Incidental Mutation 'IGL00717:Casp12'
| ID |
13342 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Casp12
|
| Ensembl Gene |
ENSMUSG00000025887 |
| Gene Name |
caspase 12 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00717
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
5345430-5373032 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5352702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 175
(T175A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121565
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027009]
[ENSMUST00000151332]
[ENSMUST00000151788]
|
| AlphaFold |
O08736 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027009
AA Change: T175A
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027009
Gene: ENSMUSG00000025887
AA Change: T175A
| Domain | Start | End | E-Value | Type |
|---|
|
CARD
|
1 |
83 |
3.54e-2 |
SMART |
|
CASc
|
165 |
417 |
2.59e-132 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149520
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151332
AA Change: T105A
PolyPhen 2
Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000122201
Gene: ENSMUSG00000025887
AA Change: T105A
| Domain | Start | End | E-Value | Type |
|---|
|
CASc
|
95 |
347 |
2.59e-132 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151788
AA Change: T175A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121565
Gene: ENSMUSG00000025887
AA Change: T175A
| Domain | Start | End | E-Value | Type |
|---|
|
CARD
|
1 |
83 |
3.54e-2 |
SMART |
|
Pfam:Peptidase_C14
|
176 |
230 |
1.1e-8 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mice for some mutations of this gene display resistance to ER stress-induced apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 12 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Daw1 |
A |
T |
1: 83,175,900 (GRCm39) |
I213F |
probably benign |
Het |
| Dmc1 |
A |
G |
15: 79,480,481 (GRCm39) |
M97T |
probably benign |
Het |
| Fanci |
C |
T |
7: 79,062,448 (GRCm39) |
L353F |
probably damaging |
Het |
| Gpr65 |
A |
G |
12: 98,242,314 (GRCm39) |
I322M |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,392,284 (GRCm39) |
D4064G |
probably damaging |
Het |
| Hipk3 |
G |
T |
2: 104,260,576 (GRCm39) |
T1089K |
possibly damaging |
Het |
| Iigp1c |
A |
G |
18: 60,379,365 (GRCm39) |
E300G |
probably damaging |
Het |
| Mia2 |
A |
G |
12: 59,207,059 (GRCm39) |
|
probably benign |
Het |
| Rnf17 |
A |
G |
14: 56,703,207 (GRCm39) |
T653A |
probably benign |
Het |
| Slc22a8 |
T |
A |
19: 8,587,293 (GRCm39) |
I451K |
probably benign |
Het |
| Trpm5 |
A |
T |
7: 142,627,727 (GRCm39) |
V84E |
probably damaging |
Het |
| Vcam1 |
C |
A |
3: 115,908,120 (GRCm39) |
K647N |
possibly damaging |
Het |
|
| Other mutations in Casp12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00667:Casp12
|
APN |
9 |
5,352,665 (GRCm39) |
splice site |
probably null |
|
|
IGL02326:Casp12
|
APN |
9 |
5,358,317 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0016:Casp12
|
UTSW |
9 |
5,352,844 (GRCm39) |
missense |
probably null |
0.01 |
|
R0016:Casp12
|
UTSW |
9 |
5,352,844 (GRCm39) |
missense |
probably null |
0.01 |
|
R0329:Casp12
|
UTSW |
9 |
5,345,534 (GRCm39) |
splice site |
probably benign |
|
|
R0392:Casp12
|
UTSW |
9 |
5,348,973 (GRCm39) |
splice site |
probably benign |
|
|
R0584:Casp12
|
UTSW |
9 |
5,352,268 (GRCm39) |
missense |
probably null |
0.00 |
|
R0609:Casp12
|
UTSW |
9 |
5,346,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1099:Casp12
|
UTSW |
9 |
5,352,204 (GRCm39) |
missense |
probably benign |
|
|
R1951:Casp12
|
UTSW |
9 |
5,348,959 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2034:Casp12
|
UTSW |
9 |
5,346,491 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4208:Casp12
|
UTSW |
9 |
5,346,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4558:Casp12
|
UTSW |
9 |
5,352,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4592:Casp12
|
UTSW |
9 |
5,352,923 (GRCm39) |
intron |
probably benign |
|
|
R4597:Casp12
|
UTSW |
9 |
5,348,941 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4913:Casp12
|
UTSW |
9 |
5,358,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Casp12
|
UTSW |
9 |
5,352,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5495:Casp12
|
UTSW |
9 |
5,353,797 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5777:Casp12
|
UTSW |
9 |
5,354,548 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6641:Casp12
|
UTSW |
9 |
5,354,612 (GRCm39) |
missense |
probably benign |
|
|
R7159:Casp12
|
UTSW |
9 |
5,353,763 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7320:Casp12
|
UTSW |
9 |
5,348,897 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7349:Casp12
|
UTSW |
9 |
5,345,527 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7636:Casp12
|
UTSW |
9 |
5,358,344 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7695:Casp12
|
UTSW |
9 |
5,353,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7819:Casp12
|
UTSW |
9 |
5,352,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8071:Casp12
|
UTSW |
9 |
5,346,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8417:Casp12
|
UTSW |
9 |
5,352,263 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8503:Casp12
|
UTSW |
9 |
5,346,739 (GRCm39) |
splice site |
probably benign |
|
|
R8514:Casp12
|
UTSW |
9 |
5,352,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9573:Casp12
|
UTSW |
9 |
5,354,629 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Casp12
|
UTSW |
9 |
5,354,582 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Posted On |
2012-12-06 |
Incidental Mutation