Incidental Mutation 'R8739:Dgkb'
| ID |
682574 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkb
|
| Ensembl Gene |
ENSMUSG00000036095 |
| Gene Name |
diacylglycerol kinase, beta |
| Synonyms |
C630029D13Rik, DGK-beta |
| MMRRC Submission |
068586-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R8739 (G1)
|
| Quality Score |
161.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
37930169-38684238 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 38278323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040500]
[ENSMUST00000220990]
|
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (59/59) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
T |
C |
8: 41,133,480 (GRCm39) |
V316A |
possibly damaging |
Het |
| Adamts9 |
T |
C |
6: 92,831,261 (GRCm39) |
E1364G |
probably benign |
Het |
| Agrn |
C |
T |
4: 156,257,045 (GRCm39) |
R1233Q |
probably benign |
Het |
| Ankrd6 |
A |
G |
4: 32,806,337 (GRCm39) |
S639P |
possibly damaging |
Het |
| Arid5a |
A |
G |
1: 36,358,677 (GRCm39) |
N418S |
probably benign |
Het |
| Cep152 |
T |
C |
2: 125,461,975 (GRCm39) |
E69G |
probably benign |
Het |
| Chrnb2 |
A |
G |
3: 89,669,746 (GRCm39) |
S109P |
probably damaging |
Het |
| Chuk |
A |
G |
19: 44,077,135 (GRCm39) |
S404P |
probably benign |
Het |
| Clec4a3 |
T |
C |
6: 122,944,508 (GRCm39) |
Y185H |
probably damaging |
Het |
| Dctd |
T |
A |
8: 48,591,883 (GRCm39) |
L149H |
probably benign |
Het |
| Dhrs13 |
G |
C |
11: 77,923,492 (GRCm39) |
R70P |
possibly damaging |
Het |
| Dnah5 |
G |
A |
15: 28,346,006 (GRCm39) |
A2449T |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,581,014 (GRCm39) |
V247A |
probably damaging |
Het |
| Eef1ece2 |
G |
A |
16: 20,449,665 (GRCm39) |
|
probably benign |
Het |
| Espnl |
T |
A |
1: 91,272,317 (GRCm39) |
L559Q |
probably damaging |
Het |
| Gak |
A |
G |
5: 108,739,604 (GRCm39) |
V627A |
possibly damaging |
Het |
| Gcnt1 |
A |
T |
19: 17,307,437 (GRCm39) |
M96K |
probably benign |
Het |
| Ggta1 |
T |
C |
2: 35,292,572 (GRCm39) |
D245G |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,046,371 (GRCm39) |
F505Y |
probably damaging |
Het |
| Inpp4a |
A |
G |
1: 37,422,207 (GRCm39) |
|
probably benign |
Het |
| Kcnj14 |
C |
G |
7: 45,468,812 (GRCm39) |
R231P |
probably damaging |
Het |
| Lamc2 |
A |
T |
1: 153,020,399 (GRCm39) |
C382* |
probably null |
Het |
| Marveld3 |
T |
C |
8: 110,688,609 (GRCm39) |
E44G |
possibly damaging |
Het |
| Mettl17 |
T |
C |
14: 52,128,848 (GRCm39) |
F373L |
possibly damaging |
Het |
| Morc3 |
T |
A |
16: 93,657,398 (GRCm39) |
L374Q |
probably damaging |
Het |
| Muc16 |
C |
T |
9: 18,548,594 (GRCm39) |
D5900N |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,368,088 (GRCm39) |
N283D |
probably benign |
Het |
| Ncapg2 |
T |
G |
12: 116,379,098 (GRCm39) |
D197E |
possibly damaging |
Het |
| Nipbl |
T |
C |
15: 8,332,904 (GRCm39) |
T2240A |
probably benign |
Het |
| Nrip1 |
A |
C |
16: 76,088,236 (GRCm39) |
V1107G |
possibly damaging |
Het |
| Or13a19 |
T |
C |
7: 139,902,647 (GRCm39) |
F12L |
probably damaging |
Het |
| Or4d5 |
G |
A |
9: 40,012,636 (GRCm39) |
T50I |
probably benign |
Het |
| Or4f52 |
C |
A |
2: 111,061,834 (GRCm39) |
M101I |
probably benign |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,549 (GRCm39) |
I293K |
probably damaging |
Het |
| Pcsk5 |
G |
T |
19: 17,432,138 (GRCm39) |
H1492Q |
probably benign |
Het |
| Pdcd4 |
T |
A |
19: 53,899,405 (GRCm39) |
Y131* |
probably null |
Het |
| Pdf |
T |
A |
8: 107,773,796 (GRCm39) |
M216L |
probably damaging |
Het |
| Pira13 |
A |
T |
7: 3,828,188 (GRCm39) |
S40T |
|
Het |
| Plch1 |
T |
C |
3: 63,778,106 (GRCm39) |
H17R |
possibly damaging |
Het |
| Prkdc |
T |
G |
16: 15,626,068 (GRCm39) |
S3365A |
probably benign |
Het |
| Rab3c |
T |
C |
13: 110,397,135 (GRCm39) |
T44A |
probably damaging |
Het |
| Rad17 |
T |
C |
13: 100,765,998 (GRCm39) |
T377A |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rnf215 |
T |
G |
11: 4,085,959 (GRCm39) |
|
probably null |
Het |
| Sec31b |
G |
A |
19: 44,507,620 (GRCm39) |
T808I |
probably benign |
Het |
| Selenbp1 |
A |
T |
3: 94,844,601 (GRCm39) |
D86V |
probably damaging |
Het |
| Smurf2 |
G |
T |
11: 106,743,322 (GRCm39) |
Y241* |
probably null |
Het |
| Spint1 |
T |
C |
2: 119,079,286 (GRCm39) |
V456A |
possibly damaging |
Het |
| Spmap2 |
G |
T |
10: 79,419,581 (GRCm39) |
N240K |
possibly damaging |
Het |
| Stx5a |
A |
T |
19: 8,725,924 (GRCm39) |
I175F |
probably damaging |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tfb1m |
T |
C |
17: 3,569,927 (GRCm39) |
E313G |
probably benign |
Het |
| Thrb |
A |
G |
14: 17,963,082 (GRCm38) |
D15G |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,165,555 (GRCm39) |
K1045R |
probably damaging |
Het |
| Tmx2 |
T |
C |
2: 84,505,745 (GRCm39) |
|
probably benign |
Het |
| Trabd |
T |
C |
15: 88,969,152 (GRCm39) |
I192T |
probably damaging |
Het |
| Try5 |
T |
A |
6: 41,288,637 (GRCm39) |
D194V |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,796,371 (GRCm39) |
N1263S |
probably benign |
Het |
| Ttll13 |
T |
C |
7: 79,902,923 (GRCm39) |
I197T |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,540,643 (GRCm39) |
|
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 |
|
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'- AATAACTACTTTTCCATTGGCGTGG -3'
(R):5'- GCCATATTATTAGGCAACAGAACAAGC -3'
Sequencing Primer
(F):5'- CCATTGGCGTGGTAAGATTTAC -3'
(R):5'- CAGAACAAGCATTTCTAGGGTG -3'
|
| Posted On |
2021-10-07 |
Incidental Mutation