Incidental Mutation 'R8183:Dgkz'
ID |
634711 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dgkz
|
Ensembl Gene |
ENSMUSG00000040479 |
Gene Name |
diacylglycerol kinase zeta |
Synonyms |
mDGK[z], E130307B02Rik |
MMRRC Submission |
067781-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8183 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
91763169-91806209 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 91769937 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 576
(G576C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106934
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028667]
[ENSMUST00000099709]
[ENSMUST00000111303]
[ENSMUST00000128152]
[ENSMUST00000142090]
[ENSMUST00000142231]
|
AlphaFold |
Q80UP3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028667
AA Change: G382C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028667 Gene: ENSMUSG00000040479 AA Change: G382C
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 damaging
Transcript: ENSMUST00000099709
AA Change: G399C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106937 Gene: ENSMUSG00000040479 AA Change: G399C
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 damaging
Transcript: ENSMUST00000111303
AA Change: G576C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106934 Gene: ENSMUSG00000040479 AA Change: G576C
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: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
100% (51/51) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago2 |
T |
A |
15: 72,991,337 (GRCm39) |
K534* |
probably null |
Het |
Art1 |
A |
T |
7: 101,756,633 (GRCm39) |
I275F |
probably damaging |
Het |
Atp1a2 |
T |
C |
1: 172,116,918 (GRCm39) |
N233S |
probably damaging |
Het |
B3gnt2 |
T |
A |
11: 22,786,373 (GRCm39) |
I272L |
probably benign |
Het |
Bpifa1 |
A |
G |
2: 153,988,039 (GRCm39) |
Q194R |
possibly damaging |
Het |
Cand2 |
A |
G |
6: 115,768,879 (GRCm39) |
E563G |
probably benign |
Het |
Clns1a |
A |
G |
7: 97,354,888 (GRCm39) |
Y78C |
probably damaging |
Het |
Col20a1 |
T |
C |
2: 180,640,207 (GRCm39) |
V483A |
|
Het |
Col3a1 |
C |
G |
1: 45,373,970 (GRCm39) |
P621R |
unknown |
Het |
Cst9 |
G |
A |
2: 148,678,634 (GRCm39) |
R88H |
possibly damaging |
Het |
Cxxc1 |
T |
C |
18: 74,353,428 (GRCm39) |
Y513H |
probably damaging |
Het |
Dcdc2a |
T |
C |
13: 25,291,633 (GRCm39) |
F206S |
possibly damaging |
Het |
Dpy19l3 |
A |
G |
7: 35,394,814 (GRCm39) |
F575L |
probably damaging |
Het |
Ftcd |
T |
A |
10: 76,411,541 (GRCm39) |
M1K |
probably null |
Het |
Gtf2ird1 |
T |
C |
5: 134,386,689 (GRCm39) |
D1044G |
unknown |
Het |
Gzmc |
A |
T |
14: 56,470,164 (GRCm39) |
M111K |
probably damaging |
Het |
Hpse |
T |
A |
5: 100,832,984 (GRCm39) |
Y437F |
probably damaging |
Het |
Ifi203 |
A |
G |
1: 173,756,266 (GRCm39) |
S506P |
unknown |
Het |
Igsf10 |
A |
T |
3: 59,238,036 (GRCm39) |
I715K |
probably benign |
Het |
Ints9 |
T |
C |
14: 65,273,902 (GRCm39) |
V569A |
probably damaging |
Het |
Itih3 |
A |
G |
14: 30,631,433 (GRCm39) |
F821S |
probably benign |
Het |
Kcnh7 |
T |
C |
2: 62,533,321 (GRCm39) |
H1186R |
probably damaging |
Het |
Krt33a |
A |
G |
11: 99,905,575 (GRCm39) |
|
probably null |
Het |
Lonrf1 |
A |
T |
8: 36,689,819 (GRCm39) |
M718K |
possibly damaging |
Het |
Mefv |
C |
T |
16: 3,526,446 (GRCm39) |
R756K |
possibly damaging |
Het |
Metap1d |
T |
A |
2: 71,337,207 (GRCm39) |
F40Y |
possibly damaging |
Het |
Myh1 |
A |
T |
11: 67,092,832 (GRCm39) |
D42V |
possibly damaging |
Het |
Myo15b |
T |
G |
11: 115,773,843 (GRCm39) |
|
probably null |
Het |
Nsd1 |
T |
C |
13: 55,460,186 (GRCm39) |
S2241P |
probably damaging |
Het |
Or10q12 |
T |
A |
19: 13,746,086 (GRCm39) |
Y127N |
probably damaging |
Het |
Osbpl3 |
C |
A |
6: 50,280,089 (GRCm39) |
R710L |
probably benign |
Het |
Osbpl6 |
C |
T |
2: 76,415,404 (GRCm39) |
R589C |
probably damaging |
Het |
Pam |
T |
C |
1: 97,762,199 (GRCm39) |
T795A |
probably benign |
Het |
Patj |
A |
C |
4: 98,562,466 (GRCm39) |
E1534D |
probably damaging |
Het |
Plscr5 |
A |
G |
9: 92,080,655 (GRCm39) |
Q47R |
probably benign |
Het |
Ppil1 |
A |
T |
17: 29,481,053 (GRCm39) |
|
probably null |
Het |
Sec23b |
G |
T |
2: 144,401,189 (GRCm39) |
V17L |
probably benign |
Het |
Serpina3j |
C |
A |
12: 104,284,754 (GRCm39) |
Y310* |
probably null |
Het |
Slc6a7 |
T |
C |
18: 61,140,448 (GRCm39) |
S195G |
probably null |
Het |
Snrpn |
A |
G |
7: 59,634,830 (GRCm39) |
Y168H |
probably damaging |
Het |
Tmprss15 |
T |
C |
16: 78,884,400 (GRCm39) |
D94G |
probably benign |
Het |
Tnpo3 |
A |
T |
6: 29,558,758 (GRCm39) |
M724K |
probably damaging |
Het |
Trappc11 |
T |
G |
8: 47,982,391 (GRCm39) |
E116A |
possibly damaging |
Het |
Trpc6 |
T |
C |
9: 8,653,150 (GRCm39) |
F652S |
possibly damaging |
Het |
Trrap |
T |
G |
5: 144,765,343 (GRCm39) |
S2501A |
probably benign |
Het |
Ubr4 |
T |
G |
4: 139,209,782 (GRCm39) |
S5005A |
unknown |
Het |
Urah |
A |
T |
7: 140,416,707 (GRCm39) |
Q60L |
probably benign |
Het |
Vmn2r28 |
A |
T |
7: 5,491,147 (GRCm39) |
C367S |
probably damaging |
Het |
Zmym1 |
T |
C |
4: 126,952,649 (GRCm39) |
D44G |
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 |
|
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 |
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'- ATTCCCCTCCTCAACATGGG -3'
(R):5'- CTGGAAATGTACCGCAAAGTAC -3'
Sequencing Primer
(F):5'- CTCCTCAACATGGGAAAGGATCTTTG -3'
(R):5'- ACATAATTTGAGGATTCTGGCTTGC -3'
|
Posted On |
2020-07-13 |