Incidental Mutation 'IGL02247:Dgkz'
| ID |
286244 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dgkz
|
| Ensembl Gene |
ENSMUSG00000040479 |
| Gene Name |
diacylglycerol kinase zeta |
| Synonyms |
mDGK[z], E130307B02Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02247
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
91763169-91806209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91767805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 824
(S824G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106934
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028667]
[ENSMUST00000099709]
[ENSMUST00000111303]
[ENSMUST00000128152]
[ENSMUST00000142231]
[ENSMUST00000142090]
|
| AlphaFold |
Q80UP3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028667
AA Change: S630G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000028667
Gene: ENSMUSG00000040479
AA Change: S630G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
75 |
N/A |
INTRINSIC |
|
C1
|
96 |
153 |
2.67e-1 |
SMART |
|
C1
|
173 |
231 |
8.18e-7 |
SMART |
|
low complexity region
|
257 |
274 |
N/A |
INTRINSIC |
|
DAGKc
|
296 |
420 |
4.61e-65 |
SMART |
|
DAGKa
|
447 |
604 |
2.75e-95 |
SMART |
|
low complexity region
|
762 |
780 |
N/A |
INTRINSIC |
|
ANK
|
823 |
853 |
8.52e-4 |
SMART |
|
ANK
|
858 |
887 |
2.18e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099709
AA Change: S647G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106937
Gene: ENSMUSG00000040479
AA Change: S647G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
92 |
N/A |
INTRINSIC |
|
C1
|
113 |
170 |
2.67e-1 |
SMART |
|
C1
|
190 |
248 |
8.18e-7 |
SMART |
|
low complexity region
|
274 |
291 |
N/A |
INTRINSIC |
|
DAGKc
|
313 |
437 |
4.61e-65 |
SMART |
|
DAGKa
|
464 |
621 |
2.75e-95 |
SMART |
|
low complexity region
|
779 |
797 |
N/A |
INTRINSIC |
|
ANK
|
840 |
870 |
8.52e-4 |
SMART |
|
ANK
|
875 |
904 |
2.18e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111303
AA Change: S824G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000106934
Gene: ENSMUSG00000040479
AA Change: S824G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
133 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
269 |
N/A |
INTRINSIC |
|
C1
|
290 |
347 |
2.67e-1 |
SMART |
|
C1
|
367 |
425 |
8.18e-7 |
SMART |
|
low complexity region
|
451 |
468 |
N/A |
INTRINSIC |
|
DAGKc
|
490 |
614 |
4.61e-65 |
SMART |
|
DAGKa
|
641 |
798 |
2.75e-95 |
SMART |
|
low complexity region
|
956 |
974 |
N/A |
INTRINSIC |
|
ANK
|
1017 |
1047 |
8.52e-4 |
SMART |
|
ANK
|
1052 |
1081 |
2.18e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126473
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128152
|
| SMART Domains |
Protein: ENSMUSP00000118684
Gene: ENSMUSG00000040479
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
41 |
N/A |
INTRINSIC |
|
Blast:C1
|
62 |
114 |
9e-33 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128902
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134103
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130023
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138894
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142231
|
| SMART Domains |
Protein: ENSMUSP00000114740
Gene: ENSMUSG00000040479
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142090
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It may attenuate protein kinase C activity by regulating diacylglycerol levels in intracellular signaling cascade and signal transduction. Alternative splicing occurs at this locus and multiple transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2010]
PHENOTYPE: The T cell response is enhanced in homozygous mutant mice, which showed a robust response to viral infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
A |
G |
2: 26,974,905 (GRCm39) |
R177G |
probably damaging |
Het |
| Ap3b1 |
T |
C |
13: 94,531,303 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
A |
C |
10: 50,526,686 (GRCm39) |
K595T |
probably damaging |
Het |
| Cnpy4 |
A |
G |
5: 138,191,125 (GRCm39) |
T234A |
probably benign |
Het |
| Col13a1 |
T |
C |
10: 61,797,124 (GRCm39) |
Y101C |
probably damaging |
Het |
| Crybg3 |
A |
G |
16: 59,323,513 (GRCm39) |
I2809T |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dsg1c |
T |
A |
18: 20,397,373 (GRCm39) |
I27N |
probably damaging |
Het |
| Efhb |
C |
T |
17: 53,708,652 (GRCm39) |
V673I |
probably benign |
Het |
| Egr1 |
T |
C |
18: 34,995,916 (GRCm39) |
Y233H |
possibly damaging |
Het |
| Fam184a |
T |
C |
10: 53,551,256 (GRCm39) |
E237G |
probably damaging |
Het |
| Galt |
A |
G |
4: 41,755,623 (GRCm39) |
|
probably benign |
Het |
| Gm4795 |
T |
C |
10: 44,883,211 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6563 |
G |
A |
19: 23,653,392 (GRCm39) |
E61K |
possibly damaging |
Het |
| Igkv1-133 |
G |
A |
6: 67,702,590 (GRCm39) |
V103M |
probably damaging |
Het |
| Iqcb1 |
T |
A |
16: 36,660,258 (GRCm39) |
H140Q |
probably benign |
Het |
| Itpk1 |
G |
T |
12: 102,589,668 (GRCm39) |
P74Q |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,317,153 (GRCm39) |
W803R |
probably damaging |
Het |
| Lgr4 |
A |
T |
2: 109,832,846 (GRCm39) |
D312V |
probably benign |
Het |
| Lgr4 |
C |
T |
2: 109,838,420 (GRCm39) |
|
probably benign |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Mllt6 |
C |
A |
11: 97,561,158 (GRCm39) |
A282E |
probably benign |
Het |
| Mtif2 |
T |
C |
11: 29,490,642 (GRCm39) |
S449P |
possibly damaging |
Het |
| Nrg3 |
T |
C |
14: 38,093,269 (GRCm39) |
I533M |
probably damaging |
Het |
| Nynrin |
C |
T |
14: 56,109,167 (GRCm39) |
Q1425* |
probably null |
Het |
| Or12e13 |
A |
G |
2: 87,663,873 (GRCm39) |
I163M |
probably damaging |
Het |
| Or1e1f |
A |
T |
11: 73,855,688 (GRCm39) |
M85L |
probably benign |
Het |
| Or4n4b |
T |
A |
14: 50,536,571 (GRCm39) |
N65I |
probably damaging |
Het |
| Or4p22 |
C |
T |
2: 88,317,771 (GRCm39) |
H232Y |
probably benign |
Het |
| Or56a3 |
T |
A |
7: 104,735,530 (GRCm39) |
Y202* |
probably null |
Het |
| Or5b3 |
T |
A |
19: 13,388,831 (GRCm39) |
S299R |
probably benign |
Het |
| Or7e175 |
G |
A |
9: 20,048,516 (GRCm39) |
V35I |
probably benign |
Het |
| Plcb4 |
C |
T |
2: 135,836,245 (GRCm39) |
T20I |
possibly damaging |
Het |
| Ppp1r12b |
G |
T |
1: 134,763,721 (GRCm39) |
T771K |
probably benign |
Het |
| Prss22 |
T |
C |
17: 24,215,363 (GRCm39) |
T138A |
probably benign |
Het |
| Ros1 |
A |
T |
10: 52,005,677 (GRCm39) |
S907T |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,993,134 (GRCm39) |
Y521* |
probably null |
Het |
| Sacs |
T |
C |
14: 61,429,984 (GRCm39) |
F678S |
probably damaging |
Het |
| Smtnl1 |
A |
T |
2: 84,647,372 (GRCm39) |
|
probably benign |
Het |
| Sumf2 |
T |
C |
5: 129,888,986 (GRCm39) |
V258A |
probably damaging |
Het |
| Tas1r2 |
A |
T |
4: 139,396,827 (GRCm39) |
Y722F |
probably damaging |
Het |
| Tecpr1 |
A |
G |
5: 144,143,372 (GRCm39) |
F668L |
possibly damaging |
Het |
| Timd4 |
T |
C |
11: 46,706,558 (GRCm39) |
F120S |
probably damaging |
Het |
| Tnnt3 |
T |
C |
7: 142,062,062 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
G |
A |
2: 121,067,070 (GRCm39) |
S552F |
probably damaging |
Het |
| Txlnb |
G |
A |
10: 17,706,090 (GRCm39) |
R333Q |
possibly damaging |
Het |
| Txlnb |
A |
G |
10: 17,717,276 (GRCm39) |
|
probably benign |
Het |
| Uroc1 |
A |
G |
6: 90,324,910 (GRCm39) |
E461G |
probably benign |
Het |
| Vps45 |
G |
A |
3: 95,950,236 (GRCm39) |
T231I |
probably damaging |
Het |
| Zfp648 |
T |
A |
1: 154,079,923 (GRCm39) |
S27R |
probably benign |
Het |
|
| Other mutations in Dgkz |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01680:Dgkz
|
APN |
2 |
91,766,210 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01995:Dgkz
|
APN |
2 |
91,764,395 (GRCm39) |
splice site |
probably benign |
|
|
IGL02573:Dgkz
|
APN |
2 |
91,764,542 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02627:Dgkz
|
APN |
2 |
91,769,055 (GRCm39) |
splice site |
probably benign |
|
|
IGL02903:Dgkz
|
APN |
2 |
91,770,307 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
IGL03106:Dgkz
|
APN |
2 |
91,771,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0103:Dgkz
|
UTSW |
2 |
91,764,550 (GRCm39) |
missense |
probably benign |
|
|
R0312:Dgkz
|
UTSW |
2 |
91,768,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0761:Dgkz
|
UTSW |
2 |
91,775,696 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0839:Dgkz
|
UTSW |
2 |
91,765,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1162:Dgkz
|
UTSW |
2 |
91,774,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1223:Dgkz
|
UTSW |
2 |
91,769,660 (GRCm39) |
splice site |
probably benign |
|
|
R1539:Dgkz
|
UTSW |
2 |
91,768,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1934:Dgkz
|
UTSW |
2 |
91,767,449 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1936:Dgkz
|
UTSW |
2 |
91,768,323 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3438:Dgkz
|
UTSW |
2 |
91,764,395 (GRCm39) |
splice site |
probably benign |
|
|
R3804:Dgkz
|
UTSW |
2 |
91,769,975 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4675:Dgkz
|
UTSW |
2 |
91,768,691 (GRCm39) |
nonsense |
probably null |
|
|
R4731:Dgkz
|
UTSW |
2 |
91,768,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Dgkz
|
UTSW |
2 |
91,768,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Dgkz
|
UTSW |
2 |
91,768,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4901:Dgkz
|
UTSW |
2 |
91,767,076 (GRCm39) |
missense |
probably benign |
|
|
R4972:Dgkz
|
UTSW |
2 |
91,776,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5027:Dgkz
|
UTSW |
2 |
91,775,888 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5128:Dgkz
|
UTSW |
2 |
91,773,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5408:Dgkz
|
UTSW |
2 |
91,766,168 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5494:Dgkz
|
UTSW |
2 |
91,771,394 (GRCm39) |
splice site |
probably null |
|
|
R5728:Dgkz
|
UTSW |
2 |
91,776,132 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5813:Dgkz
|
UTSW |
2 |
91,769,733 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6025:Dgkz
|
UTSW |
2 |
91,776,255 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6043:Dgkz
|
UTSW |
2 |
91,766,234 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6328:Dgkz
|
UTSW |
2 |
91,772,980 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6335:Dgkz
|
UTSW |
2 |
91,774,724 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7381:Dgkz
|
UTSW |
2 |
91,775,180 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7541:Dgkz
|
UTSW |
2 |
91,773,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7560:Dgkz
|
UTSW |
2 |
91,773,160 (GRCm39) |
unclassified |
probably benign |
|
|
R7608:Dgkz
|
UTSW |
2 |
91,764,399 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7624:Dgkz
|
UTSW |
2 |
91,773,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7709:Dgkz
|
UTSW |
2 |
91,767,404 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7938:Dgkz
|
UTSW |
2 |
91,795,817 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8183:Dgkz
|
UTSW |
2 |
91,769,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8233:Dgkz
|
UTSW |
2 |
91,769,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8415:Dgkz
|
UTSW |
2 |
91,770,649 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8416:Dgkz
|
UTSW |
2 |
91,770,649 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8757:Dgkz
|
UTSW |
2 |
91,775,922 (GRCm39) |
missense |
probably benign |
|
|
R8759:Dgkz
|
UTSW |
2 |
91,775,922 (GRCm39) |
missense |
probably benign |
|
|
R8930:Dgkz
|
UTSW |
2 |
91,769,915 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8932:Dgkz
|
UTSW |
2 |
91,769,915 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9005:Dgkz
|
UTSW |
2 |
91,769,090 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9120:Dgkz
|
UTSW |
2 |
91,768,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9205:Dgkz
|
UTSW |
2 |
91,764,144 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9719:Dgkz
|
UTSW |
2 |
91,768,911 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
RF001:Dgkz
|
UTSW |
2 |
91,770,286 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
X0002:Dgkz
|
UTSW |
2 |
91,766,907 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0021:Dgkz
|
UTSW |
2 |
91,767,464 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1177:Dgkz
|
UTSW |
2 |
91,772,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation