Incidental Mutation 'IGL03155:Dgkb'
| ID |
411238 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dgkb
|
| Ensembl Gene |
ENSMUSG00000036095 |
| Gene Name |
diacylglycerol kinase, beta |
| Synonyms |
C630029D13Rik, DGK-beta |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
IGL03155
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
37930169-38684238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38189458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 287
(I287N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152378
(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: I287N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037900
Gene: ENSMUSG00000036095
AA Change: I287N
| 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 damaging
Transcript: ENSMUST00000220990
AA Change: I287N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221098
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221176
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221540
|
| Coding Region Coverage |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra1d |
C |
T |
2: 131,388,001 (GRCm39) |
R518H |
probably benign |
Het |
| Akr7a5 |
T |
A |
4: 139,041,837 (GRCm39) |
C190* |
probably null |
Het |
| Cct2 |
A |
T |
10: 116,896,576 (GRCm39) |
L209Q |
probably damaging |
Het |
| Chordc1 |
T |
A |
9: 18,215,616 (GRCm39) |
S123T |
possibly damaging |
Het |
| Crtap |
T |
C |
9: 114,209,117 (GRCm39) |
D309G |
possibly damaging |
Het |
| Csf2 |
T |
C |
11: 54,138,497 (GRCm39) |
T115A |
possibly damaging |
Het |
| Dyrk1b |
G |
A |
7: 27,882,112 (GRCm39) |
D98N |
probably benign |
Het |
| Eif4g1 |
T |
C |
16: 20,511,167 (GRCm39) |
S1550P |
probably damaging |
Het |
| Fam83e |
A |
G |
7: 45,376,499 (GRCm39) |
E404G |
possibly damaging |
Het |
| Fryl |
G |
A |
5: 73,234,038 (GRCm39) |
P1496S |
probably benign |
Het |
| Fsip1 |
A |
T |
2: 118,082,220 (GRCm39) |
N71K |
probably benign |
Het |
| Gm5092 |
A |
T |
17: 21,314,970 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1l |
T |
A |
16: 18,359,282 (GRCm39) |
|
probably null |
Het |
| Got1l1 |
T |
C |
8: 27,689,360 (GRCm39) |
Y233C |
probably damaging |
Het |
| Katnbl1 |
T |
A |
2: 112,239,577 (GRCm39) |
|
probably null |
Het |
| Kcnn2 |
A |
G |
18: 45,818,382 (GRCm39) |
E493G |
probably damaging |
Het |
| Kif26b |
C |
T |
1: 178,701,693 (GRCm39) |
R691W |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,285,796 (GRCm39) |
|
probably benign |
Het |
| Mast3 |
A |
G |
8: 71,241,861 (GRCm39) |
S107P |
probably damaging |
Het |
| Mrc1 |
A |
G |
2: 14,335,912 (GRCm39) |
N1433D |
probably benign |
Het |
| Mycbp2 |
G |
A |
14: 103,392,889 (GRCm39) |
S3114L |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,452,932 (GRCm39) |
H43L |
possibly damaging |
Het |
| Nin |
A |
T |
12: 70,078,544 (GRCm39) |
C1681S |
probably damaging |
Het |
| Nnmt |
C |
T |
9: 48,503,352 (GRCm39) |
V225M |
probably damaging |
Het |
| Or2ag1b |
A |
T |
7: 106,288,446 (GRCm39) |
M164K |
probably damaging |
Het |
| Or4c125 |
A |
T |
2: 89,170,310 (GRCm39) |
M112K |
probably damaging |
Het |
| Phf21a |
T |
G |
2: 92,150,611 (GRCm39) |
V64G |
probably damaging |
Het |
| Ptprd |
A |
T |
4: 75,984,456 (GRCm39) |
S800R |
possibly damaging |
Het |
| Scarf2 |
C |
T |
16: 17,625,413 (GRCm39) |
P823S |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,341,248 (GRCm39) |
T1212A |
possibly damaging |
Het |
| Slc38a10 |
C |
T |
11: 119,995,945 (GRCm39) |
V1043I |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,692,034 (GRCm39) |
L370Q |
probably null |
Het |
| Tas1r2 |
T |
C |
4: 139,396,467 (GRCm39) |
V602A |
possibly damaging |
Het |
| Tatdn1 |
T |
C |
15: 58,788,045 (GRCm39) |
|
probably benign |
Het |
| Tdrd6 |
A |
T |
17: 43,936,398 (GRCm39) |
L1550Q |
probably damaging |
Het |
| Tet3 |
G |
T |
6: 83,345,365 (GRCm39) |
R1556S |
probably damaging |
Het |
| Tnpo2 |
T |
A |
8: 85,771,709 (GRCm39) |
I249N |
probably benign |
Het |
| Tnxb |
G |
T |
17: 34,932,569 (GRCm39) |
V2263F |
probably damaging |
Het |
| Trim75 |
C |
T |
8: 65,435,992 (GRCm39) |
V153M |
possibly damaging |
Het |
| Ttc21a |
T |
A |
9: 119,773,042 (GRCm39) |
|
probably null |
Het |
| Tuft1 |
T |
A |
3: 94,541,821 (GRCm39) |
I61L |
possibly damaging |
Het |
| Usp43 |
T |
C |
11: 67,767,315 (GRCm39) |
D680G |
probably damaging |
Het |
| Vac14 |
A |
G |
8: 111,362,975 (GRCm39) |
I274V |
possibly damaging |
Het |
| Vmn1r222 |
T |
A |
13: 23,416,863 (GRCm39) |
R117W |
probably damaging |
Het |
| Vmn1r83 |
T |
C |
7: 12,055,617 (GRCm39) |
M147V |
probably benign |
Het |
| Vmn2r43 |
T |
A |
7: 8,258,068 (GRCm39) |
I382L |
possibly damaging |
Het |
| Vmn2r63 |
C |
T |
7: 42,552,878 (GRCm39) |
V793I |
probably damaging |
Het |
| Vopp1 |
A |
G |
6: 57,739,492 (GRCm39) |
Y19H |
possibly damaging |
Het |
| Yeats2 |
T |
C |
16: 20,048,323 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation