Incidental Mutation 'R1099:Casp12'
ID |
97915 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Casp12
|
Ensembl Gene |
ENSMUSG00000025887 |
Gene Name |
caspase 12 |
Synonyms |
|
MMRRC Submission |
039173-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1099 (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 5352204 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 135
(H135Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121565
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027009]
[ENSMUST00000151332]
[ENSMUST00000151788]
|
AlphaFold |
O08736 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027009
AA Change: H135Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000027009 Gene: ENSMUSG00000025887 AA Change: H135Q
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: H65Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000122201 Gene: ENSMUSG00000025887 AA Change: H65Q
Domain | Start | End | E-Value | Type |
CASc
|
95 |
347 |
2.59e-132 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151788
AA Change: H135Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000121565 Gene: ENSMUSG00000025887 AA Change: H135Q
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: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.1%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
Abca7 |
G |
T |
10: 79,849,577 (GRCm39) |
E1921* |
probably null |
Het |
Acnat2 |
G |
A |
4: 49,380,484 (GRCm39) |
T298I |
probably benign |
Het |
Agbl4 |
T |
C |
4: 110,812,860 (GRCm39) |
|
probably null |
Het |
Angpt2 |
T |
A |
8: 18,749,149 (GRCm39) |
T323S |
probably damaging |
Het |
Ano2 |
A |
G |
6: 125,784,810 (GRCm39) |
K299R |
probably damaging |
Het |
Armc2 |
G |
T |
10: 41,793,183 (GRCm39) |
Q814K |
probably benign |
Het |
Atp9b |
A |
C |
18: 80,901,841 (GRCm39) |
I263S |
probably damaging |
Het |
Cadps2 |
A |
G |
6: 23,599,478 (GRCm39) |
I276T |
probably damaging |
Het |
Ccdc180 |
A |
G |
4: 45,914,225 (GRCm39) |
I621V |
probably benign |
Het |
Cd160 |
G |
A |
3: 96,713,156 (GRCm39) |
A36V |
probably damaging |
Het |
Ctcfl |
A |
T |
2: 172,954,153 (GRCm39) |
C315S |
probably damaging |
Het |
Egflam |
A |
G |
15: 7,281,903 (GRCm39) |
V411A |
probably benign |
Het |
Ezh1 |
T |
C |
11: 101,084,634 (GRCm39) |
|
probably null |
Het |
Fam171a1 |
T |
A |
2: 3,226,354 (GRCm39) |
S371T |
probably benign |
Het |
Hspbap1 |
T |
G |
16: 35,645,314 (GRCm39) |
F333C |
probably damaging |
Het |
Ky |
G |
C |
9: 102,414,923 (GRCm39) |
W278C |
probably damaging |
Het |
Lrig3 |
T |
A |
10: 125,842,883 (GRCm39) |
|
probably null |
Het |
Map3k6 |
A |
T |
4: 132,974,439 (GRCm39) |
S580C |
probably damaging |
Het |
Mark2 |
T |
C |
19: 7,254,790 (GRCm39) |
T219A |
probably benign |
Het |
Mbd5 |
A |
G |
2: 49,148,156 (GRCm39) |
I789V |
probably benign |
Het |
Myo18a |
T |
A |
11: 77,709,727 (GRCm39) |
|
probably null |
Het |
Nos1 |
A |
G |
5: 118,061,460 (GRCm39) |
T929A |
probably damaging |
Het |
Or2a20 |
T |
C |
6: 43,194,558 (GRCm39) |
F237S |
probably damaging |
Het |
Or2z9 |
T |
A |
8: 72,854,503 (GRCm39) |
S300T |
probably benign |
Het |
Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
Palmd |
T |
C |
3: 116,716,874 (GRCm39) |
N541S |
possibly damaging |
Het |
Pdzd2 |
A |
G |
15: 12,373,173 (GRCm39) |
S2321P |
probably damaging |
Het |
Prdm8 |
T |
G |
5: 98,331,361 (GRCm39) |
I71S |
probably damaging |
Het |
Prkg1 |
A |
C |
19: 30,549,012 (GRCm39) |
S654R |
probably benign |
Het |
Psmf1 |
A |
T |
2: 151,560,590 (GRCm39) |
H260Q |
probably damaging |
Het |
Rp1 |
A |
T |
1: 4,422,513 (GRCm39) |
I179N |
possibly damaging |
Het |
Rreb1 |
A |
G |
13: 38,132,867 (GRCm39) |
K1681E |
probably benign |
Het |
Rtn1 |
A |
T |
12: 72,351,241 (GRCm39) |
|
probably null |
Het |
Scaf4 |
T |
A |
16: 90,059,986 (GRCm39) |
I37F |
unknown |
Het |
Sema4c |
A |
G |
1: 36,591,191 (GRCm39) |
S383P |
probably damaging |
Het |
Shc4 |
G |
T |
2: 125,564,764 (GRCm39) |
D178E |
probably benign |
Het |
Slc2a5 |
A |
G |
4: 150,226,636 (GRCm39) |
N366S |
probably benign |
Het |
Slc6a3 |
A |
G |
13: 73,715,760 (GRCm39) |
N465S |
probably benign |
Het |
Tbc1d9b |
C |
A |
11: 50,037,135 (GRCm39) |
D261E |
probably benign |
Het |
Tdrd3 |
A |
T |
14: 87,724,675 (GRCm39) |
T359S |
probably damaging |
Het |
Thap3 |
T |
C |
4: 152,067,788 (GRCm39) |
M97V |
probably benign |
Het |
Thg1l |
T |
A |
11: 45,844,988 (GRCm39) |
Q88L |
possibly damaging |
Het |
Tjp3 |
T |
C |
10: 81,109,657 (GRCm39) |
T849A |
probably benign |
Het |
Tomm70a |
G |
T |
16: 56,963,180 (GRCm39) |
D400Y |
probably damaging |
Het |
Trak2 |
T |
C |
1: 58,961,000 (GRCm39) |
I177V |
probably benign |
Het |
Trim66 |
T |
C |
7: 109,074,661 (GRCm39) |
I533M |
probably benign |
Het |
Ush2a |
T |
A |
1: 188,380,545 (GRCm39) |
Y2285N |
probably benign |
Het |
Ush2a |
C |
T |
1: 188,596,836 (GRCm39) |
P3859S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTTTCCTTCACTGGAATGGCCTG -3'
(R):5'- GGAGCTGTGCTCTGCTGATGAAATG -3'
Sequencing Primer
(F):5'- TGGCCTGAAAGGCTATCCAAG -3'
(R):5'- GATGAGCACCACTTGATTAGATG -3'
|
Posted On |
2014-01-05 |