Incidental Mutation 'R8943:Dgkb'
ID |
681114 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dgkb
|
Ensembl Gene |
ENSMUSG00000036095 |
Gene Name |
diacylglycerol kinase, beta |
Synonyms |
C630029D13Rik, DGK-beta |
MMRRC Submission |
068782-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.130)
|
Stock # |
R8943 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
37930169-38684238 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 38652777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 721
(Y721N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152378
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040500]
[ENSMUST00000220990]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040500
AA Change: Y721N
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000037900 Gene: ENSMUSG00000036095 AA Change: Y721N
Domain | Start | End | E-Value | Type |
Pfam:DAG_kinase_N
|
6 |
141 |
1.4e-49 |
PFAM |
EFh
|
145 |
173 |
1.82e-4 |
SMART |
EFh
|
190 |
218 |
1.18e-3 |
SMART |
C1
|
235 |
286 |
7.11e-16 |
SMART |
C1
|
302 |
350 |
9.25e-6 |
SMART |
DAGKc
|
429 |
553 |
2.58e-68 |
SMART |
DAGKa
|
573 |
753 |
8.02e-106 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220990
AA Change: Y721N
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
98% (50/51) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key role in cellular processes. Nine mammalian isotypes have been identified, which are encoded by separate genes. Mammalian DGK isozymes contain a conserved catalytic (kinase) domain and a cysteine-rich domain (CRD). The protein encoded by this gene is a diacylglycerol kinase, beta isotype. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a transposon distruption have defects in long term potentiation, synapase morphology, and in spatial reference and working memory. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
T |
C |
7: 41,275,667 (GRCm39) |
S457P |
probably damaging |
Het |
Aak1 |
A |
G |
6: 86,964,234 (GRCm39) |
N945S |
unknown |
Het |
Actr1a |
C |
A |
19: 46,369,438 (GRCm39) |
R192L |
possibly damaging |
Het |
Adgrl2 |
T |
A |
3: 148,534,119 (GRCm39) |
N1036I |
probably damaging |
Het |
Ak5 |
A |
G |
3: 152,361,511 (GRCm39) |
V137A |
probably damaging |
Het |
Aldh1a2 |
T |
C |
9: 71,169,055 (GRCm39) |
V179A |
probably damaging |
Het |
Ap2b1 |
A |
T |
11: 83,237,579 (GRCm39) |
I548F |
probably damaging |
Het |
Arhgef10l |
A |
G |
4: 140,292,550 (GRCm39) |
Y352H |
probably damaging |
Het |
Atad5 |
C |
T |
11: 79,986,524 (GRCm39) |
T537M |
possibly damaging |
Het |
Atoh7 |
A |
G |
10: 62,935,938 (GRCm39) |
K2E |
possibly damaging |
Het |
BC061237 |
A |
G |
14: 44,741,658 (GRCm39) |
I134V |
probably benign |
Het |
Cadm1 |
T |
C |
9: 47,701,136 (GRCm39) |
I141T |
probably damaging |
Het |
Capn10 |
T |
C |
1: 92,871,454 (GRCm39) |
S351P |
probably damaging |
Het |
Cct6b |
T |
C |
11: 82,654,959 (GRCm39) |
|
probably benign |
Het |
Cd19 |
T |
C |
7: 126,011,330 (GRCm39) |
T284A |
probably benign |
Het |
Cfap53 |
A |
G |
18: 74,432,253 (GRCm39) |
Y47C |
probably damaging |
Het |
Cldn18 |
T |
C |
9: 99,578,162 (GRCm39) |
M194V |
probably benign |
Het |
Dmbt1 |
A |
G |
7: 130,721,372 (GRCm39) |
Q1880R |
possibly damaging |
Het |
Dock2 |
T |
C |
11: 34,599,646 (GRCm39) |
N311S |
possibly damaging |
Het |
Dpysl5 |
G |
T |
5: 30,935,375 (GRCm39) |
M159I |
probably benign |
Het |
Eif2b3 |
G |
A |
4: 116,901,778 (GRCm39) |
G147E |
probably damaging |
Het |
Fam193a |
A |
G |
5: 34,597,796 (GRCm39) |
D531G |
probably benign |
Het |
Fndc3b |
T |
C |
3: 27,555,329 (GRCm39) |
|
probably benign |
Het |
Foxe3 |
C |
A |
4: 114,782,523 (GRCm39) |
A230S |
unknown |
Het |
Gm5591 |
A |
T |
7: 38,219,727 (GRCm39) |
V382E |
probably benign |
Het |
Gm7995 |
A |
T |
14: 42,132,228 (GRCm39) |
N21I |
probably damaging |
Het |
Ipo8 |
G |
A |
6: 148,676,547 (GRCm39) |
P981S |
probably benign |
Het |
Kcnh8 |
A |
G |
17: 53,104,486 (GRCm39) |
D161G |
probably benign |
Het |
Krt71 |
A |
G |
15: 101,645,180 (GRCm39) |
I377T |
possibly damaging |
Het |
Krt75 |
A |
T |
15: 101,476,767 (GRCm39) |
M374K |
probably benign |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Lpcat1 |
A |
G |
13: 73,662,029 (GRCm39) |
T409A |
probably benign |
Het |
Lrch1 |
A |
T |
14: 75,032,808 (GRCm39) |
I514K |
probably benign |
Het |
Mc4r |
A |
C |
18: 66,993,110 (GRCm39) |
M1R |
probably null |
Het |
Mthfd1l |
A |
T |
10: 3,978,466 (GRCm39) |
H442L |
probably damaging |
Het |
Or5d38 |
T |
A |
2: 87,954,718 (GRCm39) |
I204F |
probably damaging |
Het |
Pdcd1lg2 |
T |
C |
19: 29,423,553 (GRCm39) |
M199T |
probably benign |
Het |
Pigg |
G |
A |
5: 108,484,066 (GRCm39) |
V438M |
probably damaging |
Het |
Pira12 |
T |
C |
7: 3,898,365 (GRCm39) |
E319G |
probably benign |
Het |
Ppfibp1 |
T |
A |
6: 146,920,681 (GRCm39) |
|
probably null |
Het |
Rbm15 |
T |
A |
3: 107,239,372 (GRCm39) |
Y342F |
possibly damaging |
Het |
Rhbdl1 |
A |
T |
17: 26,054,116 (GRCm39) |
V278E |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,465,669 (GRCm39) |
N4781S |
probably damaging |
Het |
Scn7a |
A |
T |
2: 66,525,206 (GRCm39) |
|
silent |
Het |
Sfswap |
A |
G |
5: 129,581,168 (GRCm39) |
R114G |
probably damaging |
Het |
Sohlh2 |
C |
A |
3: 55,104,282 (GRCm39) |
A258D |
possibly damaging |
Het |
Sstr4 |
T |
A |
2: 148,237,782 (GRCm39) |
V131D |
possibly damaging |
Het |
Tenm2 |
T |
C |
11: 36,834,861 (GRCm39) |
T45A |
probably damaging |
Het |
Tmem131l |
A |
T |
3: 83,831,479 (GRCm39) |
F818I |
probably damaging |
Het |
Trappc6b |
A |
G |
12: 59,097,149 (GRCm39) |
F58L |
probably damaging |
Het |
Vmn1r229 |
A |
T |
17: 21,035,418 (GRCm39) |
H221L |
possibly damaging |
Het |
Vmn1r33 |
T |
A |
6: 66,588,783 (GRCm39) |
Y257F |
probably damaging |
Het |
Wdfy3 |
T |
C |
5: 101,993,231 (GRCm39) |
|
probably benign |
Het |
Zfp446 |
C |
T |
7: 12,713,564 (GRCm39) |
Q177* |
probably null |
Het |
Zup1 |
A |
G |
10: 33,795,301 (GRCm39) |
*552Q |
probably null |
Het |
|
Other mutations in Dgkb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00754:Dgkb
|
APN |
12 |
38,488,567 (GRCm39) |
missense |
probably benign |
0.05 |
IGL00768:Dgkb
|
APN |
12 |
38,477,478 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00792:Dgkb
|
APN |
12 |
38,264,388 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00934:Dgkb
|
APN |
12 |
38,477,455 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00970:Dgkb
|
APN |
12 |
38,240,082 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01152:Dgkb
|
APN |
12 |
38,134,233 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01489:Dgkb
|
APN |
12 |
38,177,384 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01993:Dgkb
|
APN |
12 |
38,032,009 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02212:Dgkb
|
APN |
12 |
38,189,413 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02687:Dgkb
|
APN |
12 |
38,680,628 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02986:Dgkb
|
APN |
12 |
38,150,399 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL03155:Dgkb
|
APN |
12 |
38,189,458 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03174:Dgkb
|
APN |
12 |
38,266,053 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03198:Dgkb
|
APN |
12 |
38,186,615 (GRCm39) |
missense |
probably damaging |
0.97 |
R0063:Dgkb
|
UTSW |
12 |
38,654,112 (GRCm39) |
missense |
probably benign |
|
R0063:Dgkb
|
UTSW |
12 |
38,654,112 (GRCm39) |
missense |
probably benign |
|
R0078:Dgkb
|
UTSW |
12 |
38,186,540 (GRCm39) |
missense |
probably benign |
0.35 |
R0271:Dgkb
|
UTSW |
12 |
38,278,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R0359:Dgkb
|
UTSW |
12 |
38,266,030 (GRCm39) |
missense |
probably benign |
0.17 |
R0396:Dgkb
|
UTSW |
12 |
38,240,134 (GRCm39) |
critical splice donor site |
probably null |
|
R0547:Dgkb
|
UTSW |
12 |
38,654,157 (GRCm39) |
missense |
probably benign |
0.39 |
R0554:Dgkb
|
UTSW |
12 |
38,266,030 (GRCm39) |
missense |
probably benign |
0.17 |
R1903:Dgkb
|
UTSW |
12 |
38,216,776 (GRCm39) |
critical splice donor site |
probably null |
|
R2004:Dgkb
|
UTSW |
12 |
38,134,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R2265:Dgkb
|
UTSW |
12 |
38,240,107 (GRCm39) |
missense |
possibly damaging |
0.61 |
R2941:Dgkb
|
UTSW |
12 |
38,654,122 (GRCm39) |
missense |
possibly damaging |
0.96 |
R3177:Dgkb
|
UTSW |
12 |
38,134,216 (GRCm39) |
missense |
probably damaging |
0.98 |
R3277:Dgkb
|
UTSW |
12 |
38,134,216 (GRCm39) |
missense |
probably damaging |
0.98 |
R4319:Dgkb
|
UTSW |
12 |
38,488,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R4446:Dgkb
|
UTSW |
12 |
38,234,952 (GRCm39) |
missense |
probably damaging |
0.99 |
R4578:Dgkb
|
UTSW |
12 |
38,477,492 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4601:Dgkb
|
UTSW |
12 |
38,652,819 (GRCm39) |
missense |
probably damaging |
0.96 |
R4799:Dgkb
|
UTSW |
12 |
38,164,567 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4937:Dgkb
|
UTSW |
12 |
38,164,657 (GRCm39) |
nonsense |
probably null |
|
R5380:Dgkb
|
UTSW |
12 |
38,177,299 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5485:Dgkb
|
UTSW |
12 |
38,177,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R5556:Dgkb
|
UTSW |
12 |
38,177,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R6198:Dgkb
|
UTSW |
12 |
38,223,822 (GRCm39) |
missense |
probably benign |
|
R6467:Dgkb
|
UTSW |
12 |
38,654,104 (GRCm39) |
missense |
probably damaging |
1.00 |
R6467:Dgkb
|
UTSW |
12 |
38,134,223 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6792:Dgkb
|
UTSW |
12 |
38,150,424 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7056:Dgkb
|
UTSW |
12 |
38,150,492 (GRCm39) |
missense |
probably benign |
|
R7116:Dgkb
|
UTSW |
12 |
38,031,989 (GRCm39) |
missense |
probably benign |
0.00 |
R7251:Dgkb
|
UTSW |
12 |
38,031,985 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7265:Dgkb
|
UTSW |
12 |
38,234,931 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7268:Dgkb
|
UTSW |
12 |
38,197,554 (GRCm39) |
nonsense |
probably null |
|
R7342:Dgkb
|
UTSW |
12 |
38,150,432 (GRCm39) |
missense |
probably benign |
0.00 |
R7535:Dgkb
|
UTSW |
12 |
38,186,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R7540:Dgkb
|
UTSW |
12 |
38,031,789 (GRCm39) |
start gained |
probably benign |
|
R7584:Dgkb
|
UTSW |
12 |
38,189,391 (GRCm39) |
splice site |
probably null |
|
R7714:Dgkb
|
UTSW |
12 |
38,680,592 (GRCm39) |
missense |
probably damaging |
0.99 |
R7885:Dgkb
|
UTSW |
12 |
38,189,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R8012:Dgkb
|
UTSW |
12 |
38,189,485 (GRCm39) |
missense |
probably benign |
0.31 |
R8050:Dgkb
|
UTSW |
12 |
38,174,216 (GRCm39) |
missense |
probably benign |
0.38 |
R8089:Dgkb
|
UTSW |
12 |
38,234,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R8103:Dgkb
|
UTSW |
12 |
38,186,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R8400:Dgkb
|
UTSW |
12 |
38,652,837 (GRCm39) |
critical splice donor site |
probably null |
|
R8418:Dgkb
|
UTSW |
12 |
38,380,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R8473:Dgkb
|
UTSW |
12 |
38,234,939 (GRCm39) |
missense |
probably damaging |
0.99 |
R8739:Dgkb
|
UTSW |
12 |
38,278,323 (GRCm39) |
intron |
probably benign |
|
R8744:Dgkb
|
UTSW |
12 |
38,488,611 (GRCm39) |
missense |
probably damaging |
0.98 |
R8962:Dgkb
|
UTSW |
12 |
38,189,494 (GRCm39) |
critical splice donor site |
probably null |
|
R9182:Dgkb
|
UTSW |
12 |
38,216,776 (GRCm39) |
critical splice donor site |
probably null |
|
R9398:Dgkb
|
UTSW |
12 |
38,189,657 (GRCm39) |
missense |
probably damaging |
1.00 |
X0023:Dgkb
|
UTSW |
12 |
38,277,988 (GRCm39) |
missense |
probably benign |
0.00 |
X0027:Dgkb
|
UTSW |
12 |
38,278,124 (GRCm39) |
critical splice donor site |
probably null |
|
Z1176:Dgkb
|
UTSW |
12 |
38,186,612 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Dgkb
|
UTSW |
12 |
38,031,995 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTCCATAGAGCCCCAGAGATTAG -3'
(R):5'- TGATAGGAAGTAGCTGTTAAGACTG -3'
Sequencing Primer
(F):5'- GCCCCAGAGATTAGTTATACTAACTC -3'
(R):5'- GTCATGTCAAAGCACACT -3'
|
Posted On |
2021-08-31 |