Incidental Mutation 'IGL02991:Casp8'
ID 452893
Institutional Source Beutler Lab
Gene Symbol Casp8
Ensembl Gene ENSMUSG00000026029
Gene Name caspase 8
Synonyms MACH, Caspase-8, Mch5, FLICE
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02991 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 58834533-58886662 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58866438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 146 (N146K)
Ref Sequence ENSEMBL: ENSMUSP00000140546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027189] [ENSMUST00000165549] [ENSMUST00000190213] [ENSMUST00000191201]
AlphaFold O89110
Predicted Effect probably benign
Transcript: ENSMUST00000027189
AA Change: N126K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000027189
Gene: ENSMUSG00000026029
AA Change: N126K

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: N126K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127375
Gene: ENSMUSG00000026029
AA Change: N126K

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: N146K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000140335
Gene: ENSMUSG00000026029
AA Change: N146K

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: N146K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000140546
Gene: ENSMUSG00000026029
AA Change: N146K

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 0.0898 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 95% (73/77)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Adam23 T C 1: 63,586,978 (GRCm39) probably null Het
Aptx C A 4: 40,686,687 (GRCm39) G199C probably damaging Het
Asap2 T C 12: 21,299,294 (GRCm39) probably benign Het
Atp11b A G 3: 35,881,140 (GRCm39) T566A probably benign Het
Bcas3 C T 11: 85,348,713 (GRCm39) Q202* probably null Het
Cacna1h C A 17: 25,610,286 (GRCm39) R740L possibly damaging Het
Ccdc63 T C 5: 122,246,275 (GRCm39) M549V probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh20 T C 1: 104,861,972 (GRCm39) S51P probably benign Het
Chd7 T C 4: 8,828,398 (GRCm39) M1113T possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Crb1 ACC AC 1: 139,164,822 (GRCm39) probably null Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Cxcl11 C T 5: 92,509,169 (GRCm39) R28H probably damaging Het
Defb40 C T 8: 19,025,119 (GRCm39) C29Y probably damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Fen1 A T 19: 10,178,026 (GRCm39) D139E probably benign Het
Frem3 A G 8: 81,395,511 (GRCm39) E1846G probably damaging Het
Gria2 T A 3: 80,615,116 (GRCm39) K455* probably null Het
Hmcn1 A T 1: 150,614,409 (GRCm39) N1332K possibly damaging Het
Htr5b C T 1: 121,455,756 (GRCm39) V55M probably benign Het
Ighv6-5 A T 12: 114,380,315 (GRCm39) N86K probably benign Het
Il4ra T C 7: 125,174,833 (GRCm39) V347A possibly damaging Het
Itih5 A G 2: 10,256,162 (GRCm39) E876G probably benign Het
Itpkb A T 1: 180,155,279 (GRCm39) probably benign Het
Lbr T C 1: 181,649,117 (GRCm39) Y334C probably damaging Het
Lrfn2 T C 17: 49,377,732 (GRCm39) L271P probably damaging Het
Lss T A 10: 76,379,745 (GRCm39) probably benign Het
Map1a T C 2: 121,132,091 (GRCm39) V731A probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mob3b T A 4: 35,083,805 (GRCm39) Q128L probably benign Het
Mog T C 17: 37,334,091 (GRCm39) M1V probably null Het
Mrpl4 A G 9: 20,919,901 (GRCm39) Y284C probably damaging Het
Mtus2 T G 5: 148,250,310 (GRCm39) V310G probably damaging Het
Mup11 ACAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCA 4: 60,618,275 (GRCm39) probably benign Het
Odad4 A G 11: 100,444,698 (GRCm39) S285G probably benign Het
Or10g9 T C 9: 39,911,698 (GRCm39) Y275C probably damaging Het
Or8g55 T A 9: 39,785,362 (GRCm39) S264T probably benign Het
Orc3 T G 4: 34,593,083 (GRCm39) Q328P probably damaging Het
Otulinl T C 15: 27,658,388 (GRCm39) S211G possibly damaging Het
Pcdhb20 G T 18: 37,639,264 (GRCm39) G597C probably damaging Het
Pdxdc1 A G 16: 13,675,260 (GRCm39) I334T probably damaging Het
Ppef2 C T 5: 92,383,759 (GRCm39) W450* probably null Het
Proz G A 8: 13,123,490 (GRCm39) E254K probably benign Het
Psma6 T C 12: 55,454,357 (GRCm39) probably benign Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Ryr2 A G 13: 11,776,192 (GRCm39) V1115A probably damaging Het
Sfxn5 G T 6: 85,266,190 (GRCm39) N102K possibly damaging Het
Sgo2a G T 1: 58,054,514 (GRCm39) probably benign Het
Slc14a2 A T 18: 78,249,049 (GRCm39) M1K probably null Het
Spag5 T A 11: 78,205,077 (GRCm39) L621M probably damaging Het
Spata31 A G 13: 65,068,533 (GRCm39) Y227C probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Supt6 T C 11: 78,116,179 (GRCm39) E728G probably damaging Het
Sympk T A 7: 18,764,502 (GRCm39) L69Q probably damaging Het
Timd4 T A 11: 46,732,974 (GRCm39) probably benign Het
Trh G A 6: 92,220,719 (GRCm39) R48W probably damaging Het
Trip12 C A 1: 84,716,536 (GRCm39) D383Y probably damaging Het
Tspo2 T A 17: 48,757,014 (GRCm39) I23F possibly damaging Het
Tspyl5 A G 15: 33,686,989 (GRCm39) S319P probably damaging Het
Txlnb A G 10: 17,717,201 (GRCm39) K403E probably damaging Het
Vmn2r34 C A 7: 7,675,720 (GRCm39) C556F probably damaging Het
Vps13c C A 9: 67,821,159 (GRCm39) A1223E 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
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
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'- ATTTTAAGGAAGCCCTGGGAGTG -3'
(R):5'- TGCTTACGGTGCAGAAAGTG -3'

Sequencing Primer
(F):5'- AGTGAGCCCTGCTGTGACTG -3'
(R):5'- TCCAGCCTTGACGATAATGG -3'
Posted On 2017-01-24