Incidental Mutation 'R8103:Dgkb'
| ID |
630599 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkb
|
| Ensembl Gene |
ENSMUSG00000036095 |
| Gene Name |
diacylglycerol kinase, beta |
| Synonyms |
C630029D13Rik, DGK-beta |
| MMRRC Submission |
067534-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R8103 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
37930169-38684238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38186580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 243
(H243R)
|
| 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: H243R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: H243R
| 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: H243R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221176
AA Change: H250R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.2315 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.7%
- 20x: 95.4%
|
| Validation Efficiency |
100% (83/83) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,903,668 (GRCm39) |
D216G |
probably benign |
Het |
| Abcg5 |
A |
T |
17: 84,965,956 (GRCm39) |
I640K |
possibly damaging |
Het |
| Acadvl |
T |
C |
11: 69,905,168 (GRCm39) |
K128R |
probably benign |
Het |
| Angptl7 |
T |
A |
4: 148,581,018 (GRCm39) |
N259I |
probably damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,586,997 (GRCm39) |
K104R |
possibly damaging |
Het |
| Antxr1 |
T |
C |
6: 87,165,198 (GRCm39) |
N413S |
probably damaging |
Het |
| Arhgap26 |
A |
G |
18: 39,504,177 (GRCm39) |
T376A |
|
Het |
| Atf6b |
T |
G |
17: 34,872,949 (GRCm39) |
S622A |
probably damaging |
Het |
| Atp5pd |
T |
A |
11: 115,306,851 (GRCm39) |
Y115F |
possibly damaging |
Het |
| Axin2 |
T |
C |
11: 108,822,369 (GRCm39) |
L307P |
probably damaging |
Het |
| B4galnt4 |
C |
T |
7: 140,644,564 (GRCm39) |
T153M |
possibly damaging |
Het |
| Brd8 |
A |
G |
18: 34,740,231 (GRCm39) |
V604A |
probably benign |
Het |
| Ccser2 |
T |
C |
14: 36,618,240 (GRCm39) |
Y765C |
probably damaging |
Het |
| Cdh26 |
A |
G |
2: 178,110,006 (GRCm39) |
D433G |
probably damaging |
Het |
| Cep85l |
T |
G |
10: 53,175,420 (GRCm39) |
|
probably null |
Het |
| Ciao3 |
A |
G |
17: 25,996,395 (GRCm39) |
T135A |
probably benign |
Het |
| Col23a1 |
T |
A |
11: 51,461,014 (GRCm39) |
|
probably null |
Het |
| Col7a1 |
A |
G |
9: 108,804,452 (GRCm39) |
D2261G |
unknown |
Het |
| Comp |
C |
A |
8: 70,833,936 (GRCm39) |
N650K |
probably damaging |
Het |
| Copb1 |
A |
G |
7: 113,834,202 (GRCm39) |
M476T |
possibly damaging |
Het |
| Dapk1 |
T |
A |
13: 60,897,009 (GRCm39) |
S743T |
probably damaging |
Het |
| Ddx39a |
A |
G |
8: 84,451,105 (GRCm39) |
|
probably null |
Het |
| Dsg1c |
T |
G |
18: 20,416,171 (GRCm39) |
Y691D |
probably damaging |
Het |
| Duox2 |
C |
T |
2: 122,117,535 (GRCm39) |
S933N |
probably benign |
Het |
| Ece1 |
T |
C |
4: 137,641,133 (GRCm39) |
S19P |
probably benign |
Het |
| Edem1 |
G |
A |
6: 108,829,524 (GRCm39) |
E548K |
probably damaging |
Het |
| Eif4a3l2 |
C |
T |
6: 116,528,468 (GRCm39) |
T115I |
probably damaging |
Het |
| Fpr-rs6 |
A |
G |
17: 20,402,839 (GRCm39) |
V174A |
possibly damaging |
Het |
| Fyco1 |
A |
T |
9: 123,658,453 (GRCm39) |
N574K |
probably benign |
Het |
| Glb1l2 |
T |
A |
9: 26,676,980 (GRCm39) |
M551L |
probably benign |
Het |
| Gm7694 |
G |
T |
1: 170,130,284 (GRCm39) |
P38Q |
probably damaging |
Het |
| Grip1 |
A |
G |
10: 119,814,440 (GRCm39) |
T324A |
probably benign |
Het |
| Htr3b |
A |
G |
9: 48,857,849 (GRCm39) |
V131A |
possibly damaging |
Het |
| Igfbp1 |
T |
C |
11: 7,148,106 (GRCm39) |
C50R |
probably damaging |
Het |
| Il5ra |
A |
G |
6: 106,692,611 (GRCm39) |
I378T |
possibly damaging |
Het |
| Ints11 |
T |
C |
4: 155,972,687 (GRCm39) |
L504P |
possibly damaging |
Het |
| Iqca1 |
A |
T |
1: 89,987,330 (GRCm39) |
I74N |
|
Het |
| Kbtbd12 |
C |
T |
6: 88,595,663 (GRCm39) |
A56T |
probably damaging |
Het |
| Kcnq5 |
T |
C |
1: 21,549,620 (GRCm39) |
N369S |
possibly damaging |
Het |
| Kmt5b |
A |
G |
19: 3,865,381 (GRCm39) |
D815G |
probably benign |
Het |
| Lnpk |
T |
C |
2: 74,352,599 (GRCm39) |
Q361R |
probably benign |
Het |
| Mep1b |
T |
C |
18: 21,222,442 (GRCm39) |
I277T |
possibly damaging |
Het |
| Naip6 |
G |
A |
13: 100,437,851 (GRCm39) |
T385I |
probably benign |
Het |
| Npepl1 |
A |
T |
2: 173,953,002 (GRCm39) |
I95F |
probably benign |
Het |
| Nxpe4 |
T |
C |
9: 48,304,020 (GRCm39) |
F36L |
probably benign |
Het |
| Optn |
C |
A |
2: 5,045,013 (GRCm39) |
C243F |
probably damaging |
Het |
| Or10al7 |
A |
T |
17: 38,365,903 (GRCm39) |
C185S |
probably damaging |
Het |
| Or1e33 |
C |
T |
11: 73,738,735 (GRCm39) |
C72Y |
probably damaging |
Het |
| Paqr7 |
T |
C |
4: 134,234,821 (GRCm39) |
V226A |
probably benign |
Het |
| Pcdh12 |
T |
A |
18: 38,415,212 (GRCm39) |
I638F |
probably damaging |
Het |
| Pfas |
T |
C |
11: 68,883,119 (GRCm39) |
T722A |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,270,981 (GRCm39) |
I3191F |
probably damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,706,944 (GRCm39) |
H531L |
probably benign |
Het |
| Pom121l2 |
A |
G |
13: 22,166,544 (GRCm39) |
T272A |
probably benign |
Het |
| Pparg |
T |
C |
6: 115,450,102 (GRCm39) |
V367A |
possibly damaging |
Het |
| Psen2 |
A |
T |
1: 180,068,356 (GRCm39) |
M99K |
probably damaging |
Het |
| Ranbp10 |
T |
C |
8: 106,499,179 (GRCm39) |
T536A |
probably benign |
Het |
| Rbfox2 |
G |
T |
15: 76,983,654 (GRCm39) |
P284T |
probably damaging |
Het |
| Rbmyf9 |
C |
T |
Y: 3,776,675 (GRCm39) |
T104I |
possibly damaging |
Het |
| Rere |
G |
A |
4: 150,701,796 (GRCm39) |
R25H |
probably damaging |
Het |
| Rhpn1 |
T |
A |
15: 75,581,115 (GRCm39) |
L119Q |
probably null |
Het |
| Rlig1 |
C |
A |
10: 100,413,110 (GRCm39) |
V178F |
probably benign |
Het |
| Rreb1 |
A |
G |
13: 38,125,677 (GRCm39) |
T1328A |
probably benign |
Het |
| Septin11 |
A |
T |
5: 93,309,007 (GRCm39) |
|
probably null |
Het |
| Skida1 |
T |
A |
2: 18,052,549 (GRCm39) |
Q201L |
probably benign |
Het |
| Sptan1 |
T |
A |
2: 29,910,055 (GRCm39) |
I1805N |
probably damaging |
Het |
| Stard13 |
T |
A |
5: 150,970,435 (GRCm39) |
Q853L |
possibly damaging |
Het |
| Susd1 |
T |
A |
4: 59,365,916 (GRCm39) |
|
probably null |
Het |
| Szt2 |
T |
A |
4: 118,245,061 (GRCm39) |
Q1158H |
possibly damaging |
Het |
| Tbcc |
A |
C |
17: 47,202,046 (GRCm39) |
D144A |
probably benign |
Het |
| Tsn |
A |
G |
1: 118,232,437 (GRCm39) |
I146T |
probably benign |
Het |
| Umad1 |
A |
T |
6: 8,427,121 (GRCm39) |
T99S |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,805,777 (GRCm39) |
E3261V |
probably damaging |
Het |
| Vcan |
C |
A |
13: 89,851,439 (GRCm39) |
E1174* |
probably null |
Het |
| Vmn2r100 |
C |
A |
17: 19,751,415 (GRCm39) |
|
probably null |
Het |
| Vmn2r65 |
A |
G |
7: 84,595,919 (GRCm39) |
I255T |
probably damaging |
Het |
| Vps35l |
T |
C |
7: 118,342,855 (GRCm39) |
S47P |
probably benign |
Het |
| Wdr70 |
A |
G |
15: 8,006,612 (GRCm39) |
L313P |
possibly damaging |
Het |
| Ythdf2 |
C |
A |
4: 131,932,089 (GRCm39) |
R357L |
probably damaging |
Het |
| Zfp523 |
T |
C |
17: 28,420,267 (GRCm39) |
C262R |
probably damaging |
Het |
| Zfp553 |
T |
C |
7: 126,835,936 (GRCm39) |
V497A |
probably benign |
Het |
| Zhx1 |
A |
G |
15: 57,916,662 (GRCm39) |
L528S |
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 |
|
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 |
|
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'- TGGCACTCTTGTACTGGAGAG -3'
(R):5'- CCTGAACATTGAGCAGCTACAG -3'
Sequencing Primer
(F):5'- CACTCTTGTACTGGAGAGAGCCAAG -3'
(R):5'- ACAATAAGCATTTTGGCCTGGG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation