Incidental Mutation 'R5495:Casp12'
ID |
432295 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Casp12
|
Ensembl Gene |
ENSMUSG00000025887 |
Gene Name |
caspase 12 |
Synonyms |
|
MMRRC Submission |
043056-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5495 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
5345430-5373032 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 5353797 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 277
(I277N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027009
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027009]
[ENSMUST00000151332]
[ENSMUST00000151788]
|
AlphaFold |
O08736 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027009
AA Change: I277N
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000027009 Gene: ENSMUSG00000025887 AA Change: I277N
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: I207N
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000122201 Gene: ENSMUSG00000025887 AA Change: I207N
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: 98.4%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.4%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt2 |
T |
C |
7: 27,335,594 (GRCm39) |
|
probably null |
Het |
Arhgap29 |
T |
G |
3: 121,808,578 (GRCm39) |
M844R |
probably damaging |
Het |
Atp1a1 |
T |
G |
3: 101,498,741 (GRCm39) |
D184A |
probably benign |
Het |
Bcl11a |
T |
A |
11: 24,115,042 (GRCm39) |
V795E |
possibly damaging |
Het |
Ccdc59 |
A |
G |
10: 105,681,239 (GRCm39) |
K164E |
probably damaging |
Het |
D630003M21Rik |
C |
T |
2: 158,062,431 (GRCm39) |
G30S |
possibly damaging |
Het |
Dgkd |
A |
G |
1: 87,854,594 (GRCm39) |
D632G |
probably damaging |
Het |
Efr3a |
A |
G |
15: 65,687,258 (GRCm39) |
K56E |
possibly damaging |
Het |
Egflam |
T |
A |
15: 7,280,722 (GRCm39) |
R434S |
probably damaging |
Het |
Fancl |
C |
G |
11: 26,347,801 (GRCm39) |
A51G |
probably damaging |
Het |
Fkbp7 |
T |
C |
2: 76,493,638 (GRCm39) |
Y185C |
probably damaging |
Het |
Galc |
A |
G |
12: 98,197,673 (GRCm39) |
|
probably null |
Het |
Galnt15 |
A |
G |
14: 31,751,774 (GRCm39) |
S109G |
probably damaging |
Het |
Gramd2b |
T |
C |
18: 56,615,694 (GRCm39) |
I163T |
probably damaging |
Het |
Impa1 |
A |
G |
3: 10,391,230 (GRCm39) |
V80A |
probably benign |
Het |
Itga10 |
T |
C |
3: 96,554,687 (GRCm39) |
M56T |
possibly damaging |
Het |
Larp1b |
G |
T |
3: 40,990,257 (GRCm39) |
R135I |
probably damaging |
Het |
Lgals12 |
C |
T |
19: 7,581,495 (GRCm39) |
A71T |
probably damaging |
Het |
Lmbr1 |
A |
T |
5: 29,551,851 (GRCm39) |
L78* |
probably null |
Het |
Lrat |
C |
A |
3: 82,804,289 (GRCm39) |
M229I |
probably benign |
Het |
Mug2 |
A |
T |
6: 122,056,609 (GRCm39) |
M1185L |
probably damaging |
Het |
Naprt |
T |
C |
15: 75,765,696 (GRCm39) |
|
probably null |
Het |
Nfat5 |
A |
G |
8: 108,095,079 (GRCm39) |
I1107V |
probably benign |
Het |
Nr4a2 |
T |
C |
2: 57,002,387 (GRCm39) |
Y22C |
probably damaging |
Het |
Ogfod1 |
C |
A |
8: 94,790,906 (GRCm39) |
Q526K |
probably benign |
Het |
Or2d4 |
C |
A |
7: 106,543,699 (GRCm39) |
G170* |
probably null |
Het |
Or3a10 |
G |
A |
11: 73,935,611 (GRCm39) |
T163I |
probably damaging |
Het |
Or4p21 |
T |
C |
2: 88,276,401 (GRCm39) |
T294A |
probably benign |
Het |
Or8g36 |
T |
C |
9: 39,422,441 (GRCm39) |
T192A |
probably benign |
Het |
Parp10 |
T |
G |
15: 76,127,366 (GRCm39) |
I24L |
probably benign |
Het |
Pcdha11 |
A |
G |
18: 37,144,079 (GRCm39) |
T57A |
probably benign |
Het |
Prdm8 |
A |
G |
5: 98,333,165 (GRCm39) |
E244G |
possibly damaging |
Het |
Prl6a1 |
T |
C |
13: 27,496,654 (GRCm39) |
S3P |
possibly damaging |
Het |
Rab11fip3 |
T |
A |
17: 26,235,117 (GRCm39) |
T18S |
probably damaging |
Het |
Rfc4 |
T |
C |
16: 22,941,004 (GRCm39) |
|
probably benign |
Het |
Rubcnl |
G |
T |
14: 75,279,777 (GRCm39) |
V387F |
possibly damaging |
Het |
S100a7l2 |
A |
T |
3: 90,997,602 (GRCm39) |
L38M |
possibly damaging |
Het |
Serpinb12 |
T |
C |
1: 106,884,151 (GRCm39) |
L299P |
probably damaging |
Het |
Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
Taar4 |
A |
T |
10: 23,837,181 (GRCm39) |
I264F |
possibly damaging |
Het |
Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
Thsd7b |
T |
A |
1: 129,523,570 (GRCm39) |
H124Q |
probably damaging |
Het |
Ugt1a6a |
A |
T |
1: 88,066,746 (GRCm39) |
Q184L |
probably benign |
Het |
Vnn1 |
T |
A |
10: 23,774,462 (GRCm39) |
F168L |
probably damaging |
Het |
Zan |
A |
G |
5: 137,468,670 (GRCm39) |
L267P |
probably damaging |
Het |
Zswim8 |
A |
G |
14: 20,772,354 (GRCm39) |
S1621G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCCAAATTGCTTGACTGATAG -3'
(R):5'- TCTTTTGGCCTGGACACACC -3'
Sequencing Primer
(F):5'- AGAATTCATTGGGTTTGACTCTAGAG -3'
(R):5'- TGGACACACCAGTAGTACTAAAATG -3'
|
Posted On |
2016-10-05 |