Incidental Mutation 'R5777:Casp12'
ID |
446766 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Casp12
|
Ensembl Gene |
ENSMUSG00000025887 |
Gene Name |
caspase 12 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5777 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
5345430-5373032 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 5354548 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 306
(I306F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027009
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027009]
[ENSMUST00000151332]
[ENSMUST00000151788]
|
AlphaFold |
O08736 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027009
AA Change: I306F
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000027009 Gene: ENSMUSG00000025887 AA Change: I306F
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 |
probably benign
Transcript: ENSMUST00000151332
AA Change: I236F
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000122201 Gene: ENSMUSG00000025887 AA Change: I236F
Domain | Start | End | E-Value | Type |
CASc
|
95 |
347 |
2.59e-132 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151788
|
SMART Domains |
Protein: ENSMUSP00000121565 Gene: ENSMUSG00000025887
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agrp |
T |
C |
8: 106,294,000 (GRCm39) |
E41G |
probably benign |
Het |
Amph |
A |
T |
13: 19,230,186 (GRCm39) |
N45Y |
probably damaging |
Het |
Atp11a |
T |
A |
8: 12,882,522 (GRCm39) |
L470Q |
probably damaging |
Het |
C130073F10Rik |
T |
A |
4: 101,747,946 (GRCm39) |
Y76F |
possibly damaging |
Het |
Cobll1 |
A |
T |
2: 64,933,612 (GRCm39) |
M460K |
probably benign |
Het |
Col6a4 |
A |
T |
9: 105,890,895 (GRCm39) |
L1800I |
possibly damaging |
Het |
Ctdsp1 |
T |
C |
1: 74,433,227 (GRCm39) |
V131A |
probably damaging |
Het |
Ctnna3 |
A |
G |
10: 64,511,664 (GRCm39) |
H618R |
probably benign |
Het |
Dhx38 |
C |
A |
8: 110,283,534 (GRCm39) |
V538L |
possibly damaging |
Het |
Dtwd1 |
A |
G |
2: 126,001,733 (GRCm39) |
D151G |
probably damaging |
Het |
Fbxw28 |
A |
G |
9: 109,167,604 (GRCm39) |
L51P |
probably damaging |
Het |
Gm4781 |
C |
T |
10: 100,232,831 (GRCm39) |
|
noncoding transcript |
Het |
Gm5134 |
C |
A |
10: 75,840,594 (GRCm39) |
F479L |
probably benign |
Het |
H2bc27 |
A |
G |
11: 58,839,835 (GRCm39) |
K24E |
probably benign |
Het |
Hexa |
T |
G |
9: 59,468,243 (GRCm39) |
V290G |
probably damaging |
Het |
Ifi206 |
C |
T |
1: 173,308,928 (GRCm39) |
R356K |
possibly damaging |
Het |
Kcnj12 |
G |
A |
11: 60,961,277 (GRCm39) |
R525Q |
possibly damaging |
Het |
Lrp2 |
A |
T |
2: 69,285,869 (GRCm39) |
I3774N |
probably damaging |
Het |
Msh4 |
C |
A |
3: 153,569,076 (GRCm39) |
M832I |
probably benign |
Het |
Myh10 |
A |
G |
11: 68,676,685 (GRCm39) |
E852G |
probably damaging |
Het |
Ndufaf1 |
A |
T |
2: 119,490,963 (GRCm39) |
C32* |
probably null |
Het |
Nos2 |
A |
G |
11: 78,830,978 (GRCm39) |
E387G |
probably null |
Het |
Or4f58 |
C |
T |
2: 111,851,876 (GRCm39) |
G108R |
probably damaging |
Het |
Or55b10 |
A |
G |
7: 102,143,178 (GRCm39) |
V268A |
probably benign |
Het |
Or5h27 |
T |
A |
16: 59,006,266 (GRCm39) |
L193F |
unknown |
Het |
Or7a36 |
A |
C |
10: 78,820,512 (GRCm39) |
D296A |
possibly damaging |
Het |
Or7g29 |
A |
T |
9: 19,287,014 (GRCm39) |
H54Q |
probably benign |
Het |
Or8j3c |
A |
G |
2: 86,253,669 (GRCm39) |
V117A |
probably benign |
Het |
P3h3 |
T |
C |
6: 124,832,921 (GRCm39) |
T211A |
probably benign |
Het |
Pcdh7 |
A |
G |
5: 57,876,856 (GRCm39) |
N137S |
probably damaging |
Het |
Pgf |
T |
C |
12: 85,216,148 (GRCm39) |
T157A |
possibly damaging |
Het |
Prex1 |
T |
C |
2: 166,428,579 (GRCm39) |
D714G |
probably damaging |
Het |
Scn7a |
T |
C |
2: 66,522,913 (GRCm39) |
I930M |
probably damaging |
Het |
Siglecg |
T |
C |
7: 43,058,837 (GRCm39) |
S197P |
possibly damaging |
Het |
Skint7 |
T |
A |
4: 111,845,289 (GRCm39) |
I367N |
probably benign |
Het |
Slfn5 |
A |
T |
11: 82,851,830 (GRCm39) |
D652V |
probably damaging |
Het |
Stx1b |
G |
A |
7: 127,410,090 (GRCm39) |
Q3* |
probably null |
Het |
Tex35 |
T |
C |
1: 156,934,777 (GRCm39) |
M46V |
probably benign |
Het |
Tkt |
A |
C |
14: 30,280,733 (GRCm39) |
T55P |
possibly damaging |
Het |
Trim30c |
T |
C |
7: 104,032,538 (GRCm39) |
R263G |
probably benign |
Het |
U2af2 |
G |
A |
7: 5,069,450 (GRCm39) |
R33Q |
probably benign |
Het |
Washc4 |
T |
A |
10: 83,391,469 (GRCm39) |
V182D |
probably damaging |
Het |
Xirp2 |
T |
C |
2: 67,340,348 (GRCm39) |
V863A |
possibly damaging |
Het |
Zfp976 |
T |
G |
7: 42,263,504 (GRCm39) |
H111P |
probably benign |
Het |
Zfp982 |
A |
T |
4: 147,595,321 (GRCm39) |
N48Y |
probably 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 |
|
IGL00717:Casp12
|
APN |
9 |
5,352,702 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGTGTGCACAAGGATACC -3'
(R):5'- TCCACAGTACATGCCTAGGC -3'
Sequencing Primer
(F):5'- CATGCAACATTTCCACATAGG -3'
(R):5'- AGGCCTAGGATTTTTCACCG -3'
|
Posted On |
2016-12-15 |