Incidental Mutation 'R7540:Dgkb'
| ID |
583856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkb
|
| Ensembl Gene |
ENSMUSG00000036095 |
| Gene Name |
diacylglycerol kinase, beta |
| Synonyms |
C630029D13Rik, DGK-beta |
| MMRRC Submission |
045612-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R7540 (G1)
|
| Quality Score |
162.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
37930169-38684238 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
A to T
at 38031789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152460
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040500]
[ENSMUST00000220990]
[ENSMUST00000221176]
[ENSMUST00000222337]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040500
|
| SMART Domains |
Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
| 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 benign
Transcript: ENSMUST00000220990
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221176
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222337
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (48/49) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
T |
C |
7: 103,708,470 (GRCm39) |
E113G |
probably damaging |
Het |
| Adamts8 |
A |
G |
9: 30,870,360 (GRCm39) |
E650G |
probably damaging |
Het |
| Adgrg7 |
G |
A |
16: 56,570,792 (GRCm39) |
T412M |
probably damaging |
Het |
| Ank2 |
C |
T |
3: 126,781,808 (GRCm39) |
V7I |
possibly damaging |
Het |
| Bpifb1 |
G |
A |
2: 154,055,031 (GRCm39) |
V308M |
probably damaging |
Het |
| C3 |
A |
G |
17: 57,513,220 (GRCm39) |
S1476P |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,359,655 (GRCm39) |
|
probably null |
Het |
| Foxb1 |
G |
A |
9: 69,667,141 (GRCm39) |
Q130* |
probably null |
Het |
| Gemin5 |
C |
T |
11: 58,021,228 (GRCm39) |
|
probably null |
Het |
| Ghr |
T |
A |
15: 3,349,396 (GRCm39) |
D594V |
possibly damaging |
Het |
| Gm10272 |
A |
C |
10: 77,542,460 (GRCm39) |
M1L |
unknown |
Het |
| Gpr161 |
G |
A |
1: 165,146,404 (GRCm39) |
V447M |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,268,751 (GRCm39) |
S2157T |
possibly damaging |
Het |
| Irs1 |
A |
G |
1: 82,265,723 (GRCm39) |
V831A |
not run |
Het |
| Itga8 |
T |
A |
2: 12,115,848 (GRCm39) |
I1014L |
possibly damaging |
Het |
| Iws1 |
T |
A |
18: 32,213,536 (GRCm39) |
S321R |
possibly damaging |
Het |
| Kctd19 |
G |
T |
8: 106,113,567 (GRCm39) |
P702Q |
probably benign |
Het |
| Man2c1 |
G |
A |
9: 57,047,559 (GRCm39) |
D739N |
probably damaging |
Het |
| Mboat4 |
T |
A |
8: 34,591,178 (GRCm39) |
L205Q |
probably damaging |
Het |
| Meis3 |
C |
A |
7: 15,911,418 (GRCm39) |
Y38* |
probably null |
Het |
| Mroh7 |
G |
T |
4: 106,577,595 (GRCm39) |
T361K |
possibly damaging |
Het |
| Msantd5f2 |
C |
T |
4: 73,586,648 (GRCm39) |
|
probably benign |
Het |
| Myl6b |
T |
A |
10: 128,332,149 (GRCm39) |
K106* |
probably null |
Het |
| Naaa |
T |
A |
5: 92,411,583 (GRCm39) |
T241S |
probably benign |
Het |
| Neurog3 |
T |
G |
10: 61,969,756 (GRCm39) |
I172S |
probably benign |
Het |
| Nub1 |
T |
G |
5: 24,906,527 (GRCm39) |
I351R |
probably damaging |
Het |
| Or2t47 |
C |
A |
11: 58,442,457 (GRCm39) |
V203L |
possibly damaging |
Het |
| Or3a1c |
A |
T |
11: 74,046,414 (GRCm39) |
R145W |
probably benign |
Het |
| Or6c207 |
A |
T |
10: 129,105,003 (GRCm39) |
F63Y |
probably benign |
Het |
| Osbp2 |
T |
C |
11: 3,667,944 (GRCm39) |
K18E |
probably damaging |
Het |
| Pcdh8 |
A |
T |
14: 80,008,543 (GRCm39) |
W7R |
probably benign |
Het |
| Pcsk7 |
G |
T |
9: 45,838,971 (GRCm39) |
|
probably null |
Het |
| Plin4 |
G |
A |
17: 56,411,883 (GRCm39) |
T716I |
probably damaging |
Het |
| Prkcb |
G |
A |
7: 122,167,357 (GRCm39) |
V356I |
probably damaging |
Het |
| Pus7 |
G |
A |
5: 23,965,244 (GRCm39) |
T304I |
probably damaging |
Het |
| Rmnd1 |
A |
G |
10: 4,353,989 (GRCm39) |
V402A |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,181,346 (GRCm39) |
E329G |
probably damaging |
Het |
| Sytl3 |
T |
C |
17: 6,949,346 (GRCm39) |
|
probably benign |
Het |
| Tg |
A |
G |
15: 66,561,776 (GRCm39) |
I1087V |
probably benign |
Het |
| Tmco1 |
A |
G |
1: 167,153,572 (GRCm39) |
T162A |
|
Het |
| Tti1 |
G |
A |
2: 157,849,916 (GRCm39) |
T441I |
probably benign |
Het |
| Tubgcp6 |
G |
T |
15: 88,986,526 (GRCm39) |
Q1366K |
possibly damaging |
Het |
| Ush1g |
T |
C |
11: 115,209,399 (GRCm39) |
K265R |
probably benign |
Het |
| Zdhhc8 |
A |
G |
16: 18,045,674 (GRCm39) |
V209A |
probably damaging |
Het |
| Zfp160 |
T |
A |
17: 21,245,922 (GRCm39) |
Y157* |
probably null |
Het |
| Zfp423 |
A |
T |
8: 88,414,695 (GRCm39) |
C1208S |
possibly damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,315,450 (GRCm39) |
V1342E |
probably damaging |
Het |
| Zmym1 |
A |
T |
4: 126,942,550 (GRCm39) |
C613S |
probably benign |
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 |
|
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 |
|
R8943:Dgkb
|
UTSW |
12 |
38,652,777 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- ACTTGCATGCAACACCATTAG -3'
(R):5'- TTGGGAAAATTCTGAGGGGC -3'
Sequencing Primer
(F):5'- TGCATGCAACACCATTAGAAATCTAG -3'
(R):5'- GCTGAGATGGGCCCATTTTTCC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation