Incidental Mutation 'R7885:Dgkb'
| ID |
609025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkb
|
| Ensembl Gene |
ENSMUSG00000036095 |
| Gene Name |
diacylglycerol kinase, beta |
| Synonyms |
C630029D13Rik, DGK-beta |
| MMRRC Submission |
045937-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R7885 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
37930169-38684238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38189425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 276
(E276G)
|
| 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: E276G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: E276G
| 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: E276G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221176
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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 |
|---|
| Adarb1 |
A |
G |
10: 77,131,542 (GRCm39) |
V649A |
possibly damaging |
Het |
| Arglu1 |
C |
T |
8: 8,717,337 (GRCm39) |
R244H |
possibly damaging |
Het |
| Asic5 |
A |
T |
3: 81,913,812 (GRCm39) |
Y204F |
probably benign |
Het |
| Asz1 |
A |
G |
6: 18,104,876 (GRCm39) |
F76S |
probably damaging |
Het |
| Bin1 |
G |
A |
18: 32,552,896 (GRCm39) |
A174T |
probably damaging |
Het |
| Bnipl |
A |
C |
3: 95,157,551 (GRCm39) |
S23A |
probably benign |
Het |
| Cd19 |
T |
C |
7: 126,011,303 (GRCm39) |
T294A |
probably benign |
Het |
| Cdon |
G |
A |
9: 35,367,818 (GRCm39) |
V238I |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,247,451 (GRCm39) |
D957E |
probably benign |
Het |
| Crhbp |
T |
C |
13: 95,568,515 (GRCm39) |
Q307R |
probably damaging |
Het |
| Cst3 |
A |
G |
2: 148,714,741 (GRCm39) |
M112T |
probably benign |
Het |
| Exoc4 |
T |
A |
6: 33,735,001 (GRCm39) |
N539K |
probably benign |
Het |
| Gm3099 |
A |
G |
14: 15,345,429 (GRCm39) |
E85G |
probably benign |
Het |
| Gpatch2 |
A |
G |
1: 186,957,698 (GRCm39) |
|
probably null |
Het |
| Hs3st5 |
T |
A |
10: 36,704,776 (GRCm39) |
Y26* |
probably null |
Het |
| Hspg2 |
A |
T |
4: 137,244,148 (GRCm39) |
D802V |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,431,813 (GRCm39) |
V846A |
possibly damaging |
Het |
| Lama4 |
T |
A |
10: 38,964,840 (GRCm39) |
S1402T |
probably benign |
Het |
| Lrmda |
A |
G |
14: 22,648,388 (GRCm39) |
T73A |
unknown |
Het |
| Lrrc1 |
A |
T |
9: 77,349,471 (GRCm39) |
V365E |
probably damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,393,868 (GRCm39) |
Q519L |
probably benign |
Het |
| Mlc1 |
G |
T |
15: 88,862,107 (GRCm39) |
D36E |
probably benign |
Het |
| Mrc2 |
A |
T |
11: 105,223,092 (GRCm39) |
D445V |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,550,760 (GRCm39) |
S5178P |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,573,110 (GRCm39) |
I2491T |
probably damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,389,044 (GRCm39) |
I77T |
probably damaging |
Het |
| Npepps |
G |
T |
11: 97,109,474 (GRCm39) |
H701N |
probably damaging |
Het |
| Or4n4b |
T |
G |
14: 50,536,041 (GRCm39) |
T242P |
probably damaging |
Het |
| Or7g22 |
A |
T |
9: 19,048,831 (GRCm39) |
I181F |
possibly damaging |
Het |
| Pclo |
T |
TTCTAG |
5: 14,764,209 (GRCm39) |
|
probably null |
Het |
| Pclo |
GTCTAT |
GTCTATTCTAT |
5: 14,764,204 (GRCm39) |
|
probably null |
Het |
| Pclo |
TCTAT |
TCTATACTAT |
5: 14,764,205 (GRCm39) |
|
probably null |
Het |
| Pi4kb |
T |
C |
3: 94,906,387 (GRCm39) |
Y645H |
probably damaging |
Het |
| Pik3r5 |
C |
T |
11: 68,383,528 (GRCm39) |
A449V |
possibly damaging |
Het |
| Plat |
A |
G |
8: 23,261,736 (GRCm39) |
T45A |
probably benign |
Het |
| Platr25 |
T |
C |
13: 62,848,676 (GRCm39) |
K62R |
possibly damaging |
Het |
| Ppp5c |
A |
G |
7: 16,740,111 (GRCm39) |
V410A |
possibly damaging |
Het |
| Prdm2 |
C |
T |
4: 142,861,140 (GRCm39) |
A717T |
probably benign |
Het |
| Pstpip2 |
C |
A |
18: 77,882,422 (GRCm39) |
T2K |
probably benign |
Het |
| Ptpn12 |
A |
C |
5: 21,203,523 (GRCm39) |
S418R |
possibly damaging |
Het |
| Rint1 |
A |
G |
5: 24,010,642 (GRCm39) |
S255G |
probably benign |
Het |
| Rmc1 |
T |
C |
18: 12,322,371 (GRCm39) |
L608P |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,714,776 (GRCm39) |
H1581R |
probably benign |
Het |
| Stau2 |
T |
C |
1: 16,530,577 (GRCm39) |
Y114C |
unknown |
Het |
| Ticam1 |
T |
C |
17: 56,578,067 (GRCm39) |
T343A |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,817,724 (GRCm39) |
K1259E |
possibly damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,013,385 (GRCm39) |
F169I |
probably benign |
Het |
| Vps33a |
T |
C |
5: 123,673,312 (GRCm39) |
K425E |
possibly damaging |
Het |
| Vwa8 |
T |
C |
14: 79,258,089 (GRCm39) |
M746T |
probably benign |
Het |
| Zc3hav1 |
A |
G |
6: 38,313,598 (GRCm39) |
I149T |
possibly damaging |
Het |
| Zfp708 |
A |
T |
13: 67,222,193 (GRCm39) |
D62E |
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 |
|
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 |
|
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'- AATTGGCCTTTTGCATTCCATG -3'
(R):5'- TGTGGCACTTATCGCACTTG -3'
Sequencing Primer
(F):5'- TTCCATGATAAAAACAGCCGACTTGG -3'
(R):5'- CACTTATCGCACTTGGTTGGGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation