Incidental Mutation 'R5964:Casp8'
ID 471918
Institutional Source Beutler Lab
Gene Symbol Casp8
Ensembl Gene ENSMUSG00000026029
Gene Name caspase 8
Synonyms MACH, Mch5, FLICE, Caspase-8
MMRRC Submission 044149-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5964 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 58795374-58847503 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 58833736 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 277 (R277L)
Ref Sequence ENSEMBL: ENSMUSP00000140546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027189] [ENSMUST00000165549] [ENSMUST00000190213] [ENSMUST00000191201]
AlphaFold O89110
Predicted Effect possibly damaging
Transcript: ENSMUST00000027189
AA Change: R257L

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027189
Gene: ENSMUSG00000026029
AA Change: R257L

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 possibly damaging
Transcript: ENSMUST00000165549
AA Change: R257L

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127375
Gene: ENSMUSG00000026029
AA Change: R257L

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 possibly damaging
Transcript: ENSMUST00000190213
AA Change: R277L

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140335
Gene: ENSMUSG00000026029
AA Change: R277L

DomainStartEndE-ValueType
DED 21 100 1.5e-25 SMART
DED 119 198 5e-18 SMART
CASc 247 500 1.1e-112 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000191201
AA Change: R277L

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140546
Gene: ENSMUSG00000026029
AA Change: R277L

DomainStartEndE-ValueType
DED 21 100 1.5e-25 SMART
DED 119 198 5e-18 SMART
CASc 247 500 1.1e-112 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.2%
Validation Efficiency 96% (87/91)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 G A 3: 89,343,567 (GRCm38) Q581* probably null Het
Agl A G 3: 116,793,774 (GRCm38) V44A probably damaging Het
Alpk3 T A 7: 81,092,260 (GRCm38) D608E possibly damaging Het
Aspm C A 1: 139,455,227 (GRCm38) probably benign Het
Bbs2 T C 8: 94,068,367 (GRCm38) N692S probably benign Het
Bend4 A G 5: 67,417,818 (GRCm38) I240T probably benign Het
Ccdc61 A T 7: 18,900,940 (GRCm38) I123N probably damaging Het
Ccr9 T G 9: 123,779,434 (GRCm38) I60M probably benign Het
Cd163 T A 6: 124,326,572 (GRCm38) W1066R probably benign Het
Cd226 A T 18: 89,207,183 (GRCm38) H68L probably benign Het
Cdkn3 T A 14: 46,767,217 (GRCm38) C79S probably null Het
Cnnm1 A T 19: 43,469,723 (GRCm38) E658V probably benign Het
Cog7 T C 7: 121,956,029 (GRCm38) R304G probably damaging Het
Cpt1a T A 19: 3,365,760 (GRCm38) V286E possibly damaging Het
Creg2 C A 1: 39,624,954 (GRCm38) R212L probably benign Het
Cyp26a1 T G 19: 37,699,962 (GRCm38) S311A probably damaging Het
Cyp2b10 T C 7: 25,926,223 (GRCm38) Y484H probably benign Het
Cyp3a44 T A 5: 145,788,467 (GRCm38) Y308F possibly damaging Het
Dlg5 A G 14: 24,164,089 (GRCm38) V744A probably benign Het
Dlgap2 T A 8: 14,727,128 (GRCm38) Y124* probably null Het
Dnah3 T C 7: 119,922,880 (GRCm38) D4030G probably benign Het
Dnah5 A G 15: 28,458,584 (GRCm38) T4456A possibly damaging Het
Dtx2 T A 5: 136,023,699 (GRCm38) V347D probably benign Het
Gigyf2 C T 1: 87,407,167 (GRCm38) T294M probably damaging Het
Gli3 C G 13: 15,726,162 (GRCm38) S1378* probably null Het
Gm884 A G 11: 103,542,120 (GRCm38) S1232P possibly damaging Het
Gnao1 G A 8: 93,966,999 (GRCm38) D337N probably benign Het
Gp2 T A 7: 119,449,129 (GRCm38) Q422L probably benign Het
Ifit1 T A 19: 34,648,469 (GRCm38) M335K possibly damaging Het
Ism1 T C 2: 139,678,757 (GRCm38) S30P probably benign Het
Itgax A G 7: 128,140,447 (GRCm38) D677G probably damaging Het
Kansl1l G A 1: 66,725,922 (GRCm38) A442V probably damaging Het
Kif13a T C 13: 46,771,524 (GRCm38) I311M probably damaging Het
Lsm14b T A 2: 180,031,425 (GRCm38) S84R probably benign Het
Lzts3 A G 2: 130,636,288 (GRCm38) Y297H probably damaging Het
Map4k3 A G 17: 80,644,762 (GRCm38) I205T probably damaging Het
Matn2 A T 15: 34,410,165 (GRCm38) N501I probably damaging Het
Mctp2 T C 7: 72,103,177 (GRCm38) E776G probably damaging Het
Mex3d A T 10: 80,382,587 (GRCm38) N265K probably damaging Het
Myo5a A G 9: 75,203,833 (GRCm38) T1534A probably benign Het
Ncoa7 T C 10: 30,704,636 (GRCm38) M35V probably damaging Het
Nek4 G A 14: 30,957,079 (GRCm38) probably null Het
Ngrn T C 7: 80,261,933 (GRCm38) probably null Het
Nlrp1a T A 11: 71,123,020 (GRCm38) Q468L probably benign Het
Olfr1450 A C 19: 12,954,531 (GRCm38) Q314P probably benign Het
Olfr743 T A 14: 50,534,198 (GRCm38) M262K probably damaging Het
Phtf2 T C 5: 20,775,934 (GRCm38) D433G probably damaging Het
Prdm13 G A 4: 21,683,852 (GRCm38) Q140* probably null Het
Prtg G A 9: 72,892,254 (GRCm38) G778E probably benign Het
Pum3 T C 19: 27,420,051 (GRCm38) E308G probably damaging Het
Pwp1 T G 10: 85,882,886 (GRCm38) F306V probably damaging Het
Rab24 A T 13: 55,321,576 (GRCm38) Y27N probably damaging Het
Rnf215 T C 11: 4,135,898 (GRCm38) F126L probably benign Het
Samd13 A T 3: 146,680,696 (GRCm38) probably benign Het
Serac1 T A 17: 6,065,049 (GRCm38) H213L probably benign Het
Slc45a3 A G 1: 131,978,073 (GRCm38) E278G probably damaging Het
Slit3 C T 11: 35,700,236 (GRCm38) R1292C probably damaging Het
Slx4 A T 16: 4,000,951 (GRCm38) probably null Het
Smarca4 C A 9: 21,647,430 (GRCm38) T631K probably benign Het
Snx16 C T 3: 10,434,481 (GRCm38) R163Q possibly damaging Het
Stk40 T C 4: 126,128,895 (GRCm38) V140A probably damaging Het
Tcf12 A T 9: 71,868,240 (GRCm38) D409E probably damaging Het
Tgfbr2 G T 9: 116,110,255 (GRCm38) T168K possibly damaging Het
Ticam1 G T 17: 56,271,703 (GRCm38) H131N probably damaging Het
Ttn C A 2: 76,829,888 (GRCm38) R7458I possibly damaging Het
Ttn C A 2: 76,713,511 (GRCm38) E31298* probably null Het
Usp7 A G 16: 8,712,102 (GRCm38) V133A possibly damaging Het
Wbp1l C T 19: 46,654,180 (GRCm38) R191* probably null Het
Wdfy4 T C 14: 33,106,011 (GRCm38) E1118G probably damaging Het
Zfp81 G C 17: 33,336,845 (GRCm38) P3A probably damaging Het
Znhit6 A G 3: 145,576,933 (GRCm38) K21R possibly damaging Het
Other mutations in Casp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00684:Casp8 APN 1 58,827,314 (GRCm38) critical splice donor site probably null
IGL00825:Casp8 APN 1 58,829,006 (GRCm38) missense probably benign 0.02
IGL02025:Casp8 APN 1 58,824,147 (GRCm38) missense possibly damaging 0.81
IGL02549:Casp8 APN 1 58,833,766 (GRCm38) missense probably benign
amontillado UTSW 1 58,844,770 (GRCm38) missense probably damaging 1.00
Porto UTSW 1 58,833,698 (GRCm38) missense possibly damaging 0.89
IGL02991:Casp8 UTSW 1 58,827,279 (GRCm38) missense probably benign 0.00
R0609:Casp8 UTSW 1 58,844,792 (GRCm38) missense probably benign 0.00
R0960:Casp8 UTSW 1 58,829,013 (GRCm38) critical splice donor site probably null
R1433:Casp8 UTSW 1 58,824,124 (GRCm38) missense probably damaging 1.00
R1505:Casp8 UTSW 1 58,828,922 (GRCm38) missense probably damaging 0.99
R1506:Casp8 UTSW 1 58,824,196 (GRCm38) missense probably damaging 0.97
R1596:Casp8 UTSW 1 58,831,674 (GRCm38) splice site probably benign
R1674:Casp8 UTSW 1 58,844,416 (GRCm38) missense probably damaging 1.00
R1676:Casp8 UTSW 1 58,844,416 (GRCm38) missense probably damaging 1.00
R1981:Casp8 UTSW 1 58,828,962 (GRCm38) splice site probably null
R3909:Casp8 UTSW 1 58,844,811 (GRCm38) missense probably damaging 1.00
R3911:Casp8 UTSW 1 58,833,705 (GRCm38) missense probably damaging 1.00
R4231:Casp8 UTSW 1 58,844,770 (GRCm38) missense probably damaging 1.00
R4233:Casp8 UTSW 1 58,844,770 (GRCm38) missense probably damaging 1.00
R4234:Casp8 UTSW 1 58,844,770 (GRCm38) missense probably damaging 1.00
R4235:Casp8 UTSW 1 58,833,698 (GRCm38) missense possibly damaging 0.89
R4236:Casp8 UTSW 1 58,844,770 (GRCm38) missense probably damaging 1.00
R4917:Casp8 UTSW 1 58,827,218 (GRCm38) missense probably damaging 1.00
R4918:Casp8 UTSW 1 58,827,218 (GRCm38) missense probably damaging 1.00
R5063:Casp8 UTSW 1 58,844,374 (GRCm38) missense probably damaging 1.00
R5092:Casp8 UTSW 1 58,844,676 (GRCm38) missense possibly damaging 0.53
R5153:Casp8 UTSW 1 58,844,845 (GRCm38) missense probably benign 0.00
R5979:Casp8 UTSW 1 58,828,912 (GRCm38) missense probably benign
R7602:Casp8 UTSW 1 58,833,739 (GRCm38) missense probably benign 0.43
R7675:Casp8 UTSW 1 58,823,947 (GRCm38) missense possibly damaging 0.69
R8272:Casp8 UTSW 1 58,833,742 (GRCm38) missense probably damaging 0.96
R8714:Casp8 UTSW 1 58,833,653 (GRCm38) missense possibly damaging 0.57
R8747:Casp8 UTSW 1 58,844,458 (GRCm38) missense probably benign 0.00
R9279:Casp8 UTSW 1 58,844,383 (GRCm38) missense probably benign 0.20
Predicted Primers PCR Primer
(F):5'- CTTCCTGAGCACTTGGACATAG -3'
(R):5'- CCAGTATAGGGTAATGCCAGG -3'

Sequencing Primer
(F):5'- ACTTGGACATAGCCAGTGTC -3'
(R):5'- GGATTTTCTGGATAGCATTTGAAATG -3'
Posted On 2017-03-31