Incidental Mutation 'R1676:Casp8'
ID 188036
Institutional Source Beutler Lab
Gene Symbol Casp8
Ensembl Gene ENSMUSG00000026029
Gene Name caspase 8
Synonyms MACH, Caspase-8, Mch5, FLICE
MMRRC Submission 039712-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1676 (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 58883575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 314 (I314N)
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: I294N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027189
Gene: ENSMUSG00000026029
AA Change: I294N

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: I294N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127375
Gene: ENSMUSG00000026029
AA Change: I294N

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: I314N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140335
Gene: ENSMUSG00000026029
AA Change: I314N

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: I314N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140546
Gene: ENSMUSG00000026029
AA Change: I314N

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 0.9110 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G T 11: 58,771,819 (GRCm39) A434S possibly damaging Het
Abhd8 T A 8: 71,914,517 (GRCm39) D37V probably damaging Het
Acvr2a G A 2: 48,763,095 (GRCm39) S97N probably benign Het
Ampd3 T A 7: 110,394,940 (GRCm39) H296Q probably damaging Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
Cap2 T G 13: 46,791,335 (GRCm39) H167Q probably damaging Het
Car8 A G 4: 8,185,616 (GRCm39) L180S probably damaging Het
Cavin2 T A 1: 51,340,330 (GRCm39) S336T probably benign Het
Cdc14b A T 13: 64,373,416 (GRCm39) I119N possibly damaging Het
Cemip T A 7: 83,613,246 (GRCm39) I651F possibly damaging Het
Cfap57 T A 4: 118,453,137 (GRCm39) D522V probably damaging Het
Clrn3 A T 7: 135,120,307 (GRCm39) V93D probably damaging Het
Crppa T C 12: 36,526,720 (GRCm39) C170R probably benign Het
Cyp4f39 A G 17: 32,701,176 (GRCm39) D222G probably benign Het
D5Ertd579e A G 5: 36,773,453 (GRCm39) V314A probably benign Het
Dchs1 C T 7: 105,404,128 (GRCm39) V2805I probably benign Het
Dsp A T 13: 38,377,350 (GRCm39) K1712* probably null Het
Emilin2 T C 17: 71,581,085 (GRCm39) D547G probably benign Het
Erbb3 T C 10: 128,419,117 (GRCm39) H248R probably benign Het
Erich3 A G 3: 154,468,260 (GRCm39) probably benign Het
Fbn1 T C 2: 125,151,701 (GRCm39) T2518A probably damaging Het
Fzd2 G A 11: 102,496,707 (GRCm39) V384M probably damaging Het
Gpc5 T A 14: 115,607,510 (GRCm39) S371T probably damaging Het
Hbb-bh2 T C 7: 103,488,362 (GRCm39) K145R probably null Het
Hectd1 G T 12: 51,791,571 (GRCm39) P2558Q probably damaging Het
Hgsnat C T 8: 26,444,633 (GRCm39) probably null Het
Hirip3 T C 7: 126,462,647 (GRCm39) probably null Het
Itpkc T C 7: 26,907,706 (GRCm39) D666G probably damaging Het
Jmjd1c T A 10: 67,060,588 (GRCm39) D693E probably benign Het
Katnbl1 T C 2: 112,236,454 (GRCm39) L60P probably damaging Het
Kcna1 T A 6: 126,619,645 (GRCm39) E225V probably damaging Het
Kcnj6 T A 16: 94,633,443 (GRCm39) M223L probably damaging Het
Kcnk7 G T 19: 5,757,006 (GRCm39) V332F probably benign Het
Kmt5a GAA GA 5: 124,597,948 (GRCm39) probably null Het
Mdga2 C A 12: 66,615,546 (GRCm39) G618V probably damaging Het
Mdga2 C A 12: 66,615,547 (GRCm39) G618* probably null Het
Morc2b T C 17: 33,354,955 (GRCm39) E939G possibly damaging Het
Mstn T A 1: 53,101,224 (GRCm39) D100E probably benign Het
Mthfd1l G A 10: 4,033,877 (GRCm39) probably null Het
Muc20 T A 16: 32,614,649 (GRCm39) T243S probably damaging Het
Myo1d A T 11: 80,575,247 (GRCm39) N156K probably damaging Het
Myo7a A G 7: 97,748,679 (GRCm39) probably null Het
Naa35 A T 13: 59,760,490 (GRCm39) Q274L probably damaging Het
Ncam1 G A 9: 49,468,472 (GRCm39) T329I probably damaging Het
Nisch T C 14: 30,902,859 (GRCm39) probably benign Het
Nlrp1b A T 11: 71,073,637 (GRCm39) W69R probably benign Het
Nrap T A 19: 56,323,687 (GRCm39) H1294L probably damaging Het
Nsun6 T A 2: 15,052,024 (GRCm39) R56* probably null Het
Nudt1 A G 5: 140,320,378 (GRCm39) probably null Het
Nxph4 T G 10: 127,362,077 (GRCm39) K271N probably damaging Het
Or1af1 A T 2: 37,109,653 (GRCm39) R51* probably null Het
Or4a66 T G 2: 88,531,661 (GRCm39) H4P probably benign Het
Or51e2 T A 7: 102,391,605 (GRCm39) I202F probably damaging Het
Or52a20 T C 7: 103,366,319 (GRCm39) W173R probably benign Het
Otud6b T A 4: 14,825,617 (GRCm39) N71I probably damaging Het
Parp8 T A 13: 117,014,064 (GRCm39) D623V probably damaging Het
Pcdhb5 T C 18: 37,453,805 (GRCm39) S62P probably benign Het
Ppp1r12b A G 1: 134,705,190 (GRCm39) S833P probably damaging Het
Ppp1r1a T G 15: 103,441,915 (GRCm39) D51A probably damaging Het
Prag1 C A 8: 36,570,052 (GRCm39) P212T probably damaging Het
Prxl2b C T 4: 154,981,520 (GRCm39) V186I probably benign Het
Ptdss1 A G 13: 67,081,701 (GRCm39) T44A probably damaging Het
Rab14 T C 2: 35,076,735 (GRCm39) H83R possibly damaging Het
Rapgef3 C T 15: 97,659,063 (GRCm39) G101E probably benign Het
Rimbp3 T A 16: 17,028,977 (GRCm39) D800E probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Selenbp1 A G 3: 94,851,854 (GRCm39) D465G probably damaging Het
Slc28a2b T C 2: 122,352,340 (GRCm39) S366P probably damaging Het
Slc29a1 T C 17: 45,899,936 (GRCm39) D251G probably damaging Het
Slc6a11 G T 6: 114,224,627 (GRCm39) V604F probably benign Het
Sltm T A 9: 70,480,929 (GRCm39) D260E probably damaging Het
Spta1 G A 1: 174,007,405 (GRCm39) V212M probably damaging Het
St6gal2 T C 17: 55,803,396 (GRCm39) probably null Het
Tc2n A G 12: 101,655,251 (GRCm39) S235P probably damaging Het
Tenm3 T A 8: 48,870,154 (GRCm39) N213I possibly damaging Het
Ticam2 T C 18: 46,693,677 (GRCm39) T137A probably damaging Het
Ttn TCCC TCCCC 2: 76,573,251 (GRCm39) probably null Het
Tyk2 G A 9: 21,026,545 (GRCm39) Q684* probably null Het
Ubqln1 A G 13: 58,327,205 (GRCm39) F478S possibly damaging Het
Uckl1 G A 2: 181,216,711 (GRCm39) T78I probably damaging Het
Uhmk1 A G 1: 170,027,581 (GRCm39) V372A probably damaging Het
Unc5c G A 3: 141,463,598 (GRCm39) V240I possibly damaging Het
Ush2a T C 1: 188,460,782 (GRCm39) L2681P probably damaging Het
Vmn2r1 C T 3: 63,997,603 (GRCm39) Q420* probably null Het
Vmn2r101 A T 17: 19,832,184 (GRCm39) T727S probably benign Het
Vmn2r79 A G 7: 86,651,839 (GRCm39) T413A probably benign Het
Vps13c T C 9: 67,834,244 (GRCm39) V1637A probably benign Het
Xpc A G 6: 91,469,929 (GRCm39) V765A possibly damaging Het
Zbtb18 T G 1: 177,274,913 (GRCm39) probably null Het
Zfp712 A T 13: 67,200,400 (GRCm39) D28E probably benign Het
Zfp735 A G 11: 73,602,301 (GRCm39) N415S possibly 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
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'- GCAGTACACAGCACTTTCAGCAGG -3'
(R):5'- AACGCAGTTCTTCACCGTAGCC -3'

Sequencing Primer
(F):5'- ATAAGGAGCCTGTACAATCCG -3'
(R):5'- GAAGTTACTTCCTTGGCAAGC -3'
Posted On 2014-05-09