Incidental Mutation 'R7251:Dgkb'
| ID |
563941 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkb
|
| Ensembl Gene |
ENSMUSG00000036095 |
| Gene Name |
diacylglycerol kinase, beta |
| Synonyms |
C630029D13Rik, DGK-beta |
| MMRRC Submission |
045313-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R7251 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
37930169-38684238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38031985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 16
(S16P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040500]
[ENSMUST00000220990]
[ENSMUST00000221176]
[ENSMUST00000222337]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040500
AA Change: S16P
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: S16P
| 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 |
possibly damaging
Transcript: ENSMUST00000220990
AA Change: S16P
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221176
AA Change: S16P
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222337
AA Change: S16P
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (66/68) |
| 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 |
|---|
| 4930480E11Rik |
G |
T |
X: 77,414,311 (GRCm39) |
M345I |
probably benign |
Het |
| Adamts19 |
A |
T |
18: 58,970,974 (GRCm39) |
D186V |
probably damaging |
Het |
| Agrn |
T |
C |
4: 156,259,063 (GRCm39) |
D884G |
probably damaging |
Het |
| Akr1c6 |
T |
A |
13: 4,497,019 (GRCm39) |
C154S |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,057,037 (GRCm39) |
Y1840H |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,269,200 (GRCm39) |
E399G |
possibly damaging |
Het |
| Arg2 |
G |
A |
12: 79,197,572 (GRCm39) |
G197S |
probably damaging |
Het |
| Arhgap32 |
T |
C |
9: 32,119,481 (GRCm39) |
V308A |
probably damaging |
Het |
| Atcay |
A |
T |
10: 81,046,366 (GRCm39) |
C319* |
probably null |
Het |
| Bend4 |
C |
G |
5: 67,584,876 (GRCm39) |
R16P |
unknown |
Het |
| Braf |
A |
G |
6: 39,654,504 (GRCm39) |
|
probably null |
Het |
| Camsap1 |
T |
C |
2: 25,828,898 (GRCm39) |
E942G |
probably damaging |
Het |
| Cdpf1 |
C |
T |
15: 85,693,494 (GRCm39) |
G11D |
probably damaging |
Het |
| Cgn |
T |
C |
3: 94,683,509 (GRCm39) |
E382G |
possibly damaging |
Het |
| Cndp1 |
T |
A |
18: 84,640,322 (GRCm39) |
E294D |
probably benign |
Het |
| Cnn1 |
T |
A |
9: 22,019,513 (GRCm39) |
Y294N |
unknown |
Het |
| Cyp2ab1 |
A |
G |
16: 20,134,646 (GRCm39) |
F104S |
possibly damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,857,144 (GRCm39) |
V336M |
possibly damaging |
Het |
| D430041D05Rik |
T |
A |
2: 104,051,511 (GRCm39) |
D782V |
probably damaging |
Het |
| Ddx39b |
A |
G |
17: 35,472,464 (GRCm39) |
*429W |
probably null |
Het |
| Dll4 |
T |
C |
2: 119,162,773 (GRCm39) |
C465R |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,377,524 (GRCm39) |
I1770V |
probably benign |
Het |
| Fbxw11 |
A |
G |
11: 32,681,370 (GRCm39) |
N250S |
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,809,425 (GRCm39) |
V1915M |
possibly damaging |
Het |
| Greb1l |
G |
A |
18: 10,515,319 (GRCm39) |
V704M |
probably damaging |
Het |
| Hgf |
T |
A |
5: 16,798,942 (GRCm39) |
N323K |
possibly damaging |
Het |
| Hhatl |
A |
T |
9: 121,614,116 (GRCm39) |
|
probably null |
Het |
| Hip1r |
T |
C |
5: 124,132,813 (GRCm39) |
S204P |
probably damaging |
Het |
| Igsf10 |
T |
A |
3: 59,226,875 (GRCm39) |
N2266I |
probably damaging |
Het |
| Krtap15-1 |
A |
G |
16: 88,625,982 (GRCm39) |
|
probably null |
Het |
| Lrp1 |
T |
C |
10: 127,408,423 (GRCm39) |
D1751G |
probably damaging |
Het |
| Madd |
A |
T |
2: 90,992,521 (GRCm39) |
D1050E |
probably benign |
Het |
| Man1c1 |
C |
T |
4: 134,308,147 (GRCm39) |
G323R |
probably damaging |
Het |
| Mgll |
A |
G |
6: 88,800,357 (GRCm39) |
E252G |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,278,965 (GRCm39) |
N145S |
possibly damaging |
Het |
| Ncoa2 |
C |
T |
1: 13,218,599 (GRCm39) |
S1410N |
probably benign |
Het |
| Nek10 |
A |
G |
14: 14,853,965 (GRCm38) |
T384A |
probably benign |
Het |
| Nexn |
T |
C |
3: 151,952,832 (GRCm39) |
E310G |
probably damaging |
Het |
| Nol10 |
T |
C |
12: 17,452,108 (GRCm39) |
L354P |
probably damaging |
Het |
| Npy4r |
T |
C |
14: 33,868,872 (GRCm39) |
R139G |
probably damaging |
Het |
| Nup160 |
A |
G |
2: 90,530,518 (GRCm39) |
E463G |
probably damaging |
Het |
| Or14c44 |
T |
C |
7: 86,062,209 (GRCm39) |
V213A |
probably benign |
Het |
| Or52a33 |
C |
T |
7: 103,288,909 (GRCm39) |
G146D |
probably damaging |
Het |
| Or8j3c |
G |
A |
2: 86,253,940 (GRCm39) |
L27F |
probably benign |
Het |
| Pdzd8 |
A |
T |
19: 59,289,077 (GRCm39) |
N774K |
possibly damaging |
Het |
| Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
| Pot1a |
T |
C |
6: 25,752,497 (GRCm39) |
|
probably null |
Het |
| Ppip5k1 |
T |
A |
2: 121,178,052 (GRCm39) |
E283D |
probably benign |
Het |
| Ptpn2 |
A |
C |
18: 67,808,862 (GRCm39) |
I318R |
possibly damaging |
Het |
| Raph1 |
A |
G |
1: 60,529,027 (GRCm39) |
F745L |
unknown |
Het |
| Rgs19 |
C |
T |
2: 181,331,541 (GRCm39) |
V88I |
probably benign |
Het |
| Ripk4 |
A |
G |
16: 97,544,449 (GRCm39) |
S733P |
probably benign |
Het |
| Rprd1b |
T |
A |
2: 157,870,899 (GRCm39) |
W29R |
probably damaging |
Het |
| Rtkn |
A |
G |
6: 83,112,943 (GRCm39) |
N5S |
probably damaging |
Het |
| Sh3bp5l |
A |
T |
11: 58,232,128 (GRCm39) |
Q131L |
probably damaging |
Het |
| Slain2 |
T |
A |
5: 73,131,891 (GRCm39) |
F461I |
possibly damaging |
Het |
| Stk24 |
A |
T |
14: 121,545,434 (GRCm39) |
L108Q |
probably damaging |
Het |
| Syne3 |
TC |
T |
12: 104,927,830 (GRCm39) |
|
probably null |
Het |
| Tapbpl |
A |
T |
6: 125,203,558 (GRCm39) |
V374E |
probably damaging |
Het |
| Tax1bp1 |
A |
G |
6: 52,698,341 (GRCm39) |
I18V |
possibly damaging |
Het |
| Tecta |
T |
A |
9: 42,299,048 (GRCm39) |
I233F |
probably damaging |
Het |
| Tet3 |
A |
G |
6: 83,381,038 (GRCm39) |
S377P |
probably benign |
Het |
| Uty |
A |
G |
Y: 1,154,262 (GRCm39) |
S721P |
probably benign |
Het |
| Wnk4 |
C |
A |
11: 101,155,979 (GRCm39) |
T412K |
possibly damaging |
Het |
| Zdhhc11 |
G |
T |
13: 74,140,216 (GRCm39) |
V336L |
probably benign |
Het |
| Zfp605 |
T |
A |
5: 110,275,826 (GRCm39) |
S315T |
probably damaging |
Het |
| Zfp746 |
A |
G |
6: 48,041,811 (GRCm39) |
L305P |
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 |
|
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'- AGAGTGTGTATTCTGGAAGCC -3'
(R):5'- ACCAGCAATGTTTACCAGGC -3'
Sequencing Primer
(F):5'- GCCAGAGCTATTTCATCATGAAAC -3'
(R):5'- GCTAAAAGGCAATCTTAAAATGACC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation