Incidental Mutation 'R1433:Casp8'
ID 159284
Institutional Source Beutler Lab
Gene Symbol Casp8
Ensembl Gene ENSMUSG00000026029
Gene Name caspase 8
Synonyms MACH, Caspase-8, Mch5, FLICE
MMRRC Submission 039488-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1433 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 58834533-58886662 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58863283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 81 (F81Y)
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: F61Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027189
Gene: ENSMUSG00000026029
AA Change: F61Y

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: F61Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127375
Gene: ENSMUSG00000026029
AA Change: F61Y

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: F81Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140335
Gene: ENSMUSG00000026029
AA Change: F81Y

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: F81Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140546
Gene: ENSMUSG00000026029
AA Change: F81Y

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: 97.9%
  • 10x: 94.8%
  • 20x: 87.9%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp1 C T 12: 30,945,934 (GRCm39) E140K possibly damaging Het
Acsm4 T A 7: 119,293,042 (GRCm39) D57E probably damaging Het
Adamts9 A G 6: 92,826,271 (GRCm39) probably null Het
Aen T A 7: 78,557,060 (GRCm39) Y303N probably damaging Het
Alcam T C 16: 52,116,115 (GRCm39) probably null Het
Apol7b A G 15: 77,309,746 (GRCm39) L17P probably damaging Het
Cacna1c A T 6: 118,629,754 (GRCm39) Y1058* probably null Het
Camk2d T C 3: 126,601,873 (GRCm39) V354A probably benign Het
Carf T G 1: 60,164,017 (GRCm39) M43R probably damaging Het
Cd74 G A 18: 60,937,064 (GRCm39) R20H probably benign Het
Cers5 A T 15: 99,643,812 (GRCm39) Y16* probably null Het
Chuk A T 19: 44,067,397 (GRCm39) M586K probably null Het
D130043K22Rik C A 13: 25,055,324 (GRCm39) P496Q probably damaging Het
Dab2 A G 15: 6,459,419 (GRCm39) R311G probably damaging Het
Depp1 A T 6: 116,629,223 (GRCm39) S189C possibly damaging Het
Diaph1 A T 18: 38,038,187 (GRCm39) I48N unknown Het
Dnajc13 T C 9: 104,057,320 (GRCm39) D1560G probably damaging Het
Dsg2 T C 18: 20,715,780 (GRCm39) S241P probably damaging Het
Efcab5 T C 11: 76,996,204 (GRCm39) D1119G probably benign Het
Efr3a G T 15: 65,740,906 (GRCm39) probably benign Het
Evc2 A G 5: 37,550,427 (GRCm39) K814E probably damaging Het
Hic2 A G 16: 17,076,686 (GRCm39) D505G probably benign Het
Ing1 T A 8: 11,607,010 (GRCm39) V34D probably damaging Het
Inpp5k A G 11: 75,528,317 (GRCm39) M172V probably benign Het
Itgae T C 11: 73,006,418 (GRCm39) V362A probably damaging Het
Lama2 T A 10: 27,063,750 (GRCm39) R1346S probably damaging Het
Lrrc7 T C 3: 157,882,943 (GRCm39) N450S probably damaging Het
Lrrn3 T A 12: 41,502,583 (GRCm39) Y578F possibly damaging Het
Maml2 A T 9: 13,617,797 (GRCm39) N381I probably damaging Het
Mettl15 T G 2: 108,923,266 (GRCm39) E385D probably benign Het
Mthfr T A 4: 148,139,900 (GRCm39) I623N possibly damaging Het
Muc4 A C 16: 32,574,448 (GRCm39) N966T probably benign Het
Myoc A G 1: 162,476,565 (GRCm39) Y423C probably damaging Het
Ncoa2 A T 1: 13,218,602 (GRCm39) M1409K probably benign Het
Ncor2 T C 5: 125,187,039 (GRCm39) probably benign Het
Numb T C 12: 83,844,033 (GRCm39) E395G probably damaging Het
Oas1g A G 5: 121,020,012 (GRCm39) F198S probably damaging Het
Or2b28 T C 13: 21,531,194 (GRCm39) V32A probably benign Het
Or5k17 A G 16: 58,746,049 (GRCm39) V295A probably benign Het
Prdm13 T A 4: 21,678,909 (GRCm39) Y527F probably damaging Het
Prr14l A G 5: 32,986,177 (GRCm39) L1106P probably damaging Het
Ptbp1 T A 10: 79,699,107 (GRCm39) I555N probably damaging Het
Ptchd4 A T 17: 42,814,606 (GRCm39) T836S possibly damaging Het
Rlbp1 T C 7: 79,033,686 (GRCm39) D3G probably benign Het
Sdk2 T C 11: 113,685,871 (GRCm39) E1883G probably damaging Het
Serpinc1 A T 1: 160,820,974 (GRCm39) K140N probably damaging Het
Serpind1 A T 16: 17,160,249 (GRCm39) Y382F probably damaging Het
Slc28a3 T C 13: 58,710,920 (GRCm39) E534G probably damaging Het
Slco1a7 A G 6: 141,711,429 (GRCm39) M94T probably benign Het
Ttyh2 T A 11: 114,601,005 (GRCm39) I418N probably benign Het
Tubgcp4 C T 2: 121,005,905 (GRCm39) Q98* probably null Het
Ugt2a2 A G 5: 87,611,965 (GRCm39) L315P probably damaging Het
Vwa1 A T 4: 155,857,358 (GRCm39) S147T probably damaging Het
Xylt1 T C 7: 117,191,179 (GRCm39) V325A possibly damaging Het
Zfp335 T C 2: 164,741,376 (GRCm39) H685R 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
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
Predicted Primers PCR Primer
(F):5'- GTGTTGACCCAGGTTACAGCTCTTC -3'
(R):5'- TTTAGCCCGCAGTCTCACAAGTC -3'

Sequencing Primer
(F):5'- GCTCTTCTACCTCTTGATAAGAATGG -3'
(R):5'- TTCACACATGTCACAGGGG -3'
Posted On 2014-03-14