Incidental Mutation 'R1505:Casp8'
ID 169095
Institutional Source Beutler Lab
Gene Symbol Casp8
Ensembl Gene ENSMUSG00000026029
Gene Name caspase 8
Synonyms MACH, Caspase-8, Mch5, FLICE
MMRRC Submission 040868-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1505 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 58834533-58886662 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58868081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 174 (E174G)
Ref Sequence ENSEMBL: ENSMUSP00000140546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027189] [ENSMUST00000165549] [ENSMUST00000190213] [ENSMUST00000191201]
AlphaFold O89110
Predicted Effect probably damaging
Transcript: ENSMUST00000027189
AA Change: E154G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027189
Gene: ENSMUSG00000026029
AA Change: E154G

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 damaging
Transcript: ENSMUST00000165549
AA Change: E154G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127375
Gene: ENSMUSG00000026029
AA Change: E154G

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 damaging
Transcript: ENSMUST00000190213
AA Change: E174G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140335
Gene: ENSMUSG00000026029
AA Change: E174G

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 damaging
Transcript: ENSMUST00000191201
AA Change: E174G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140546
Gene: ENSMUSG00000026029
AA Change: E174G

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
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.5%
  • 20x: 86.3%
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, 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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T A 5: 105,099,431 (GRCm39) R444W probably damaging Het
Adnp A G 2: 168,025,661 (GRCm39) S545P possibly damaging Het
Ankrd17 T C 5: 90,447,885 (GRCm39) R219G possibly damaging Het
Ap2m1 C G 16: 20,361,447 (GRCm39) P372A probably benign Het
Calml3 T A 13: 3,854,071 (GRCm39) T45S probably benign Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Cfap221 A C 1: 119,881,358 (GRCm39) L368R probably benign Het
Chd9 A G 8: 91,733,123 (GRCm39) probably null Het
Cnot1 A T 8: 96,455,295 (GRCm39) I2035N probably damaging Het
Cyp2c67 T C 19: 39,637,408 (GRCm39) R23G probably benign Het
Dnah10 A C 5: 124,831,303 (GRCm39) H777P possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam162b G A 10: 51,463,298 (GRCm39) A123V probably damaging Het
Golgb1 T A 16: 36,740,005 (GRCm39) N2781K possibly damaging Het
Hs2st1 C A 3: 144,140,322 (GRCm39) R333L probably benign Het
Kmt2e A G 5: 23,705,533 (GRCm39) H1319R probably null Het
Necab1 A T 4: 14,960,047 (GRCm39) M300K probably benign Het
Ntrk3 T A 7: 78,110,272 (GRCm39) I321F probably damaging Het
Or5p60 A G 7: 107,724,200 (GRCm39) V90A probably benign Het
Or7e169 A T 9: 19,757,084 (GRCm39) M277K probably benign Het
Or8g52 A G 9: 39,630,774 (GRCm39) N84D probably damaging Het
Or8k41 A T 2: 86,313,557 (GRCm39) H176Q possibly damaging Het
Osbpl6 T C 2: 76,409,586 (GRCm39) S483P probably damaging Het
Pcdhb17 A C 18: 37,619,875 (GRCm39) N555T probably damaging Het
Pdgfc G A 3: 81,116,543 (GRCm39) R299H possibly damaging Het
Ptpn7 A T 1: 135,062,302 (GRCm39) T83S probably benign Het
Rapgef5 T C 12: 117,652,354 (GRCm39) V79A possibly damaging Het
Rexo5 T A 7: 119,398,826 (GRCm39) C54* probably null Het
Riok3 A G 18: 12,285,935 (GRCm39) K418R probably benign Het
Robo4 G A 9: 37,314,523 (GRCm39) G170D probably damaging Het
Rpl8 A G 15: 76,788,610 (GRCm39) D33G possibly damaging Het
Rspo2 T C 15: 42,939,239 (GRCm39) T184A probably damaging Het
Ryr2 A T 13: 11,569,478 (GRCm39) M4942K possibly damaging Het
Sel1l T C 12: 91,780,736 (GRCm39) Y585C probably damaging Het
Slc25a11 G T 11: 70,537,650 (GRCm39) D13E probably benign Het
Slc5a6 G T 5: 31,194,455 (GRCm39) H584N probably benign Het
Snrpf A G 10: 93,419,381 (GRCm39) V69A possibly damaging Het
Sorbs3 T A 14: 70,428,251 (GRCm39) K475* probably null Het
Speg G A 1: 75,352,186 (GRCm39) V35I probably benign Het
Tlk2 T G 11: 105,151,121 (GRCm39) V468G probably damaging Het
Trim6 T A 7: 103,881,771 (GRCm39) W341R probably damaging Het
Ttll5 T A 12: 85,926,184 (GRCm39) I326N probably damaging Het
Vipas39 T C 12: 87,292,934 (GRCm39) Y318C probably damaging Het
Vmn1r185 T A 7: 26,310,903 (GRCm39) I201F probably damaging Het
Vwce A G 19: 10,641,608 (GRCm39) H778R probably benign Het
Zbtb14 C G 17: 69,694,759 (GRCm39) I152M probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- CTGGTCCATAGCTGAAGGCATTCTC -3'
(R):5'- AAACTGAAGGTGGCAACTCTTCCC -3'

Sequencing Primer
(F):5'- AGCTGAAGGCATTCTCATACTGG -3'
(R):5'- AAGGCTCATTCTTCTCTCTGAATTG -3'
Posted On 2014-04-13