Incidental Mutation 'IGL03106:Dgkz'
| ID |
418980 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL03106
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
91763169-91806209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91771204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 414
(S414P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106934
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028667]
[ENSMUST00000099709]
[ENSMUST00000111303]
[ENSMUST00000128152]
[ENSMUST00000142090]
[ENSMUST00000142231]
[ENSMUST00000178895]
|
| AlphaFold |
Q80UP3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028667
AA Change: S220P
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028667
Gene: ENSMUSG00000040479
AA Change: S220P
| 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: S237P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106937
Gene: ENSMUSG00000040479
AA Change: S237P
| 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: S414P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106934
Gene: ENSMUSG00000040479
AA Change: S414P
| 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 |
probably benign
Transcript: ENSMUST00000142090
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183498
|
| 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: ENSMUST00000178895
|
| Coding Region Coverage |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
G |
T |
8: 25,205,135 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,621,018 (GRCm39) |
N3911S |
probably benign |
Het |
| Alox12b |
C |
T |
11: 69,059,702 (GRCm39) |
Q585* |
probably null |
Het |
| Amtn |
A |
G |
5: 88,525,944 (GRCm39) |
Q36R |
probably benign |
Het |
| Arg2 |
G |
A |
12: 79,196,665 (GRCm39) |
G129S |
probably damaging |
Het |
| Arhgef28 |
A |
C |
13: 98,094,301 (GRCm39) |
Y948D |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,138,304 (GRCm39) |
V1195A |
probably benign |
Het |
| Bet1l |
G |
T |
7: 140,434,523 (GRCm39) |
T42K |
probably benign |
Het |
| Cabin1 |
G |
A |
10: 75,569,462 (GRCm39) |
T875I |
probably benign |
Het |
| Ccdc17 |
A |
G |
4: 116,454,033 (GRCm39) |
|
probably null |
Het |
| Crebrf |
A |
G |
17: 26,990,293 (GRCm39) |
E612G |
probably damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,632,119 (GRCm39) |
M83K |
probably benign |
Het |
| Dock10 |
G |
T |
1: 80,546,551 (GRCm39) |
H411N |
probably damaging |
Het |
| Dpyd |
A |
T |
3: 118,988,783 (GRCm39) |
T749S |
probably benign |
Het |
| Dsc1 |
C |
T |
18: 20,219,701 (GRCm39) |
|
probably null |
Het |
| Echdc1 |
A |
T |
10: 29,198,276 (GRCm39) |
M74L |
probably damaging |
Het |
| Edn1 |
C |
A |
13: 42,458,499 (GRCm39) |
T104K |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,202,727 (GRCm39) |
T116S |
probably benign |
Het |
| Fcrl5 |
A |
T |
3: 87,343,190 (GRCm39) |
|
probably null |
Het |
| Fpgt |
C |
T |
3: 154,792,759 (GRCm39) |
G423R |
probably damaging |
Het |
| Gprc5b |
A |
T |
7: 118,583,416 (GRCm39) |
V151E |
probably damaging |
Het |
| Grm5 |
A |
G |
7: 87,685,278 (GRCm39) |
Y465C |
probably damaging |
Het |
| Idh3b |
T |
A |
2: 130,126,321 (GRCm39) |
N6I |
probably benign |
Het |
| Ighmbp2 |
T |
C |
19: 3,323,022 (GRCm39) |
K308R |
possibly damaging |
Het |
| Lrch1 |
A |
T |
14: 75,073,202 (GRCm39) |
S146T |
possibly damaging |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mterf3 |
T |
C |
13: 67,078,221 (GRCm39) |
K16R |
probably damaging |
Het |
| Ncapg |
T |
A |
5: 45,853,010 (GRCm39) |
H825Q |
probably damaging |
Het |
| Or2t1 |
G |
A |
14: 14,328,851 (GRCm38) |
V247I |
probably damaging |
Het |
| Or2y1f |
T |
A |
11: 49,184,988 (GRCm39) |
I280N |
probably damaging |
Het |
| Or4d5 |
A |
G |
9: 40,012,030 (GRCm39) |
V252A |
probably damaging |
Het |
| Or5b95 |
G |
A |
19: 12,658,287 (GRCm39) |
V272M |
possibly damaging |
Het |
| Or5t15 |
A |
C |
2: 86,681,958 (GRCm39) |
L28R |
possibly damaging |
Het |
| Or5w15 |
A |
T |
2: 87,568,462 (GRCm39) |
S69T |
probably benign |
Het |
| Pald1 |
A |
T |
10: 61,182,884 (GRCm39) |
M355K |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,300,428 (GRCm39) |
|
probably benign |
Het |
| Phkb |
T |
A |
8: 86,745,095 (GRCm39) |
|
probably benign |
Het |
| Pkn3 |
G |
T |
2: 29,975,257 (GRCm39) |
R506L |
probably damaging |
Het |
| Plod2 |
T |
C |
9: 92,455,620 (GRCm39) |
Y100H |
probably damaging |
Het |
| Prl7b1 |
G |
T |
13: 27,790,918 (GRCm39) |
Q56K |
probably benign |
Het |
| Rhot1 |
T |
A |
11: 80,133,407 (GRCm39) |
C229* |
probably null |
Het |
| Sema3a |
G |
A |
5: 13,649,456 (GRCm39) |
R735Q |
probably damaging |
Het |
| Slc18b1 |
A |
G |
10: 23,702,557 (GRCm39) |
*460W |
probably null |
Het |
| Slco6c1 |
T |
A |
1: 96,993,748 (GRCm39) |
|
probably benign |
Het |
| Slu7 |
T |
A |
11: 43,333,457 (GRCm39) |
V359D |
possibly damaging |
Het |
| Suco |
T |
C |
1: 161,662,049 (GRCm39) |
Y794C |
possibly damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,655,769 (GRCm39) |
N70S |
probably benign |
Het |
| Taar2 |
A |
T |
10: 23,817,195 (GRCm39) |
D245V |
probably damaging |
Het |
| Taf1d |
A |
G |
9: 15,221,237 (GRCm39) |
H181R |
possibly damaging |
Het |
| Tmem33 |
T |
C |
5: 67,421,139 (GRCm39) |
S38P |
probably damaging |
Het |
| Traf3ip1 |
T |
C |
1: 91,450,609 (GRCm39) |
S519P |
probably benign |
Het |
| Ttc12 |
T |
C |
9: 49,369,362 (GRCm39) |
K253E |
possibly 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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation