Incidental Mutation 'R2413:Dgki'
| ID |
250059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgki
|
| Ensembl Gene |
ENSMUSG00000038665 |
| Gene Name |
diacylglycerol kinase, iota |
| Synonyms |
C130010K08Rik |
| MMRRC Submission |
040377-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2413 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
36822957-37277119 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 36824408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 1040
(R1040L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042075]
[ENSMUST00000090314]
[ENSMUST00000101532]
[ENSMUST00000138286]
[ENSMUST00000150300]
|
| AlphaFold |
D3YWQ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042075
AA Change: R868L
PolyPhen 2
Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000047858
Gene: ENSMUSG00000038665
AA Change: R868L
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
22 |
76 |
3.67e-1 |
SMART |
|
C1
|
95 |
153 |
5.92e-4 |
SMART |
|
DAGKc
|
220 |
344 |
6.73e-58 |
SMART |
|
DAGKa
|
370 |
527 |
2.29e-92 |
SMART |
|
ANK
|
792 |
822 |
5.53e-3 |
SMART |
|
ANK
|
828 |
857 |
2.07e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090314
AA Change: R1019L
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000087788
Gene: ENSMUSG00000038665
AA Change: R1019L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
116 |
N/A |
INTRINSIC |
|
C1
|
173 |
227 |
3.67e-1 |
SMART |
|
C1
|
246 |
304 |
5.92e-4 |
SMART |
|
DAGKc
|
371 |
495 |
6.73e-58 |
SMART |
|
DAGKa
|
521 |
678 |
2.29e-92 |
SMART |
|
ANK
|
943 |
973 |
5.53e-3 |
SMART |
|
ANK
|
979 |
1008 |
2.07e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101532
AA Change: R1040L
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099071
Gene: ENSMUSG00000038665
AA Change: R1040L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
116 |
N/A |
INTRINSIC |
|
C1
|
173 |
227 |
3.67e-1 |
SMART |
|
C1
|
246 |
304 |
5.92e-4 |
SMART |
|
DAGKc
|
371 |
495 |
6.73e-58 |
SMART |
|
DAGKa
|
521 |
678 |
2.29e-92 |
SMART |
|
ANK
|
964 |
994 |
5.53e-3 |
SMART |
|
ANK
|
1000 |
1029 |
2.07e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138286
|
| SMART Domains |
Protein: ENSMUSP00000138628
Gene: ENSMUSG00000038665
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
116 |
N/A |
INTRINSIC |
|
C1
|
173 |
227 |
1.8e-3 |
SMART |
|
C1
|
246 |
304 |
2.9e-6 |
SMART |
|
DAGKc
|
371 |
495 |
3.2e-60 |
SMART |
|
DAGKa
|
521 |
678 |
1.1e-94 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150300
|
| SMART Domains |
Protein: ENSMUSP00000138457
Gene: ENSMUSG00000038665
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
116 |
N/A |
INTRINSIC |
|
C1
|
173 |
227 |
3.67e-1 |
SMART |
|
C1
|
246 |
304 |
5.92e-4 |
SMART |
|
DAGKc
|
371 |
495 |
6.73e-58 |
SMART |
|
DAGKa
|
521 |
591 |
1.43e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the type IV diacylglycerol kinase subfamily. Diacylglycerol kinases regulate the intracellular concentration of diacylglycerol through its phosphorylation, producing phosphatidic acid. The specific role of the enzyme encoded by this gene is undetermined, however, it may play a crucial role in the production of phosphatidic acid in the retina or in recessive forms of retinal degeneration. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are grossly normal and do not develop tumors when wounded or when exposed to phorbol ester. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(8) : Targeted, knock-out(1) Gene trapped(7)
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
G |
T |
8: 89,036,446 (GRCm39) |
A168S |
probably benign |
Het |
| Aspm |
A |
C |
1: 139,405,495 (GRCm39) |
I1461L |
probably damaging |
Het |
| Bcas3 |
C |
T |
11: 85,422,681 (GRCm39) |
L517F |
probably damaging |
Het |
| Brpf3 |
T |
C |
17: 29,024,924 (GRCm39) |
|
probably benign |
Het |
| Cfap74 |
A |
C |
4: 155,503,081 (GRCm39) |
R24S |
possibly damaging |
Het |
| Clec1a |
T |
A |
6: 129,412,218 (GRCm39) |
S51C |
probably damaging |
Het |
| Cyp2c40 |
G |
T |
19: 39,792,331 (GRCm39) |
C204* |
probably null |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,365 (GRCm39) |
Y149* |
probably null |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Frmpd1 |
A |
T |
4: 45,278,969 (GRCm39) |
T565S |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,064,290 (GRCm39) |
|
probably null |
Het |
| Ipcef1 |
G |
A |
10: 6,885,225 (GRCm39) |
P92S |
probably damaging |
Het |
| Kctd12 |
T |
A |
14: 103,219,603 (GRCm39) |
I92F |
probably damaging |
Het |
| Kntc1 |
C |
T |
5: 123,902,212 (GRCm39) |
T285I |
probably benign |
Het |
| Lipo2 |
A |
T |
19: 33,728,657 (GRCm39) |
N32K |
probably damaging |
Het |
| Mier3 |
T |
C |
13: 111,851,662 (GRCm39) |
|
probably benign |
Het |
| Myd88 |
T |
C |
9: 119,166,484 (GRCm39) |
T277A |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,467,924 (GRCm39) |
Y1331N |
probably benign |
Het |
| Neb |
C |
A |
2: 52,100,644 (GRCm39) |
W4422L |
probably damaging |
Het |
| Nfasc |
A |
G |
1: 132,523,243 (GRCm39) |
S1019P |
probably damaging |
Het |
| Npepps |
T |
C |
11: 97,131,792 (GRCm39) |
E354G |
probably damaging |
Het |
| Ntrk2 |
G |
T |
13: 59,022,226 (GRCm39) |
R427L |
possibly damaging |
Het |
| Or51g1 |
A |
G |
7: 102,634,009 (GRCm39) |
S121P |
probably damaging |
Het |
| Ptprd |
T |
A |
4: 76,051,437 (GRCm39) |
D262V |
probably damaging |
Het |
| Serpina9 |
C |
T |
12: 103,967,485 (GRCm39) |
|
probably null |
Het |
| Setd2 |
A |
G |
9: 110,376,572 (GRCm39) |
E129G |
probably damaging |
Het |
| Slc29a1 |
A |
G |
17: 45,896,643 (GRCm39) |
L444P |
probably damaging |
Het |
| Synj2 |
C |
A |
17: 6,078,849 (GRCm39) |
P217T |
probably damaging |
Het |
| Tex52 |
T |
C |
6: 128,356,871 (GRCm39) |
L188P |
probably damaging |
Het |
| Tmem63a |
A |
G |
1: 180,788,640 (GRCm39) |
M326V |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,937,252 (GRCm39) |
T2900A |
probably damaging |
Het |
|
| Other mutations in Dgki |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00923:Dgki
|
APN |
6 |
36,839,391 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00951:Dgki
|
APN |
6 |
36,977,094 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01087:Dgki
|
APN |
6 |
36,989,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01396:Dgki
|
APN |
6 |
36,977,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02113:Dgki
|
APN |
6 |
36,890,560 (GRCm39) |
splice site |
probably benign |
|
|
IGL02174:Dgki
|
APN |
6 |
37,009,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02215:Dgki
|
APN |
6 |
36,993,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02353:Dgki
|
APN |
6 |
36,824,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02360:Dgki
|
APN |
6 |
36,824,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02662:Dgki
|
APN |
6 |
36,839,421 (GRCm39) |
splice site |
probably benign |
|
|
IGL02891:Dgki
|
APN |
6 |
36,890,676 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03040:Dgki
|
APN |
6 |
37,126,599 (GRCm39) |
splice site |
probably benign |
|
|
IGL03064:Dgki
|
APN |
6 |
37,126,599 (GRCm39) |
splice site |
probably benign |
|
|
IGL03283:Dgki
|
APN |
6 |
36,914,246 (GRCm39) |
splice site |
probably benign |
|
|
IGL03349:Dgki
|
APN |
6 |
37,074,562 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
H8477:Dgki
|
UTSW |
6 |
37,006,786 (GRCm39) |
splice site |
probably benign |
|
|
PIT4151001:Dgki
|
UTSW |
6 |
37,040,916 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0392:Dgki
|
UTSW |
6 |
36,977,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0630:Dgki
|
UTSW |
6 |
36,977,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0718:Dgki
|
UTSW |
6 |
36,989,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1420:Dgki
|
UTSW |
6 |
37,027,204 (GRCm39) |
splice site |
probably null |
|
|
R1546:Dgki
|
UTSW |
6 |
37,027,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1634:Dgki
|
UTSW |
6 |
36,892,425 (GRCm39) |
missense |
probably benign |
|
|
R1639:Dgki
|
UTSW |
6 |
36,914,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1738:Dgki
|
UTSW |
6 |
37,034,367 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1750:Dgki
|
UTSW |
6 |
36,893,369 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1808:Dgki
|
UTSW |
6 |
37,126,509 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1834:Dgki
|
UTSW |
6 |
37,011,636 (GRCm39) |
splice site |
probably benign |
|
|
R2001:Dgki
|
UTSW |
6 |
36,842,736 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2047:Dgki
|
UTSW |
6 |
36,890,581 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3034:Dgki
|
UTSW |
6 |
37,064,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4493:Dgki
|
UTSW |
6 |
36,951,796 (GRCm39) |
intron |
probably benign |
|
|
R4684:Dgki
|
UTSW |
6 |
37,276,781 (GRCm39) |
unclassified |
probably benign |
|
|
R4727:Dgki
|
UTSW |
6 |
37,276,748 (GRCm39) |
unclassified |
probably benign |
|
|
R5104:Dgki
|
UTSW |
6 |
37,126,509 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5756:Dgki
|
UTSW |
6 |
36,913,993 (GRCm39) |
intron |
probably benign |
|
|
R6946:Dgki
|
UTSW |
6 |
37,276,571 (GRCm39) |
nonsense |
probably null |
|
|
R8357:Dgki
|
UTSW |
6 |
36,827,891 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8363:Dgki
|
UTSW |
6 |
36,993,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8424:Dgki
|
UTSW |
6 |
36,827,850 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8457:Dgki
|
UTSW |
6 |
36,827,891 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8791:Dgki
|
UTSW |
6 |
36,996,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8880:Dgki
|
UTSW |
6 |
37,011,652 (GRCm39) |
intron |
probably benign |
|
|
R8883:Dgki
|
UTSW |
6 |
36,993,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9000:Dgki
|
UTSW |
6 |
37,074,643 (GRCm39) |
intron |
probably benign |
|
|
R9221:Dgki
|
UTSW |
6 |
37,273,615 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9290:Dgki
|
UTSW |
6 |
37,276,780 (GRCm39) |
missense |
unknown |
|
|
R9320:Dgki
|
UTSW |
6 |
36,892,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9641:Dgki
|
UTSW |
6 |
37,126,489 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9674:Dgki
|
UTSW |
6 |
37,027,157 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9726:Dgki
|
UTSW |
6 |
37,276,858 (GRCm39) |
missense |
unknown |
|
|
X0066:Dgki
|
UTSW |
6 |
37,040,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dgki
|
UTSW |
6 |
36,952,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGCTTCTTCCAGGGGAGC -3'
(R):5'- AGACTCCATGACTCCTTGTTTACTG -3'
Sequencing Primer
(F):5'- AGGTCTTCATGGCCAATG -3'
(R):5'- GACTCCTTGTTTACTGAGATATACCC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation