Incidental Mutation 'R0547:Dgkb'
| ID |
44919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkb
|
| Ensembl Gene |
ENSMUSG00000036095 |
| Gene Name |
diacylglycerol kinase, beta |
| Synonyms |
C630029D13Rik, DGK-beta |
| MMRRC Submission |
038739-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R0547 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
37930169-38684238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38654157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 759
(C759S)
|
| 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: C759S
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: C759S
| 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: C759S
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222132
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222922
|
| Meta Mutation Damage Score |
0.2312 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
98% (57/58) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057N15Rik |
A |
G |
16: 88,570,498 (GRCm39) |
Y181H |
probably benign |
Het |
| A530084C06Rik |
A |
G |
13: 31,742,813 (GRCm39) |
|
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,274,592 (GRCm39) |
D1208G |
probably benign |
Het |
| Ankrd55 |
T |
C |
13: 112,504,757 (GRCm39) |
F501S |
probably benign |
Het |
| Aox1 |
G |
A |
1: 58,349,201 (GRCm39) |
D656N |
probably damaging |
Het |
| Atr |
A |
T |
9: 95,781,218 (GRCm39) |
|
probably benign |
Het |
| Bicra |
G |
A |
7: 15,706,173 (GRCm39) |
R1423W |
probably damaging |
Het |
| Cabyr |
T |
A |
18: 12,884,073 (GRCm39) |
S187T |
probably benign |
Het |
| Car5b |
G |
A |
X: 162,762,297 (GRCm39) |
R282C |
probably damaging |
Het |
| Cdon |
A |
T |
9: 35,368,794 (GRCm39) |
T343S |
possibly damaging |
Het |
| Cep350 |
C |
T |
1: 155,777,181 (GRCm39) |
|
probably null |
Het |
| Cimap1a |
A |
G |
7: 140,428,728 (GRCm39) |
|
probably null |
Het |
| Copa |
T |
C |
1: 171,949,254 (GRCm39) |
|
probably benign |
Het |
| Cyp4f18 |
T |
C |
8: 72,749,854 (GRCm39) |
D265G |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,021,757 (GRCm39) |
M3470V |
probably benign |
Het |
| Eif4g2 |
T |
C |
7: 110,677,500 (GRCm39) |
N177S |
probably damaging |
Het |
| Etfb |
C |
T |
7: 43,104,002 (GRCm39) |
Q145* |
probably null |
Het |
| Flnb |
T |
A |
14: 7,912,943 (GRCm38) |
|
probably null |
Het |
| G430095P16Rik |
G |
A |
8: 85,453,271 (GRCm39) |
|
probably benign |
Het |
| Gfral |
A |
T |
9: 76,115,924 (GRCm39) |
S17T |
probably benign |
Het |
| Gpr26 |
T |
C |
7: 131,586,026 (GRCm39) |
I332T |
probably benign |
Het |
| Greb1 |
T |
A |
12: 16,773,412 (GRCm39) |
T221S |
probably benign |
Het |
| Haus5 |
A |
T |
7: 30,358,508 (GRCm39) |
S289T |
probably damaging |
Het |
| Ighv6-4 |
T |
C |
12: 114,370,221 (GRCm39) |
Y77C |
probably damaging |
Het |
| Il23r |
A |
T |
6: 67,400,685 (GRCm39) |
D548E |
probably benign |
Het |
| Il23r |
A |
T |
6: 67,463,235 (GRCm39) |
F86Y |
possibly damaging |
Het |
| Inppl1 |
A |
T |
7: 101,480,210 (GRCm39) |
M424K |
probably benign |
Het |
| Jam3 |
A |
G |
9: 27,010,184 (GRCm39) |
Y267H |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,510,990 (GRCm39) |
N326S |
unknown |
Het |
| Mms19 |
A |
T |
19: 41,951,857 (GRCm39) |
M160K |
probably damaging |
Het |
| Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
| Mup5 |
A |
G |
4: 61,751,237 (GRCm39) |
L137P |
probably damaging |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Ntrk2 |
G |
A |
13: 59,022,184 (GRCm39) |
S413N |
probably damaging |
Het |
| Nuak2 |
C |
A |
1: 132,259,941 (GRCm39) |
T573N |
probably benign |
Het |
| Or4m1 |
A |
T |
14: 50,557,575 (GRCm39) |
I239K |
probably benign |
Het |
| Or52h9 |
G |
A |
7: 104,202,563 (GRCm39) |
V146M |
probably benign |
Het |
| Padi4 |
GCTGCGTACCTCCAC |
GC |
4: 140,475,760 (GRCm39) |
|
probably benign |
Het |
| Pclo |
T |
A |
5: 14,842,086 (GRCm39) |
I4787N |
unknown |
Het |
| Pde8a |
G |
T |
7: 80,973,878 (GRCm39) |
V612L |
probably benign |
Het |
| Pear1 |
A |
T |
3: 87,696,107 (GRCm39) |
|
probably null |
Het |
| Pgbd1 |
A |
G |
13: 21,607,688 (GRCm39) |
Y169H |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,786,448 (GRCm39) |
|
probably benign |
Het |
| Prkag3 |
C |
T |
1: 74,783,879 (GRCm39) |
|
probably null |
Het |
| Rsph9 |
A |
T |
17: 46,455,050 (GRCm39) |
S9T |
possibly damaging |
Het |
| Rxfp1 |
A |
T |
3: 79,612,876 (GRCm39) |
|
probably null |
Het |
| Senp7 |
A |
G |
16: 55,996,189 (GRCm39) |
E756G |
probably damaging |
Het |
| Serpina1e |
G |
T |
12: 103,915,450 (GRCm39) |
T252K |
probably benign |
Het |
| Sipa1l1 |
T |
A |
12: 82,484,510 (GRCm39) |
S1555T |
probably benign |
Het |
| Slain1 |
T |
C |
14: 103,932,711 (GRCm39) |
S432P |
probably damaging |
Het |
| Slc37a2 |
A |
T |
9: 37,144,418 (GRCm39) |
|
probably null |
Het |
| Thg1l |
C |
T |
11: 45,845,018 (GRCm39) |
R18Q |
probably damaging |
Het |
| Tnn |
A |
G |
1: 159,943,907 (GRCm39) |
|
probably benign |
Het |
| Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
| Tshz3 |
A |
G |
7: 36,470,842 (GRCm39) |
T944A |
probably damaging |
Het |
| Ttn |
C |
G |
2: 76,684,774 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
T |
C |
18: 44,973,331 (GRCm39) |
S323P |
possibly damaging |
Het |
| Zfp827 |
A |
G |
8: 79,786,939 (GRCm39) |
N35S |
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 |
|
|
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'- TGTGACCAAGGAACCTTTCAGTG -3'
(R):5'- GACAGTGCTTCCAAACTGAATG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation