Incidental Mutation 'R8747:Casp8'
ID 663581
Institutional Source Beutler Lab
Gene Symbol Casp8
Ensembl Gene ENSMUSG00000026029
Gene Name caspase 8
Synonyms MACH, Caspase-8, Mch5, FLICE
MMRRC Submission 068618-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8747 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 58834533-58886662 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58883617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 308 (N308S)
Ref Sequence ENSEMBL: ENSMUSP00000027189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027189] [ENSMUST00000165549] [ENSMUST00000190213] [ENSMUST00000191201]
AlphaFold O89110
Predicted Effect probably benign
Transcript: ENSMUST00000027189
AA Change: N308S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000027189
Gene: ENSMUSG00000026029
AA Change: N308S

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: N308S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127375
Gene: ENSMUSG00000026029
AA Change: N308S

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: N328S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000140335
Gene: ENSMUSG00000026029
AA Change: N328S

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: N328S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000140546
Gene: ENSMUSG00000026029
AA Change: N328S

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (52/52)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,632,240 (GRCm39) D190G probably benign Het
Abhd11 A G 5: 135,040,760 (GRCm39) I271V possibly damaging Het
Akap6 T G 12: 53,188,999 (GRCm39) S2138A probably benign Het
Amn C A 12: 111,241,440 (GRCm39) P235H probably damaging Het
Arf2 A T 11: 103,859,975 (GRCm39) M18L probably benign Het
Asic2 A T 11: 81,043,233 (GRCm39) F20Y possibly damaging Het
Bok T C 1: 93,622,664 (GRCm39) probably null Het
Cachd1 T A 4: 100,860,045 (GRCm39) probably benign Het
Cavin3 G T 7: 105,131,154 (GRCm39) H71Q possibly damaging Het
Ccdc87 A G 19: 4,891,646 (GRCm39) I713V probably benign Het
Clcn6 A T 4: 148,093,354 (GRCm39) probably null Het
Cmas T C 6: 142,716,927 (GRCm39) I273T possibly damaging Het
Ctxn3 A T 18: 57,610,378 (GRCm39) D65V probably damaging Het
D130040H23Rik C A 8: 69,755,705 (GRCm39) N387K probably benign Het
Depp1 T A 6: 116,629,122 (GRCm39) L155Q possibly damaging Het
Dnah9 T C 11: 65,818,816 (GRCm39) K3174R possibly damaging Het
Ecpas C T 4: 58,828,632 (GRCm39) V934I probably damaging Het
Efcab14 A G 4: 115,603,793 (GRCm39) N157S probably damaging Het
Ets1 G A 9: 32,641,474 (GRCm39) G109D probably damaging Het
Fbln5 G A 12: 101,734,754 (GRCm39) R173C probably damaging Het
Fchsd1 G A 18: 38,096,035 (GRCm39) P525L probably benign Het
Gmppa G A 1: 75,416,025 (GRCm39) V156I probably damaging Het
Gtpbp1 A G 15: 79,603,482 (GRCm39) D182G Het
Ift140 T A 17: 25,254,809 (GRCm39) S430T probably benign Het
Kat7 G C 11: 95,185,392 (GRCm39) C161W probably damaging Het
Lipk T A 19: 33,996,184 (GRCm39) M32K probably damaging Het
Lum A T 10: 97,404,351 (GRCm39) D82V possibly damaging Het
Macf1 C A 4: 123,248,944 (GRCm39) A7196S probably damaging Het
Mroh2b T A 15: 4,964,782 (GRCm39) S926T probably damaging Het
Nbn G T 4: 15,981,555 (GRCm39) R549I probably damaging Het
Nfu1 T C 6: 86,996,400 (GRCm39) I117T probably damaging Het
Or51f1 T C 7: 102,506,139 (GRCm39) T117A probably benign Het
Or7a39 A G 10: 78,715,155 (GRCm39) T50A probably benign Het
Parp1 T C 1: 180,422,275 (GRCm39) L778P probably damaging Het
Pbld2 G T 10: 62,888,069 (GRCm39) V125F probably benign Het
Prkag2 A G 5: 25,085,680 (GRCm39) probably null Het
Prss54 A G 8: 96,286,351 (GRCm39) F241L probably benign Het
Rnf121 T C 7: 101,678,316 (GRCm39) D177G probably damaging Het
Slc12a7 G A 13: 73,933,241 (GRCm39) V100I probably benign Het
Slc28a1 C T 7: 80,774,719 (GRCm39) L189F possibly damaging Het
Slc35a3 T C 3: 116,488,219 (GRCm39) Q16R probably damaging Het
Snap91 A G 9: 86,686,577 (GRCm39) F354L probably damaging Het
Steap2 A G 5: 5,723,539 (GRCm39) I447T probably benign Het
Tagap T A 17: 8,147,602 (GRCm39) I104N probably damaging Het
Tas1r2 A G 4: 139,387,318 (GRCm39) D259G probably benign Het
Tgm3 T C 2: 129,886,452 (GRCm39) S558P probably benign Het
Tuba3a A G 6: 125,258,018 (GRCm39) V324A probably damaging Het
Vmn1r238 T G 18: 3,123,232 (GRCm39) I61L possibly damaging Het
Vmn1r52 A G 6: 90,156,451 (GRCm39) T252A probably benign Het
Vmp1 A G 11: 86,492,885 (GRCm39) V308A probably damaging Het
Wdfy4 A C 14: 32,874,611 (GRCm39) V159G Het
Zfp180 A G 7: 23,804,687 (GRCm39) T369A possibly damaging Het
Zfp827 A G 8: 79,755,316 (GRCm39) M1V probably null Het
Zmym4 A G 4: 126,787,198 (GRCm39) I1031T 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
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
R9279:Casp8 UTSW 1 58,883,542 (GRCm39) missense probably benign 0.20
Predicted Primers PCR Primer
(F):5'- AGCCTGTACAATCCGATTGG -3'
(R):5'- TTCCTTGGCAAGCCTGAATG -3'

Sequencing Primer
(F):5'- TGATGCAGAAGGACCGCTC -3'
(R):5'- TTCCTTGGCAAGCCTGAATGAAAAAG -3'
Posted On 2021-03-08