Incidental Mutation 'R8714:Casp8'
ID 669744
Institutional Source Beutler Lab
Gene Symbol Casp8
Ensembl Gene ENSMUSG00000026029
Gene Name caspase 8
Synonyms MACH, Caspase-8, Mch5, FLICE
MMRRC Submission 068568-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8714 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 58834533-58886662 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58872812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 229 (Q229H)
Ref Sequence ENSEMBL: ENSMUSP00000027189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027189] [ENSMUST00000165549] [ENSMUST00000190213] [ENSMUST00000191201]
AlphaFold O89110
Predicted Effect possibly damaging
Transcript: ENSMUST00000027189
AA Change: Q229H

PolyPhen 2 Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027189
Gene: ENSMUSG00000026029
AA Change: Q229H

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: Q229H

PolyPhen 2 Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000127375
Gene: ENSMUSG00000026029
AA Change: Q229H

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: Q249H

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140335
Gene: ENSMUSG00000026029
AA Change: Q249H

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: Q249H

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140546
Gene: ENSMUSG00000026029
AA Change: Q249H

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: 98.7%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,100,093 (GRCm39) A137T probably benign Het
4930474N05Rik T A 14: 35,818,456 (GRCm39) C151* probably null Het
Abca4 A G 3: 121,942,528 (GRCm39) T1674A probably benign Het
Acat3 A T 17: 13,147,516 (GRCm39) V167E probably benign Het
Alb T C 5: 90,608,874 (GRCm39) probably null Het
Apol9a T C 15: 77,288,942 (GRCm39) T142A probably benign Het
Asb14 C T 14: 26,623,032 (GRCm39) P135S possibly damaging Het
Asb17 A G 3: 153,556,313 (GRCm39) Y140C probably damaging Het
Atp4a T A 7: 30,420,013 (GRCm39) I750N probably damaging Het
Bard1 T C 1: 71,069,986 (GRCm39) Y664C probably damaging Het
Cacnb3 G A 15: 98,530,262 (GRCm39) probably benign Het
Card11 T A 5: 140,899,147 (GRCm39) D9V possibly damaging Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Cd209d CAT C 8: 3,923,772 (GRCm39) probably null Het
Cep350 T C 1: 155,736,477 (GRCm39) D2853G probably damaging Het
Cfap161 T C 7: 83,442,482 (GRCm39) I110M probably benign Het
Chid1 T A 7: 141,093,678 (GRCm39) K313* probably null Het
Col16a1 T A 4: 129,947,961 (GRCm39) I227N unknown Het
D3Ertd751e G T 3: 41,700,998 (GRCm39) E6* probably null Het
Ddx41 T C 13: 55,682,250 (GRCm39) Q208R probably damaging Het
Dhrs13 G C 11: 77,923,492 (GRCm39) R70P possibly damaging Het
Dmrta1 A T 4: 89,579,682 (GRCm39) Q214L probably benign Het
Eif2ak4 T C 2: 118,292,765 (GRCm39) F1330L possibly damaging Het
Fbxw13 C T 9: 109,023,832 (GRCm39) V71I probably benign Het
H2-Q2 T C 17: 35,562,338 (GRCm39) L195P possibly damaging Het
Hemgn C T 4: 46,395,904 (GRCm39) G444D probably damaging Het
Lmtk2 A G 5: 144,112,876 (GRCm39) T1199A probably damaging Het
Ly75 T C 2: 60,164,829 (GRCm39) D783G probably damaging Het
Micall1 G A 15: 79,011,510 (GRCm39) A627T probably benign Het
Morc2a C T 11: 3,625,877 (GRCm39) T159I probably benign Het
Mthfr C A 4: 148,126,275 (GRCm39) N115K probably damaging Het
Muc1 G A 3: 89,138,821 (GRCm39) V477M possibly damaging Het
Mug1 C T 6: 121,859,681 (GRCm39) P1227S probably benign Het
Ogfod3 T A 11: 121,087,608 (GRCm39) D163V possibly damaging Het
Or51a43 T A 7: 103,717,483 (GRCm39) I252F probably damaging Het
Pcnx2 C T 8: 126,500,546 (GRCm39) V1515I probably benign Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plscr3 G T 11: 69,738,838 (GRCm39) G167C probably benign Het
Plxna4 T A 6: 32,140,379 (GRCm39) K1670* probably null Het
Prb1c G A 6: 132,341,051 (GRCm39) T7I unknown Het
Rab7 T C 6: 87,989,369 (GRCm39) S34G probably damaging Het
Rnf157 C A 11: 116,237,891 (GRCm39) A577S probably benign Het
Rnf213 C T 11: 119,359,720 (GRCm39) S4371L Het
S1pr1 A T 3: 115,505,470 (GRCm39) S375T probably benign Het
Spen T C 4: 141,215,314 (GRCm39) N506S unknown Het
Sulf1 T A 1: 12,878,141 (GRCm39) Y210N probably benign Het
Tenm4 C T 7: 96,555,148 (GRCm39) P2618S probably benign Het
Tg A G 15: 66,555,891 (GRCm39) N861S probably damaging Het
Ttc29 A G 8: 79,060,331 (GRCm39) E417G possibly damaging Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Ubxn7 T A 16: 32,186,229 (GRCm39) probably benign Het
Vmn1r62 C A 7: 5,678,629 (GRCm39) Y103* probably null Het
Zfp804b A T 5: 6,822,378 (GRCm39) Y228* probably null 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
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'- ATTCAGCAGGTCCAGGCCTA -3'
(R):5'- AAGTATAACTACTGCTCTCTCCTTT -3'

Sequencing Primer
(F):5'- AGGCCTACTGACCATGCAG -3'
(R):5'- CTCCTTTTTGGTTAAAGAAAGGTCC -3'
Posted On 2021-04-30