Incidental Mutation 'R8415:Dgkz'
| ID |
652869 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkz
|
| Ensembl Gene |
ENSMUSG00000040479 |
| Gene Name |
diacylglycerol kinase zeta |
| Synonyms |
mDGK[z], E130307B02Rik |
| MMRRC Submission |
067769-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8415 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
91763169-91806209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 91770649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 485
(S485T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106934
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028667]
[ENSMUST00000099709]
[ENSMUST00000111303]
[ENSMUST00000128152]
[ENSMUST00000142090]
[ENSMUST00000142231]
|
| AlphaFold |
Q80UP3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028667
AA Change: S291T
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000028667
Gene: ENSMUSG00000040479
AA Change: S291T
| 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: S308T
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106937
Gene: ENSMUSG00000040479
AA Change: S308T
| 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: S485T
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106934
Gene: ENSMUSG00000040479
AA Change: S485T
| 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 |
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 |
probably benign
Transcript: ENSMUST00000142090
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd24 |
A |
G |
10: 81,475,947 (GRCm39) |
H317R |
unknown |
Het |
| Aox1 |
A |
T |
1: 58,080,638 (GRCm39) |
Y29F |
probably damaging |
Het |
| Bnip2 |
T |
C |
9: 69,910,967 (GRCm39) |
F304S |
possibly damaging |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Ccdc18 |
T |
A |
5: 108,363,899 (GRCm39) |
V1198E |
probably damaging |
Het |
| Cnot3 |
T |
C |
7: 3,661,687 (GRCm39) |
F660L |
probably benign |
Het |
| Cntnap3 |
A |
G |
13: 64,886,479 (GRCm39) |
I1249T |
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 63,339,909 (GRCm39) |
I32V |
probably benign |
Het |
| Dnaaf6rt |
A |
G |
1: 31,262,564 (GRCm39) |
N182S |
probably benign |
Het |
| Dpagt1 |
C |
A |
9: 44,238,482 (GRCm39) |
N49K |
possibly damaging |
Het |
| Dsg3 |
A |
T |
18: 20,656,765 (GRCm39) |
S212C |
probably damaging |
Het |
| Epb41l1 |
C |
T |
2: 156,368,873 (GRCm39) |
A714V |
probably benign |
Het |
| Eppk1 |
A |
G |
15: 75,995,831 (GRCm39) |
V350A |
probably benign |
Het |
| Frem1 |
T |
G |
4: 82,918,499 (GRCm39) |
D481A |
probably damaging |
Het |
| Git2 |
T |
C |
5: 114,871,989 (GRCm39) |
K532E |
possibly damaging |
Het |
| Glyr1 |
T |
C |
16: 4,854,329 (GRCm39) |
H102R |
probably benign |
Het |
| Hdgfl2 |
C |
T |
17: 56,400,712 (GRCm39) |
P160L |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,308,905 (GRCm39) |
S382P |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Hydin |
G |
A |
8: 111,178,626 (GRCm39) |
G1074R |
probably damaging |
Het |
| Ift140 |
A |
G |
17: 25,311,889 (GRCm39) |
I1271V |
probably damaging |
Het |
| Krt28 |
T |
A |
11: 99,265,626 (GRCm39) |
I14L |
probably benign |
Het |
| Lrtm2 |
A |
T |
6: 119,294,458 (GRCm39) |
D224E |
probably damaging |
Het |
| Map1s |
G |
A |
8: 71,365,910 (GRCm39) |
V272M |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,233,866 (GRCm39) |
Y960H |
probably damaging |
Het |
| Mettl25 |
G |
T |
10: 105,662,002 (GRCm39) |
Q323K |
probably benign |
Het |
| Mlh3 |
A |
T |
12: 85,315,854 (GRCm39) |
S111T |
probably benign |
Het |
| Muc17 |
A |
G |
5: 137,172,798 (GRCm39) |
L85P |
|
Het |
| Myh6 |
C |
G |
14: 55,181,835 (GRCm39) |
R1822P |
probably damaging |
Het |
| Myof |
C |
T |
19: 37,983,872 (GRCm39) |
G144E |
probably benign |
Het |
| Nat8f2 |
A |
G |
6: 85,845,024 (GRCm39) |
S113P |
probably damaging |
Het |
| Nlrp9a |
A |
T |
7: 26,256,925 (GRCm39) |
Y181F |
probably benign |
Het |
| Nup85 |
A |
G |
11: 115,457,468 (GRCm39) |
I57V |
probably benign |
Het |
| Or4c99 |
T |
A |
2: 88,329,710 (GRCm39) |
C94S |
probably damaging |
Het |
| Or5p79 |
C |
T |
7: 108,221,163 (GRCm39) |
T48I |
probably damaging |
Het |
| Or7e170 |
T |
A |
9: 19,795,409 (GRCm39) |
Y64F |
possibly damaging |
Het |
| Pcdhb2 |
A |
G |
18: 37,429,110 (GRCm39) |
N361S |
probably damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
C |
T |
2: 156,129,913 (GRCm39) |
T495M |
probably benign |
Het |
| Pitpnm1 |
T |
C |
19: 4,155,454 (GRCm39) |
M368T |
probably benign |
Het |
| Pter |
A |
G |
2: 13,005,700 (GRCm39) |
D291G |
probably damaging |
Het |
| Rasgrp2 |
T |
G |
19: 6,454,781 (GRCm39) |
V207G |
probably damaging |
Het |
| Rnd2 |
A |
T |
11: 101,362,011 (GRCm39) |
Q188L |
probably benign |
Het |
| Sh3d19 |
T |
A |
3: 85,992,363 (GRCm39) |
D130E |
probably benign |
Het |
| Slc7a2 |
A |
T |
8: 41,369,396 (GRCm39) |
Y617F |
probably damaging |
Het |
| Snx29 |
T |
C |
16: 11,265,291 (GRCm39) |
L165P |
probably damaging |
Het |
| St7 |
T |
C |
6: 17,848,080 (GRCm39) |
|
probably null |
Het |
| Tas2r115 |
A |
G |
6: 132,714,798 (GRCm39) |
L51P |
probably damaging |
Het |
| Tead1 |
C |
A |
7: 112,456,135 (GRCm39) |
P164Q |
probably benign |
Het |
| Thop1 |
A |
G |
10: 80,914,385 (GRCm39) |
Y224C |
probably damaging |
Het |
| Twf1 |
T |
C |
15: 94,477,702 (GRCm39) |
*351W |
probably null |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,662,466 (GRCm39) |
|
probably null |
Het |
| Vmn2r118 |
G |
T |
17: 55,915,057 (GRCm39) |
L530I |
probably benign |
Het |
| Vmn2r30 |
A |
T |
7: 7,315,359 (GRCm39) |
C825S |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,818,549 (GRCm39) |
M3106K |
|
Het |
| Wfdc15a |
A |
T |
2: 164,041,671 (GRCm39) |
C51S |
probably damaging |
Het |
| Zc3hc1 |
T |
C |
6: 30,375,951 (GRCm39) |
D203G |
probably damaging |
Het |
| Zfhx2 |
G |
T |
14: 55,308,079 (GRCm39) |
D932E |
probably benign |
Het |
| Zfp267 |
G |
A |
3: 36,219,182 (GRCm39) |
G402S |
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 |
|
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 |
|
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'- TGGTACAGGGTCTTCTCAGG -3'
(R):5'- TTCATTTATCCTGGCTCGGG -3'
Sequencing Primer
(F):5'- CTTCTCAGGGTCCCAGGGAAAAG -3'
(R):5'- GCTCTTGGGATCCGAGGATG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation