Incidental Mutation 'R0359:Dgkb'
| ID |
30014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkb
|
| Ensembl Gene |
ENSMUSG00000036095 |
| Gene Name |
diacylglycerol kinase, beta |
| Synonyms |
C630029D13Rik, DGK-beta |
| MMRRC Submission |
038565-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R0359 (G1)
|
| Quality Score |
173 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
37930169-38684238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38266030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 503
(V503E)
|
| 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
AA Change: V503E
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: V503E
| 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
AA Change: V503E
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221540
|
| Meta Mutation Damage Score |
0.3753 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.3%
|
| Validation Efficiency |
100% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
A |
5: 144,982,181 (GRCm39) |
Y255* |
probably null |
Het |
| 2310003L06Rik |
A |
T |
5: 88,112,455 (GRCm39) |
|
probably benign |
Het |
| Abcb5 |
A |
G |
12: 118,904,067 (GRCm39) |
S213P |
probably damaging |
Het |
| Agpat1 |
A |
G |
17: 34,829,551 (GRCm39) |
I42V |
probably benign |
Het |
| Apoh |
A |
T |
11: 108,288,199 (GRCm39) |
I106F |
probably damaging |
Het |
| BB014433 |
G |
T |
8: 15,092,540 (GRCm39) |
C104* |
probably null |
Het |
| Bsn |
C |
T |
9: 107,989,045 (GRCm39) |
G2236S |
possibly damaging |
Het |
| Casp9 |
A |
G |
4: 141,521,221 (GRCm39) |
E19G |
probably damaging |
Het |
| Ces1g |
T |
C |
8: 94,055,163 (GRCm39) |
|
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,959,760 (GRCm39) |
M797L |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,271,264 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
G |
T |
4: 63,232,964 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
T |
A |
9: 105,874,345 (GRCm39) |
H2214L |
probably benign |
Het |
| Ctu2 |
T |
G |
8: 123,204,932 (GRCm39) |
S72R |
probably damaging |
Het |
| Cyp24a1 |
T |
A |
2: 170,333,619 (GRCm39) |
M245L |
possibly damaging |
Het |
| Diaph3 |
T |
C |
14: 87,206,938 (GRCm39) |
R501G |
probably benign |
Het |
| Dip2b |
A |
G |
15: 100,109,874 (GRCm39) |
D1453G |
probably damaging |
Het |
| Dnah2 |
G |
A |
11: 69,420,357 (GRCm39) |
T119M |
probably benign |
Het |
| F5 |
T |
G |
1: 164,007,018 (GRCm39) |
V274G |
probably damaging |
Het |
| Farp1 |
A |
T |
14: 121,492,808 (GRCm39) |
|
probably benign |
Het |
| Fcsk |
T |
C |
8: 111,619,891 (GRCm39) |
|
probably null |
Het |
| Foxf1 |
T |
C |
8: 121,811,742 (GRCm39) |
V202A |
possibly damaging |
Het |
| Fras1 |
G |
A |
5: 96,910,449 (GRCm39) |
V3293I |
probably damaging |
Het |
| Furin |
C |
T |
7: 80,041,032 (GRCm39) |
G602D |
probably damaging |
Het |
| Gclm |
T |
C |
3: 122,049,269 (GRCm39) |
|
probably benign |
Het |
| Gemin4 |
G |
A |
11: 76,102,988 (GRCm39) |
T591M |
probably benign |
Het |
| Glrx3 |
T |
C |
7: 137,055,214 (GRCm39) |
S119P |
possibly damaging |
Het |
| Gm16485 |
G |
T |
9: 8,972,437 (GRCm39) |
|
probably benign |
Het |
| Helq |
T |
C |
5: 100,938,066 (GRCm39) |
N460S |
probably benign |
Het |
| Hs6st1 |
G |
A |
1: 36,108,266 (GRCm39) |
|
probably null |
Het |
| Kpna2 |
A |
G |
11: 106,882,148 (GRCm39) |
L226S |
probably damaging |
Het |
| Myom3 |
G |
A |
4: 135,505,454 (GRCm39) |
V448M |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,536,580 (GRCm39) |
S1224P |
probably damaging |
Het |
| Or52n2 |
A |
T |
7: 104,542,521 (GRCm39) |
F105I |
probably damaging |
Het |
| Or56b1b |
C |
T |
7: 108,164,721 (GRCm39) |
D94N |
probably benign |
Het |
| Or7a38 |
A |
G |
10: 78,753,177 (GRCm39) |
T168A |
probably benign |
Het |
| Plag1 |
C |
T |
4: 3,904,546 (GRCm39) |
C215Y |
probably damaging |
Het |
| Plekha5 |
G |
A |
6: 140,537,473 (GRCm39) |
R646K |
possibly damaging |
Het |
| Pot1a |
G |
A |
6: 25,771,679 (GRCm39) |
|
probably benign |
Het |
| Ppfia1 |
T |
C |
7: 144,038,929 (GRCm39) |
D494G |
probably damaging |
Het |
| Ppp1r1a |
T |
A |
15: 103,441,915 (GRCm39) |
D51V |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 22,973,175 (GRCm39) |
|
probably benign |
Het |
| Rad51ap1 |
A |
T |
6: 126,911,704 (GRCm39) |
V61D |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,253,798 (GRCm39) |
L605F |
probably damaging |
Het |
| Riok3 |
T |
C |
18: 12,282,006 (GRCm39) |
I325T |
probably damaging |
Het |
| Sclt1 |
A |
T |
3: 41,616,005 (GRCm39) |
|
probably null |
Het |
| Slc25a39 |
A |
G |
11: 102,297,395 (GRCm39) |
V24A |
possibly damaging |
Het |
| Slc9a3 |
T |
G |
13: 74,305,726 (GRCm39) |
S248A |
probably damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,394,422 (GRCm39) |
C369S |
probably benign |
Het |
| Spen |
T |
C |
4: 141,244,181 (GRCm39) |
S285G |
unknown |
Het |
| Stxbp5l |
A |
G |
16: 37,036,440 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,352,030 (GRCm39) |
P1055L |
probably damaging |
Het |
| Tmed3 |
C |
T |
9: 89,581,842 (GRCm39) |
S207N |
possibly damaging |
Het |
| Trerf1 |
G |
T |
17: 47,652,062 (GRCm39) |
|
noncoding transcript |
Het |
| Triml1 |
A |
T |
8: 43,583,542 (GRCm39) |
V353E |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,549,401 (GRCm39) |
R31759C |
probably damaging |
Het |
| Ugt2b37 |
T |
C |
5: 87,398,443 (GRCm39) |
Q331R |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,588,048 (GRCm39) |
I420T |
probably damaging |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,201 (GRCm39) |
L299Q |
probably damaging |
Het |
| Vmn1r81 |
T |
A |
7: 11,993,877 (GRCm39) |
T244S |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,618,941 (GRCm39) |
F2875S |
probably damaging |
Het |
| Wscd1 |
A |
G |
11: 71,657,692 (GRCm39) |
M166V |
probably damaging |
Het |
| Zfp296 |
T |
C |
7: 19,313,864 (GRCm39) |
Y240H |
possibly damaging |
Het |
| Zfp462 |
A |
G |
4: 55,013,689 (GRCm39) |
H737R |
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 |
|
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 |
|
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'- GCGTTACTAACTGCCATTCACTTTCAGA -3'
(R):5'- GCTCCATTTTAGGCTGCAACAACCTC -3'
Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- GAGACATTTTGAAAACTTGTCCCCC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation