Incidental Mutation 'IGL00401:Dapk2'
| ID |
6162 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dapk2
|
| Ensembl Gene |
ENSMUSG00000032380 |
| Gene Name |
death-associated protein kinase 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00401
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
66065505-66179524 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 66176060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034944]
|
| AlphaFold |
Q8VDF3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034944
|
| SMART Domains |
Protein: ENSMUSP00000034944
Gene: ENSMUSG00000032380
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
23 |
285 |
6.26e-98 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129778
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132987
|
| SMART Domains |
Protein: ENSMUSP00000117134
Gene: ENSMUSG00000032380
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
52 |
2e-14 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
53 |
1.7e-9 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with significant similarity to that of death-associated protein kinase 1 (DAPK1), a positive regulator of programmed cell death. Overexpression of this gene was shown to induce cell apoptosis. It uses multiple polyadenylation sites. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
T |
A |
17: 72,202,743 (GRCm39) |
D1164V |
probably damaging |
Het |
| Baiap3 |
T |
G |
17: 25,463,302 (GRCm39) |
L964F |
probably damaging |
Het |
| Cacna2d2 |
T |
A |
9: 107,392,072 (GRCm39) |
V471E |
probably damaging |
Het |
| Carmil3 |
C |
T |
14: 55,735,755 (GRCm39) |
T569M |
probably damaging |
Het |
| Eps15l1 |
A |
T |
8: 73,138,682 (GRCm39) |
Y291* |
probably null |
Het |
| Fancd2 |
T |
C |
6: 113,541,357 (GRCm39) |
|
probably null |
Het |
| Fmnl2 |
T |
G |
2: 53,004,929 (GRCm39) |
D674E |
probably damaging |
Het |
| Foxq1 |
A |
T |
13: 31,743,260 (GRCm39) |
I121F |
probably damaging |
Het |
| Galnt13 |
C |
T |
2: 54,406,547 (GRCm39) |
|
probably benign |
Het |
| Git1 |
T |
C |
11: 77,389,782 (GRCm39) |
|
probably benign |
Het |
| Gm10220 |
A |
T |
5: 26,323,609 (GRCm39) |
F146Y |
possibly damaging |
Het |
| Gm7353 |
A |
G |
7: 3,160,630 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa9 |
G |
A |
18: 35,071,633 (GRCm39) |
|
probably benign |
Het |
| Kptn |
A |
G |
7: 15,854,050 (GRCm39) |
D56G |
possibly damaging |
Het |
| Krtap4-13 |
A |
T |
11: 99,700,543 (GRCm39) |
C39S |
unknown |
Het |
| Lgsn |
A |
G |
1: 31,242,647 (GRCm39) |
K243R |
possibly damaging |
Het |
| Lyz2 |
C |
T |
10: 117,118,090 (GRCm39) |
V20I |
probably benign |
Het |
| Mettl3 |
T |
A |
14: 52,534,424 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
T |
A |
14: 55,190,874 (GRCm39) |
M934L |
probably benign |
Het |
| Nmnat2 |
A |
G |
1: 152,969,863 (GRCm39) |
|
probably null |
Het |
| Pias2 |
T |
A |
18: 77,220,907 (GRCm39) |
C381S |
probably damaging |
Het |
| Psme4 |
T |
C |
11: 30,771,079 (GRCm39) |
|
probably benign |
Het |
| Smc4 |
T |
A |
3: 68,937,712 (GRCm39) |
D887E |
probably damaging |
Het |
| Sorcs2 |
C |
A |
5: 36,194,745 (GRCm39) |
|
probably null |
Het |
| Tet2 |
T |
C |
3: 133,172,643 (GRCm39) |
E1873G |
possibly damaging |
Het |
| Txlng |
T |
A |
X: 161,565,305 (GRCm39) |
K341* |
probably null |
Het |
| Ugt2b37 |
T |
A |
5: 87,390,340 (GRCm39) |
T369S |
possibly damaging |
Het |
| Usp46 |
C |
A |
5: 74,163,832 (GRCm39) |
V302F |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,808,683 (GRCm39) |
C1454R |
probably benign |
Het |
|
| Other mutations in Dapk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01304:Dapk2
|
APN |
9 |
66,139,139 (GRCm39) |
splice site |
probably benign |
|
|
IGL02053:Dapk2
|
APN |
9 |
66,128,027 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02351:Dapk2
|
APN |
9 |
66,153,805 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02358:Dapk2
|
APN |
9 |
66,153,805 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02736:Dapk2
|
APN |
9 |
66,176,198 (GRCm39) |
missense |
probably benign |
|
|
IGL02742:Dapk2
|
APN |
9 |
66,139,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4618001:Dapk2
|
UTSW |
9 |
66,175,968 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0367:Dapk2
|
UTSW |
9 |
66,176,168 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1375:Dapk2
|
UTSW |
9 |
66,127,925 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1376:Dapk2
|
UTSW |
9 |
66,127,925 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1376:Dapk2
|
UTSW |
9 |
66,127,925 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1752:Dapk2
|
UTSW |
9 |
66,127,925 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1924:Dapk2
|
UTSW |
9 |
66,072,642 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1981:Dapk2
|
UTSW |
9 |
66,176,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3160:Dapk2
|
UTSW |
9 |
66,161,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3161:Dapk2
|
UTSW |
9 |
66,161,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3162:Dapk2
|
UTSW |
9 |
66,161,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3162:Dapk2
|
UTSW |
9 |
66,161,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5394:Dapk2
|
UTSW |
9 |
66,176,000 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6750:Dapk2
|
UTSW |
9 |
66,128,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6951:Dapk2
|
UTSW |
9 |
66,161,904 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6952:Dapk2
|
UTSW |
9 |
66,161,904 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6953:Dapk2
|
UTSW |
9 |
66,161,904 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8304:Dapk2
|
UTSW |
9 |
66,139,027 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8987:Dapk2
|
UTSW |
9 |
66,157,602 (GRCm39) |
intron |
probably benign |
|
|
Z1088:Dapk2
|
UTSW |
9 |
66,153,759 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
| Posted On |
2012-04-20 |
Incidental Mutation