Incidental Mutation 'IGL01995:Dgkz'
ID |
183686 |
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 # |
IGL01995
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
91763169-91806209 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 91764395 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114740
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028667]
[ENSMUST00000028672]
[ENSMUST00000069423]
[ENSMUST00000090602]
[ENSMUST00000099709]
[ENSMUST00000111303]
[ENSMUST00000142231]
[ENSMUST00000128152]
[ENSMUST00000111309]
|
AlphaFold |
Q80UP3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028667
|
SMART Domains |
Protein: ENSMUSP00000028667 Gene: ENSMUSG00000040479
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
|
SMART Domains |
Protein: ENSMUSP00000106937 Gene: ENSMUSG00000040479
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
|
SMART Domains |
Protein: ENSMUSP00000106934 Gene: ENSMUSG00000040479
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: 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: ENSMUST00000148297
|
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 |
noncoding transcript
Transcript: ENSMUST00000124427
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134103
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130023
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138894
|
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 |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503E14Rik |
T |
C |
14: 44,401,302 (GRCm39) |
|
probably benign |
Het |
AI661453 |
C |
A |
17: 47,779,442 (GRCm39) |
|
probably benign |
Het |
Arhgap29 |
G |
A |
3: 121,807,977 (GRCm39) |
V1052I |
probably benign |
Het |
Arhgef17 |
A |
G |
7: 100,577,862 (GRCm39) |
S1029P |
probably benign |
Het |
Arpc5l |
T |
C |
2: 38,898,226 (GRCm39) |
S7P |
probably damaging |
Het |
Asf1b |
A |
G |
8: 84,682,533 (GRCm39) |
I26V |
probably benign |
Het |
Cep95 |
T |
C |
11: 106,697,197 (GRCm39) |
L240P |
probably damaging |
Het |
Cnmd |
A |
G |
14: 79,879,508 (GRCm39) |
|
probably benign |
Het |
Cntn3 |
T |
A |
6: 102,180,846 (GRCm39) |
N783I |
probably damaging |
Het |
Col6a2 |
C |
A |
10: 76,440,676 (GRCm39) |
|
probably benign |
Het |
Col9a2 |
T |
C |
4: 120,907,607 (GRCm39) |
|
probably null |
Het |
Cry2 |
T |
C |
2: 92,254,977 (GRCm39) |
E126G |
probably benign |
Het |
Cxcl15 |
T |
C |
5: 90,942,467 (GRCm39) |
V13A |
possibly damaging |
Het |
Dbr1 |
A |
G |
9: 99,465,952 (GRCm39) |
D510G |
probably benign |
Het |
Dct |
A |
G |
14: 118,271,655 (GRCm39) |
F392L |
probably damaging |
Het |
Dhrs7b |
A |
G |
11: 60,721,541 (GRCm39) |
I2V |
probably benign |
Het |
Efnb3 |
A |
T |
11: 69,447,730 (GRCm39) |
|
probably null |
Het |
Fbf1 |
T |
A |
11: 116,041,846 (GRCm39) |
R565S |
probably null |
Het |
Gimap5 |
T |
C |
6: 48,729,727 (GRCm39) |
I99T |
probably damaging |
Het |
Gm9912 |
A |
G |
3: 148,891,085 (GRCm39) |
L16P |
unknown |
Het |
Gpr17 |
A |
G |
18: 32,080,187 (GRCm39) |
L292P |
probably damaging |
Het |
Hdac10 |
C |
T |
15: 89,011,801 (GRCm39) |
V129M |
probably damaging |
Het |
Mfap3l |
A |
G |
8: 61,124,498 (GRCm39) |
I247V |
possibly damaging |
Het |
Mtus1 |
A |
T |
8: 41,537,457 (GRCm39) |
S86R |
probably damaging |
Het |
Mylk3 |
A |
G |
8: 86,085,890 (GRCm39) |
S55P |
possibly damaging |
Het |
Nol6 |
A |
T |
4: 41,118,567 (GRCm39) |
C745S |
probably damaging |
Het |
Nudt13 |
A |
T |
14: 20,356,385 (GRCm39) |
E103D |
probably damaging |
Het |
Or10ag59 |
A |
G |
2: 87,405,806 (GRCm39) |
Y126C |
probably damaging |
Het |
Or1e35 |
A |
G |
11: 73,798,261 (GRCm39) |
I19T |
possibly damaging |
Het |
Pdzk1 |
G |
T |
3: 96,764,687 (GRCm39) |
A324S |
probably benign |
Het |
Pofut2 |
T |
C |
10: 77,096,515 (GRCm39) |
V80A |
possibly damaging |
Het |
Rasip1 |
A |
G |
7: 45,286,240 (GRCm39) |
D821G |
probably damaging |
Het |
Rnf10 |
T |
A |
5: 115,389,161 (GRCm39) |
K273* |
probably null |
Het |
Slc4a9 |
A |
G |
18: 36,672,828 (GRCm39) |
M811V |
possibly damaging |
Het |
Smchd1 |
T |
C |
17: 71,751,015 (GRCm39) |
D301G |
probably damaging |
Het |
Tm9sf2 |
A |
T |
14: 122,380,883 (GRCm39) |
T159S |
probably benign |
Het |
Tom1l1 |
G |
A |
11: 90,540,687 (GRCm39) |
P327S |
probably damaging |
Het |
Trim3 |
A |
G |
7: 105,267,689 (GRCm39) |
|
probably benign |
Het |
Trpm6 |
A |
C |
19: 18,807,691 (GRCm39) |
|
probably benign |
Het |
Ttc13 |
A |
C |
8: 125,415,621 (GRCm39) |
L245R |
probably damaging |
Het |
Txnrd1 |
T |
A |
10: 82,713,118 (GRCm39) |
V60E |
probably damaging |
Het |
Ung |
T |
A |
5: 114,274,447 (GRCm39) |
D173E |
probably benign |
Het |
Zbtb5 |
A |
G |
4: 44,995,294 (GRCm39) |
V30A |
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 |
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 |
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 |
2014-05-07 |