Incidental Mutation 'IGL02357:Casp9'
ID290593
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Casp9
Ensembl Gene ENSMUSG00000028914
Gene Namecaspase 9
SynonymsICE-LAP6, Mch6, Caspase-9
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02357
Quality Score
Status
Chromosome4
Chromosomal Location141793612-141815976 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 141805472 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 226 (D226E)
Ref Sequence ENSEMBL: ENSMUSP00000095414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030747] [ENSMUST00000097805] [ENSMUST00000153094]
Predicted Effect probably benign
Transcript: ENSMUST00000030747
AA Change: D226E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030747
Gene: ENSMUSG00000028914
AA Change: D226E

DomainStartEndE-ValueType
CARD 1 91 2.99e-32 SMART
CASc 190 453 4.64e-111 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097805
AA Change: D226E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000095414
Gene: ENSMUSG00000028914
AA Change: D226E

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110035E14Rik T C 1: 9,613,319 I44T possibly damaging Het
Abhd8 A G 8: 71,461,477 V169A probably benign Het
Adamts16 T A 13: 70,738,585 T1029S probably benign Het
Adgrv1 C A 13: 81,270,855 C6007F probably benign Het
Ak8 A T 2: 28,700,213 H8L probably benign Het
Apol7b A G 15: 77,423,632 V221A probably benign Het
BC005624 G A 2: 30,973,767 P235S probably benign Het
Cd96 A G 16: 46,069,776 probably benign Het
Celf1 A T 2: 90,998,588 K27I probably damaging Het
Cfap65 A T 1: 74,928,348 C190* probably null Het
Cib2 A T 9: 54,549,886 H31Q probably damaging Het
Cyp3a59 T C 5: 146,079,342 L3P probably damaging Het
Dnajc13 T C 9: 104,162,359 M2104V possibly damaging Het
Emb A G 13: 117,249,471 probably benign Het
Fbn2 G T 18: 58,103,995 N645K possibly damaging Het
Fes T C 7: 80,383,830 probably null Het
Flnc A T 6: 29,438,493 K129* probably null Het
Gckr C A 5: 31,307,790 H368N possibly damaging Het
Gm5145 A T 17: 20,570,440 I27F probably damaging Het
Hecw1 A G 13: 14,248,338 probably null Het
Hook2 C T 8: 84,994,985 Q291* probably null Het
Jakmip2 T C 18: 43,547,127 T722A possibly damaging Het
Kcnt2 A G 1: 140,351,269 I53V probably benign Het
Lipo2 A G 19: 33,730,948 L222P possibly damaging Het
Mrc2 A G 11: 105,325,721 D112G probably damaging Het
Mroh2b A G 15: 4,912,000 N338S probably benign Het
Mrpl23 T A 7: 142,536,065 probably benign Het
Myo18a A G 11: 77,850,247 N1442S probably benign Het
Ngdn T A 14: 55,021,936 V179E probably damaging Het
Nxn A G 11: 76,274,654 probably benign Het
Olfr1349 T A 7: 6,515,226 M68L probably damaging Het
Olfr1535 A G 13: 21,555,602 L140P probably damaging Het
Osmr A T 15: 6,828,663 N441K probably benign Het
Plcb3 A C 19: 6,958,178 L789R probably damaging Het
Plek C T 11: 16,981,846 R335H probably damaging Het
Pmp22 G T 11: 63,158,308 V126F probably benign Het
Prom1 A G 5: 44,029,604 probably benign Het
Prss1 C A 6: 41,463,205 Q159K probably damaging Het
Psd3 G T 8: 67,963,869 H459N probably benign Het
Rusc2 T G 4: 43,425,351 V1152G possibly damaging Het
Slc16a4 A G 3: 107,303,099 I362V probably benign Het
Slc22a22 A G 15: 57,247,448 V461A probably benign Het
Slc35e4 C T 11: 3,912,640 R183Q probably benign Het
Spen T C 4: 141,477,579 T1246A unknown Het
Syt16 T C 12: 74,266,842 V514A probably benign Het
Tdpoz2 A G 3: 93,652,428 V79A possibly damaging Het
Tpgs1 A G 10: 79,675,759 D245G probably benign Het
Ttn A G 2: 76,709,619 V34341A probably benign Het
Wwox T C 8: 114,712,142 V316A possibly damaging Het
Other mutations in Casp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01627:Casp9 APN 4 141805542 unclassified probably benign
IGL02426:Casp9 APN 4 141812204 splice site probably null
IGL03027:Casp9 APN 4 141812273 missense probably benign 0.05
PIT4151001:Casp9 UTSW 4 141793948 nonsense probably null
R0352:Casp9 UTSW 4 141805530 missense probably damaging 0.98
R0359:Casp9 UTSW 4 141793910 missense probably damaging 1.00
R0374:Casp9 UTSW 4 141807173 missense possibly damaging 0.81
R1465:Casp9 UTSW 4 141805840 missense probably benign 0.00
R1465:Casp9 UTSW 4 141805840 missense probably benign 0.00
R4660:Casp9 UTSW 4 141813623 missense probably benign
R6020:Casp9 UTSW 4 141796538 missense probably damaging 0.99
R6137:Casp9 UTSW 4 141805349 splice site probably null
R6238:Casp9 UTSW 4 141807137 missense probably damaging 1.00
R6289:Casp9 UTSW 4 141807185 missense probably damaging 1.00
R7707:Casp9 UTSW 4 141805467 missense probably benign
R8426:Casp9 UTSW 4 141813625 missense probably damaging 1.00
R8438:Casp9 UTSW 4 141813623 missense probably benign 0.31
X0023:Casp9 UTSW 4 141813603 missense possibly damaging 0.56
Z1088:Casp9 UTSW 4 141805461 missense probably benign
Posted On2015-04-16