Incidental Mutation 'IGL00944:Dapk3'
| ID |
28359 |
| 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 # |
IGL00944
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
81018839-81029031 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 81019910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047665]
[ENSMUST00000047864]
[ENSMUST00000056086]
[ENSMUST00000178422]
[ENSMUST00000218157]
[ENSMUST00000219133]
[ENSMUST00000219850]
|
| AlphaFold |
O54784 |
| Predicted Effect |
probably null
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 |
probably benign
Transcript: ENSMUST00000047864
|
| SMART Domains |
Protein: ENSMUSP00000046101
Gene: ENSMUSG00000034994
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
17 |
360 |
2e-65 |
PFAM |
|
Pfam:MMR_HSR1
|
21 |
159 |
6.3e-6 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
409 |
486 |
2.3e-14 |
PFAM |
|
Pfam:EFG_II
|
501 |
568 |
1.9e-14 |
PFAM |
|
EFG_IV
|
621 |
737 |
5.56e-27 |
SMART |
|
EFG_C
|
739 |
828 |
4.06e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056086
|
| SMART Domains |
Protein: ENSMUSP00000049685
Gene: ENSMUSG00000053603
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000218157
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218698
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219497
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219943
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219329
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219133
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219850
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp10b |
A |
G |
11: 43,092,988 (GRCm39) |
N441S |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,974,166 (GRCm39) |
C2383R |
probably benign |
Het |
| Dock6 |
T |
C |
9: 21,757,930 (GRCm39) |
D58G |
possibly damaging |
Het |
| Etl4 |
G |
A |
2: 20,534,865 (GRCm39) |
V107I |
possibly damaging |
Het |
| Fam163b |
A |
G |
2: 27,003,597 (GRCm39) |
L19P |
probably damaging |
Het |
| Fbxl20 |
A |
C |
11: 98,004,068 (GRCm39) |
F73L |
probably damaging |
Het |
| Foxj2 |
T |
C |
6: 122,816,594 (GRCm39) |
L492P |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,049,996 (GRCm39) |
V391E |
possibly damaging |
Het |
| Ift74 |
T |
C |
4: 94,581,259 (GRCm39) |
Y586H |
probably damaging |
Het |
| Klhl12 |
A |
G |
1: 134,411,491 (GRCm39) |
N280S |
probably benign |
Het |
| Lctl |
T |
A |
9: 64,040,411 (GRCm39) |
Y292* |
probably null |
Het |
| Ltb |
C |
A |
17: 35,413,642 (GRCm39) |
Q49K |
possibly damaging |
Het |
| Mapk1 |
T |
A |
16: 16,853,322 (GRCm39) |
D289E |
probably benign |
Het |
| Mideas |
A |
G |
12: 84,207,322 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
C |
T |
15: 4,980,609 (GRCm39) |
|
probably benign |
Het |
| Myot |
T |
C |
18: 44,470,181 (GRCm39) |
S53P |
possibly damaging |
Het |
| Opn5 |
G |
A |
17: 42,922,119 (GRCm39) |
L28F |
probably damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,719 (GRCm39) |
Y142N |
probably benign |
Het |
| Or8k39 |
A |
G |
2: 86,563,905 (GRCm39) |
I17T |
possibly damaging |
Het |
| Pals2 |
T |
C |
6: 50,140,436 (GRCm39) |
V152A |
possibly damaging |
Het |
| Pld1 |
T |
A |
3: 28,099,247 (GRCm39) |
|
probably null |
Het |
| Rc3h2 |
A |
G |
2: 37,288,250 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
T |
A |
16: 73,730,585 (GRCm39) |
H1009L |
possibly damaging |
Het |
| Setd7 |
T |
A |
3: 51,440,459 (GRCm39) |
D194V |
probably damaging |
Het |
| Sh3bp1 |
A |
T |
15: 78,789,314 (GRCm39) |
D288V |
possibly damaging |
Het |
| Smpd4 |
T |
C |
16: 17,460,621 (GRCm39) |
I809T |
probably benign |
Het |
| Spata6 |
C |
T |
4: 111,663,125 (GRCm39) |
|
probably benign |
Het |
| Trnau1ap |
C |
A |
4: 132,055,817 (GRCm39) |
V30L |
possibly damaging |
Het |
| Trpm4 |
T |
C |
7: 44,967,773 (GRCm39) |
H386R |
probably benign |
Het |
| Ttc3 |
T |
G |
16: 94,227,620 (GRCm39) |
|
probably null |
Het |
| Ufd1 |
T |
C |
16: 18,643,781 (GRCm39) |
V180A |
possibly damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,899,154 (GRCm39) |
I499V |
probably damaging |
Het |
| Zfp112 |
C |
A |
7: 23,825,021 (GRCm39) |
Q330K |
probably benign |
Het |
| Zfp668 |
G |
A |
7: 127,467,079 (GRCm39) |
R166W |
probably damaging |
Het |
|
| Other mutations in Dapk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02515:Dapk3
|
APN |
10 |
81,025,763 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-04-17 |
Incidental Mutation