Incidental Mutation 'IGL02329:Dapk3'
| ID |
288598 |
| 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 # |
IGL02329
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
81018839-81029031 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81025999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 97
(S97P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047665]
[ENSMUST00000178422]
[ENSMUST00000218157]
[ENSMUST00000219133]
[ENSMUST00000219850]
|
| AlphaFold |
O54784 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047665
AA Change: S97P
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000035962
Gene: ENSMUSG00000034974
AA Change: S97P
| 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
AA Change: S97P
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000137333
Gene: ENSMUSG00000034974
AA Change: S97P
| 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
AA Change: S97P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219133
AA Change: S97P
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218698
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219850
AA Change: S97P
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219329
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219944
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218227
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg2a |
T |
C |
19: 6,299,959 (GRCm39) |
|
probably null |
Het |
| Bfsp1 |
T |
C |
2: 143,704,566 (GRCm39) |
T96A |
probably benign |
Het |
| Btnl1 |
A |
G |
17: 34,601,239 (GRCm39) |
E322G |
possibly damaging |
Het |
| Cand2 |
T |
C |
6: 115,766,568 (GRCm39) |
V391A |
probably damaging |
Het |
| Ccdc169 |
A |
G |
3: 55,078,702 (GRCm39) |
M188V |
probably benign |
Het |
| Cngb1 |
T |
C |
8: 95,968,987 (GRCm39) |
I1174V |
probably benign |
Het |
| Cpeb4 |
T |
C |
11: 31,822,316 (GRCm39) |
V10A |
possibly damaging |
Het |
| Cpt1b |
T |
C |
15: 89,307,942 (GRCm39) |
T206A |
probably benign |
Het |
| Drc3 |
T |
C |
11: 60,261,404 (GRCm39) |
L185P |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,042,923 (GRCm39) |
|
probably null |
Het |
| Erbb3 |
T |
A |
10: 128,409,088 (GRCm39) |
I742F |
probably damaging |
Het |
| Fktn |
A |
G |
4: 53,720,181 (GRCm39) |
Y65C |
probably benign |
Het |
| Fstl5 |
G |
A |
3: 76,496,302 (GRCm39) |
G355D |
probably damaging |
Het |
| Grm8 |
A |
T |
6: 27,363,115 (GRCm39) |
I800N |
probably damaging |
Het |
| Gss |
C |
T |
2: 155,409,773 (GRCm39) |
R221H |
probably benign |
Het |
| H2-M10.4 |
A |
T |
17: 36,771,359 (GRCm39) |
V273D |
probably damaging |
Het |
| Large1 |
C |
A |
8: 73,774,945 (GRCm39) |
W255L |
possibly damaging |
Het |
| Meig1 |
T |
C |
2: 3,410,288 (GRCm39) |
K71E |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,619,396 (GRCm39) |
N1760D |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,166,781 (GRCm39) |
N24K |
probably damaging |
Het |
| Nphp3 |
A |
C |
9: 103,903,167 (GRCm39) |
S715R |
probably benign |
Het |
| Papolg |
T |
G |
11: 23,841,869 (GRCm39) |
H18P |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,308,098 (GRCm39) |
H667R |
possibly damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Rtp1 |
T |
C |
16: 23,249,943 (GRCm39) |
S103P |
probably damaging |
Het |
| Snx21 |
T |
C |
2: 164,634,310 (GRCm39) |
|
probably benign |
Het |
| Spmip3 |
A |
T |
1: 177,570,867 (GRCm39) |
Q67L |
probably benign |
Het |
| Tiam1 |
G |
T |
16: 89,596,924 (GRCm39) |
H301N |
probably benign |
Het |
| Trcg1 |
A |
T |
9: 57,147,676 (GRCm39) |
I11F |
possibly damaging |
Het |
| Trpm6 |
A |
G |
19: 18,831,581 (GRCm39) |
K1482R |
probably benign |
Het |
| Tyw1 |
G |
T |
5: 130,295,921 (GRCm39) |
G116V |
probably benign |
Het |
| Zfp341 |
T |
C |
2: 154,474,224 (GRCm39) |
C343R |
possibly 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 |
|
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 |
2015-04-16 |
Incidental Mutation