Incidental Mutation 'IGL00825:Casp8'
ID 12509
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Casp8
Ensembl Gene ENSMUSG00000026029
Gene Name caspase 8
Synonyms MACH, Caspase-8, Mch5, FLICE
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00825
Quality Score
Status
Chromosome 1
Chromosomal Location 58834533-58886662 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 58868165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 202 (S202N)
Ref Sequence ENSEMBL: ENSMUSP00000140546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027189] [ENSMUST00000165549] [ENSMUST00000190213] [ENSMUST00000191201]
AlphaFold O89110
Predicted Effect probably benign
Transcript: ENSMUST00000027189
AA Change: S182N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000027189
Gene: ENSMUSG00000026029
AA Change: S182N

DomainStartEndE-ValueType
DED 1 80 3.21e-23 SMART
DED 99 178 1.01e-15 SMART
CASc 227 480 2.13e-110 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165549
AA Change: S182N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000127375
Gene: ENSMUSG00000026029
AA Change: S182N

DomainStartEndE-ValueType
DED 1 80 3.21e-23 SMART
DED 99 178 1.01e-15 SMART
CASc 227 480 2.13e-110 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190213
AA Change: S202N

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000140335
Gene: ENSMUSG00000026029
AA Change: S202N

DomainStartEndE-ValueType
DED 21 100 1.5e-25 SMART
DED 119 198 5e-18 SMART
CASc 247 500 1.1e-112 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191201
AA Change: S202N

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000140546
Gene: ENSMUSG00000026029
AA Change: S202N

DomainStartEndE-ValueType
DED 21 100 1.5e-25 SMART
DED 119 198 5e-18 SMART
CASc 247 500 1.1e-112 SMART
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, an initiator of apoptotic cell death, is activated by death-inducing tumor necrosis family receptors and targets downstream effectors. In mouse deficiency of this gene can cause embryonic lethality. This protein may have a role in embryogenesis. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired cardiac muscle development, cardiac erythrocyte congestion, low numbers of colony-forming cells, and prenatal lethality. T-cell restricted knockout mice are viable, but immunodeficient. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd3 C T 18: 10,704,657 (GRCm39) V129M probably benign Het
Cimap1c A G 9: 56,758,975 (GRCm39) I60T probably benign Het
Clec2g C A 6: 128,957,144 (GRCm39) probably null Het
Dnah7b T C 1: 46,263,811 (GRCm39) Y2098H probably damaging Het
Dzip3 T C 16: 48,748,778 (GRCm39) K1053E probably damaging Het
Ern1 T C 11: 106,312,793 (GRCm39) K196R probably benign Het
Jcad A T 18: 4,673,516 (GRCm39) Y426F probably damaging Het
Kansl1l T C 1: 66,840,671 (GRCm39) T210A probably benign Het
Map2k2 G A 10: 80,954,052 (GRCm39) V173I probably benign Het
P3h2 A G 16: 25,811,548 (GRCm39) I225T probably damaging Het
Pld2 G A 11: 70,442,006 (GRCm39) W337* probably null Het
Ppp2r2b C T 18: 42,778,840 (GRCm39) V429M probably damaging Het
Pprc1 G T 19: 46,059,845 (GRCm39) probably benign Het
Ptpn4 A G 1: 119,587,655 (GRCm39) probably benign Het
Rap1gds1 T A 3: 138,689,588 (GRCm39) I135F possibly damaging Het
Rasa2 A T 9: 96,452,772 (GRCm39) N371K probably benign Het
Rbbp8 A G 18: 11,855,664 (GRCm39) T604A probably benign Het
Safb2 A G 17: 56,878,208 (GRCm39) probably null Het
Sec23ip C A 7: 128,369,333 (GRCm39) L686I probably damaging Het
Slc22a6 T C 19: 8,595,721 (GRCm39) V21A possibly damaging Het
Slco1c1 A T 6: 141,487,868 (GRCm39) N79Y probably damaging Het
Tbl1xr1 G T 3: 22,243,950 (GRCm39) probably null Het
Zfp961 T A 8: 72,721,888 (GRCm39) C134S possibly damaging Het
Other mutations in Casp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00684:Casp8 APN 1 58,866,473 (GRCm39) critical splice donor site probably null
IGL02025:Casp8 APN 1 58,863,306 (GRCm39) missense possibly damaging 0.81
IGL02549:Casp8 APN 1 58,872,925 (GRCm39) missense probably benign
amontillado UTSW 1 58,883,929 (GRCm39) missense probably damaging 1.00
Porto UTSW 1 58,872,857 (GRCm39) missense possibly damaging 0.89
IGL02991:Casp8 UTSW 1 58,866,438 (GRCm39) missense probably benign 0.00
R0609:Casp8 UTSW 1 58,883,951 (GRCm39) missense probably benign 0.00
R0960:Casp8 UTSW 1 58,868,172 (GRCm39) critical splice donor site probably null
R1433:Casp8 UTSW 1 58,863,283 (GRCm39) missense probably damaging 1.00
R1505:Casp8 UTSW 1 58,868,081 (GRCm39) missense probably damaging 0.99
R1506:Casp8 UTSW 1 58,863,355 (GRCm39) missense probably damaging 0.97
R1596:Casp8 UTSW 1 58,870,833 (GRCm39) splice site probably benign
R1674:Casp8 UTSW 1 58,883,575 (GRCm39) missense probably damaging 1.00
R1676:Casp8 UTSW 1 58,883,575 (GRCm39) missense probably damaging 1.00
R1981:Casp8 UTSW 1 58,868,121 (GRCm39) splice site probably null
R3909:Casp8 UTSW 1 58,883,970 (GRCm39) missense probably damaging 1.00
R3911:Casp8 UTSW 1 58,872,864 (GRCm39) missense probably damaging 1.00
R4231:Casp8 UTSW 1 58,883,929 (GRCm39) missense probably damaging 1.00
R4233:Casp8 UTSW 1 58,883,929 (GRCm39) missense probably damaging 1.00
R4234:Casp8 UTSW 1 58,883,929 (GRCm39) missense probably damaging 1.00
R4235:Casp8 UTSW 1 58,872,857 (GRCm39) missense possibly damaging 0.89
R4236:Casp8 UTSW 1 58,883,929 (GRCm39) missense probably damaging 1.00
R4917:Casp8 UTSW 1 58,866,377 (GRCm39) missense probably damaging 1.00
R4918:Casp8 UTSW 1 58,866,377 (GRCm39) missense probably damaging 1.00
R5063:Casp8 UTSW 1 58,883,533 (GRCm39) missense probably damaging 1.00
R5092:Casp8 UTSW 1 58,883,835 (GRCm39) missense possibly damaging 0.53
R5153:Casp8 UTSW 1 58,884,004 (GRCm39) missense probably benign 0.00
R5964:Casp8 UTSW 1 58,872,895 (GRCm39) missense possibly damaging 0.62
R5979:Casp8 UTSW 1 58,868,071 (GRCm39) missense probably benign
R7602:Casp8 UTSW 1 58,872,898 (GRCm39) missense probably benign 0.43
R7675:Casp8 UTSW 1 58,863,106 (GRCm39) missense possibly damaging 0.69
R8272:Casp8 UTSW 1 58,872,901 (GRCm39) missense probably damaging 0.96
R8714:Casp8 UTSW 1 58,872,812 (GRCm39) missense possibly damaging 0.57
R8747:Casp8 UTSW 1 58,883,617 (GRCm39) missense probably benign 0.00
R9279:Casp8 UTSW 1 58,883,542 (GRCm39) missense probably benign 0.20
Posted On 2012-12-06