Incidental Mutation 'R5813:Dgkz'
| ID |
447597 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5813 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
91763169-91806209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91769733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 615
(D615G)
|
| 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: D421G
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000028667
Gene: ENSMUSG00000040479
AA Change: D421G
| 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: D438G
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000106937
Gene: ENSMUSG00000040479
AA Change: D438G
| 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: D615G
PolyPhen 2
Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106934
Gene: ENSMUSG00000040479
AA Change: D615G
| 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: ENSMUST00000130023
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148297
|
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
A |
G |
3: 89,253,135 (GRCm39) |
Y230H |
probably benign |
Het |
| Ano7 |
G |
T |
1: 93,312,641 (GRCm39) |
|
probably null |
Het |
| Arap2 |
T |
C |
5: 62,834,506 (GRCm39) |
Y792C |
probably damaging |
Het |
| Art3 |
C |
A |
5: 92,560,100 (GRCm39) |
|
probably benign |
Het |
| Atad2 |
C |
T |
15: 57,963,250 (GRCm39) |
G1085D |
probably benign |
Het |
| Birc6 |
C |
A |
17: 74,953,497 (GRCm39) |
A3253E |
probably damaging |
Het |
| C9 |
C |
T |
15: 6,526,607 (GRCm39) |
P547L |
probably benign |
Het |
| Cecr2 |
T |
C |
6: 120,739,169 (GRCm39) |
S1271P |
probably damaging |
Het |
| Ces1e |
T |
A |
8: 93,948,305 (GRCm39) |
K105* |
probably null |
Het |
| Cpsf4 |
A |
G |
5: 145,115,683 (GRCm39) |
N204S |
probably benign |
Het |
| Cracd |
A |
G |
5: 77,006,275 (GRCm39) |
T879A |
unknown |
Het |
| Disp1 |
G |
T |
1: 182,869,974 (GRCm39) |
N815K |
probably damaging |
Het |
| Enah |
A |
G |
1: 181,758,750 (GRCm39) |
|
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,800,919 (GRCm39) |
T1322A |
possibly damaging |
Het |
| Frem1 |
A |
G |
4: 82,918,395 (GRCm39) |
F516L |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,323,136 (GRCm39) |
A1096T |
probably damaging |
Het |
| Fyco1 |
T |
C |
9: 123,660,413 (GRCm39) |
Y190C |
probably damaging |
Het |
| Gfra1 |
T |
C |
19: 58,227,687 (GRCm39) |
D417G |
probably benign |
Het |
| Gigyf2 |
T |
C |
1: 87,368,485 (GRCm39) |
I1055T |
probably damaging |
Het |
| Invs |
A |
G |
4: 48,398,146 (GRCm39) |
E444G |
probably damaging |
Het |
| Itga10 |
A |
G |
3: 96,559,901 (GRCm39) |
T519A |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kdm2b |
A |
G |
5: 123,009,931 (GRCm39) |
S727P |
probably benign |
Het |
| Kidins220 |
A |
T |
12: 25,107,139 (GRCm39) |
K1531* |
probably null |
Het |
| Ksr1 |
C |
T |
11: 78,929,024 (GRCm39) |
V266M |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lipi |
T |
C |
16: 75,370,798 (GRCm39) |
R140G |
possibly damaging |
Het |
| Lrrc32 |
T |
C |
7: 98,147,618 (GRCm39) |
S133P |
probably damaging |
Het |
| Map3k7 |
T |
A |
4: 31,964,318 (GRCm39) |
I19N |
probably damaging |
Het |
| Marf1 |
A |
G |
16: 13,970,449 (GRCm39) |
V90A |
probably benign |
Het |
| Mark3 |
T |
C |
12: 111,621,877 (GRCm39) |
L673P |
probably damaging |
Het |
| Meis1 |
T |
C |
11: 18,966,229 (GRCm39) |
H48R |
probably benign |
Het |
| Mettl26 |
G |
A |
17: 26,094,995 (GRCm39) |
V87M |
probably damaging |
Het |
| Mknk2 |
T |
C |
10: 80,511,696 (GRCm39) |
R5G |
probably benign |
Het |
| Mtcl3 |
G |
T |
10: 29,026,240 (GRCm39) |
V441F |
probably damaging |
Het |
| Mterf1b |
T |
C |
5: 4,246,956 (GRCm39) |
V199A |
possibly damaging |
Het |
| Ncs1 |
T |
A |
2: 31,170,666 (GRCm39) |
|
probably null |
Het |
| Nek10 |
T |
C |
14: 14,986,704 (GRCm38) |
V1014A |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,042,744 (GRCm39) |
N1370D |
probably benign |
Het |
| Nr2e3 |
TCCATCGGAGTGTTCCC |
TC |
9: 59,850,701 (GRCm39) |
|
probably benign |
Het |
| Opn5 |
C |
G |
17: 42,903,897 (GRCm39) |
R146T |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or5m3 |
T |
C |
2: 85,838,636 (GRCm39) |
I172T |
probably damaging |
Het |
| Or8b55 |
T |
A |
9: 38,726,952 (GRCm39) |
M51K |
probably benign |
Het |
| Or8g33 |
A |
G |
9: 39,338,032 (GRCm39) |
C112R |
probably damaging |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Pcyox1l |
C |
T |
18: 61,832,359 (GRCm39) |
|
probably null |
Het |
| Plxnb2 |
T |
C |
15: 89,044,962 (GRCm39) |
T1128A |
possibly damaging |
Het |
| Prex1 |
T |
C |
2: 166,425,127 (GRCm39) |
T960A |
probably benign |
Het |
| Prkaa2 |
A |
C |
4: 104,893,291 (GRCm39) |
*553G |
probably null |
Het |
| Rasgrp4 |
A |
G |
7: 28,844,639 (GRCm39) |
D297G |
probably damaging |
Het |
| Sdf4 |
G |
A |
4: 156,083,856 (GRCm39) |
V109I |
probably benign |
Het |
| Serpinb3d |
T |
C |
1: 107,007,027 (GRCm39) |
K227R |
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,398,822 (GRCm39) |
I750N |
probably damaging |
Het |
| Shtn1 |
T |
A |
19: 59,020,673 (GRCm39) |
K183M |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,303,852 (GRCm39) |
T1257A |
probably benign |
Het |
| Slc22a30 |
T |
C |
19: 8,381,945 (GRCm39) |
T109A |
probably benign |
Het |
| Slco1c1 |
A |
G |
6: 141,487,929 (GRCm39) |
D99G |
probably damaging |
Het |
| Tcf25 |
T |
A |
8: 124,122,354 (GRCm39) |
|
probably null |
Het |
| Tex10 |
A |
G |
4: 48,452,928 (GRCm39) |
V677A |
probably benign |
Het |
| Tmem131l |
A |
G |
3: 83,847,879 (GRCm39) |
S329P |
probably benign |
Het |
| Trappc10 |
T |
A |
10: 78,058,573 (GRCm39) |
N136I |
probably damaging |
Het |
| Trpt1 |
T |
C |
19: 6,975,906 (GRCm39) |
F173L |
probably benign |
Het |
| Ube4b |
G |
A |
4: 149,421,925 (GRCm39) |
R955C |
probably damaging |
Het |
| Usp34 |
C |
A |
11: 23,371,340 (GRCm39) |
P1840T |
probably benign |
Het |
| Vmn1r27 |
A |
T |
6: 58,192,985 (GRCm39) |
N6K |
possibly damaging |
Het |
| Wdr25 |
T |
C |
12: 108,993,347 (GRCm39) |
V521A |
possibly damaging |
Het |
| Wdr64 |
G |
A |
1: 175,639,623 (GRCm39) |
E1031K |
possibly damaging |
Het |
| Wnt10a |
A |
G |
1: 74,839,755 (GRCm39) |
N147S |
probably damaging |
Het |
| Zbed5 |
T |
C |
5: 129,931,059 (GRCm39) |
I336T |
possibly damaging |
Het |
| Zfp758 |
T |
A |
17: 22,594,796 (GRCm39) |
H427Q |
probably damaging |
Het |
| Zfp961 |
C |
A |
8: 72,722,070 (GRCm39) |
H194Q |
probably 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 |
|
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 |
|
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 |
PCR Primer
(F):5'- TTCTCCTGGGATAGAAAGAGGC -3'
(R):5'- GGACCAGCTGCGCTTAAAAC -3'
Sequencing Primer
(F):5'- GAATGTGAAGAACTAGAAACTCACC -3'
(R):5'- TCTGGGCACTGGCAATGAC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation