Incidental Mutation 'R8426:Casp9'
| ID |
653468 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casp9
|
| Ensembl Gene |
ENSMUSG00000028914 |
| Gene Name |
caspase 9 |
| Synonyms |
Caspase-9, Mch6, ICE-LAP6 |
| MMRRC Submission |
067820-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8426 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
141520923-141543287 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 141540936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 435
(Y435H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030747]
[ENSMUST00000097805]
[ENSMUST00000102481]
|
| AlphaFold |
Q8C3Q9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030747
AA Change: Y435H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030747
Gene: ENSMUSG00000028914
AA Change: Y435H
| 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
AA Change: L398S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095414
Gene: ENSMUSG00000028914
AA Change: L398S
| 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: ENSMUST00000102481
|
| SMART Domains |
Protein: ENSMUSP00000099539
Gene: ENSMUSG00000058579
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
30 |
264 |
2.75e-95 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176781
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,155,606 (GRCm39) |
H32R |
probably benign |
Het |
| Abcb1b |
T |
C |
5: 8,911,632 (GRCm39) |
|
probably null |
Het |
| Aicda |
A |
T |
6: 122,538,150 (GRCm39) |
N103Y |
probably damaging |
Het |
| Bsn |
T |
C |
9: 108,003,772 (GRCm39) |
E211G |
probably damaging |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
| Ceacam5 |
T |
C |
7: 17,493,266 (GRCm39) |
V763A |
possibly damaging |
Het |
| Cxcr6 |
A |
G |
9: 123,639,071 (GRCm39) |
N31S |
probably benign |
Het |
| Elapor1 |
G |
A |
3: 108,378,742 (GRCm39) |
A352V |
probably damaging |
Het |
| Gm17728 |
A |
G |
17: 9,641,231 (GRCm39) |
T114A |
probably benign |
Het |
| Gnao1 |
A |
T |
8: 94,622,857 (GRCm39) |
|
probably null |
Het |
| Iffo2 |
A |
T |
4: 139,342,291 (GRCm39) |
Y451F |
probably damaging |
Het |
| Ints4 |
G |
A |
7: 97,150,239 (GRCm39) |
W258* |
probably null |
Het |
| Ipo11 |
T |
C |
13: 106,978,678 (GRCm39) |
D834G |
possibly damaging |
Het |
| Kif5a |
T |
C |
10: 127,067,358 (GRCm39) |
D853G |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,979,487 (GRCm39) |
E1655G |
probably damaging |
Het |
| Lepr |
G |
A |
4: 101,671,841 (GRCm39) |
S955N |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,388,318 (GRCm39) |
I550V |
|
Het |
| Mov10l1 |
T |
A |
15: 88,881,608 (GRCm39) |
|
probably null |
Het |
| Mroh9 |
A |
T |
1: 162,852,294 (GRCm39) |
D798E |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,799,576 (GRCm39) |
I1380V |
probably damaging |
Het |
| Neu2 |
C |
T |
1: 87,524,387 (GRCm39) |
S124L |
probably damaging |
Het |
| Nol6 |
T |
C |
4: 41,119,870 (GRCm39) |
I543V |
probably benign |
Het |
| Nrxn3 |
G |
A |
12: 88,762,097 (GRCm39) |
R48H |
possibly damaging |
Het |
| Ogn |
C |
T |
13: 49,774,567 (GRCm39) |
R237C |
possibly damaging |
Het |
| Or10aa3 |
T |
C |
1: 173,878,146 (GRCm39) |
L69P |
probably damaging |
Het |
| Or8b46 |
A |
T |
9: 38,450,620 (GRCm39) |
Y143F |
probably damaging |
Het |
| Phf24 |
C |
T |
4: 42,933,785 (GRCm39) |
Q19* |
probably null |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Ptch2 |
G |
T |
4: 116,965,369 (GRCm39) |
S318I |
possibly damaging |
Het |
| Sart1 |
A |
G |
19: 5,433,769 (GRCm39) |
M356T |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,382,105 (GRCm39) |
N529D |
probably benign |
Het |
| Smchd1 |
A |
C |
17: 71,755,598 (GRCm39) |
D261E |
probably damaging |
Het |
| Tcerg1 |
G |
A |
18: 42,681,466 (GRCm39) |
V538I |
possibly damaging |
Het |
| Thada |
A |
T |
17: 84,530,131 (GRCm39) |
M1746K |
probably benign |
Het |
| Thsd1 |
A |
G |
8: 22,733,654 (GRCm39) |
I234V |
probably benign |
Het |
| Tm9sf4 |
G |
A |
2: 153,045,736 (GRCm39) |
G536D |
probably damaging |
Het |
| Tmprss11c |
G |
T |
5: 86,379,677 (GRCm39) |
N410K |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Unc5d |
G |
T |
8: 29,210,016 (GRCm39) |
S440Y |
probably damaging |
Het |
| Vmn1r44 |
A |
G |
6: 89,870,470 (GRCm39) |
D72G |
probably benign |
Het |
| Vmn1r68 |
T |
C |
7: 10,261,382 (GRCm39) |
N239D |
probably benign |
Het |
| Vmn2r107 |
T |
A |
17: 20,577,239 (GRCm39) |
H412Q |
possibly damaging |
Het |
|
| Other mutations in Casp9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01627:Casp9
|
APN |
4 |
141,532,853 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTTTATTCTGTAATCCACCTCAG -3'
(R):5'- AACCTGAAAGCTGCTAGGAGC -3'
Sequencing Primer
(F):5'- ATCCACCTCAGGATGTTGTAGG -3'
(R):5'- CATGTTTGCATCGCCAAAGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation