Incidental Mutation 'IGL03002:Dapk3'
ID |
407377 |
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 # |
IGL03002
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
81018839-81029031 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 81026437 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 187
(E187*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151577
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047665]
[ENSMUST00000178422]
[ENSMUST00000218157]
[ENSMUST00000219133]
[ENSMUST00000219850]
|
AlphaFold |
O54784 |
Predicted Effect |
probably null
Transcript: ENSMUST00000047665
AA Change: E187*
|
SMART Domains |
Protein: ENSMUSP00000035962 Gene: ENSMUSG00000034974 AA Change: E187*
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 null
Transcript: ENSMUST00000178422
AA Change: E187*
|
SMART Domains |
Protein: ENSMUSP00000137333 Gene: ENSMUSG00000034974 AA Change: E187*
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
AA Change: E187*
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220076
|
Predicted Effect |
probably null
Transcript: ENSMUST00000218227
AA Change: E6*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000219133
AA Change: E187*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000219850
AA Change: E187*
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218698
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219944
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219329
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadl |
T |
C |
1: 66,876,128 (GRCm39) |
I398V |
probably benign |
Het |
Adcy4 |
A |
T |
14: 56,011,013 (GRCm39) |
C635S |
probably benign |
Het |
Aoc1l3 |
A |
G |
6: 48,964,052 (GRCm39) |
H20R |
probably benign |
Het |
Asic4 |
C |
A |
1: 75,427,967 (GRCm39) |
D164E |
possibly damaging |
Het |
C8g |
T |
A |
2: 25,388,823 (GRCm39) |
*203L |
probably null |
Het |
Cad |
T |
C |
5: 31,212,330 (GRCm39) |
V11A |
probably benign |
Het |
Cckar |
T |
C |
5: 53,860,247 (GRCm39) |
N194S |
probably damaging |
Het |
Cdc123 |
T |
C |
2: 5,803,166 (GRCm39) |
|
probably benign |
Het |
Chrm5 |
T |
C |
2: 112,310,706 (GRCm39) |
T137A |
probably damaging |
Het |
Cyp1a1 |
A |
G |
9: 57,609,724 (GRCm39) |
|
probably benign |
Het |
Dmtf1 |
T |
C |
5: 9,190,474 (GRCm39) |
E80G |
probably damaging |
Het |
Dusp19 |
T |
A |
2: 80,461,279 (GRCm39) |
N189K |
probably damaging |
Het |
Gfral |
A |
G |
9: 76,104,520 (GRCm39) |
V164A |
possibly damaging |
Het |
Hk1 |
A |
T |
10: 62,107,578 (GRCm39) |
V799E |
probably damaging |
Het |
Iars2 |
C |
T |
1: 185,055,013 (GRCm39) |
|
probably null |
Het |
Jcad |
T |
A |
18: 4,675,153 (GRCm39) |
Y972N |
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,425,505 (GRCm39) |
D708E |
probably damaging |
Het |
Mbtd1 |
T |
A |
11: 93,815,316 (GRCm39) |
H301Q |
probably benign |
Het |
Med12 |
A |
G |
X: 100,339,461 (GRCm39) |
T2004A |
probably benign |
Het |
Mib1 |
T |
C |
18: 10,798,356 (GRCm39) |
I739T |
possibly damaging |
Het |
Mthfsd |
C |
T |
8: 121,835,018 (GRCm39) |
|
probably benign |
Het |
Mybpc3 |
T |
G |
2: 90,954,234 (GRCm39) |
F369C |
probably damaging |
Het |
Nfatc2 |
C |
T |
2: 168,376,904 (GRCm39) |
V329M |
probably damaging |
Het |
Ngef |
A |
T |
1: 87,437,114 (GRCm39) |
|
probably null |
Het |
Nlrp1b |
T |
C |
11: 71,059,685 (GRCm39) |
E759G |
probably benign |
Het |
Or10aa3 |
C |
A |
1: 173,878,191 (GRCm39) |
T84N |
probably benign |
Het |
Prdm4 |
T |
C |
10: 85,729,016 (GRCm39) |
E790G |
probably benign |
Het |
Psmd12 |
A |
G |
11: 107,376,607 (GRCm39) |
D81G |
probably benign |
Het |
Rnf144b |
A |
G |
13: 47,396,359 (GRCm39) |
H232R |
probably damaging |
Het |
Sec63 |
C |
T |
10: 42,686,905 (GRCm39) |
T475M |
possibly damaging |
Het |
Slc16a4 |
A |
T |
3: 107,208,102 (GRCm39) |
N204I |
probably benign |
Het |
Socs1 |
T |
C |
16: 10,602,404 (GRCm39) |
N111S |
probably damaging |
Het |
Srpra |
A |
G |
9: 35,126,017 (GRCm39) |
N432D |
probably damaging |
Het |
Srrm2 |
A |
G |
17: 24,034,708 (GRCm39) |
|
probably benign |
Het |
Tgoln1 |
A |
G |
6: 72,593,055 (GRCm39) |
S142P |
possibly damaging |
Het |
Trbv13-1 |
A |
G |
6: 41,093,169 (GRCm39) |
N34S |
probably benign |
Het |
Vmn2r26 |
T |
C |
6: 124,016,754 (GRCm39) |
V406A |
possibly damaging |
Het |
Vsig1 |
G |
T |
X: 139,827,088 (GRCm39) |
G79V |
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 |
IGL02515:Dapk3
|
APN |
10 |
81,025,763 (GRCm39) |
splice site |
probably benign |
|
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 |
2016-08-02 |