Incidental Mutation 'R8272:Casp8'
ID 637752
Institutional Source Beutler Lab
Gene Symbol Casp8
Ensembl Gene ENSMUSG00000026029
Gene Name caspase 8
Synonyms MACH, Caspase-8, Mch5, FLICE
MMRRC Submission 067695-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8272 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 58834533-58886662 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 58872901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 259 (M259R)
Ref Sequence ENSEMBL: ENSMUSP00000027189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027189] [ENSMUST00000165549] [ENSMUST00000190213] [ENSMUST00000191201]
AlphaFold O89110
Predicted Effect probably damaging
Transcript: ENSMUST00000027189
AA Change: M259R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027189
Gene: ENSMUSG00000026029
AA Change: M259R

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: M259R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127375
Gene: ENSMUSG00000026029
AA Change: M259R

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: M279R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140335
Gene: ENSMUSG00000026029
AA Change: M279R

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: M279R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140546
Gene: ENSMUSG00000026029
AA Change: M279R

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: 98.6%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik G A 2: 103,856,499 (GRCm39) R21C unknown Het
4933407L21Rik G T 1: 85,859,118 (GRCm39) E90* probably null Het
Abca15 A G 7: 120,006,665 (GRCm39) Y1643C probably damaging Het
Adtrp G T 13: 41,969,630 (GRCm39) A123D probably damaging Het
Asmt A T X: 169,106,460 (GRCm39) D20V possibly damaging Het
Bid T C 6: 120,877,176 (GRCm39) E55G probably damaging Het
Brd3 A G 2: 27,351,725 (GRCm39) V176A probably benign Het
Btnl2 G T 17: 34,575,275 (GRCm39) probably null Het
Card11 A G 5: 140,875,794 (GRCm39) S562P probably damaging Het
Carmil1 T G 13: 24,220,562 (GRCm39) H1054P probably benign Het
Ccin G A 4: 43,984,064 (GRCm39) R157H probably damaging Het
Cfap45 G A 1: 172,355,406 (GRCm39) R18Q possibly damaging Het
Chuk A G 19: 44,092,175 (GRCm39) I41T possibly damaging Het
Col28a1 G A 6: 8,154,175 (GRCm39) P333L possibly damaging Het
Cspg4b A T 13: 113,504,889 (GRCm39) D1979V Het
Ctnna3 T G 10: 64,838,377 (GRCm39) V818G probably damaging Het
Cyp4f18 G T 8: 72,742,935 (GRCm39) L456M probably benign Het
Ddx50 A G 10: 62,457,256 (GRCm39) V598A probably benign Het
Dhrs7b C A 11: 60,742,580 (GRCm39) Q91K probably benign Het
Dnah11 T A 12: 118,074,752 (GRCm39) T1367S probably benign Het
Fam98b T A 2: 117,093,335 (GRCm39) C183S probably benign Het
Fbxl12 C A 9: 20,550,160 (GRCm39) R165L possibly damaging Het
Fbxw15 A C 9: 109,388,828 (GRCm39) S194A probably benign Het
Flrt3 G T 2: 140,502,617 (GRCm39) P337Q probably damaging Het
Gm12695 A G 4: 96,612,183 (GRCm39) Y527H possibly damaging Het
Gramd1b T C 9: 40,215,820 (GRCm39) T677A probably benign Het
Grm8 A T 6: 27,363,281 (GRCm39) S745T probably damaging Het
Kctd8 T C 5: 69,267,803 (GRCm39) K436E probably benign Het
Klf5 G T 14: 99,539,540 (GRCm39) A318S possibly damaging Het
L3mbtl3 C T 10: 26,179,566 (GRCm39) V505M unknown Het
Letm2 A G 8: 26,076,672 (GRCm39) L310P probably damaging Het
Lrrc4 T C 6: 28,662,192 (GRCm39) H174R unknown Het
Myh11 T C 16: 14,036,718 (GRCm39) S995G Het
Myh7b A T 2: 155,474,824 (GRCm39) E1787D probably damaging Het
Myoc T C 1: 162,466,995 (GRCm39) S55P probably benign Het
Naaladl2 T C 3: 24,112,366 (GRCm39) Q572R probably damaging Het
Nanog T A 6: 122,688,736 (GRCm39) S131T probably benign Het
Nifk A G 1: 118,260,134 (GRCm39) K230E probably benign Het
Nlrp10 A G 7: 108,525,103 (GRCm39) S126P probably benign Het
Npc1l1 T A 11: 6,179,327 (GRCm39) K28* probably null Het
Or13m2-ps1 A G 6: 42,778,038 (GRCm39) D121G probably damaging Het
Or5b102 G A 19: 13,040,795 (GRCm39) V7M possibly damaging Het
Pcdhac2 T A 18: 37,279,242 (GRCm39) C741S probably benign Het
Pcx A T 19: 4,651,758 (GRCm39) N45I probably damaging Het
Peak1 A G 9: 56,166,182 (GRCm39) V582A probably damaging Het
Plcxd3 G T 15: 4,546,218 (GRCm39) R74L probably damaging Het
Ptpn21 G A 12: 98,654,789 (GRCm39) A726V probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rimbp3 T C 16: 17,026,969 (GRCm39) V131A possibly damaging Het
Rrp1b A G 17: 32,276,163 (GRCm39) K570R probably benign Het
Serpinb1a A T 13: 33,029,720 (GRCm39) F167L probably damaging Het
Slc12a1 T C 2: 125,070,736 (GRCm39) L1076S probably damaging Het
Sspo A T 6: 48,425,453 (GRCm39) T25S probably benign Het
Syvn1 G A 19: 6,097,971 (GRCm39) R3H probably damaging Het
Tead2 A G 7: 44,878,166 (GRCm39) E280G probably benign Het
Tmem263 T A 10: 84,950,431 (GRCm39) V74E possibly damaging Het
Tmem38b T A 4: 53,854,332 (GRCm39) L188Q probably damaging Het
Tmod4 C T 3: 95,033,171 (GRCm39) T55I probably damaging Het
Tmprss12 A T 15: 100,180,146 (GRCm39) E62V probably benign Het
Trim27 G A 13: 21,364,780 (GRCm39) C39Y probably benign Het
Vmn2r110 A G 17: 20,816,490 (GRCm39) L11S probably damaging Het
Vmn2r125 A G 4: 156,702,373 (GRCm39) Y53C probably damaging Het
Vmn2r65 A T 7: 84,596,817 (GRCm39) F79L probably benign Het
Vps13a A G 19: 16,727,209 (GRCm39) probably null Het
Zdbf2 A G 1: 63,345,142 (GRCm39) T1174A probably benign Het
Zfhx4 T G 3: 5,308,927 (GRCm39) S718A probably damaging Het
Zfp78 A G 7: 6,376,213 (GRCm39) T41A 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
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
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'- TTGGACATAGCCAGTGTCTG -3'
(R):5'- CCAGTATAGGGTAATGCCAGGG -3'

Sequencing Primer
(F):5'- ACATAGCCAGTGTCTGAGCTG -3'
(R):5'- GGATTTTCTGGATAGCATTTGAAATG -3'
Posted On 2020-07-28