Incidental Mutation 'R6043:Dgkz'
| ID |
483648 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgkz
|
| Ensembl Gene |
ENSMUSG00000040479 |
| Gene Name |
diacylglycerol kinase zeta |
| Synonyms |
mDGK[z], E130307B02Rik |
| MMRRC Submission |
044211-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6043 (G1)
|
| Quality Score |
139.008 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
91763169-91806209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 91766234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 776
(S776A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106937
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028667]
[ENSMUST00000028672]
[ENSMUST00000069423]
[ENSMUST00000090602]
[ENSMUST00000099709]
[ENSMUST00000111303]
[ENSMUST00000111309]
[ENSMUST00000142090]
[ENSMUST00000142231]
[ENSMUST00000128152]
|
| AlphaFold |
Q80UP3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028667
AA Change: S759A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000028667
Gene: ENSMUSG00000040479
AA Change: S759A
| 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: S776A
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000106937
Gene: ENSMUSG00000040479
AA Change: S776A
| 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: S953A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000106934
Gene: ENSMUSG00000040479
AA Change: S953A
| 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 |
noncoding transcript
Transcript: ENSMUST00000130023
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128902
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138894
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134103
|
| 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts4 |
T |
C |
1: 171,080,170 (GRCm39) |
F44S |
probably damaging |
Het |
| Ap3b1 |
A |
T |
13: 94,613,501 (GRCm39) |
T667S |
probably benign |
Het |
| Camsap1 |
T |
C |
2: 25,819,937 (GRCm39) |
Y1516C |
probably benign |
Het |
| Ccl17 |
A |
G |
8: 95,537,100 (GRCm39) |
M1V |
probably null |
Het |
| Cfhr1 |
T |
A |
1: 139,478,606 (GRCm39) |
T255S |
probably benign |
Het |
| Clcn6 |
T |
C |
4: 148,093,245 (GRCm39) |
N812D |
probably damaging |
Het |
| Cyp2b10 |
T |
C |
7: 25,616,764 (GRCm39) |
F402L |
probably damaging |
Het |
| Dnaaf2 |
A |
T |
12: 69,244,122 (GRCm39) |
L313Q |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,878,924 (GRCm39) |
G2728S |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,178,949 (GRCm39) |
M874K |
probably benign |
Het |
| Eef1akmt3 |
A |
T |
10: 126,869,147 (GRCm39) |
L109Q |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,530,434 (GRCm39) |
S243P |
probably benign |
Het |
| Fbxw21 |
T |
C |
9: 108,974,607 (GRCm39) |
I304M |
possibly damaging |
Het |
| Fcgr4 |
T |
C |
1: 170,847,699 (GRCm39) |
V99A |
probably damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,356,193 (GRCm39) |
E417G |
probably damaging |
Het |
| Flnc |
G |
T |
6: 29,446,607 (GRCm39) |
G939V |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,315,436 (GRCm39) |
M1173V |
probably benign |
Het |
| Hspa2 |
C |
T |
12: 76,453,096 (GRCm39) |
H597Y |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,870,212 (GRCm39) |
T64I |
probably benign |
Het |
| Kif16b |
A |
G |
2: 142,553,820 (GRCm39) |
S993P |
probably damaging |
Het |
| Kitl |
T |
A |
10: 99,899,947 (GRCm39) |
V84E |
probably damaging |
Het |
| Klra17 |
A |
G |
6: 129,849,150 (GRCm39) |
|
probably null |
Het |
| Map2k3 |
A |
G |
11: 60,837,572 (GRCm39) |
D224G |
probably benign |
Het |
| Medag |
T |
G |
5: 149,345,672 (GRCm39) |
F4V |
probably benign |
Het |
| Mob3b |
C |
T |
4: 34,985,993 (GRCm39) |
V182I |
probably benign |
Het |
| Mvb12b |
G |
T |
2: 33,764,402 (GRCm39) |
T49K |
probably damaging |
Het |
| Naaladl2 |
A |
G |
3: 24,112,378 (GRCm39) |
V568A |
possibly damaging |
Het |
| Nbea |
T |
C |
3: 55,693,896 (GRCm39) |
E2174G |
probably benign |
Het |
| Nmd3 |
T |
C |
3: 69,652,580 (GRCm39) |
Y389H |
probably benign |
Het |
| Or13g1 |
A |
G |
7: 85,955,547 (GRCm39) |
I258T |
probably damaging |
Het |
| Or4p19 |
C |
T |
2: 88,242,589 (GRCm39) |
E138K |
probably benign |
Het |
| Pcare |
T |
C |
17: 72,057,037 (GRCm39) |
D880G |
probably damaging |
Het |
| Pcdh1 |
T |
A |
18: 38,336,327 (GRCm39) |
N103Y |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,781,815 (GRCm39) |
D1905G |
possibly damaging |
Het |
| Plcd1 |
A |
G |
9: 118,901,667 (GRCm39) |
F619S |
probably damaging |
Het |
| Ptdss1 |
T |
A |
13: 67,111,433 (GRCm39) |
D166E |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,332,927 (GRCm39) |
V2713A |
probably damaging |
Het |
| Sema4f |
T |
C |
6: 82,896,634 (GRCm39) |
N200D |
probably damaging |
Het |
| Tjp1 |
A |
T |
7: 64,973,837 (GRCm39) |
N472K |
probably damaging |
Het |
| Trav6n-5 |
T |
C |
14: 53,342,608 (GRCm39) |
Y49H |
probably benign |
Het |
| Trbv2 |
A |
G |
6: 41,024,904 (GRCm39) |
T107A |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,643,933 (GRCm39) |
N1177S |
possibly damaging |
Het |
| Vmn1r212 |
A |
G |
13: 23,068,258 (GRCm39) |
V25A |
probably damaging |
Het |
| Zfhx4 |
T |
G |
3: 5,468,487 (GRCm39) |
S2882A |
probably benign |
Het |
| Zswim5 |
A |
C |
4: 116,819,818 (GRCm39) |
S408R |
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 |
|
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'- CAGAGTGTGGTGCTCCTAAGTG -3'
(R):5'- CTTGGTCTGAGAGAGGCTTC -3'
Sequencing Primer
(F):5'- GCTCCTGCTGGTGGAAATTCC -3'
(R):5'- AGAGGCTTCTCTAGGTCTGC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation