Incidental Mutation 'R6947:Dgka'
| ID |
540933 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgka
|
| Ensembl Gene |
ENSMUSG00000025357 |
| Gene Name |
diacylglycerol kinase, alpha |
| Synonyms |
Dagk1 |
| MMRRC Submission |
045060-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.366)
|
| Stock # |
R6947 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
128556003-128580724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 128568884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 227
(I227N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026414]
[ENSMUST00000219834]
|
| AlphaFold |
O88673 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026414
AA Change: I227N
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000026414
Gene: ENSMUSG00000025357
AA Change: I227N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAG_kinase_N
|
4 |
93 |
6.9e-31 |
PFAM |
|
EFh
|
115 |
143 |
3.82e0 |
SMART |
|
EFh
|
160 |
188 |
1.29e-4 |
SMART |
|
C1
|
207 |
254 |
2.29e-10 |
SMART |
|
C1
|
269 |
320 |
6.91e-5 |
SMART |
|
DAGKc
|
372 |
495 |
3.11e-62 |
SMART |
|
DAGKa
|
515 |
696 |
4.1e-103 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219834
AA Change: I227N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.0%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It acts as a modulator that competes with protein kinase C for the second messenger diacylglycerol in intracellular signaling pathways. It also plays an important role in the resynthesis of phosphatidylinositols and phosphorylating diacylglycerol to phosphatidic acid. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in impaired induction of T cell anergy. T cells stimulated in anergy producing conditions show increased proliferation and interleukin 2 production. Mice homozygous for a transgenic gene disruption exhibit male infertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
C |
A |
9: 90,073,857 (GRCm39) |
|
probably null |
Het |
| Adcy4 |
T |
C |
14: 56,015,848 (GRCm39) |
T414A |
possibly damaging |
Het |
| Bop1 |
A |
G |
15: 76,338,188 (GRCm39) |
F561L |
probably damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,309,401 (GRCm39) |
V332A |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,365,918 (GRCm39) |
T1042A |
probably damaging |
Het |
| Cnot8 |
G |
T |
11: 58,008,331 (GRCm39) |
V266L |
probably benign |
Het |
| Cxxc4 |
C |
T |
3: 133,946,277 (GRCm39) |
S286F |
possibly damaging |
Het |
| Cyp2d12 |
A |
T |
15: 82,443,248 (GRCm39) |
I386L |
probably benign |
Het |
| Eif2d |
T |
C |
1: 131,092,404 (GRCm39) |
V354A |
probably benign |
Het |
| Fgr |
T |
A |
4: 132,722,380 (GRCm39) |
|
probably null |
Het |
| Idnk |
A |
G |
13: 58,308,055 (GRCm39) |
|
probably null |
Het |
| Kmt2e |
T |
C |
5: 23,702,543 (GRCm39) |
S952P |
probably damaging |
Het |
| Kng1 |
A |
G |
16: 22,896,124 (GRCm39) |
H343R |
probably benign |
Het |
| Lgals8 |
G |
A |
13: 12,469,682 (GRCm39) |
|
probably benign |
Het |
| Lrit3 |
T |
A |
3: 129,582,883 (GRCm39) |
Q368L |
probably benign |
Het |
| Lypd8 |
A |
T |
11: 58,273,592 (GRCm39) |
T24S |
probably benign |
Het |
| Map3k4 |
G |
A |
17: 12,479,456 (GRCm39) |
Q704* |
probably null |
Het |
| Mcm3ap |
A |
G |
10: 76,351,500 (GRCm39) |
I1948V |
probably benign |
Het |
| Mettl25 |
A |
G |
10: 105,662,053 (GRCm39) |
F306L |
probably benign |
Het |
| Mos |
A |
C |
4: 3,871,585 (GRCm39) |
V77G |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,596,177 (GRCm39) |
R3130C |
possibly damaging |
Het |
| Naxd |
T |
C |
8: 11,552,757 (GRCm39) |
V59A |
probably damaging |
Het |
| Nup107 |
A |
G |
10: 117,593,179 (GRCm39) |
V833A |
probably benign |
Het |
| Or1p4-ps1 |
C |
T |
11: 74,208,370 (GRCm39) |
S173L |
unknown |
Het |
| Or5m10b |
T |
C |
2: 85,699,271 (GRCm39) |
F112L |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,577,021 (GRCm39) |
|
probably null |
Het |
| Pde10a |
T |
A |
17: 9,188,424 (GRCm39) |
I908N |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,228,075 (GRCm39) |
K1058R |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,759,383 (GRCm39) |
F548Y |
probably damaging |
Het |
| Rad54b |
T |
G |
4: 11,569,859 (GRCm39) |
S58R |
possibly damaging |
Het |
| Rbm20 |
G |
A |
19: 53,839,696 (GRCm39) |
G895D |
probably damaging |
Het |
| Rgs22 |
T |
C |
15: 36,104,036 (GRCm39) |
|
probably null |
Het |
| Rhobtb3 |
A |
G |
13: 76,058,785 (GRCm39) |
S338P |
probably benign |
Het |
| Ruvbl2 |
A |
G |
7: 45,074,373 (GRCm39) |
|
probably null |
Het |
| Slc16a12 |
A |
G |
19: 34,650,007 (GRCm39) |
F343L |
probably benign |
Het |
| Slc22a28 |
A |
G |
19: 8,041,875 (GRCm39) |
L444P |
possibly damaging |
Het |
| Slc44a4 |
A |
T |
17: 35,147,044 (GRCm39) |
Q358L |
probably null |
Het |
| Sowaha |
A |
G |
11: 53,369,225 (GRCm39) |
F504L |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,125,789 (GRCm39) |
L6035P |
probably damaging |
Het |
| Thbs2 |
A |
T |
17: 14,910,029 (GRCm39) |
M190K |
possibly damaging |
Het |
| Tmem171 |
A |
G |
13: 98,824,950 (GRCm39) |
F227L |
possibly damaging |
Het |
| Trp53 |
A |
G |
11: 69,479,307 (GRCm39) |
K162E |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,724,732 (GRCm39) |
K2098* |
probably null |
Het |
| Usp30 |
T |
C |
5: 114,241,821 (GRCm39) |
S88P |
probably benign |
Het |
| Zfp276 |
C |
A |
8: 123,981,643 (GRCm39) |
D63E |
probably benign |
Het |
|
| Other mutations in Dgka |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Dgka
|
APN |
10 |
128,568,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02479:Dgka
|
APN |
10 |
128,566,115 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02727:Dgka
|
APN |
10 |
128,558,317 (GRCm39) |
splice site |
probably benign |
|
|
IGL02817:Dgka
|
APN |
10 |
128,566,097 (GRCm39) |
missense |
probably benign |
|
|
IGL02882:Dgka
|
APN |
10 |
128,569,253 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL03239:Dgka
|
APN |
10 |
128,557,254 (GRCm39) |
splice site |
probably benign |
|
|
Caps
|
UTSW |
10 |
128,566,071 (GRCm39) |
nonsense |
probably null |
|
|
Greenie
|
UTSW |
10 |
128,568,962 (GRCm39) |
missense |
probably benign |
0.03 |
|
Hangup
|
UTSW |
10 |
128,556,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Stickem
|
UTSW |
10 |
128,559,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0321:Dgka
|
UTSW |
10 |
128,556,952 (GRCm39) |
splice site |
probably benign |
|
|
R0374:Dgka
|
UTSW |
10 |
128,556,952 (GRCm39) |
splice site |
probably benign |
|
|
R0482:Dgka
|
UTSW |
10 |
128,569,990 (GRCm39) |
nonsense |
probably null |
|
|
R0494:Dgka
|
UTSW |
10 |
128,556,952 (GRCm39) |
splice site |
probably benign |
|
|
R0573:Dgka
|
UTSW |
10 |
128,572,876 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0594:Dgka
|
UTSW |
10 |
128,568,979 (GRCm39) |
splice site |
probably benign |
|
|
R0607:Dgka
|
UTSW |
10 |
128,556,338 (GRCm39) |
splice site |
probably null |
|
|
R0618:Dgka
|
UTSW |
10 |
128,556,952 (GRCm39) |
splice site |
probably benign |
|
|
R0691:Dgka
|
UTSW |
10 |
128,559,129 (GRCm39) |
splice site |
probably benign |
|
|
R1378:Dgka
|
UTSW |
10 |
128,571,696 (GRCm39) |
splice site |
probably null |
|
|
R1424:Dgka
|
UTSW |
10 |
128,569,202 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1955:Dgka
|
UTSW |
10 |
128,566,058 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1972:Dgka
|
UTSW |
10 |
128,556,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1998:Dgka
|
UTSW |
10 |
128,565,808 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2046:Dgka
|
UTSW |
10 |
128,559,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4206:Dgka
|
UTSW |
10 |
128,557,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4418:Dgka
|
UTSW |
10 |
128,563,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4752:Dgka
|
UTSW |
10 |
128,572,528 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5092:Dgka
|
UTSW |
10 |
128,571,702 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5479:Dgka
|
UTSW |
10 |
128,565,541 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6009:Dgka
|
UTSW |
10 |
128,559,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6273:Dgka
|
UTSW |
10 |
128,559,515 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6852:Dgka
|
UTSW |
10 |
128,558,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6973:Dgka
|
UTSW |
10 |
128,565,463 (GRCm39) |
splice site |
probably null |
|
|
R7024:Dgka
|
UTSW |
10 |
128,556,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7076:Dgka
|
UTSW |
10 |
128,569,452 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7290:Dgka
|
UTSW |
10 |
128,569,468 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7397:Dgka
|
UTSW |
10 |
128,556,594 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7823:Dgka
|
UTSW |
10 |
128,572,135 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7856:Dgka
|
UTSW |
10 |
128,572,533 (GRCm39) |
missense |
probably benign |
|
|
R8118:Dgka
|
UTSW |
10 |
128,558,318 (GRCm39) |
splice site |
probably null |
|
|
R8360:Dgka
|
UTSW |
10 |
128,563,997 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8374:Dgka
|
UTSW |
10 |
128,557,112 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8547:Dgka
|
UTSW |
10 |
128,556,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8686:Dgka
|
UTSW |
10 |
128,568,962 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9013:Dgka
|
UTSW |
10 |
128,566,071 (GRCm39) |
nonsense |
probably null |
|
|
R9307:Dgka
|
UTSW |
10 |
128,567,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9336:Dgka
|
UTSW |
10 |
128,566,935 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9423:Dgka
|
UTSW |
10 |
128,557,055 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0020:Dgka
|
UTSW |
10 |
128,557,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dgka
|
UTSW |
10 |
128,556,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Dgka
|
UTSW |
10 |
128,567,034 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATAGGCTTGGGCTTTAGCAC -3'
(R):5'- GTGGCTCTGTGTCTCTAGAC -3'
Sequencing Primer
(F):5'- gccccaaaatccaaatcc -3'
(R):5'- TCTCTAGACGAGTGGGTCC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation