Incidental Mutation 'R0063:Dgkb'
| ID |
43797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkb
|
| Ensembl Gene |
ENSMUSG00000036095 |
| Gene Name |
diacylglycerol kinase, beta |
| Synonyms |
C630029D13Rik, DGK-beta |
| MMRRC Submission |
038355-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R0063 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
37930169-38684238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 38654112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 744
(S744A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040500]
[ENSMUST00000220990]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040500
AA Change: S744A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: S744A
| 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 benign
Transcript: ENSMUST00000220990
AA Change: S744A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222132
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222922
|
| Meta Mutation Damage Score |
0.0590 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.8%
|
| Validation Efficiency |
97% (69/71) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
C |
T |
16: 4,678,912 (GRCm39) |
R245* |
probably null |
Het |
| 4930563I02Rik |
T |
A |
14: 60,333,477 (GRCm39) |
|
probably benign |
Het |
| Acss1 |
T |
C |
2: 150,469,212 (GRCm39) |
T435A |
probably damaging |
Het |
| Aoc2 |
T |
A |
11: 101,216,897 (GRCm39) |
S327T |
probably damaging |
Het |
| Arid5a |
T |
A |
1: 36,357,645 (GRCm39) |
Y252N |
probably damaging |
Het |
| AU040320 |
T |
C |
4: 126,733,465 (GRCm39) |
Y662H |
probably damaging |
Het |
| B4gat1 |
T |
A |
19: 5,089,735 (GRCm39) |
L244* |
probably null |
Het |
| Bcam |
C |
T |
7: 19,500,773 (GRCm39) |
V134I |
probably benign |
Het |
| Btbd16 |
A |
T |
7: 130,424,896 (GRCm39) |
T426S |
probably benign |
Het |
| Btn1a1 |
C |
T |
13: 23,649,267 (GRCm39) |
|
probably null |
Het |
| Cap2 |
T |
C |
13: 46,791,508 (GRCm39) |
|
probably benign |
Het |
| Capn8 |
T |
A |
1: 182,429,677 (GRCm39) |
D299E |
probably damaging |
Het |
| Cdipt |
G |
A |
7: 126,578,772 (GRCm39) |
V160I |
probably benign |
Het |
| Cep164 |
A |
G |
9: 45,679,916 (GRCm39) |
S1267P |
possibly damaging |
Het |
| Cic |
T |
A |
7: 24,986,565 (GRCm39) |
S1299T |
probably damaging |
Het |
| Cic |
C |
A |
7: 24,986,566 (GRCm39) |
S1299Y |
probably damaging |
Het |
| Col3a1 |
T |
C |
1: 45,369,701 (GRCm39) |
|
probably benign |
Het |
| Cyb5r3 |
T |
C |
15: 83,046,137 (GRCm39) |
T60A |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,647,111 (GRCm39) |
|
probably null |
Het |
| Ece1 |
C |
T |
4: 137,675,892 (GRCm39) |
T422M |
probably benign |
Het |
| Ece2 |
A |
G |
16: 20,461,067 (GRCm39) |
T442A |
probably benign |
Het |
| Elapor2 |
T |
C |
5: 9,490,709 (GRCm39) |
|
probably benign |
Het |
| Eml3 |
C |
A |
19: 8,915,842 (GRCm39) |
A644D |
probably damaging |
Het |
| Fbp2 |
A |
T |
13: 63,001,862 (GRCm39) |
F118I |
probably damaging |
Het |
| Foxp1 |
A |
G |
6: 98,921,684 (GRCm39) |
|
probably benign |
Het |
| Gm10801 |
G |
T |
2: 98,494,185 (GRCm39) |
S109I |
probably benign |
Het |
| Il17rd |
G |
A |
14: 26,804,690 (GRCm39) |
C88Y |
probably damaging |
Het |
| Il17rd |
C |
A |
14: 26,804,691 (GRCm39) |
C88* |
probably null |
Het |
| Ino80c |
A |
G |
18: 24,239,681 (GRCm39) |
F160S |
probably damaging |
Het |
| Ints8 |
T |
C |
4: 11,252,857 (GRCm39) |
N75S |
probably damaging |
Het |
| Irf2bp1 |
C |
T |
7: 18,739,772 (GRCm39) |
R471C |
possibly damaging |
Het |
| Irs1 |
T |
A |
1: 82,266,580 (GRCm39) |
E545D |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,661,762 (GRCm39) |
|
probably benign |
Het |
| Mast4 |
C |
A |
13: 103,470,723 (GRCm39) |
|
probably benign |
Het |
| Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
| Nat8f2 |
A |
T |
6: 85,844,815 (GRCm39) |
S182R |
possibly damaging |
Het |
| Nrcam |
G |
T |
12: 44,596,811 (GRCm39) |
V343F |
possibly damaging |
Het |
| Opn5 |
T |
C |
17: 42,907,517 (GRCm39) |
S120G |
probably damaging |
Het |
| Pdk2 |
T |
C |
11: 94,923,306 (GRCm39) |
H106R |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,282,174 (GRCm39) |
T2889I |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,392,633 (GRCm39) |
L1656H |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,327,247 (GRCm39) |
T394S |
probably benign |
Het |
| Pnpla8 |
T |
A |
12: 44,329,615 (GRCm39) |
C56S |
probably damaging |
Het |
| Prdm8 |
G |
T |
5: 98,332,453 (GRCm39) |
R118L |
probably damaging |
Het |
| Prkce |
T |
C |
17: 86,789,539 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,139,763 (GRCm39) |
Y163N |
probably damaging |
Het |
| Rbbp8 |
T |
A |
18: 11,867,614 (GRCm39) |
|
probably benign |
Het |
| Rnh1 |
A |
T |
7: 140,744,109 (GRCm39) |
|
probably null |
Het |
| Rtn4 |
T |
A |
11: 29,655,527 (GRCm39) |
|
probably benign |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Slc2a2 |
T |
C |
3: 28,771,589 (GRCm39) |
M173T |
probably damaging |
Het |
| Slc2a8 |
T |
A |
2: 32,870,011 (GRCm39) |
|
probably null |
Het |
| Tdpoz1 |
A |
T |
3: 93,578,121 (GRCm39) |
M221K |
probably benign |
Het |
| Tgm7 |
G |
T |
2: 120,924,577 (GRCm39) |
H533Q |
probably benign |
Het |
| Timm29 |
C |
A |
9: 21,504,304 (GRCm39) |
A17E |
probably benign |
Het |
| Tmem131 |
C |
T |
1: 36,858,209 (GRCm39) |
V713I |
probably benign |
Het |
| Tmem89 |
A |
G |
9: 108,743,880 (GRCm39) |
N60S |
probably benign |
Het |
| Tpx2 |
A |
G |
2: 152,722,043 (GRCm39) |
T212A |
probably damaging |
Het |
| Trio |
G |
T |
15: 27,881,523 (GRCm39) |
|
probably benign |
Het |
| Tulp2 |
T |
C |
7: 45,170,284 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,244,542 (GRCm39) |
|
probably benign |
Het |
| Vmn2r5 |
T |
A |
3: 64,411,221 (GRCm39) |
E449V |
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,401,656 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,339,427 (GRCm39) |
D556G |
probably damaging |
Het |
| Xrn1 |
T |
C |
9: 95,851,588 (GRCm39) |
L202P |
probably damaging |
Het |
| Zfp354a |
A |
T |
11: 50,960,398 (GRCm39) |
H203L |
probably damaging |
Het |
| Zfp53 |
A |
C |
17: 21,728,367 (GRCm39) |
R133S |
probably benign |
Het |
| Zfp787 |
C |
T |
7: 6,135,322 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- GCAGTGCATGTGGTAGAATCGTCAG -3'
(R):5'- CAGGAGTGGACAGTGCTTCCAAAC -3'
Sequencing Primer
(F):5'- CTTGTGACCAAGGAACCTTTCAG -3'
(R):5'- GACAGTGCTTCCAAACTGAATG -3'
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| Posted On |
2013-05-29 |
Incidental Mutation