Incidental Mutation 'R9120:Dgkz'
ID |
692710 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dgkz
|
Ensembl Gene |
ENSMUSG00000040479 |
Gene Name |
diacylglycerol kinase zeta |
Synonyms |
mDGK[z], E130307B02Rik |
MMRRC Submission |
068923-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9120 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
91763169-91806209 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 91768545 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 714
(D714E)
|
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: D520E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000028667 Gene: ENSMUSG00000040479 AA Change: D520E
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: D537E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000106937 Gene: ENSMUSG00000040479 AA Change: D537E
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: D714E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000106934 Gene: ENSMUSG00000040479 AA Change: D714E
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (54/54) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
A |
G |
8: 41,209,141 (GRCm39) |
|
probably benign |
Het |
Adgrb2 |
A |
G |
4: 129,906,302 (GRCm39) |
N910S |
possibly damaging |
Het |
Arhgap24 |
A |
T |
5: 103,040,016 (GRCm39) |
I411F |
probably benign |
Het |
BC030500 |
T |
A |
8: 59,365,911 (GRCm39) |
L15Q |
unknown |
Het |
BC051665 |
A |
G |
13: 60,932,916 (GRCm39) |
V15A |
probably benign |
Het |
Bicc1 |
T |
C |
10: 70,776,862 (GRCm39) |
D732G |
probably damaging |
Het |
Bpifb1 |
A |
G |
2: 154,046,692 (GRCm39) |
I71V |
probably benign |
Het |
Btnl1 |
A |
T |
17: 34,598,681 (GRCm39) |
Q99L |
possibly damaging |
Het |
Castor1 |
T |
A |
11: 4,170,767 (GRCm39) |
V196D |
possibly damaging |
Het |
Col9a2 |
G |
T |
4: 120,900,951 (GRCm39) |
|
probably benign |
Het |
D7Ertd443e |
T |
A |
7: 133,871,986 (GRCm39) |
D625V |
probably damaging |
Het |
Dchs2 |
A |
T |
3: 83,187,535 (GRCm39) |
D1327V |
probably damaging |
Het |
Ddx1 |
A |
G |
12: 13,275,458 (GRCm39) |
V543A |
possibly damaging |
Het |
Dlk1 |
A |
G |
12: 109,424,051 (GRCm39) |
D105G |
probably benign |
Het |
Fndc3a |
A |
G |
14: 72,802,133 (GRCm39) |
F557L |
probably benign |
Het |
Gm28042 |
C |
T |
2: 119,869,462 (GRCm39) |
L609F |
probably damaging |
Het |
Gsap |
A |
G |
5: 21,458,434 (GRCm39) |
I473V |
probably damaging |
Het |
Jag1 |
A |
T |
2: 136,930,354 (GRCm39) |
M730K |
probably benign |
Het |
Kazald1 |
A |
T |
19: 45,065,211 (GRCm39) |
T31S |
probably benign |
Het |
Ldhb |
A |
G |
6: 142,439,935 (GRCm39) |
W202R |
probably damaging |
Het |
Lrrcc1 |
C |
T |
3: 14,615,489 (GRCm39) |
Q528* |
probably null |
Het |
Magi2 |
A |
T |
5: 20,733,305 (GRCm39) |
K525I |
possibly damaging |
Het |
Map2 |
A |
G |
1: 66,453,218 (GRCm39) |
I703V |
probably damaging |
Het |
Mdn1 |
A |
T |
4: 32,701,814 (GRCm39) |
M1516L |
probably damaging |
Het |
Mpzl2 |
T |
A |
9: 44,958,583 (GRCm39) |
S186R |
probably benign |
Het |
Mtif2 |
T |
C |
11: 29,483,951 (GRCm39) |
M208T |
probably benign |
Het |
Myo3a |
T |
C |
2: 22,436,464 (GRCm39) |
V873A |
probably benign |
Het |
Or10ac1 |
A |
C |
6: 42,515,583 (GRCm39) |
Y124* |
probably null |
Het |
Or1j4 |
T |
A |
2: 36,740,143 (GRCm39) |
Y28* |
probably null |
Het |
Or5d38 |
A |
G |
2: 87,955,123 (GRCm39) |
S69P |
probably damaging |
Het |
Or5p6 |
T |
C |
7: 107,630,887 (GRCm39) |
Y221C |
probably damaging |
Het |
Or8g51 |
A |
G |
9: 38,608,735 (GRCm39) |
F309S |
probably benign |
Het |
Pgap4 |
A |
G |
4: 49,587,093 (GRCm39) |
V25A |
probably benign |
Het |
Plod2 |
G |
T |
9: 92,424,380 (GRCm39) |
|
probably benign |
Het |
Rgs14 |
A |
C |
13: 55,528,792 (GRCm39) |
D311A |
probably damaging |
Het |
Rin1 |
C |
A |
19: 5,103,048 (GRCm39) |
P446T |
probably damaging |
Het |
Ripor3 |
T |
C |
2: 167,822,835 (GRCm39) |
K909E |
possibly damaging |
Het |
Rnf139 |
T |
C |
15: 58,771,685 (GRCm39) |
L570P |
probably damaging |
Het |
Snx17 |
A |
G |
5: 31,355,026 (GRCm39) |
E347G |
probably damaging |
Het |
Spaca1 |
A |
G |
4: 34,029,168 (GRCm39) |
S220P |
probably damaging |
Het |
Spen |
G |
T |
4: 141,200,233 (GRCm39) |
T2798K |
|
Het |
Tacc1 |
G |
T |
8: 25,659,255 (GRCm39) |
S570R |
probably damaging |
Het |
Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
Trim63 |
G |
A |
4: 134,055,003 (GRCm39) |
|
probably benign |
Het |
Trmt2a |
C |
A |
16: 18,067,722 (GRCm39) |
R132S |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,768,716 (GRCm39) |
E2952G |
unknown |
Het |
Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
Vmn1r211 |
A |
T |
13: 23,035,936 (GRCm39) |
F244I |
probably damaging |
Het |
Vmn2r86 |
T |
G |
10: 130,289,677 (GRCm39) |
S73R |
probably benign |
Het |
Wdr27 |
A |
G |
17: 15,152,846 (GRCm39) |
L87P |
probably damaging |
Het |
Zfp148 |
A |
G |
16: 33,317,596 (GRCm39) |
N756S |
probably benign |
Het |
Zfp57 |
G |
A |
17: 37,320,650 (GRCm39) |
R168H |
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 |
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 |
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'- CCTCCAGGTAGCCATCATCATG -3'
(R):5'- AGACGGCCTTCTCTGACTTC -3'
Sequencing Primer
(F):5'- AGGTAGCCATCATCATGCCTCTG -3'
(R):5'- CTCTGACTTCCTGATGGGCAG -3'
|
Posted On |
2021-12-30 |