Incidental Mutation 'R6641:Casp12'
| ID |
525803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casp12
|
| Ensembl Gene |
ENSMUSG00000025887 |
| Gene Name |
caspase 12 |
| Synonyms |
|
| MMRRC Submission |
044762-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6641 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
5345430-5373032 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 5354612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 257
(C257Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027009]
[ENSMUST00000151332]
[ENSMUST00000151788]
|
| AlphaFold |
O08736 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027009
AA Change: C327Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027009
Gene: ENSMUSG00000025887
AA Change: C327Y
| 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: C257Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122201
Gene: ENSMUSG00000025887
AA Change: C257Y
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
100% (32/32) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
C |
T |
16: 88,555,974 (GRCm39) |
P63S |
unknown |
Het |
| Aadac |
T |
C |
3: 59,947,153 (GRCm39) |
S284P |
probably damaging |
Het |
| Chil6 |
T |
A |
3: 106,296,240 (GRCm39) |
I361F |
possibly damaging |
Het |
| Cubn |
A |
C |
2: 13,480,875 (GRCm39) |
S327A |
probably damaging |
Het |
| Desi2 |
A |
T |
1: 178,071,943 (GRCm39) |
E82D |
possibly damaging |
Het |
| Dym |
T |
A |
18: 75,189,712 (GRCm39) |
I100N |
probably damaging |
Het |
| Gm14418 |
G |
T |
2: 177,079,623 (GRCm39) |
T124K |
probably benign |
Het |
| Gm28042 |
T |
A |
2: 119,870,164 (GRCm39) |
I701N |
probably damaging |
Het |
| Gm3404 |
C |
A |
5: 146,464,518 (GRCm39) |
A173D |
probably damaging |
Het |
| Hipk1 |
A |
T |
3: 103,660,721 (GRCm39) |
L738Q |
probably damaging |
Het |
| Klk10 |
G |
T |
7: 43,434,324 (GRCm39) |
D239Y |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,132 (GRCm39) |
|
probably benign |
Het |
| Lepr |
T |
A |
4: 101,622,502 (GRCm39) |
D427E |
probably damaging |
Het |
| Lrp5 |
G |
A |
19: 3,702,287 (GRCm39) |
R177W |
probably damaging |
Het |
| Mtg2 |
A |
G |
2: 179,727,301 (GRCm39) |
T318A |
probably benign |
Het |
| Myh7 |
A |
G |
14: 55,219,737 (GRCm39) |
V1044A |
probably benign |
Het |
| Nrsn2 |
A |
G |
2: 152,211,830 (GRCm39) |
V67A |
probably benign |
Het |
| Or2b11 |
T |
C |
11: 59,461,666 (GRCm39) |
D300G |
possibly damaging |
Het |
| Pcdha8 |
A |
G |
18: 37,126,850 (GRCm39) |
E444G |
probably damaging |
Het |
| Pdgfra |
T |
C |
5: 75,322,762 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,939,460 (GRCm39) |
|
probably null |
Het |
| Prpf40a |
T |
G |
2: 53,031,638 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
C |
5: 22,134,132 (GRCm39) |
Y2599D |
probably damaging |
Het |
| Septin11 |
T |
A |
5: 93,287,411 (GRCm39) |
I42N |
probably damaging |
Het |
| Slc22a15 |
G |
A |
3: 101,783,022 (GRCm39) |
A216V |
possibly damaging |
Het |
| Slc33a1 |
T |
A |
3: 63,861,327 (GRCm39) |
T292S |
probably benign |
Het |
| Slc5a11 |
A |
G |
7: 122,837,378 (GRCm39) |
K56R |
probably benign |
Het |
| Slc7a13 |
G |
A |
4: 19,839,534 (GRCm39) |
G379E |
probably damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,971,245 (GRCm39) |
I193V |
possibly damaging |
Het |
| Specc1l |
A |
G |
10: 75,082,383 (GRCm39) |
E593G |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,626,059 (GRCm39) |
M1169K |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Vipr1 |
A |
G |
9: 121,498,631 (GRCm39) |
*460W |
probably null |
Het |
| Zbtb18 |
T |
A |
1: 177,275,609 (GRCm39) |
L323Q |
probably damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,641,270 (GRCm39) |
S129P |
probably benign |
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 |
|
R5777:Casp12
|
UTSW |
9 |
5,354,548 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- CCATGCAACATTTCCACATAGG -3'
(R):5'- ACAGTACATGCCTAGGCCTAG -3'
Sequencing Primer
(F):5'- GCAACATTTCCACATAGGTATTTGC -3'
(R):5'- AGGCCTAGGATTTTTCACCG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation