Incidental Mutation 'R0839:Dgkz'
| ID |
78083 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkz
|
| Ensembl Gene |
ENSMUSG00000040479 |
| Gene Name |
diacylglycerol kinase zeta |
| Synonyms |
mDGK[z], E130307B02Rik |
| MMRRC Submission |
039018-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0839 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
91763169-91806209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91765456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 799
(S799P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106937
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028667]
[ENSMUST00000028672]
[ENSMUST00000069423]
[ENSMUST00000090602]
[ENSMUST00000099709]
[ENSMUST00000111303]
[ENSMUST00000111309]
[ENSMUST00000128152]
[ENSMUST00000142231]
|
| AlphaFold |
Q80UP3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028667
AA Change: S782P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028667
Gene: ENSMUSG00000040479
AA Change: S782P
| 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: ENSMUST00000028672
|
| SMART Domains |
Protein: ENSMUSP00000028672
Gene: ENSMUSG00000027239
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
30 |
N/A |
INTRINSIC |
|
PTN
|
34 |
113 |
4.2e-53 |
SMART |
|
low complexity region
|
120 |
139 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069423
|
| SMART Domains |
Protein: ENSMUSP00000068413
Gene: ENSMUSG00000027239
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
30 |
N/A |
INTRINSIC |
|
PTN
|
34 |
113 |
4.2e-53 |
SMART |
|
low complexity region
|
120 |
139 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090602
|
| SMART Domains |
Protein: ENSMUSP00000088090
Gene: ENSMUSG00000027239
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
30 |
N/A |
INTRINSIC |
|
PTN
|
34 |
113 |
4.2e-53 |
SMART |
|
low complexity region
|
120 |
139 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099709
AA Change: S799P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106937
Gene: ENSMUSG00000040479
AA Change: S799P
| 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: S976P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106934
Gene: ENSMUSG00000040479
AA Change: S976P
| 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: ENSMUST00000111309
|
| SMART Domains |
Protein: ENSMUSP00000106941
Gene: ENSMUSG00000027239
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
30 |
N/A |
INTRINSIC |
|
PTN
|
34 |
113 |
4.2e-53 |
SMART |
|
low complexity region
|
120 |
139 |
N/A |
INTRINSIC |
|
| 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: 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: ENSMUST00000128902
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130023
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134103
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138894
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
G |
A |
3: 121,920,527 (GRCm39) |
V1083M |
probably damaging |
Het |
| Aco2 |
A |
G |
15: 81,791,736 (GRCm39) |
|
probably null |
Het |
| AI661453 |
A |
T |
17: 47,747,752 (GRCm39) |
Q8L |
probably null |
Het |
| Ankrd42 |
T |
C |
7: 92,261,980 (GRCm39) |
D295G |
possibly damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,821,442 (GRCm39) |
I464L |
probably benign |
Het |
| Cdc5l |
A |
C |
17: 45,704,073 (GRCm39) |
M717R |
probably benign |
Het |
| Col4a1 |
G |
A |
8: 11,271,015 (GRCm39) |
P809S |
probably damaging |
Het |
| Dctn1 |
T |
C |
6: 83,167,459 (GRCm39) |
M358T |
possibly damaging |
Het |
| Dna2 |
T |
C |
10: 62,805,561 (GRCm39) |
C933R |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,729,188 (GRCm39) |
N1275S |
probably benign |
Het |
| Ect2l |
A |
G |
10: 18,017,652 (GRCm39) |
I659T |
probably benign |
Het |
| Ets1 |
T |
A |
9: 32,645,357 (GRCm39) |
Y201* |
probably null |
Het |
| Gle1 |
T |
A |
2: 29,848,462 (GRCm39) |
C679S |
probably benign |
Het |
| Gm10118 |
T |
G |
10: 63,762,643 (GRCm39) |
|
probably benign |
Het |
| Guk1 |
G |
A |
11: 59,075,921 (GRCm39) |
R146C |
probably damaging |
Het |
| H2-Q7 |
A |
G |
17: 35,658,688 (GRCm39) |
S109G |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,882,418 (GRCm39) |
V2809A |
probably damaging |
Het |
| Izumo1 |
T |
A |
7: 45,276,536 (GRCm39) |
D366E |
probably benign |
Het |
| Kctd20 |
A |
T |
17: 29,176,872 (GRCm39) |
M1L |
possibly damaging |
Het |
| Lct |
C |
T |
1: 128,214,346 (GRCm39) |
A1809T |
probably benign |
Het |
| Manea |
T |
C |
4: 26,327,983 (GRCm39) |
I353V |
probably damaging |
Het |
| Mybl2 |
T |
C |
2: 162,917,688 (GRCm39) |
Y65H |
probably benign |
Het |
| Myh11 |
C |
T |
16: 14,021,042 (GRCm39) |
E1744K |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,167,560 (GRCm39) |
D1922G |
probably damaging |
Het |
| Nepro |
C |
A |
16: 44,556,382 (GRCm39) |
D513E |
probably benign |
Het |
| Nnt |
A |
T |
13: 119,531,192 (GRCm39) |
I185K |
possibly damaging |
Het |
| Npat |
A |
T |
9: 53,456,480 (GRCm39) |
Q17L |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,175,071 (GRCm39) |
E956G |
possibly damaging |
Het |
| Or1e35 |
T |
A |
11: 73,798,138 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or1x6 |
A |
G |
11: 50,939,254 (GRCm39) |
I107V |
probably benign |
Het |
| Or2a14 |
T |
A |
6: 43,130,558 (GRCm39) |
F106L |
probably benign |
Het |
| Or4q3 |
A |
G |
14: 50,583,545 (GRCm39) |
V118A |
probably damaging |
Het |
| Or8g18 |
A |
T |
9: 39,149,146 (GRCm39) |
N191K |
possibly damaging |
Het |
| Or8g4 |
A |
T |
9: 39,661,687 (GRCm39) |
I2L |
probably benign |
Het |
| Or9e1 |
G |
A |
11: 58,732,478 (GRCm39) |
M179I |
probably benign |
Het |
| Pah |
T |
C |
10: 87,357,924 (GRCm39) |
S16P |
probably damaging |
Het |
| Pcdh15 |
C |
A |
10: 74,462,614 (GRCm39) |
P1365Q |
probably null |
Het |
| Pds5b |
G |
T |
5: 150,688,427 (GRCm39) |
V640F |
probably benign |
Het |
| Pgam5 |
A |
T |
5: 110,414,996 (GRCm39) |
H72Q |
probably benign |
Het |
| Plagl2 |
C |
A |
2: 153,074,461 (GRCm39) |
A147S |
probably damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,256,545 (GRCm39) |
L113Q |
probably null |
Het |
| Ppp1r12a |
T |
C |
10: 108,034,722 (GRCm39) |
V89A |
probably damaging |
Het |
| Ptprc |
A |
G |
1: 138,028,870 (GRCm39) |
Y443H |
possibly damaging |
Het |
| Ralgapb |
T |
C |
2: 158,315,203 (GRCm39) |
|
probably null |
Het |
| Rgsl1 |
A |
G |
1: 153,677,980 (GRCm39) |
|
probably null |
Het |
| Rubcn |
A |
C |
16: 32,647,713 (GRCm39) |
I681M |
probably damaging |
Het |
| Scaf11 |
A |
G |
15: 96,321,434 (GRCm39) |
L169S |
probably damaging |
Het |
| Scgb1b27 |
A |
G |
7: 33,721,276 (GRCm39) |
K55E |
probably benign |
Het |
| Sos1 |
A |
T |
17: 80,741,159 (GRCm39) |
I542N |
probably damaging |
Het |
| Syf2 |
T |
A |
4: 134,663,374 (GRCm39) |
V182D |
probably damaging |
Het |
| Tapbp |
T |
C |
17: 34,144,717 (GRCm39) |
V271A |
probably benign |
Het |
| Tmem33 |
T |
A |
5: 67,421,651 (GRCm39) |
L60Q |
probably damaging |
Het |
| Tmf1 |
A |
G |
6: 97,153,284 (GRCm39) |
V263A |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,806,020 (GRCm39) |
V798A |
probably benign |
Het |
| Zfp384 |
C |
A |
6: 125,013,631 (GRCm39) |
D550E |
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 |
|
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 |
|
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'- AAAGCGATCCCACGGGACTCAATG -3'
(R):5'- GTCACACTGCCCTGCTGTGTTTAG -3'
Sequencing Primer
(F):5'- TCCCACATATGACCAGGGAA -3'
(R):5'- catgaaccccatgaggccag -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation