Incidental Mutation 'R6289:Casp9'
ID |
508295 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Casp9
|
Ensembl Gene |
ENSMUSG00000028914 |
Gene Name |
caspase 9 |
Synonyms |
Caspase-9, Mch6, ICE-LAP6 |
MMRRC Submission |
044459-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6289 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
141520923-141543287 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 141534496 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 302
(V302E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030747
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030747]
[ENSMUST00000097805]
[ENSMUST00000153094]
|
AlphaFold |
Q8C3Q9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030747
AA Change: V302E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030747 Gene: ENSMUSG00000028914 AA Change: V302E
Domain | Start | End | E-Value | Type |
CARD
|
1 |
91 |
2.99e-32 |
SMART |
CASc
|
190 |
453 |
4.64e-111 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097805
AA Change: V302E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000095414 Gene: ENSMUSG00000028914 AA Change: V302E
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (41/41) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam21 |
A |
G |
12: 81,607,480 (GRCm39) |
V94A |
probably damaging |
Het |
Ankrd36 |
T |
C |
11: 5,578,837 (GRCm39) |
S34P |
probably damaging |
Het |
Arid3c |
G |
A |
4: 41,724,285 (GRCm39) |
|
probably benign |
Het |
Atg16l1 |
C |
T |
1: 87,683,937 (GRCm39) |
R6C |
probably damaging |
Het |
Bex6 |
A |
G |
16: 32,005,530 (GRCm39) |
I113V |
probably benign |
Het |
Blk |
T |
C |
14: 63,613,341 (GRCm39) |
|
probably null |
Het |
C1s1 |
A |
G |
6: 124,508,135 (GRCm39) |
F618S |
probably damaging |
Het |
Casp8ap2 |
C |
T |
4: 32,639,590 (GRCm39) |
H215Y |
probably damaging |
Het |
Ccl2 |
A |
C |
11: 81,927,795 (GRCm39) |
K80Q |
probably benign |
Het |
Cit |
T |
G |
5: 116,144,385 (GRCm39) |
*2014E |
probably null |
Het |
Dclk2 |
A |
T |
3: 86,739,124 (GRCm39) |
S292T |
probably benign |
Het |
Ddx23 |
T |
C |
15: 98,547,765 (GRCm39) |
E463G |
probably benign |
Het |
Dennd1b |
T |
C |
1: 139,096,683 (GRCm39) |
|
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fgf10 |
C |
A |
13: 118,852,028 (GRCm39) |
Q37K |
probably benign |
Het |
Fgf22 |
A |
G |
10: 79,591,041 (GRCm39) |
D24G |
probably damaging |
Het |
Gabra1 |
A |
G |
11: 42,045,846 (GRCm39) |
I88T |
probably damaging |
Het |
Grip2 |
A |
G |
6: 91,755,852 (GRCm39) |
I586T |
probably benign |
Het |
H1f5 |
G |
T |
13: 21,964,609 (GRCm39) |
P39Q |
probably damaging |
Het |
Hpse2 |
T |
A |
19: 42,777,418 (GRCm39) |
N583Y |
probably null |
Het |
Katnal2 |
A |
G |
18: 77,105,151 (GRCm39) |
|
probably null |
Het |
Keg1 |
T |
G |
19: 12,691,937 (GRCm39) |
C85G |
probably damaging |
Het |
Kidins220 |
T |
A |
12: 25,106,615 (GRCm39) |
L1356H |
probably damaging |
Het |
Lifr |
A |
G |
15: 7,196,391 (GRCm39) |
K192E |
probably benign |
Het |
Mks1 |
T |
C |
11: 87,750,485 (GRCm39) |
|
probably null |
Het |
Or5b110-ps1 |
T |
C |
19: 13,260,158 (GRCm39) |
K88R |
possibly damaging |
Het |
Rars1 |
C |
T |
11: 35,716,894 (GRCm39) |
M207I |
probably damaging |
Het |
Rbm6 |
T |
C |
9: 107,655,147 (GRCm39) |
Y896C |
probably damaging |
Het |
Scarf1 |
T |
A |
11: 75,416,242 (GRCm39) |
W472R |
possibly damaging |
Het |
Septin8 |
A |
G |
11: 53,425,305 (GRCm39) |
N66S |
probably damaging |
Het |
Smcr8 |
T |
C |
11: 60,669,424 (GRCm39) |
F191L |
probably damaging |
Het |
Tdrd6 |
A |
G |
17: 43,935,411 (GRCm39) |
M1879T |
probably benign |
Het |
Tlr3 |
C |
T |
8: 45,849,966 (GRCm39) |
R901Q |
probably benign |
Het |
Trpc4ap |
T |
C |
2: 155,505,627 (GRCm39) |
T203A |
possibly damaging |
Het |
Tubgcp5 |
A |
G |
7: 55,445,671 (GRCm39) |
S58G |
probably benign |
Het |
Ubtd2 |
A |
G |
11: 32,466,177 (GRCm39) |
E132G |
probably damaging |
Het |
Uggt2 |
T |
A |
14: 119,279,014 (GRCm39) |
E831V |
probably damaging |
Het |
Umodl1 |
A |
G |
17: 31,201,325 (GRCm39) |
N418S |
probably benign |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Wdhd1 |
A |
C |
14: 47,495,953 (GRCm39) |
I637S |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTGGAATAGGTGCTGACCCG -3'
(R):5'- TGTGTAGAGAAGCCCACTGACC -3'
Sequencing Primer
(F):5'- AATAGGTGCTGACCCGTCTAC -3'
(R):5'- CCAGTGAGGGGCTAACGTG -3'
|
Posted On |
2018-03-15 |