Incidental Mutation 'IGL02515:Dapk3'
| ID |
296740 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dapk3
|
| Ensembl Gene |
ENSMUSG00000034974 |
| Gene Name |
death-associated protein kinase 3 |
| Synonyms |
ZIP kinase |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02515
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
81018839-81029031 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 81025763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047665]
[ENSMUST00000178422]
[ENSMUST00000218157]
[ENSMUST00000219850]
[ENSMUST00000219133]
|
| AlphaFold |
O54784 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047665
|
| SMART Domains |
Protein: ENSMUSP00000035962
Gene: ENSMUSG00000034974
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
13 |
275 |
1.93e-98 |
SMART |
|
low complexity region
|
288 |
299 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
411 |
N/A |
INTRINSIC |
|
coiled coil region
|
419 |
444 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129834
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129950
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150782
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178422
|
| SMART Domains |
Protein: ENSMUSP00000137333
Gene: ENSMUSG00000034974
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
13 |
275 |
1.93e-98 |
SMART |
|
low complexity region
|
288 |
299 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
411 |
N/A |
INTRINSIC |
|
coiled coil region
|
419 |
444 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217936
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218157
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219850
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219133
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219944
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218227
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219329
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218698
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Death-associated protein kinase 3 (DAPK3) induces morphological changes in apoptosis when overexpressed in mammalian cells. These results suggest that DAPK3 may play a role in the induction of apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene-trapped allele exhibit embryonic lethality after blastocyst implantation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,153,229 (GRCm39) |
D879G |
probably benign |
Het |
| Atp6v0d2 |
A |
T |
4: 19,880,063 (GRCm39) |
F278Y |
possibly damaging |
Het |
| Cip2a |
A |
G |
16: 48,826,096 (GRCm39) |
T388A |
possibly damaging |
Het |
| Dpysl4 |
A |
T |
7: 138,676,651 (GRCm39) |
D367V |
probably damaging |
Het |
| E330034G19Rik |
T |
A |
14: 24,348,052 (GRCm39) |
D101E |
possibly damaging |
Het |
| Epb41l1 |
G |
A |
2: 156,378,933 (GRCm39) |
E811K |
probably damaging |
Het |
| Fsd1 |
T |
A |
17: 56,303,303 (GRCm39) |
V424E |
probably null |
Het |
| Ggt5 |
G |
A |
10: 75,425,604 (GRCm39) |
V21I |
probably benign |
Het |
| Gm5239 |
A |
G |
18: 35,669,787 (GRCm39) |
E51G |
probably damaging |
Het |
| Gpr156 |
A |
G |
16: 37,826,041 (GRCm39) |
S753G |
probably damaging |
Het |
| Grid1 |
A |
T |
14: 35,174,302 (GRCm39) |
Y648F |
probably damaging |
Het |
| Hmgcr |
T |
C |
13: 96,803,020 (GRCm39) |
|
probably benign |
Het |
| Insc |
A |
G |
7: 114,368,243 (GRCm39) |
D11G |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,790,876 (GRCm39) |
D88G |
probably damaging |
Het |
| Mtmr10 |
C |
T |
7: 63,987,259 (GRCm39) |
R600W |
probably damaging |
Het |
| Nlrc3 |
C |
A |
16: 3,767,323 (GRCm39) |
|
probably benign |
Het |
| Or5b116 |
T |
A |
19: 13,422,472 (GRCm39) |
I32N |
probably damaging |
Het |
| Or8g51 |
T |
C |
9: 38,609,087 (GRCm39) |
T196A |
probably benign |
Het |
| Pdcd11 |
A |
T |
19: 47,113,516 (GRCm39) |
D1323V |
probably damaging |
Het |
| Rgl3 |
T |
C |
9: 21,885,396 (GRCm39) |
R645G |
possibly damaging |
Het |
| Rnf2 |
A |
T |
1: 151,347,446 (GRCm39) |
D137E |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,747,952 (GRCm39) |
H430R |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,653,261 (GRCm39) |
V1534A |
possibly damaging |
Het |
| Stip1 |
T |
C |
19: 6,999,487 (GRCm39) |
T432A |
probably benign |
Het |
| Tnfsf14 |
T |
C |
17: 57,499,600 (GRCm39) |
D84G |
probably benign |
Het |
| Ube2o |
A |
G |
11: 116,434,525 (GRCm39) |
V601A |
probably damaging |
Het |
| Vmn1r215 |
T |
C |
13: 23,259,990 (GRCm39) |
I10T |
probably benign |
Het |
| Vtn |
A |
T |
11: 78,392,480 (GRCm39) |
I353F |
probably damaging |
Het |
|
| Other mutations in Dapk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00944:Dapk3
|
APN |
10 |
81,019,910 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02076:Dapk3
|
APN |
10 |
81,026,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02329:Dapk3
|
APN |
10 |
81,025,999 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL03002:Dapk3
|
APN |
10 |
81,026,437 (GRCm39) |
nonsense |
probably null |
|
|
R0131:Dapk3
|
UTSW |
10 |
81,028,141 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0727:Dapk3
|
UTSW |
10 |
81,026,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1628:Dapk3
|
UTSW |
10 |
81,027,643 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5084:Dapk3
|
UTSW |
10 |
81,026,152 (GRCm39) |
splice site |
probably null |
|
|
R5222:Dapk3
|
UTSW |
10 |
81,028,294 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6112:Dapk3
|
UTSW |
10 |
81,019,864 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6799:Dapk3
|
UTSW |
10 |
81,026,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6884:Dapk3
|
UTSW |
10 |
81,027,588 (GRCm39) |
splice site |
probably null |
|
|
R8683:Dapk3
|
UTSW |
10 |
81,026,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9016:Dapk3
|
UTSW |
10 |
81,028,266 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9453:Dapk3
|
UTSW |
10 |
81,025,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9745:Dapk3
|
UTSW |
10 |
81,028,594 (GRCm39) |
missense |
unknown |
|
|
Z1177:Dapk3
|
UTSW |
10 |
81,027,603 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation