Incidental Mutation 'R7268:Dgkb'
| ID |
565097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkb
|
| Ensembl Gene |
ENSMUSG00000036095 |
| Gene Name |
diacylglycerol kinase, beta |
| Synonyms |
C630029D13Rik, DGK-beta |
| MMRRC Submission |
045319-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R7268 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
37930169-38684238 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 38197554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 355
(L355*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040500]
[ENSMUST00000220990]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040500
AA Change: L355*
|
| SMART Domains |
Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: L355*
| 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 null
Transcript: ENSMUST00000220990
AA Change: L355*
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
99% (72/73) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
C |
1: 156,461,509 (GRCm39) |
|
probably null |
Het |
| Acsf3 |
A |
G |
8: 123,517,401 (GRCm39) |
Y399C |
probably benign |
Het |
| Acsm5 |
A |
T |
7: 119,136,511 (GRCm39) |
T361S |
probably benign |
Het |
| Agap1 |
T |
G |
1: 89,694,070 (GRCm39) |
I456S |
probably benign |
Het |
| Ahnak2 |
A |
T |
12: 112,780,802 (GRCm38) |
V70E |
|
Het |
| Alb |
T |
A |
5: 90,610,575 (GRCm39) |
S52T |
probably benign |
Het |
| Ankle1 |
A |
G |
8: 71,860,189 (GRCm39) |
T256A |
probably damaging |
Het |
| Armt1 |
G |
A |
10: 4,400,855 (GRCm39) |
V201M |
possibly damaging |
Het |
| Atp2a2 |
T |
C |
5: 122,605,792 (GRCm39) |
T388A |
probably benign |
Het |
| Atp6v0a2 |
T |
C |
5: 124,796,930 (GRCm39) |
L770P |
probably damaging |
Het |
| B4galnt3 |
A |
T |
6: 120,192,003 (GRCm39) |
W578R |
possibly damaging |
Het |
| Babam2 |
T |
C |
5: 31,859,197 (GRCm39) |
S2P |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,960,090 (GRCm39) |
H1459R |
possibly damaging |
Het |
| Bbs7 |
C |
T |
3: 36,658,575 (GRCm39) |
R233Q |
probably benign |
Het |
| Cacna2d1 |
G |
A |
5: 16,575,586 (GRCm39) |
G1076R |
probably damaging |
Het |
| Camsap2 |
C |
T |
1: 136,201,483 (GRCm39) |
|
probably null |
Het |
| Car10 |
A |
G |
11: 93,490,077 (GRCm39) |
N273D |
probably benign |
Het |
| Ccdc66 |
T |
C |
14: 27,208,880 (GRCm39) |
D458G |
probably benign |
Het |
| Ccdc7a |
T |
A |
8: 129,607,633 (GRCm39) |
H982L |
possibly damaging |
Het |
| Col9a1 |
A |
G |
1: 24,246,479 (GRCm39) |
K386E |
possibly damaging |
Het |
| Ctcfl |
A |
G |
2: 172,949,588 (GRCm39) |
I415T |
probably benign |
Het |
| Cyp3a16 |
G |
C |
5: 145,404,280 (GRCm39) |
Y54* |
probably null |
Het |
| Dact2 |
T |
C |
17: 14,416,797 (GRCm39) |
T468A |
probably benign |
Het |
| Dhx40 |
A |
T |
11: 86,697,442 (GRCm39) |
C42S |
possibly damaging |
Het |
| Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
| Dop1a |
G |
T |
9: 86,394,830 (GRCm39) |
E637* |
probably null |
Het |
| Dpp4 |
G |
T |
2: 62,178,186 (GRCm39) |
P649T |
probably damaging |
Het |
| Eri3 |
T |
A |
4: 117,506,580 (GRCm39) |
I303K |
probably benign |
Het |
| Foxi1 |
A |
T |
11: 34,155,783 (GRCm39) |
Y282* |
probably null |
Het |
| Gdi2 |
T |
A |
13: 3,606,363 (GRCm39) |
Y146* |
probably null |
Het |
| Gns |
A |
G |
10: 121,212,557 (GRCm39) |
Y173C |
probably damaging |
Het |
| Gpc1 |
C |
A |
1: 92,786,093 (GRCm39) |
P494Q |
possibly damaging |
Het |
| Habp2 |
G |
T |
19: 56,302,518 (GRCm39) |
G274V |
probably damaging |
Het |
| Hcfc2 |
T |
A |
10: 82,544,846 (GRCm39) |
Y159* |
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,347,978 (GRCm39) |
S4875T |
possibly damaging |
Het |
| Hmgcs2 |
A |
G |
3: 98,204,796 (GRCm39) |
N318S |
probably benign |
Het |
| Lnpep |
A |
T |
17: 17,758,803 (GRCm39) |
M847K |
probably benign |
Het |
| Mmp16 |
A |
C |
4: 18,093,366 (GRCm39) |
M374L |
probably benign |
Het |
| Mrpl38 |
A |
G |
11: 116,029,396 (GRCm39) |
I40T |
possibly damaging |
Het |
| Ncstn |
T |
C |
1: 171,908,830 (GRCm39) |
T46A |
possibly damaging |
Het |
| Nlrp1a |
C |
T |
11: 71,015,068 (GRCm39) |
V61I |
probably benign |
Het |
| Npas2 |
G |
T |
1: 39,326,658 (GRCm39) |
V48L |
probably damaging |
Het |
| Or13p5 |
A |
G |
4: 118,592,605 (GRCm39) |
Y293C |
probably damaging |
Het |
| Or52ac1 |
G |
A |
7: 104,246,284 (GRCm39) |
L35F |
probably benign |
Het |
| Or6c6 |
C |
T |
10: 129,187,263 (GRCm39) |
T277I |
possibly damaging |
Het |
| Pcyox1 |
A |
T |
6: 86,368,713 (GRCm39) |
N268K |
possibly damaging |
Het |
| Pramel14 |
A |
T |
4: 143,720,090 (GRCm39) |
|
probably null |
Het |
| Prr27 |
T |
C |
5: 87,991,135 (GRCm39) |
L249P |
probably damaging |
Het |
| Psat1 |
A |
T |
19: 15,894,508 (GRCm39) |
V168D |
probably damaging |
Het |
| Psg17 |
G |
T |
7: 18,548,586 (GRCm39) |
T395K |
possibly damaging |
Het |
| Ptgis |
A |
G |
2: 167,048,676 (GRCm39) |
Y447H |
probably benign |
Het |
| Rad50 |
T |
A |
11: 53,575,102 (GRCm39) |
N607I |
probably benign |
Het |
| Rps6ka2 |
T |
C |
17: 7,562,662 (GRCm39) |
Y602H |
possibly damaging |
Het |
| Senp6 |
G |
A |
9: 80,049,406 (GRCm39) |
R1010H |
probably damaging |
Het |
| Slc8a3 |
C |
A |
12: 81,361,827 (GRCm39) |
D331Y |
probably damaging |
Het |
| Slc9c1 |
G |
A |
16: 45,370,479 (GRCm39) |
S240N |
probably damaging |
Het |
| Slf1 |
A |
G |
13: 77,214,826 (GRCm39) |
L620P |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,351,473 (GRCm39) |
E847G |
probably damaging |
Het |
| Spaca6 |
T |
C |
17: 18,052,369 (GRCm39) |
V103A |
probably benign |
Het |
| Tbk1 |
A |
G |
10: 121,388,404 (GRCm39) |
Y591H |
probably benign |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
| Tfap2a |
G |
A |
13: 40,882,236 (GRCm39) |
T15I |
possibly damaging |
Het |
| Tgm2 |
G |
A |
2: 157,962,188 (GRCm39) |
R544* |
probably null |
Het |
| Tmem116 |
T |
A |
5: 121,605,918 (GRCm39) |
I90K |
|
Het |
| Tmem30c |
A |
C |
16: 57,086,777 (GRCm39) |
L342R |
probably damaging |
Het |
| Trpm6 |
C |
T |
19: 18,755,949 (GRCm39) |
T64I |
probably benign |
Het |
| Ttll8 |
A |
G |
15: 88,819,159 (GRCm39) |
|
probably null |
Het |
| Vcpip1 |
A |
G |
1: 9,816,307 (GRCm39) |
I692T |
probably damaging |
Het |
| Vmn1r169 |
T |
G |
7: 23,276,853 (GRCm39) |
F82V |
probably benign |
Het |
| Vmn1r178 |
G |
A |
7: 23,593,378 (GRCm39) |
C142Y |
probably benign |
Het |
| Vmn2r16 |
T |
A |
5: 109,488,331 (GRCm39) |
Y401* |
probably null |
Het |
| Wdr91 |
A |
G |
6: 34,869,375 (GRCm39) |
V383A |
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 |
|
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 |
|
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'- GCAAGGATACACTGTAGTTGGC -3'
(R):5'- CTCCACCATGTATGCACAAGG -3'
Sequencing Primer
(F):5'- CACTGTAGTTGGCAATAAATTGTG -3'
(R):5'- AGCAGAGAGAGGTTTCTGCTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation