Incidental Mutation 'RF001:Dgkz'
| ID |
602482 |
| Institutional Source |
Beutler Lab
|
| 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 # |
RF001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
91763169-91806209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 91770286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 521
(F521I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106934
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028667]
[ENSMUST00000099709]
[ENSMUST00000111303]
[ENSMUST00000128152]
[ENSMUST00000142090]
[ENSMUST00000142231]
|
| AlphaFold |
Q80UP3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028667
AA Change: F327I
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028667
Gene: ENSMUSG00000040479
AA Change: F327I
| 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 |
possibly damaging
Transcript: ENSMUST00000099709
AA Change: F344I
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106937
Gene: ENSMUSG00000040479
AA Change: F344I
| 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 |
possibly damaging
Transcript: ENSMUST00000111303
AA Change: F521I
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106934
Gene: ENSMUSG00000040479
AA Change: F521I
| 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: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.3%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
G |
GTGGCTGCTA |
1: 82,891,311 (GRCm39) |
|
probably benign |
Het |
| Acer1 |
A |
G |
17: 57,265,909 (GRCm39) |
V122A |
probably benign |
Het |
| Adam34l |
T |
G |
8: 44,079,942 (GRCm39) |
D94A |
possibly damaging |
Het |
| Ankhd1 |
GGCGGC |
GGCGGCAGCGGC |
18: 36,693,974 (GRCm39) |
|
probably benign |
Het |
| Ankrd24 |
C |
CGGAGGCAGAGGA |
10: 81,479,405 (GRCm39) |
|
probably benign |
Het |
| Atp13a1 |
C |
A |
8: 70,252,720 (GRCm39) |
A680D |
probably damaging |
Het |
| Blm |
CGCCTCCTCCTC |
CGCCTCCTCCTCAGCCTCCTCCTC |
7: 80,162,651 (GRCm39) |
|
probably benign |
Het |
| Blm |
CTCCTCC |
CTCCTCCTCCTCGTCCTCC |
7: 80,162,675 (GRCm39) |
|
probably benign |
Het |
| Blm |
CTCCTCCTCCTCCTCCTCCTCCTC |
CTCCTCCTCCTCATCCTCCTCCTCCTCCTCCTCCTC |
7: 80,162,654 (GRCm39) |
|
probably benign |
Het |
| Cad |
GT |
G |
5: 31,217,556 (GRCm39) |
|
probably benign |
Het |
| Calhm1 |
GC |
GCTGTGGCTGTGTC |
19: 47,129,715 (GRCm39) |
|
probably benign |
Het |
| Casz1 |
CACA |
C |
4: 149,036,761 (GRCm39) |
|
probably benign |
Het |
| Cherp |
GACCTGGA |
G |
8: 73,215,893 (GRCm39) |
|
probably null |
Het |
| Chga |
AGC |
AGCTGC |
12: 102,527,682 (GRCm39) |
|
probably benign |
Het |
| Coq7 |
A |
G |
7: 118,132,405 (GRCm39) |
S24P |
probably benign |
Het |
| Cul1 |
T |
C |
6: 47,501,515 (GRCm39) |
V734A |
possibly damaging |
Het |
| Cyb5r4 |
GCCCAGGGATGTGACAGACACACT |
GCCCAGGGATGTGACAGACACACTCCCCAGGGATGTGACAGACACACT |
9: 86,922,469 (GRCm39) |
|
probably benign |
Het |
| Fam171b |
GCAGCA |
GCAGCATCAGCA |
2: 83,643,230 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
T |
G |
8: 45,442,003 (GRCm39) |
S1102A |
probably benign |
Het |
| Gab3 |
CTT |
CTTTTT |
X: 74,043,624 (GRCm39) |
|
probably benign |
Het |
| Gm14412 |
T |
C |
2: 177,008,894 (GRCm39) |
I52V |
probably benign |
Het |
| Gm5414 |
T |
C |
15: 101,536,388 (GRCm39) |
E79G |
probably benign |
Het |
| Gpc5 |
G |
A |
14: 115,654,590 (GRCm39) |
S470N |
probably benign |
Het |
| Grin2b |
A |
G |
6: 136,021,238 (GRCm39) |
V21A |
probably benign |
Het |
| Hecw1 |
C |
A |
13: 14,472,009 (GRCm39) |
C553F |
probably damaging |
Het |
| Hsd3b6 |
T |
A |
3: 98,713,756 (GRCm39) |
H181L |
probably benign |
Het |
| Il2 |
CCAGGTGCTGCTGC |
CC |
3: 37,179,911 (GRCm39) |
|
probably benign |
Het |
| Inpp5f |
G |
A |
7: 128,296,807 (GRCm39) |
G1053R |
probably damaging |
Het |
| Kcnma1 |
T |
G |
14: 23,361,765 (GRCm39) |
Y1142S |
probably damaging |
Het |
| Kctd8 |
T |
C |
5: 69,267,775 (GRCm39) |
K445R |
possibly damaging |
Het |
| Kmt2b |
CC |
CCTCCTTC |
7: 30,285,807 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
TG |
TGTTGCGG |
5: 25,520,773 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACCAC |
CACCACCGCCACCGCAACCAC |
1: 83,020,003 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACAGCCACAGCCACCACAGCCACAGCCAC |
CACAGCCACAGCCACAACAGCCACAGCCACCACAGCCACAGCCAC |
1: 83,019,976 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
GCCACCACAGC |
GCCACCACAGCCACATCCACCACAGC |
1: 83,020,001 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,059,897 (GRCm39) |
D662G |
|
Het |
| Lce1m |
AC |
ACTGCTGCTGCCCC |
3: 92,925,459 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
GCTGCCACC |
GCTGCCACCACTCCTGCCACC |
3: 92,925,576 (GRCm39) |
|
probably benign |
Het |
| Lmo4 |
A |
C |
3: 143,907,623 (GRCm39) |
S63A |
possibly damaging |
Het |
| Lrrk2 |
T |
C |
15: 91,620,836 (GRCm39) |
I952T |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,810,426 (GRCm39) |
F699L |
probably benign |
Het |
| Matn3 |
T |
A |
12: 9,008,797 (GRCm39) |
D303E |
probably benign |
Het |
| Me1 |
A |
G |
9: 86,464,876 (GRCm39) |
Y545H |
probably damaging |
Het |
| Mettl3 |
A |
T |
14: 52,537,756 (GRCm39) |
V68E |
probably benign |
Het |
| Mptx2 |
T |
C |
1: 173,102,536 (GRCm39) |
N51S |
probably benign |
Het |
| Mylk |
A |
G |
16: 34,699,741 (GRCm39) |
D368G |
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,131,418 (GRCm39) |
V372A |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,085,433 (GRCm39) |
D5569G |
probably damaging |
Het |
| Nefh |
GGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGACTTGGCCTCACCTGCGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,030 (GRCm39) |
|
probably benign |
Het |
| P4ha2 |
CCAGGTG |
C |
11: 54,001,061 (GRCm39) |
|
probably benign |
Het |
| Pop1 |
G |
A |
15: 34,502,583 (GRCm39) |
G90D |
probably damaging |
Het |
| Rbm12 |
CC |
CCGGGTATTGTGGGACCAGTTATTGCGGGAGC |
2: 155,937,995 (GRCm39) |
|
probably benign |
Het |
| Sertad4 |
T |
C |
1: 192,529,486 (GRCm39) |
Y110C |
probably damaging |
Het |
| Setd1a |
GGTAGTGGT |
GGTAGTGGTAGTAGTGGT |
7: 127,384,486 (GRCm39) |
|
probably benign |
Het |
| Smarca2 |
AGC |
AGCCCCGGC |
19: 26,608,421 (GRCm39) |
|
probably benign |
Het |
| Smarca2 |
ACA |
ACAACAGCA |
19: 26,608,386 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
AGCA |
AGCACCCGCA |
3: 54,635,083 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
AGC |
AGCCGC |
18: 60,968,811 (GRCm39) |
|
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,154,204 (GRCm39) |
F83S |
probably damaging |
Het |
| Triobp |
GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA |
GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA |
15: 78,851,227 (GRCm39) |
|
probably benign |
Het |
| Vmn1r48 |
A |
T |
6: 90,013,186 (GRCm39) |
M213K |
probably benign |
Het |
| Zc3h4 |
CCC |
CCCTGACATGCATCC |
7: 16,163,612 (GRCm39) |
|
probably benign |
Het |
| Zscan29 |
T |
C |
2: 120,994,477 (GRCm39) |
N503D |
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 |
|
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 |
|
|
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'- TATGTGCATCAGGCCTGAGC -3'
(R):5'- CTGAGAAGACCCTGTACCATAC -3'
Sequencing Primer
(F):5'- GCTCTCAGAACTCACCGTG -3'
(R):5'- ATACCAGCCTTTACTGTATCTGG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation