Incidental Mutation 'R8744:Dgkb'
| ID |
663437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkb
|
| Ensembl Gene |
ENSMUSG00000036095 |
| Gene Name |
diacylglycerol kinase, beta |
| Synonyms |
C630029D13Rik, DGK-beta |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R8744 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
37930169-38684238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38488611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 659
(H659R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037900
(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: H659R
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: H659R
| 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: H659R
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.4%
|
| Validation Efficiency |
98% (64/65) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
C |
A |
11: 58,182,260 (GRCm39) |
|
probably null |
Het |
| Adam2 |
A |
G |
14: 66,272,165 (GRCm39) |
|
probably null |
Het |
| Akt2 |
A |
T |
7: 27,317,738 (GRCm39) |
D94V |
probably benign |
Het |
| Anapc7 |
C |
T |
5: 122,566,211 (GRCm39) |
S40L |
probably benign |
Het |
| Ash1l |
G |
T |
3: 88,965,890 (GRCm39) |
A2431S |
possibly damaging |
Het |
| Atoh1 |
A |
T |
6: 64,706,902 (GRCm39) |
Q199L |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,121,177 (GRCm39) |
C947R |
probably damaging |
Het |
| Ccdc50 |
G |
A |
16: 27,255,148 (GRCm39) |
V199I |
possibly damaging |
Het |
| Ccne1 |
A |
T |
7: 37,802,598 (GRCm39) |
C65S |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,436,791 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
| Cyp4a10 |
A |
G |
4: 115,386,667 (GRCm39) |
D438G |
probably benign |
Het |
| Dhx29 |
A |
G |
13: 113,089,418 (GRCm39) |
I730V |
possibly damaging |
Het |
| Dync2h1 |
G |
A |
9: 7,011,220 (GRCm39) |
Q3658* |
probably null |
Het |
| Eif2ak4 |
C |
A |
2: 118,261,474 (GRCm39) |
C671* |
probably null |
Het |
| Eif4g3 |
AGCGGCGGCGGCGGCGGC |
AGCGGCGGCGGCGGC |
4: 137,721,372 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,889,925 (GRCm39) |
H446R |
unknown |
Het |
| Epb41l2 |
C |
T |
10: 25,317,725 (GRCm39) |
L81F |
probably damaging |
Het |
| Ercc8 |
G |
A |
13: 108,320,307 (GRCm39) |
A298T |
probably benign |
Het |
| Fbxo10 |
T |
C |
4: 45,043,880 (GRCm39) |
M648V |
probably benign |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gnpda2 |
C |
T |
5: 69,735,459 (GRCm39) |
A211T |
probably damaging |
Het |
| Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
| Hormad1 |
T |
C |
3: 95,469,926 (GRCm39) |
Y58H |
possibly damaging |
Het |
| Igkv4-81 |
T |
C |
6: 68,968,046 (GRCm39) |
I18M |
possibly damaging |
Het |
| Itgav |
G |
T |
2: 83,600,427 (GRCm39) |
A312S |
probably benign |
Het |
| Itpr1 |
G |
T |
6: 108,354,763 (GRCm39) |
A457S |
possibly damaging |
Het |
| Kcna10 |
T |
C |
3: 107,101,702 (GRCm39) |
L111P |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 63,012,433 (GRCm39) |
R92G |
possibly damaging |
Het |
| Lamc2 |
G |
A |
1: 153,019,484 (GRCm39) |
P486S |
probably benign |
Het |
| Lrba |
C |
T |
3: 86,211,640 (GRCm39) |
T420M |
probably benign |
Het |
| Lrrc52 |
G |
A |
1: 167,294,150 (GRCm39) |
T45M |
probably benign |
Het |
| Lsm8 |
C |
A |
6: 18,853,638 (GRCm39) |
A80E |
probably benign |
Het |
| Ly6g |
T |
A |
15: 75,027,518 (GRCm39) |
S9T |
probably benign |
Het |
| Mcc |
A |
G |
18: 44,857,639 (GRCm39) |
Y159H |
probably benign |
Het |
| Megf11 |
T |
C |
9: 64,451,970 (GRCm39) |
|
probably null |
Het |
| Mrpl9 |
T |
A |
3: 94,355,082 (GRCm39) |
|
probably benign |
Het |
| Ndst4 |
T |
C |
3: 125,506,989 (GRCm39) |
F210L |
possibly damaging |
Het |
| Or13l2 |
A |
G |
3: 97,317,597 (GRCm39) |
V300A |
probably benign |
Het |
| Or5d40 |
T |
A |
2: 88,015,723 (GRCm39) |
C167* |
probably null |
Het |
| Pappa2 |
A |
G |
1: 158,611,487 (GRCm39) |
V1492A |
possibly damaging |
Het |
| Pcdhga2 |
A |
G |
18: 37,804,373 (GRCm39) |
H739R |
probably benign |
Het |
| Pcdhga8 |
A |
G |
18: 37,860,827 (GRCm39) |
T628A |
probably damaging |
Het |
| Plekhn1 |
C |
T |
4: 156,318,364 (GRCm39) |
R86H |
probably damaging |
Het |
| Pofut1 |
T |
A |
2: 153,101,461 (GRCm39) |
W72R |
probably benign |
Het |
| Polr3b |
C |
A |
10: 84,464,488 (GRCm39) |
|
probably benign |
Het |
| Rab3b |
A |
T |
4: 108,781,184 (GRCm39) |
I104F |
probably damaging |
Het |
| Rab5b |
A |
T |
10: 128,518,751 (GRCm39) |
V127D |
probably damaging |
Het |
| Rnf170 |
A |
G |
8: 26,619,408 (GRCm39) |
M211V |
unknown |
Het |
| Rpl7 |
T |
C |
1: 16,172,113 (GRCm39) |
T218A |
probably benign |
Het |
| Serinc2 |
T |
C |
4: 130,158,988 (GRCm39) |
|
probably benign |
Het |
| Socs2 |
T |
A |
10: 95,228,662 (GRCm39) |
Q196L |
|
Het |
| Stab2 |
T |
C |
10: 86,805,213 (GRCm39) |
H255R |
probably benign |
Het |
| Syvn1 |
G |
A |
19: 6,099,198 (GRCm39) |
G149D |
probably damaging |
Het |
| Them5 |
T |
C |
3: 94,253,472 (GRCm39) |
S161P |
probably damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,873 (GRCm39) |
Y235N |
possibly damaging |
Het |
| Toporsl |
T |
C |
4: 52,611,967 (GRCm39) |
L620P |
probably benign |
Het |
| Traf3 |
A |
T |
12: 111,228,230 (GRCm39) |
E480D |
probably benign |
Het |
| Trav13n-4 |
A |
G |
14: 53,601,399 (GRCm39) |
Y56C |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,524,642 (GRCm39) |
Y1096C |
probably damaging |
Het |
| Usp2 |
A |
G |
9: 43,998,510 (GRCm39) |
|
probably benign |
Het |
| Usp40 |
A |
T |
1: 87,911,491 (GRCm39) |
L512Q |
probably benign |
Het |
| Vmn1r175 |
T |
C |
7: 23,508,403 (GRCm39) |
T75A |
probably benign |
Het |
| Zan |
A |
G |
5: 137,426,126 (GRCm39) |
V2550A |
unknown |
Het |
| Zfp235 |
A |
T |
7: 23,839,924 (GRCm39) |
E114D |
possibly damaging |
Het |
| Zmym1 |
A |
T |
4: 126,945,165 (GRCm39) |
D141E |
probably damaging |
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 |
|
|
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'- CTCTCTCCGAAATGTTTCCTATAGAG -3'
(R):5'- TTCCAGGTAGCCTTTGGAAC -3'
Sequencing Primer
(F):5'- CATTGGTGATGTGGTATGACAG -3'
(R):5'- CATCTGTGAGAGTGGGTCT -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation