Incidental Mutation 'R6198:Dgkb'
| ID |
503055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkb
|
| Ensembl Gene |
ENSMUSG00000036095 |
| Gene Name |
diacylglycerol kinase, beta |
| Synonyms |
C630029D13Rik, DGK-beta |
| MMRRC Submission |
044338-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R6198 (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 T
at 38223822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 414
(M414L)
|
| 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: M414L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: M414L
| 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 |
noncoding transcript
Transcript: ENSMUST00000220606
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220990
AA Change: M414L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221098
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221540
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (68/69) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,210,499 (GRCm39) |
|
probably null |
Het |
| 2610318N02Rik |
A |
G |
16: 16,936,233 (GRCm39) |
S164P |
probably damaging |
Het |
| Acsbg3 |
A |
G |
17: 57,189,679 (GRCm39) |
S265G |
probably damaging |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adam19 |
A |
C |
11: 46,012,329 (GRCm39) |
N275T |
probably damaging |
Het |
| Adgrg7 |
T |
A |
16: 56,597,556 (GRCm39) |
T84S |
possibly damaging |
Het |
| Asl |
C |
T |
5: 130,047,757 (GRCm39) |
V70I |
probably benign |
Het |
| Atp2c1 |
A |
G |
9: 105,398,271 (GRCm39) |
S26P |
probably benign |
Het |
| Bcas3 |
A |
T |
11: 85,400,261 (GRCm39) |
D410V |
probably damaging |
Het |
| Cc2d1b |
C |
T |
4: 108,490,422 (GRCm39) |
R825W |
probably damaging |
Het |
| Ccdc15 |
A |
C |
9: 37,225,581 (GRCm39) |
|
probably null |
Het |
| Cfh |
A |
G |
1: 140,033,178 (GRCm39) |
S789P |
probably damaging |
Het |
| Cltc |
T |
C |
11: 86,611,188 (GRCm39) |
N561S |
probably benign |
Het |
| Cnst |
A |
G |
1: 179,420,430 (GRCm39) |
Q187R |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 48,177,273 (GRCm39) |
T422A |
probably benign |
Het |
| Cyp2c55 |
A |
T |
19: 38,995,565 (GRCm39) |
R26* |
probably null |
Het |
| Dgkd |
A |
G |
1: 87,851,930 (GRCm39) |
D444G |
probably damaging |
Het |
| Dipk1b |
A |
G |
2: 26,525,710 (GRCm39) |
K215E |
probably damaging |
Het |
| Dnmt3c |
T |
C |
2: 153,561,929 (GRCm39) |
V544A |
noncoding transcript |
Het |
| Dus3l |
A |
T |
17: 57,074,858 (GRCm39) |
T327S |
possibly damaging |
Het |
| Elf2 |
A |
T |
3: 51,184,670 (GRCm39) |
L5Q |
probably damaging |
Het |
| Fxyd6 |
A |
G |
9: 45,301,968 (GRCm39) |
Y30C |
probably damaging |
Het |
| Gcc2 |
A |
T |
10: 58,128,412 (GRCm39) |
T1375S |
probably benign |
Het |
| Git2 |
A |
T |
5: 114,883,556 (GRCm39) |
Y393* |
probably null |
Het |
| Gm14403 |
AAACCCTA |
AA |
2: 177,201,448 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
T |
C |
16: 36,713,757 (GRCm39) |
L246P |
probably damaging |
Het |
| Grp |
G |
T |
18: 66,013,057 (GRCm39) |
Q74H |
possibly damaging |
Het |
| Ifi203 |
A |
T |
1: 173,751,648 (GRCm39) |
M391K |
probably damaging |
Het |
| Itih2 |
A |
G |
2: 10,103,352 (GRCm39) |
Y712H |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,415,958 (GRCm39) |
V1626E |
probably benign |
Het |
| Klhl40 |
A |
G |
9: 121,607,833 (GRCm39) |
Y331C |
probably damaging |
Het |
| Kprp |
T |
A |
3: 92,731,994 (GRCm39) |
Y352F |
probably damaging |
Het |
| Lama2 |
G |
T |
10: 27,064,018 (GRCm39) |
H1286Q |
probably damaging |
Het |
| Lgi4 |
T |
A |
7: 30,768,547 (GRCm39) |
|
probably null |
Het |
| Lrrc47 |
A |
T |
4: 154,100,129 (GRCm39) |
N235I |
probably damaging |
Het |
| Lrrc74b |
T |
A |
16: 17,366,650 (GRCm39) |
I308F |
probably damaging |
Het |
| Map7d1 |
T |
A |
4: 126,135,636 (GRCm39) |
K135M |
probably damaging |
Het |
| Marchf5 |
A |
G |
19: 37,188,140 (GRCm39) |
R36G |
probably damaging |
Het |
| Mtx3 |
C |
A |
13: 92,989,359 (GRCm39) |
P299Q |
probably benign |
Het |
| Muc21 |
T |
A |
17: 35,931,808 (GRCm39) |
|
probably benign |
Het |
| Ncapd2 |
C |
A |
6: 125,156,286 (GRCm39) |
E500* |
probably null |
Het |
| Nckap5l |
T |
C |
15: 99,323,869 (GRCm39) |
K878R |
probably damaging |
Het |
| Nphs1 |
T |
C |
7: 30,167,340 (GRCm39) |
I756T |
probably damaging |
Het |
| Olfm4 |
T |
G |
14: 80,237,813 (GRCm39) |
S17A |
probably benign |
Het |
| Or1j15 |
A |
G |
2: 36,458,963 (GRCm39) |
M118V |
probably damaging |
Het |
| Or4b1 |
A |
T |
2: 89,979,782 (GRCm39) |
D189E |
probably damaging |
Het |
| Pak1ip1 |
G |
T |
13: 41,154,886 (GRCm39) |
Q27H |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,290,281 (GRCm39) |
C159* |
probably null |
Het |
| Pkn2 |
G |
T |
3: 142,516,165 (GRCm39) |
T538K |
probably benign |
Het |
| Ppp3cc |
A |
T |
14: 70,485,060 (GRCm39) |
M198K |
probably benign |
Het |
| Rrm1 |
T |
G |
7: 102,095,936 (GRCm39) |
|
probably null |
Het |
| Setd3 |
T |
C |
12: 108,131,427 (GRCm39) |
K7E |
possibly damaging |
Het |
| Shc1 |
A |
G |
3: 89,329,414 (GRCm39) |
K86R |
probably benign |
Het |
| Slc16a7 |
T |
C |
10: 125,064,084 (GRCm39) |
T418A |
probably benign |
Het |
| Spocd1 |
C |
T |
4: 129,849,208 (GRCm39) |
P676S |
probably damaging |
Het |
| Spp1 |
A |
G |
5: 104,587,374 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
G |
10: 5,252,269 (GRCm39) |
Y2462H |
probably damaging |
Het |
| Tiam2 |
T |
C |
17: 3,464,396 (GRCm39) |
S42P |
probably benign |
Het |
| Tmem63b |
C |
T |
17: 45,972,442 (GRCm39) |
V722I |
probably benign |
Het |
| Ubqln1 |
A |
G |
13: 58,344,404 (GRCm39) |
S130P |
probably benign |
Het |
| Usp34 |
G |
T |
11: 23,434,127 (GRCm39) |
L3215F |
probably damaging |
Het |
| Uvssa |
A |
G |
5: 33,566,854 (GRCm39) |
Y517C |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,875,560 (GRCm39) |
F1649Y |
probably benign |
Het |
| Zfp236 |
A |
G |
18: 82,675,278 (GRCm39) |
S405P |
probably damaging |
Het |
| Zfp9 |
T |
C |
6: 118,454,282 (GRCm39) |
M1V |
probably null |
Het |
| Zfp946 |
A |
T |
17: 22,673,896 (GRCm39) |
S217C |
probably damaging |
Het |
| Zfp970 |
T |
A |
2: 177,167,253 (GRCm39) |
C276S |
probably damaging |
Het |
| Zswim5 |
T |
A |
4: 116,735,204 (GRCm39) |
F183Y |
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 |
|
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'- TGGGCCTCAGTTTATAATCTTAGAG -3'
(R):5'- GACCCATACAAAGTTTGTGCATG -3'
Sequencing Primer
(F):5'- AAGACTTCCTCTAACAACCATTTCTG -3'
(R):5'- AGTTTGTGCATGTATGTAAGTGAAC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation