 127,131,369 (GRCm39) |
G836D |
probably damaging |
Het |
Stard4 |
A |
C |
18: 33,338,298 (GRCm39) |
C137W |
probably benign |
Het |
Stat6 |
A |
G |
10: 127,483,695 (GRCm39) |
|
probably null |
Het |
Steap3 |
T |
C |
1: 120,169,454 (GRCm39) |
D243G |
probably benign |
Het |
Taf1c |
A |
G |
8: 120,325,979 (GRCm39) |
S628P |
probably damaging |
Het |
Unkl |
C |
T |
17: 25,420,146 (GRCm39) |
Q13* |
probably null |
Het |
Usp38 |
A |
G |
8: 81,719,952 (GRCm39) |
S426P |
possibly damaging |
Het |
Vmn2r8 |
T |
C |
5: 108,949,636 (GRCm39) |
T404A |
probably benign |
Het |
Washc1 |
T |
C |
17: 66,425,860 (GRCm39) |
V425A |
probably benign |
Het |
Zfyve9 |
A |
G |
4: 108,501,546 (GRCm39) |
I590T |
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 |
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 |
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 |
|
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'- TAAGTCCATCTGCTGGCCAG -3'
(R):5'- AACGTTTGACTTTCTGGGACTC -3'
Sequencing Primer
(F):5'- AGCCAGTGTGTGACCAAC -3'
(R):5'- CCTGGTGAGAGCCTCAGAGAG -3'
|
Posted On |
2017-02-16 |