Incidental Mutation 'IGL01627:Casp9'
| ID |
92824 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Casp9
|
| Ensembl Gene |
ENSMUSG00000028914 |
| Gene Name |
caspase 9 |
| Synonyms |
Caspase-9, Mch6, ICE-LAP6 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01627
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
141520923-141543287 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 141532853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121331
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030747]
[ENSMUST00000097805]
[ENSMUST00000153094]
|
| AlphaFold |
Q8C3Q9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030747
|
| SMART Domains |
Protein: ENSMUSP00000030747
Gene: ENSMUSG00000028914
| Domain | Start | End | E-Value | Type |
|---|
|
CARD
|
1 |
91 |
2.99e-32 |
SMART |
|
CASc
|
190 |
453 |
4.64e-111 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097805
|
| SMART Domains |
Protein: ENSMUSP00000095414
Gene: ENSMUSG00000028914
| Domain | Start | End | E-Value | Type |
|---|
|
CARD
|
1 |
91 |
2.99e-32 |
SMART |
|
CASc
|
190 |
402 |
6.58e-52 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153094
|
| SMART Domains |
Protein: ENSMUSP00000121331
Gene: ENSMUSG00000028914
| Domain | Start | End | E-Value | Type |
|---|
|
CARD
|
1 |
90 |
3.83e-30 |
SMART |
|
PDB:2AR9|D
|
182 |
214 |
6e-10 |
PDB |
|
Blast:CASc
|
189 |
215 |
2e-10 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene is part of a family of caspases, aspartate-specific cysteine proteases well studied for their involvement in immune and apoptosis signaling. This protein, the initiator caspase, is activated after cytochrome c release from mitochondria and targets downstream effectors. In mouse, deficiency of this gene can cause perinatal lethality. This protein may have a role in normal brain development. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous targeted mutants die perinatally with enlarged and malformed cerebrums caused by reduced apoptosis during brain development. Broad system- and stimulus-dependent effects are seen on 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 |
|---|
| Adgra2 |
G |
A |
8: 27,608,761 (GRCm39) |
A540T |
possibly damaging |
Het |
| Ccdc186 |
G |
A |
19: 56,780,452 (GRCm39) |
T864I |
probably damaging |
Het |
| Cgas |
A |
T |
9: 78,349,996 (GRCm39) |
V57E |
possibly damaging |
Het |
| Chek1 |
T |
A |
9: 36,635,191 (GRCm39) |
H64L |
probably damaging |
Het |
| Chsy3 |
T |
C |
18: 59,309,367 (GRCm39) |
S207P |
probably damaging |
Het |
| Clec4n |
A |
G |
6: 123,221,433 (GRCm39) |
|
probably benign |
Het |
| Col9a1 |
G |
A |
1: 24,218,689 (GRCm39) |
|
probably null |
Het |
| Dgkd |
A |
G |
1: 87,808,150 (GRCm39) |
R73G |
probably damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,682,915 (GRCm39) |
T562S |
probably benign |
Het |
| Epb42 |
T |
C |
2: 120,856,324 (GRCm39) |
T407A |
probably benign |
Het |
| Eps8l3 |
A |
G |
3: 107,788,487 (GRCm39) |
D58G |
probably damaging |
Het |
| Fuca1 |
A |
T |
4: 135,652,862 (GRCm39) |
N162I |
possibly damaging |
Het |
| Gramd1a |
T |
C |
7: 30,839,221 (GRCm39) |
D229G |
probably damaging |
Het |
| Grin1 |
A |
G |
2: 25,208,709 (GRCm39) |
S64P |
probably damaging |
Het |
| Hgd |
T |
G |
16: 37,442,287 (GRCm39) |
V243G |
probably damaging |
Het |
| Il23r |
A |
T |
6: 67,400,412 (GRCm39) |
N639K |
probably benign |
Het |
| Il33 |
A |
G |
19: 29,929,390 (GRCm39) |
T38A |
possibly damaging |
Het |
| Mycbpap |
T |
C |
11: 94,405,430 (GRCm39) |
E33G |
probably damaging |
Het |
| Npas1 |
C |
T |
7: 16,199,111 (GRCm39) |
G148D |
probably damaging |
Het |
| Ntan1 |
C |
T |
16: 13,652,603 (GRCm39) |
T233M |
probably benign |
Het |
| Or6c5 |
A |
T |
10: 129,074,138 (GRCm39) |
N40I |
probably damaging |
Het |
| Plscr1l1 |
A |
T |
9: 92,229,864 (GRCm39) |
I23F |
probably damaging |
Het |
| Pou2f1 |
A |
T |
1: 165,708,002 (GRCm39) |
|
probably benign |
Het |
| Rims4 |
T |
C |
2: 163,706,022 (GRCm39) |
Y204C |
probably damaging |
Het |
| Selp |
A |
G |
1: 163,971,461 (GRCm39) |
|
probably null |
Het |
| Senp7 |
A |
G |
16: 55,992,219 (GRCm39) |
E725G |
probably damaging |
Het |
| Snx31 |
A |
T |
15: 36,517,818 (GRCm39) |
F366Y |
probably damaging |
Het |
| Spats2l |
A |
G |
1: 57,941,241 (GRCm39) |
|
probably benign |
Het |
| Tssk4 |
T |
C |
14: 55,888,010 (GRCm39) |
F69L |
probably damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,335,806 (GRCm39) |
L9P |
probably damaging |
Het |
| Vmn2r76 |
A |
T |
7: 85,874,871 (GRCm39) |
I702N |
probably damaging |
Het |
| Vps18 |
C |
A |
2: 119,127,672 (GRCm39) |
R832S |
probably benign |
Het |
| Xpo6 |
A |
G |
7: 125,748,506 (GRCm39) |
L375P |
probably damaging |
Het |
| Zfp462 |
C |
A |
4: 55,008,912 (GRCm39) |
P293T |
possibly damaging |
Het |
| Zyg11b |
T |
C |
4: 108,107,985 (GRCm39) |
I474V |
probably benign |
Het |
|
| Other mutations in Casp9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02357:Casp9
|
APN |
4 |
141,532,783 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02426:Casp9
|
APN |
4 |
141,539,515 (GRCm39) |
splice site |
probably null |
|
|
IGL03027:Casp9
|
APN |
4 |
141,539,584 (GRCm39) |
missense |
probably benign |
0.05 |
|
PIT4151001:Casp9
|
UTSW |
4 |
141,521,259 (GRCm39) |
nonsense |
probably null |
|
|
R0352:Casp9
|
UTSW |
4 |
141,532,841 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0359:Casp9
|
UTSW |
4 |
141,521,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0374:Casp9
|
UTSW |
4 |
141,534,484 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1465:Casp9
|
UTSW |
4 |
141,533,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1465:Casp9
|
UTSW |
4 |
141,533,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4660:Casp9
|
UTSW |
4 |
141,540,934 (GRCm39) |
missense |
probably benign |
|
|
R6020:Casp9
|
UTSW |
4 |
141,523,849 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6137:Casp9
|
UTSW |
4 |
141,532,660 (GRCm39) |
splice site |
probably null |
|
|
R6238:Casp9
|
UTSW |
4 |
141,534,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6289:Casp9
|
UTSW |
4 |
141,534,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7707:Casp9
|
UTSW |
4 |
141,532,778 (GRCm39) |
missense |
probably benign |
|
|
R8426:Casp9
|
UTSW |
4 |
141,540,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8438:Casp9
|
UTSW |
4 |
141,540,934 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9287:Casp9
|
UTSW |
4 |
141,534,471 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0023:Casp9
|
UTSW |
4 |
141,540,914 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
Z1088:Casp9
|
UTSW |
4 |
141,532,772 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation