Incidental Mutation 'R0078:Dgkb'
| ID |
19564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkb
|
| Ensembl Gene |
ENSMUSG00000036095 |
| Gene Name |
diacylglycerol kinase, beta |
| Synonyms |
C630029D13Rik, DGK-beta |
| MMRRC Submission |
038365-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R0078 (G1)
|
| Quality Score |
194 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
37930169-38684238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38186540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 237
(N237D)
|
| 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 benign
Transcript: ENSMUST00000040500
AA Change: N230D
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: N230D
| 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 benign
Transcript: ENSMUST00000220990
AA Change: N230D
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221098
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221176
AA Change: N237D
PolyPhen 2
Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221540
|
| Meta Mutation Damage Score |
0.1490 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.1%
- 20x: 89.2%
|
| Validation Efficiency |
81% (203/250) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,891,129 (GRCm39) |
Q456L |
probably benign |
Het |
| Abcf1 |
A |
G |
17: 36,268,954 (GRCm39) |
|
probably benign |
Het |
| Adamts7 |
A |
T |
9: 90,061,464 (GRCm39) |
S357C |
probably damaging |
Het |
| Ankrd26 |
A |
G |
6: 118,512,030 (GRCm39) |
|
probably benign |
Het |
| Asb17 |
T |
A |
3: 153,550,301 (GRCm39) |
V111E |
probably damaging |
Het |
| C1qtnf4 |
C |
A |
2: 90,719,893 (GRCm39) |
N55K |
probably damaging |
Het |
| Cacng5 |
G |
T |
11: 107,768,259 (GRCm39) |
D249E |
probably benign |
Het |
| Camkk2 |
C |
A |
5: 122,895,622 (GRCm39) |
|
probably null |
Het |
| Ccdc27 |
T |
G |
4: 154,120,195 (GRCm39) |
|
probably benign |
Het |
| Cfap251 |
G |
A |
5: 123,436,633 (GRCm39) |
R1054H |
probably benign |
Het |
| Cngb1 |
T |
A |
8: 95,991,173 (GRCm39) |
|
probably null |
Het |
| Col7a1 |
A |
G |
9: 108,803,981 (GRCm39) |
|
probably benign |
Het |
| Corin |
T |
A |
5: 72,611,816 (GRCm39) |
D148V |
possibly damaging |
Het |
| Cstdc1 |
T |
A |
2: 148,627,745 (GRCm39) |
*131K |
probably null |
Het |
| Defb26 |
A |
C |
2: 152,349,988 (GRCm39) |
D97E |
possibly damaging |
Het |
| Dsp |
A |
G |
13: 38,379,993 (GRCm39) |
N1647S |
probably benign |
Het |
| Dtna |
G |
A |
18: 23,754,499 (GRCm39) |
A438T |
probably damaging |
Het |
| Erbb3 |
G |
T |
10: 128,419,310 (GRCm39) |
F219L |
probably damaging |
Het |
| EU599041 |
G |
A |
7: 42,875,275 (GRCm39) |
|
noncoding transcript |
Het |
| Fat1 |
A |
G |
8: 45,406,336 (GRCm39) |
N1029S |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,943,080 (GRCm39) |
S658P |
probably benign |
Het |
| Fgfr2 |
C |
T |
7: 129,802,805 (GRCm39) |
D168N |
possibly damaging |
Het |
| Fstl5 |
T |
A |
3: 76,566,952 (GRCm39) |
|
probably benign |
Het |
| Glmn |
C |
T |
5: 107,705,836 (GRCm39) |
V451I |
probably benign |
Het |
| Gm9938 |
T |
A |
19: 23,701,988 (GRCm39) |
|
probably benign |
Het |
| Gpat2 |
T |
C |
2: 127,270,169 (GRCm39) |
S61P |
probably damaging |
Het |
| Gpr22 |
T |
A |
12: 31,761,640 (GRCm39) |
M6L |
probably benign |
Het |
| Grm5 |
T |
C |
7: 87,724,185 (GRCm39) |
L825P |
probably damaging |
Het |
| Gstz1 |
A |
T |
12: 87,206,477 (GRCm39) |
I66F |
probably benign |
Het |
| H2-T22 |
A |
G |
17: 36,351,501 (GRCm39) |
V243A |
probably damaging |
Het |
| H2-T5 |
A |
T |
17: 36,476,353 (GRCm39) |
S304T |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,309,517 (GRCm39) |
L586F |
probably damaging |
Het |
| Hmcn2 |
T |
G |
2: 31,278,356 (GRCm39) |
L1686R |
probably damaging |
Het |
| Ice1 |
T |
C |
13: 70,751,467 (GRCm39) |
R1540G |
probably damaging |
Het |
| Igha |
T |
A |
12: 113,223,547 (GRCm39) |
|
probably benign |
Het |
| Kif3a |
C |
A |
11: 53,469,812 (GRCm39) |
T141K |
probably benign |
Het |
| Knl1 |
G |
A |
2: 118,900,373 (GRCm39) |
M691I |
probably benign |
Het |
| L3mbtl1 |
T |
C |
2: 162,789,146 (GRCm39) |
V13A |
probably benign |
Het |
| Lamc1 |
T |
A |
1: 153,104,936 (GRCm39) |
N1282I |
probably damaging |
Het |
| Lemd2 |
G |
T |
17: 27,422,702 (GRCm39) |
L231I |
probably benign |
Het |
| Lrrk2 |
G |
A |
15: 91,618,212 (GRCm39) |
V904M |
probably benign |
Het |
| Lyzl6 |
C |
T |
11: 103,524,795 (GRCm39) |
S103N |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,367,661 (GRCm39) |
R2367W |
probably damaging |
Het |
| Mapk3 |
T |
C |
7: 126,358,977 (GRCm39) |
Y54H |
probably damaging |
Het |
| Mlh3 |
A |
T |
12: 85,315,592 (GRCm39) |
V198D |
probably damaging |
Het |
| Myocd |
T |
C |
11: 65,078,290 (GRCm39) |
S374G |
possibly damaging |
Het |
| Ngef |
T |
C |
1: 87,468,387 (GRCm39) |
E124G |
probably benign |
Het |
| Nhsl3 |
T |
C |
4: 129,121,516 (GRCm39) |
|
probably null |
Het |
| Nr4a2 |
T |
C |
2: 57,002,240 (GRCm39) |
Y8C |
probably damaging |
Het |
| Nynrin |
T |
A |
14: 56,100,789 (GRCm39) |
V193D |
probably damaging |
Het |
| Or10ak9 |
T |
A |
4: 118,726,424 (GRCm39) |
S148T |
probably benign |
Het |
| Or10w1 |
G |
T |
19: 13,632,179 (GRCm39) |
V129F |
probably benign |
Het |
| Or1p1 |
A |
T |
11: 74,180,092 (GRCm39) |
I207F |
probably damaging |
Het |
| Or4k36 |
A |
T |
2: 111,146,249 (GRCm39) |
I142F |
probably benign |
Het |
| Or6d15 |
A |
G |
6: 116,559,701 (GRCm39) |
S69P |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,710,793 (GRCm39) |
Y174C |
probably damaging |
Het |
| Pcf11 |
T |
C |
7: 92,318,767 (GRCm39) |
D21G |
possibly damaging |
Het |
| Pdia4 |
A |
C |
6: 47,775,344 (GRCm39) |
F489V |
possibly damaging |
Het |
| Pitrm1 |
C |
T |
13: 6,625,068 (GRCm39) |
P849S |
probably damaging |
Het |
| Plcz1 |
T |
C |
6: 139,935,510 (GRCm39) |
Y644C |
probably damaging |
Het |
| Ppp5c |
T |
C |
7: 16,761,650 (GRCm39) |
E28G |
probably benign |
Het |
| Prkcb |
A |
G |
7: 122,189,393 (GRCm39) |
Y507C |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,398,251 (GRCm39) |
D1072G |
probably benign |
Het |
| Scarf1 |
A |
G |
11: 75,405,988 (GRCm39) |
|
probably benign |
Het |
| Scoc |
T |
A |
8: 84,184,887 (GRCm39) |
|
probably null |
Het |
| Sh2d4a |
A |
T |
8: 68,734,973 (GRCm39) |
M31L |
probably damaging |
Het |
| Spta1 |
T |
A |
1: 174,034,598 (GRCm39) |
|
probably benign |
Het |
| Stard7 |
A |
G |
2: 127,134,127 (GRCm39) |
Y270C |
probably damaging |
Het |
| Svs3b |
T |
C |
2: 164,097,881 (GRCm39) |
T147A |
probably benign |
Het |
| Tmtc3 |
A |
G |
10: 100,284,823 (GRCm39) |
L604P |
probably damaging |
Het |
| Trim30b |
A |
T |
7: 104,015,102 (GRCm39) |
N95K |
probably benign |
Het |
| Trpm8 |
C |
A |
1: 88,255,870 (GRCm39) |
|
probably benign |
Het |
| Tspan9 |
T |
C |
6: 127,943,448 (GRCm39) |
|
probably null |
Het |
| Tubgcp5 |
C |
T |
7: 55,468,643 (GRCm39) |
R713C |
probably damaging |
Het |
| Tyro3 |
A |
T |
2: 119,647,487 (GRCm39) |
Q872L |
probably damaging |
Het |
| Vmn1r204 |
G |
A |
13: 22,740,379 (GRCm39) |
M3I |
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,035,971 (GRCm39) |
I2149T |
possibly damaging |
Het |
| Zfp668 |
A |
T |
7: 127,467,210 (GRCm39) |
M122K |
possibly damaging |
Het |
| Zkscan1 |
A |
T |
5: 138,091,363 (GRCm39) |
D32V |
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 |
|
|
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 |
|
|
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'- CCTGAAGTCTCTGTGGCACTCTTG -3'
(R):5'- CCAGTGACCTGAACATTGAGCAGC -3'
Sequencing Primer
(F):5'- CACTCTTGTACTGGAGAGAGC -3'
(R):5'- GTACAATAAGCATTTTGGCCTGG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation