Incidental Mutation 'R7535:Dgkb'
| ID |
583540 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkb
|
| Ensembl Gene |
ENSMUSG00000036095 |
| Gene Name |
diacylglycerol kinase, beta |
| Synonyms |
C630029D13Rik, DGK-beta |
| MMRRC Submission |
045607-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R7535 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
37930169-38684238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38186646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 265
(L265P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037900
(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: L265P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: L265P
| 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: L265P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221176
AA Change: L272P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (82/82) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
A |
10: 79,837,463 (GRCm39) |
L449Q |
probably benign |
Het |
| Agtpbp1 |
T |
C |
13: 59,652,067 (GRCm39) |
T415A |
probably benign |
Het |
| Akt3 |
A |
T |
1: 176,924,600 (GRCm39) |
V165D |
probably damaging |
Het |
| Cbr2 |
T |
A |
11: 120,620,628 (GRCm39) |
I219F |
probably damaging |
Het |
| Cdh20 |
T |
A |
1: 104,902,768 (GRCm39) |
D486E |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,949,523 (GRCm39) |
S103G |
possibly damaging |
Het |
| Chd4 |
T |
A |
6: 125,105,836 (GRCm39) |
S1818T |
probably benign |
Het |
| Chst5 |
T |
C |
8: 112,616,795 (GRCm39) |
D275G |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,724,328 (GRCm39) |
I244T |
probably damaging |
Het |
| Cyp2c54 |
A |
G |
19: 40,058,716 (GRCm39) |
Y239H |
probably benign |
Het |
| Czib |
T |
G |
4: 107,752,097 (GRCm39) |
S159A |
probably benign |
Het |
| Ddx25 |
A |
G |
9: 35,454,951 (GRCm39) |
F446L |
possibly damaging |
Het |
| Dis3 |
A |
G |
14: 99,327,415 (GRCm39) |
S363P |
probably benign |
Het |
| Disp3 |
T |
C |
4: 148,327,323 (GRCm39) |
E1187G |
probably damaging |
Het |
| Dop1b |
G |
A |
16: 93,603,249 (GRCm39) |
G2061R |
probably damaging |
Het |
| Dsp |
T |
C |
13: 38,376,765 (GRCm39) |
S1517P |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,076,141 (GRCm39) |
V2513E |
probably benign |
Het |
| Fryl |
T |
A |
5: 73,255,539 (GRCm39) |
T831S |
probably benign |
Het |
| Gm6309 |
A |
T |
5: 146,105,100 (GRCm39) |
V271D |
probably damaging |
Het |
| H2-M2 |
G |
T |
17: 37,793,528 (GRCm39) |
S159R |
probably benign |
Het |
| Helq |
A |
G |
5: 100,937,999 (GRCm39) |
|
probably null |
Het |
| Herc1 |
G |
C |
9: 66,382,135 (GRCm39) |
D3621H |
probably damaging |
Het |
| Hsd11b2 |
A |
T |
8: 106,245,755 (GRCm39) |
I87F |
probably damaging |
Het |
| Ice2 |
A |
G |
9: 69,339,360 (GRCm39) |
N959S |
probably damaging |
Het |
| Ifi47 |
T |
A |
11: 48,987,452 (GRCm39) |
D406E |
probably damaging |
Het |
| Ifit3 |
T |
G |
19: 34,565,280 (GRCm39) |
S275R |
probably damaging |
Het |
| Insl5 |
C |
A |
4: 102,875,395 (GRCm39) |
K118N |
probably damaging |
Het |
| Irf7 |
A |
T |
7: 140,844,550 (GRCm39) |
F158I |
probably benign |
Het |
| Kat2b |
T |
C |
17: 53,931,431 (GRCm39) |
L143P |
probably damaging |
Het |
| Klk1b1 |
A |
T |
7: 43,619,746 (GRCm39) |
N102Y |
probably damaging |
Het |
| Krt13 |
C |
T |
11: 100,008,824 (GRCm39) |
G410S |
unknown |
Het |
| Larp6 |
A |
T |
9: 60,631,437 (GRCm39) |
T70S |
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,392,683 (GRCm39) |
E914G |
possibly damaging |
Het |
| Mindy4 |
T |
C |
6: 55,274,738 (GRCm39) |
|
probably null |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Myom2 |
A |
G |
8: 15,167,679 (GRCm39) |
Y1088C |
probably damaging |
Het |
| Mysm1 |
T |
C |
4: 94,840,452 (GRCm39) |
N655D |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,329,390 (GRCm39) |
S112T |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,055,115 (GRCm39) |
|
probably null |
Het |
| Noxred1 |
G |
A |
12: 87,280,206 (GRCm39) |
A42V |
probably benign |
Het |
| Olfm5 |
G |
A |
7: 103,803,444 (GRCm39) |
P340S |
possibly damaging |
Het |
| Or11h4 |
G |
A |
14: 50,974,122 (GRCm39) |
P166S |
probably benign |
Het |
| Or2l5 |
T |
C |
16: 19,333,544 (GRCm39) |
T281A |
probably damaging |
Het |
| Or5al5 |
A |
G |
2: 85,961,608 (GRCm39) |
V133A |
probably benign |
Het |
| Or5m8 |
T |
A |
2: 85,822,245 (GRCm39) |
V28E |
probably benign |
Het |
| Or9i1b |
A |
G |
19: 13,896,449 (GRCm39) |
K22E |
probably benign |
Het |
| Pccb |
A |
T |
9: 100,876,615 (GRCm39) |
|
probably null |
Het |
| Pnn |
T |
A |
12: 59,118,923 (GRCm39) |
V502E |
probably benign |
Het |
| Pole2 |
A |
T |
12: 69,269,203 (GRCm39) |
I98K |
probably benign |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Rasgrp4 |
A |
G |
7: 28,838,484 (GRCm39) |
K111E |
probably benign |
Het |
| Rbbp6 |
G |
A |
7: 122,589,366 (GRCm39) |
M351I |
probably benign |
Het |
| Rgs19 |
T |
G |
2: 181,333,101 (GRCm39) |
H53P |
probably damaging |
Het |
| Rin1 |
A |
T |
19: 5,102,564 (GRCm39) |
T369S |
probably benign |
Het |
| Rnaset2b |
G |
A |
17: 7,259,138 (GRCm39) |
E135K |
possibly damaging |
Het |
| Rprd2 |
G |
A |
3: 95,683,899 (GRCm39) |
P379S |
probably damaging |
Het |
| Sbno1 |
A |
G |
5: 124,551,342 (GRCm39) |
L47P |
possibly damaging |
Het |
| Slamf6 |
T |
A |
1: 171,747,325 (GRCm39) |
L29Q |
unknown |
Het |
| Slc16a14 |
T |
C |
1: 84,890,843 (GRCm39) |
Y154C |
probably damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,147,342 (GRCm39) |
F340S |
probably damaging |
Het |
| Slc6a4 |
T |
G |
11: 76,905,976 (GRCm39) |
I259S |
possibly damaging |
Het |
| Smarca4 |
G |
A |
9: 21,558,921 (GRCm39) |
V651I |
possibly damaging |
Het |
| Susd5 |
C |
T |
9: 113,893,108 (GRCm39) |
A62V |
possibly damaging |
Het |
| Syt1 |
T |
A |
10: 108,463,283 (GRCm39) |
|
probably null |
Het |
| Taf10 |
T |
C |
7: 105,390,117 (GRCm39) |
I218T |
probably benign |
Het |
| Tas1r1 |
C |
A |
4: 152,112,819 (GRCm39) |
V745F |
probably benign |
Het |
| Tas2r125 |
C |
A |
6: 132,887,287 (GRCm39) |
T225K |
probably damaging |
Het |
| Tcp11l2 |
G |
T |
10: 84,430,523 (GRCm39) |
R216L |
possibly damaging |
Het |
| Tnks1bp1 |
C |
T |
2: 84,893,624 (GRCm39) |
Q1184* |
probably null |
Het |
| Treml2 |
T |
A |
17: 48,609,847 (GRCm39) |
V93D |
probably damaging |
Het |
| Trim11 |
G |
A |
11: 58,872,891 (GRCm39) |
E192K |
probably damaging |
Het |
| Trim43a |
A |
G |
9: 88,470,201 (GRCm39) |
K336E |
probably damaging |
Het |
| Tspan33 |
T |
A |
6: 29,717,588 (GRCm39) |
I268N |
possibly damaging |
Het |
| Tstd2 |
C |
T |
4: 46,116,960 (GRCm39) |
C458Y |
probably damaging |
Het |
| Ttc6 |
A |
G |
12: 57,623,305 (GRCm39) |
S235G |
probably benign |
Het |
| Usp29 |
A |
C |
7: 6,964,219 (GRCm39) |
T21P |
possibly damaging |
Het |
| Usp36 |
A |
T |
11: 118,152,872 (GRCm39) |
S1084T |
possibly damaging |
Het |
| Vps39 |
T |
A |
2: 120,155,176 (GRCm39) |
N550I |
probably damaging |
Het |
| Wdr47 |
A |
G |
3: 108,537,027 (GRCm39) |
I572V |
probably benign |
Het |
| Zfp112 |
A |
T |
7: 23,826,135 (GRCm39) |
Y705F |
probably damaging |
Het |
| Zfp282 |
A |
G |
6: 47,881,878 (GRCm39) |
T522A |
probably benign |
Het |
| Zfp292 |
T |
C |
4: 34,811,487 (GRCm39) |
D524G |
probably benign |
Het |
| Zfp90 |
A |
T |
8: 107,150,900 (GRCm39) |
K204N |
possibly damaging |
Het |
| Zmym2 |
T |
C |
14: 57,194,536 (GRCm39) |
S1265P |
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 |
|
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'- ACTCTTGTACTGGAGAGAGCC -3'
(R):5'- AAGGAAGTTGGCCAGTGACC -3'
Sequencing Primer
(F):5'- CCTGAGCTCGATTGGCACTTG -3'
(R):5'- TGGCCAGTGACCTGAACATTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation