Incidental Mutation 'R1162:Dgkz'
ID |
100444 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dgkz
|
Ensembl Gene |
ENSMUSG00000040479 |
Gene Name |
diacylglycerol kinase zeta |
Synonyms |
mDGK[z], E130307B02Rik |
MMRRC Submission |
039235-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1162 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
91763169-91806209 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 91774789 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 65
(I65N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118684
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028667]
[ENSMUST00000099709]
[ENSMUST00000111303]
[ENSMUST00000128152]
[ENSMUST00000142090]
[ENSMUST00000142231]
[ENSMUST00000178895]
|
AlphaFold |
Q80UP3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028667
AA Change: I99N
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000028667 Gene: ENSMUSG00000040479 AA Change: I99N
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 |
possibly damaging
Transcript: ENSMUST00000099709
AA Change: I116N
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000106937 Gene: ENSMUSG00000040479 AA Change: I116N
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 |
possibly damaging
Transcript: ENSMUST00000111303
AA Change: I293N
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000106934 Gene: ENSMUSG00000040479 AA Change: I293N
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: ENSMUST00000126473
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000128152
AA Change: I65N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118684 Gene: ENSMUSG00000040479 AA Change: I65N
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
41 |
N/A |
INTRINSIC |
Blast:C1
|
62 |
114 |
9e-33 |
BLAST |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000142090
AA Change: S76T
|
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 |
noncoding transcript
Transcript: ENSMUST00000183498
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178895
|
Meta Mutation Damage Score |
0.3089 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.9%
|
Validation Efficiency |
98% (55/56) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430015G10Rik |
T |
C |
4: 156,206,875 (GRCm39) |
|
probably null |
Het |
Adamts12 |
T |
A |
15: 11,277,544 (GRCm39) |
|
probably null |
Het |
Ccn3 |
T |
A |
15: 54,611,178 (GRCm39) |
C104* |
probably null |
Het |
Cops4 |
T |
C |
5: 100,678,023 (GRCm39) |
|
probably benign |
Het |
Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
Dgkh |
A |
G |
14: 78,861,891 (GRCm39) |
C125R |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,546,559 (GRCm39) |
H743L |
possibly damaging |
Het |
Dscaml1 |
T |
C |
9: 45,663,647 (GRCm39) |
|
probably benign |
Het |
Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
Gbe1 |
A |
T |
16: 70,178,738 (GRCm39) |
|
probably benign |
Het |
Gm7275 |
A |
G |
16: 47,894,395 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch1 |
A |
G |
7: 35,002,905 (GRCm39) |
|
probably benign |
Het |
Gpr137c |
A |
G |
14: 45,481,615 (GRCm39) |
I144V |
possibly damaging |
Het |
Igsf9b |
T |
C |
9: 27,238,185 (GRCm39) |
S563P |
probably benign |
Het |
Insl5 |
C |
T |
4: 102,875,438 (GRCm39) |
R104Q |
probably benign |
Het |
Kcnj2 |
T |
A |
11: 110,963,793 (GRCm39) |
V395D |
probably benign |
Het |
Ksr2 |
A |
G |
5: 117,693,020 (GRCm39) |
|
probably benign |
Het |
Lrrc4 |
C |
A |
6: 28,831,083 (GRCm39) |
L177F |
probably damaging |
Het |
Mapkbp1 |
A |
G |
2: 119,855,799 (GRCm39) |
E1506G |
possibly damaging |
Het |
Morc3 |
A |
C |
16: 93,649,996 (GRCm39) |
Y259S |
probably damaging |
Het |
Mrpl43 |
T |
G |
19: 44,994,797 (GRCm39) |
S13R |
possibly damaging |
Het |
Myh4 |
A |
G |
11: 67,149,439 (GRCm39) |
N1724D |
probably damaging |
Het |
Nab1 |
A |
G |
1: 52,529,186 (GRCm39) |
M237T |
probably damaging |
Het |
Nav2 |
A |
G |
7: 49,185,788 (GRCm39) |
|
probably benign |
Het |
Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Or2h15 |
A |
T |
17: 38,441,984 (GRCm39) |
V33D |
possibly damaging |
Het |
Or5ac15 |
T |
C |
16: 58,939,735 (GRCm39) |
R233G |
probably damaging |
Het |
Or5p80 |
A |
G |
7: 108,230,120 (GRCm39) |
N307S |
probably benign |
Het |
Phf2 |
A |
T |
13: 48,973,117 (GRCm39) |
|
probably benign |
Het |
Ppef2 |
A |
C |
5: 92,400,980 (GRCm39) |
F13L |
probably benign |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Sap130 |
C |
T |
18: 31,781,226 (GRCm39) |
P130S |
probably damaging |
Het |
Scn11a |
A |
G |
9: 119,634,710 (GRCm39) |
|
probably benign |
Het |
Sec31b |
C |
A |
19: 44,506,087 (GRCm39) |
E940* |
probably null |
Het |
Sgce |
A |
G |
6: 4,691,419 (GRCm39) |
|
probably benign |
Het |
Sh3glb2 |
A |
T |
2: 30,240,600 (GRCm39) |
I155N |
probably damaging |
Het |
Sirt2 |
A |
T |
7: 28,485,247 (GRCm39) |
D218V |
probably damaging |
Het |
Slc16a10 |
T |
C |
10: 39,952,549 (GRCm39) |
H315R |
probably benign |
Het |
Sox5 |
A |
G |
6: 143,906,538 (GRCm39) |
Y306H |
probably damaging |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Tab2 |
A |
G |
10: 7,800,483 (GRCm39) |
V23A |
probably damaging |
Het |
Trak1 |
G |
T |
9: 121,282,407 (GRCm39) |
V429F |
possibly damaging |
Het |
Trat1 |
T |
C |
16: 48,560,572 (GRCm39) |
S102G |
possibly damaging |
Het |
Trub1 |
G |
A |
19: 57,461,191 (GRCm39) |
V156I |
probably benign |
Het |
Tspan32 |
T |
A |
7: 142,560,735 (GRCm39) |
M61K |
probably damaging |
Het |
Unc13a |
T |
A |
8: 72,100,561 (GRCm39) |
T1076S |
probably benign |
Het |
Vangl2 |
A |
G |
1: 171,832,414 (GRCm39) |
Y481H |
probably damaging |
Het |
Vmn2r105 |
C |
T |
17: 20,447,973 (GRCm39) |
E284K |
probably benign |
Het |
Vmn2r60 |
A |
T |
7: 41,845,195 (GRCm39) |
I853F |
probably benign |
Het |
Yrdc |
T |
C |
4: 124,748,254 (GRCm39) |
|
probably benign |
Het |
Zfp595 |
A |
T |
13: 67,465,259 (GRCm39) |
C335S |
probably damaging |
Het |
Zfp872 |
A |
G |
9: 22,110,910 (GRCm39) |
S149G |
possibly damaging |
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 |
|
IGL02247:Dgkz
|
APN |
2 |
91,767,805 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2014-01-15 |