Incidental Mutation 'R8050:Dgkb'
ID |
619013 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dgkb
|
Ensembl Gene |
ENSMUSG00000036095 |
Gene Name |
diacylglycerol kinase, beta |
Synonyms |
C630029D13Rik, DGK-beta |
MMRRC Submission |
067487-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.130)
|
Stock # |
R8050 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
37930169-38684238 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 38174216 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 181
(E181K)
|
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: E181K
PolyPhen 2
Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000037900 Gene: ENSMUSG00000036095 AA Change: E181K
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: E181K
PolyPhen 2
Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221176
AA Change: E188K
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410002F23Rik |
T |
A |
7: 43,900,677 (GRCm39) |
V194E |
possibly damaging |
Het |
Adgrv1 |
T |
C |
13: 81,561,296 (GRCm39) |
N5406S |
probably damaging |
Het |
Arhgef38 |
T |
A |
3: 132,843,323 (GRCm39) |
R416* |
probably null |
Het |
Asb7 |
T |
A |
7: 66,328,932 (GRCm39) |
Q36L |
probably benign |
Het |
Bbof1 |
G |
A |
12: 84,457,991 (GRCm39) |
M85I |
probably benign |
Het |
Bin1 |
T |
G |
18: 32,539,198 (GRCm39) |
F44V |
probably damaging |
Het |
Bnc2 |
C |
A |
4: 84,210,573 (GRCm39) |
V599L |
probably benign |
Het |
Bnip3l |
A |
G |
14: 67,226,651 (GRCm39) |
S181P |
probably damaging |
Het |
Btnl9 |
A |
G |
11: 49,066,442 (GRCm39) |
L374P |
probably benign |
Het |
Cd109 |
T |
C |
9: 78,571,633 (GRCm39) |
I424T |
probably benign |
Het |
Cdhr2 |
G |
A |
13: 54,882,035 (GRCm39) |
V1162M |
probably damaging |
Het |
Dnase1 |
A |
T |
16: 3,855,861 (GRCm39) |
D64V |
probably damaging |
Het |
E130308A19Rik |
T |
C |
4: 59,719,767 (GRCm39) |
I433T |
probably damaging |
Het |
Ecsit |
C |
T |
9: 21,987,592 (GRCm39) |
R149H |
probably benign |
Het |
Eif1ad8 |
G |
A |
12: 87,563,911 (GRCm39) |
R82Q |
possibly damaging |
Het |
Enpep |
A |
T |
3: 129,099,165 (GRCm39) |
V437E |
probably damaging |
Het |
Esrp1 |
A |
T |
4: 11,338,767 (GRCm39) |
V679D |
probably damaging |
Het |
Fa2h |
T |
A |
8: 112,074,817 (GRCm39) |
|
probably null |
Het |
Fabp1 |
G |
A |
6: 71,176,956 (GRCm39) |
E16K |
probably damaging |
Het |
Fstl5 |
T |
A |
3: 76,614,810 (GRCm39) |
S624T |
probably benign |
Het |
Gemin5 |
G |
A |
11: 58,019,686 (GRCm39) |
R1128W |
probably benign |
Het |
H2bc8 |
T |
C |
13: 23,755,841 (GRCm39) |
S79P |
probably damaging |
Het |
Hps3 |
T |
C |
3: 20,057,492 (GRCm39) |
H896R |
probably benign |
Het |
Hsf1 |
T |
A |
15: 76,382,481 (GRCm39) |
I284K |
probably benign |
Het |
Igkv3-2 |
T |
A |
6: 70,675,988 (GRCm39) |
I99N |
probably damaging |
Het |
Iqub |
T |
A |
6: 24,503,784 (GRCm39) |
I163F |
possibly damaging |
Het |
Jak2 |
T |
C |
19: 29,275,732 (GRCm39) |
I724T |
probably damaging |
Het |
Kbtbd3 |
A |
T |
9: 4,330,408 (GRCm39) |
T261S |
probably benign |
Het |
Kctd20 |
G |
T |
17: 29,171,732 (GRCm39) |
|
probably null |
Het |
Kif28 |
C |
T |
1: 179,537,014 (GRCm39) |
V490M |
probably benign |
Het |
Kif9 |
T |
C |
9: 110,348,208 (GRCm39) |
L677P |
probably damaging |
Het |
Klhl18 |
T |
C |
9: 110,257,829 (GRCm39) |
Y537C |
probably damaging |
Het |
Mmut |
T |
A |
17: 41,254,784 (GRCm39) |
I331K |
probably benign |
Het |
Myo5a |
T |
A |
9: 75,089,228 (GRCm39) |
S1119R |
probably damaging |
Het |
Napepld |
C |
A |
5: 21,870,319 (GRCm39) |
E366D |
probably benign |
Het |
Nbea |
A |
G |
3: 55,895,402 (GRCm39) |
V1540A |
probably damaging |
Het |
Neb |
T |
A |
2: 52,111,738 (GRCm39) |
I130L |
probably benign |
Het |
Opcml |
T |
C |
9: 28,724,640 (GRCm39) |
V146A |
probably damaging |
Het |
Or2g7 |
T |
C |
17: 38,378,370 (GRCm39) |
S103P |
probably damaging |
Het |
Or2r11 |
A |
T |
6: 42,437,764 (GRCm39) |
L63H |
probably damaging |
Het |
Or7e178 |
C |
T |
9: 20,225,941 (GRCm39) |
D92N |
probably damaging |
Het |
Pappa2 |
A |
C |
1: 158,675,970 (GRCm39) |
C925W |
probably damaging |
Het |
Parp12 |
T |
A |
6: 39,066,038 (GRCm39) |
N562Y |
probably damaging |
Het |
Patj |
C |
A |
4: 98,427,201 (GRCm39) |
H1198Q |
probably benign |
Het |
Pcyox1 |
T |
A |
6: 86,366,128 (GRCm39) |
K362M |
possibly damaging |
Het |
Pcyt2 |
T |
C |
11: 120,501,765 (GRCm39) |
Y350C |
probably benign |
Het |
Pkd1 |
A |
T |
17: 24,784,617 (GRCm39) |
T388S |
probably benign |
Het |
Prl3d1 |
T |
A |
13: 27,284,011 (GRCm39) |
Y193* |
probably null |
Het |
Psme1 |
A |
T |
14: 55,817,056 (GRCm39) |
D15V |
possibly damaging |
Het |
Qrsl1 |
G |
A |
10: 43,750,631 (GRCm39) |
R476C |
probably damaging |
Het |
Ranbp2 |
A |
G |
10: 58,315,441 (GRCm39) |
N2054D |
probably damaging |
Het |
Serpinb1c |
T |
A |
13: 33,066,052 (GRCm39) |
K298* |
probably null |
Het |
Slc22a27 |
A |
T |
19: 7,857,532 (GRCm39) |
M355K |
probably benign |
Het |
Spp1 |
T |
A |
5: 104,588,280 (GRCm39) |
H227Q |
probably benign |
Het |
Stam2 |
T |
A |
2: 52,609,785 (GRCm39) |
N75I |
probably damaging |
Het |
Tacc1 |
T |
C |
8: 25,659,230 (GRCm39) |
T579A |
probably benign |
Het |
Tbx3 |
A |
G |
5: 119,821,132 (GRCm39) |
D734G |
probably benign |
Het |
Tmem233 |
G |
T |
5: 116,221,141 (GRCm39) |
S35* |
probably null |
Het |
Trim43c |
A |
T |
9: 88,722,390 (GRCm39) |
E12V |
probably damaging |
Het |
Trio |
A |
G |
15: 27,891,540 (GRCm39) |
S463P |
unknown |
Het |
Uggt2 |
A |
T |
14: 119,263,834 (GRCm39) |
D1065E |
probably damaging |
Het |
Usp1 |
A |
G |
4: 98,817,150 (GRCm39) |
N114S |
probably benign |
Het |
Usp34 |
A |
G |
11: 23,396,787 (GRCm39) |
E2377G |
|
Het |
Virma |
T |
A |
4: 11,528,643 (GRCm39) |
H1243Q |
probably benign |
Het |
Vmn2r3 |
A |
T |
3: 64,178,714 (GRCm39) |
V517D |
probably damaging |
Het |
Zfp931 |
T |
C |
2: 177,709,889 (GRCm39) |
K166E |
probably damaging |
Het |
Zp3 |
T |
A |
5: 136,011,604 (GRCm39) |
Y141N |
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 |
|
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 |
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'- GTTAGGCTACACTTTCACACAC -3'
(R):5'- CAACTTGACCTTTGGTTAGCC -3'
Sequencing Primer
(F):5'- TCTCTTGTACACTCTGAAAAACAATG -3'
(R):5'- TGACCTTTGGTTAGCCATAATAATTG -3'
|
Posted On |
2020-01-23 |