Incidental Mutation 'IGL02549:Casp8'
ID 297985
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 # IGL02549
Quality Score
Status
Chromosome 1
Chromosomal Location 58834533-58886662 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 58872925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 287 (C287Y)
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: C267Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027189
Gene: ENSMUSG00000026029
AA Change: C267Y

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: C267Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127375
Gene: ENSMUSG00000026029
AA Change: C267Y

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: C287Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140335
Gene: ENSMUSG00000026029
AA Change: C287Y

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: C287Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140546
Gene: ENSMUSG00000026029
AA Change: C287Y

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 109,992,879 (GRCm39) E1595G probably damaging Het
Adnp2 G A 18: 80,172,333 (GRCm39) A692V probably damaging Het
Ankk1 A G 9: 49,329,993 (GRCm39) S321P probably damaging Het
Ankrd11 T C 8: 123,618,032 (GRCm39) Y1919C probably damaging Het
Atp10a A G 7: 58,469,481 (GRCm39) T1111A probably benign Het
Avpr1a A T 10: 122,288,069 (GRCm39) H359L possibly damaging Het
C1rl A T 6: 124,470,796 (GRCm39) I35F possibly damaging Het
Ccdc88c A T 12: 100,895,191 (GRCm39) S1437T probably benign Het
Cd200r1 C T 16: 44,610,341 (GRCm39) P150S probably damaging Het
Col2a1 G A 15: 97,875,680 (GRCm39) R1202C unknown Het
Copb1 A T 7: 113,846,032 (GRCm39) D179E probably benign Het
Cyp2c29 C T 19: 39,298,229 (GRCm39) T258I possibly damaging Het
Flacc1 T C 1: 58,698,441 (GRCm39) T326A probably benign Het
Gemin5 T C 11: 58,025,629 (GRCm39) Y991C probably damaging Het
Gm4978 T C 9: 69,357,641 (GRCm39) probably benign Het
Gm7732 A T 17: 21,349,649 (GRCm39) noncoding transcript Het
Gucy2f T C X: 140,943,200 (GRCm39) I478V probably benign Het
Herc1 A G 9: 66,307,183 (GRCm39) H1001R probably damaging Het
Igsf10 A G 3: 59,236,662 (GRCm39) V1173A probably benign Het
Kansl1l T C 1: 66,841,127 (GRCm39) T58A probably benign Het
Kcnk13 A T 12: 100,028,010 (GRCm39) K362* probably null Het
Lama1 T G 17: 68,097,830 (GRCm39) L1737V possibly damaging Het
Lama4 A G 10: 38,936,200 (GRCm39) N625S probably benign Het
Loxl1 A T 9: 58,200,921 (GRCm39) C514S probably damaging Het
Muc13 A C 16: 33,628,339 (GRCm39) E363A probably damaging Het
Noxo1 G T 17: 24,919,145 (GRCm39) G289V probably damaging Het
Nudt7 G T 8: 114,878,688 (GRCm39) D239Y probably damaging Het
Polr3e G T 7: 120,538,982 (GRCm39) V407F probably damaging Het
Pou5f2 T A 13: 78,173,709 (GRCm39) L217Q probably damaging Het
R3hdm2 A G 10: 127,320,094 (GRCm39) probably benign Het
Rab11fip3 A C 17: 26,213,294 (GRCm39) N793K probably damaging Het
Ranbp3l A G 15: 8,997,925 (GRCm39) R6G possibly damaging Het
Slco1a6 T A 6: 142,042,141 (GRCm39) probably benign Het
Sspo A G 6: 48,428,707 (GRCm39) E374G possibly damaging Het
Tg T C 15: 66,711,210 (GRCm39) Y991H probably damaging Het
Tnc A G 4: 63,933,309 (GRCm39) Y652H probably damaging Het
Trpc4 G A 3: 54,129,770 (GRCm39) V179I possibly damaging Het
Xirp2 A G 2: 67,343,446 (GRCm39) T1896A probably benign Het
Zfhx3 T C 8: 109,527,141 (GRCm39) Y1013H probably damaging Het
Other mutations in Casp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00684:Casp8 APN 1 58,866,473 (GRCm39) critical splice donor site probably null
IGL00825:Casp8 APN 1 58,868,165 (GRCm39) missense probably benign 0.02
IGL02025:Casp8 APN 1 58,863,306 (GRCm39) missense possibly damaging 0.81
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 2015-04-16