Incidental Mutation 'R7342:Dgkb'
| ID |
569953 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkb
|
| Ensembl Gene |
ENSMUSG00000036095 |
| Gene Name |
diacylglycerol kinase, beta |
| Synonyms |
C630029D13Rik, DGK-beta |
| MMRRC Submission |
045432-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R7342 (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 38150432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 73
(T73A)
|
| 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 benign
Transcript: ENSMUST00000040500
AA Change: T73A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: T73A
| 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: T73A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221176
AA Change: T80A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
T |
G |
11: 101,308,018 (GRCm39) |
T28P |
probably benign |
Het |
| Abcc1 |
C |
A |
16: 14,283,033 (GRCm39) |
R1170S |
probably damaging |
Het |
| Adam8 |
T |
C |
7: 139,566,304 (GRCm39) |
N568S |
probably benign |
Het |
| Arhgap17 |
T |
C |
7: 122,926,467 (GRCm39) |
R65G |
probably damaging |
Het |
| Arid4b |
A |
C |
13: 14,310,804 (GRCm39) |
I136L |
probably benign |
Het |
| Ash1l |
G |
T |
3: 88,873,304 (GRCm39) |
G29V |
possibly damaging |
Het |
| Atp6v0a2 |
A |
G |
5: 124,784,676 (GRCm39) |
T320A |
probably damaging |
Het |
| B4gat1 |
G |
A |
19: 5,089,686 (GRCm39) |
V228M |
probably benign |
Het |
| Calcr |
T |
A |
6: 3,691,536 (GRCm39) |
H450L |
probably benign |
Het |
| Cand1 |
A |
T |
10: 119,047,692 (GRCm39) |
N599K |
possibly damaging |
Het |
| Cblif |
A |
T |
19: 11,740,587 (GRCm39) |
H407L |
probably benign |
Het |
| Cel |
A |
T |
2: 28,450,649 (GRCm39) |
Y125* |
probably null |
Het |
| Cfi |
T |
A |
3: 129,668,781 (GRCm39) |
N602K |
probably damaging |
Het |
| Clstn1 |
G |
A |
4: 149,713,887 (GRCm39) |
A190T |
probably damaging |
Het |
| Cmklr1 |
C |
T |
5: 113,752,354 (GRCm39) |
V216M |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 115,987,852 (GRCm39) |
T128A |
probably benign |
Het |
| Creld2 |
A |
G |
15: 88,710,610 (GRCm39) |
T342A |
probably benign |
Het |
| Ctbp2 |
T |
C |
7: 132,616,041 (GRCm39) |
E298G |
probably damaging |
Het |
| Ctsh |
A |
T |
9: 89,957,040 (GRCm39) |
E307V |
probably benign |
Het |
| Cxcl10 |
T |
A |
5: 92,496,029 (GRCm39) |
D36V |
probably benign |
Het |
| Dnah3 |
T |
G |
7: 119,629,208 (GRCm39) |
E1449A |
probably damaging |
Het |
| Dpp6 |
T |
C |
5: 27,919,552 (GRCm39) |
M683T |
probably benign |
Het |
| Foxn4 |
C |
A |
5: 114,396,760 (GRCm39) |
W241L |
probably damaging |
Het |
| Gosr1 |
T |
C |
11: 76,621,033 (GRCm39) |
I219V |
probably benign |
Het |
| Gtf2f2 |
T |
C |
14: 76,144,317 (GRCm39) |
D179G |
probably damaging |
Het |
| Ighg2b |
A |
G |
12: 113,270,050 (GRCm39) |
Y323H |
|
Het |
| Itpr2 |
A |
T |
6: 146,228,685 (GRCm39) |
H1303Q |
probably damaging |
Het |
| Kif1b |
A |
C |
4: 149,298,547 (GRCm39) |
Y1040D |
possibly damaging |
Het |
| Lbr |
C |
T |
1: 181,653,186 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
A |
G |
2: 69,309,634 (GRCm39) |
V2755A |
possibly damaging |
Het |
| Lrp6 |
G |
T |
6: 134,427,781 (GRCm39) |
P1604T |
probably damaging |
Het |
| Lrrcc1 |
T |
A |
3: 14,619,431 (GRCm39) |
C606S |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,275,917 (GRCm39) |
E6217G |
probably damaging |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Myo9b |
T |
C |
8: 71,808,418 (GRCm39) |
V1687A |
probably damaging |
Het |
| Naip2 |
A |
T |
13: 100,325,864 (GRCm39) |
F15I |
probably benign |
Het |
| Neb |
A |
T |
2: 52,171,679 (GRCm39) |
S1605T |
probably damaging |
Het |
| Nuak1 |
T |
C |
10: 84,210,831 (GRCm39) |
E419G |
probably damaging |
Het |
| Or14a260 |
G |
A |
7: 85,985,295 (GRCm39) |
T103I |
probably benign |
Het |
| Or8c18 |
A |
G |
9: 38,203,574 (GRCm39) |
Y111C |
probably damaging |
Het |
| Paip2b |
T |
A |
6: 83,791,808 (GRCm39) |
S25C |
probably damaging |
Het |
| Pgbd5 |
G |
A |
8: 125,160,709 (GRCm39) |
R53C |
probably benign |
Het |
| Plin4 |
T |
C |
17: 56,411,608 (GRCm39) |
T808A |
probably benign |
Het |
| Pramel11 |
A |
T |
4: 143,623,520 (GRCm39) |
I218K |
probably benign |
Het |
| Prex2 |
A |
G |
1: 11,232,549 (GRCm39) |
D872G |
probably benign |
Het |
| Ptf1a |
A |
G |
2: 19,451,977 (GRCm39) |
*325W |
probably null |
Het |
| Ptprg |
T |
C |
14: 12,237,151 (GRCm38) |
V1390A |
possibly damaging |
Het |
| Rhpn2 |
A |
G |
7: 35,033,771 (GRCm39) |
T2A |
probably damaging |
Het |
| Rpl18a |
T |
C |
8: 71,348,042 (GRCm39) |
N214D |
unknown |
Het |
| Scp2 |
T |
A |
4: 107,948,518 (GRCm39) |
Y197F |
probably benign |
Het |
| Sftpb |
G |
A |
6: 72,286,858 (GRCm39) |
R254H |
probably benign |
Het |
| Slc17a9 |
T |
C |
2: 180,378,555 (GRCm39) |
L246P |
probably damaging |
Het |
| Slc38a9 |
G |
T |
13: 112,806,125 (GRCm39) |
|
probably benign |
Het |
| Slc4a1ap |
C |
T |
5: 31,693,634 (GRCm39) |
L523F |
possibly damaging |
Het |
| Spats2l |
C |
A |
1: 57,925,106 (GRCm39) |
T168K |
possibly damaging |
Het |
| Sstr1 |
A |
G |
12: 58,260,456 (GRCm39) |
S360G |
possibly damaging |
Het |
| Taf1b |
A |
T |
12: 24,608,343 (GRCm39) |
K581* |
probably null |
Het |
| Tfip11 |
T |
A |
5: 112,475,838 (GRCm39) |
M1K |
probably null |
Het |
| Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,551,583 (GRCm39) |
H48Y |
probably benign |
Het |
| Uggt2 |
T |
A |
14: 119,232,384 (GRCm39) |
H1489L |
possibly damaging |
Het |
| Unc13b |
T |
C |
4: 43,258,703 (GRCm39) |
L1346P |
probably damaging |
Het |
| Vmac |
T |
C |
17: 57,022,644 (GRCm39) |
E122G |
probably benign |
Het |
| Vmn2r125 |
T |
C |
4: 156,703,138 (GRCm39) |
V172A |
probably damaging |
Het |
| Zfp54 |
A |
G |
17: 21,648,014 (GRCm39) |
|
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 |
|
|
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'- AACCACTAAGCCTTGGCTTC -3'
(R):5'- CCATGTAGACACACAGACAATTTTC -3'
Sequencing Primer
(F):5'- GCTTCATCTTTCTTTTGTAGACTTGG -3'
(R):5'- CACAGACAATTTTCAACCAAATGTTC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation