Incidental Mutation 'R5485:Dgkb'
ID |
432534 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dgkb
|
Ensembl Gene |
ENSMUSG00000036095 |
Gene Name |
diacylglycerol kinase, beta |
Synonyms |
C630029D13Rik, DGK-beta |
MMRRC Submission |
043046-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.130)
|
Stock # |
R5485 (G1)
|
Quality Score |
175 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
37930169-38684238 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 38177363 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 230
(V230A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152446
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040500]
[ENSMUST00000220990]
[ENSMUST00000221176]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040500
AA Change: V223A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000037900 Gene: ENSMUSG00000036095 AA Change: V223A
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 |
noncoding transcript
Transcript: ENSMUST00000220606
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220990
AA Change: V223A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221098
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000221176
AA Change: V230A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221540
|
Meta Mutation Damage Score |
0.2900 |
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.6%
|
Validation Efficiency |
98% (59/60) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
A |
T |
11: 23,467,378 (GRCm39) |
V85D |
probably benign |
Het |
Abcb8 |
A |
G |
5: 24,605,159 (GRCm39) |
N115S |
probably benign |
Het |
Appl1 |
C |
A |
14: 26,684,823 (GRCm39) |
L75F |
probably damaging |
Het |
Atp13a5 |
A |
G |
16: 29,100,760 (GRCm39) |
|
probably null |
Het |
Atp2c2 |
T |
A |
8: 120,479,801 (GRCm39) |
|
probably null |
Het |
Cfap54 |
T |
A |
10: 92,864,979 (GRCm39) |
I94F |
probably damaging |
Het |
Clasp1 |
A |
G |
1: 118,395,643 (GRCm39) |
I194V |
possibly damaging |
Het |
Crebbp |
A |
C |
16: 3,932,777 (GRCm39) |
D1000E |
probably benign |
Het |
Ctdnep1 |
C |
T |
11: 69,872,316 (GRCm39) |
R3W |
possibly damaging |
Het |
Duoxa2 |
T |
C |
2: 122,129,633 (GRCm39) |
F38L |
possibly damaging |
Het |
Ecd |
T |
C |
14: 20,388,273 (GRCm39) |
S172G |
probably benign |
Het |
Endog |
G |
T |
2: 30,061,663 (GRCm39) |
|
probably benign |
Het |
Eqtn |
G |
A |
4: 94,813,193 (GRCm39) |
P131L |
possibly damaging |
Het |
Gabbr1 |
T |
A |
17: 37,367,767 (GRCm39) |
S290T |
possibly damaging |
Het |
Glt8d2 |
T |
A |
10: 82,487,282 (GRCm39) |
R319S |
possibly damaging |
Het |
Gm16686 |
A |
G |
4: 88,673,641 (GRCm39) |
|
probably benign |
Het |
Gm5709 |
A |
T |
3: 59,542,983 (GRCm39) |
|
noncoding transcript |
Het |
Gm7381 |
T |
C |
8: 3,892,161 (GRCm39) |
|
noncoding transcript |
Het |
Gorab |
T |
G |
1: 163,213,871 (GRCm39) |
D353A |
possibly damaging |
Het |
Gstm1 |
A |
G |
3: 107,924,720 (GRCm39) |
L20P |
probably damaging |
Het |
Hexim2 |
A |
G |
11: 103,029,884 (GRCm39) |
D312G |
probably benign |
Het |
Hfm1 |
A |
G |
5: 106,995,528 (GRCm39) |
|
probably null |
Het |
Mbd4 |
C |
A |
6: 115,827,679 (GRCm39) |
A66S |
probably benign |
Het |
Mmp27 |
T |
A |
9: 7,573,363 (GRCm39) |
W152R |
probably damaging |
Het |
Mogat1 |
A |
G |
1: 78,500,307 (GRCm39) |
T124A |
probably benign |
Het |
Mrps18b |
A |
T |
17: 36,225,236 (GRCm39) |
V102D |
probably damaging |
Het |
Or10g3b |
A |
T |
14: 52,586,776 (GRCm39) |
C242* |
probably null |
Het |
Peg10 |
T |
A |
6: 4,755,565 (GRCm39) |
M47K |
probably benign |
Het |
Plxnc1 |
T |
G |
10: 94,758,604 (GRCm39) |
Q364P |
probably benign |
Het |
Psd |
A |
T |
19: 46,304,528 (GRCm39) |
|
probably null |
Het |
Rims1 |
T |
G |
1: 22,522,289 (GRCm39) |
I470L |
possibly damaging |
Het |
Sbsn |
T |
C |
7: 30,452,542 (GRCm39) |
V519A |
possibly damaging |
Het |
Senp1 |
A |
G |
15: 97,964,377 (GRCm39) |
V279A |
probably benign |
Het |
Sfxn5 |
T |
A |
6: 85,309,582 (GRCm39) |
|
probably benign |
Het |
Slc6a13 |
T |
A |
6: 121,313,032 (GRCm39) |
M483K |
probably damaging |
Het |
Slc6a21 |
G |
A |
7: 44,931,966 (GRCm39) |
|
probably null |
Het |
Slco6c1 |
T |
C |
1: 97,053,481 (GRCm39) |
Y140C |
probably damaging |
Het |
Spata32 |
A |
G |
11: 103,100,122 (GRCm39) |
S128P |
probably damaging |
Het |
Spty2d1 |
G |
T |
7: 46,647,633 (GRCm39) |
T432K |
possibly damaging |
Het |
Stx8 |
A |
G |
11: 67,911,792 (GRCm39) |
Q170R |
probably benign |
Het |
Sytl3 |
G |
A |
17: 6,982,879 (GRCm39) |
V112I |
probably benign |
Het |
Tdrkh |
A |
G |
3: 94,336,019 (GRCm39) |
I420V |
probably benign |
Het |
Tmem117 |
T |
C |
15: 94,992,711 (GRCm39) |
V457A |
probably benign |
Het |
Tpk1 |
T |
C |
6: 43,642,746 (GRCm39) |
|
probably benign |
Het |
Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
Tsen54 |
A |
G |
11: 115,706,048 (GRCm39) |
E90G |
probably benign |
Het |
Ugt1a2 |
A |
T |
1: 88,128,968 (GRCm39) |
M204L |
probably damaging |
Het |
Vmn2r17 |
A |
T |
5: 109,567,972 (GRCm39) |
I32F |
probably benign |
Het |
Xkr6 |
T |
C |
14: 64,056,833 (GRCm39) |
V248A |
unknown |
Het |
Zfhx4 |
C |
A |
3: 5,308,067 (GRCm39) |
S431Y |
probably damaging |
Het |
Zfp318 |
T |
A |
17: 46,723,180 (GRCm39) |
S1728T |
possibly damaging |
Het |
Zfp563 |
T |
C |
17: 33,308,540 (GRCm39) |
|
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 |
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'- TTAAGGACAGGTTTCTCCACTCTC -3'
(R):5'- TCACACAATTGCGCCATGG -3'
Sequencing Primer
(F):5'- CACCAGCTAGAGAAAGTGTTTTG -3'
(R):5'- CAATTGCGCCATGGGATTAC -3'
|
Posted On |
2016-10-05 |