Incidental Mutation 'R4858:Casp1'
ID 372238
Institutional Source Beutler Lab
Gene Symbol Casp1
Ensembl Gene ENSMUSG00000025888
Gene Name caspase 1
Synonyms ICE, Il1bc, Caspase-1, interleukin 1 beta-converting enzyme
MMRRC Submission 042469-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4858 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 5298517-5307265 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 5306742 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 395 (R395C)
Ref Sequence ENSEMBL: ENSMUSP00000027015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027012] [ENSMUST00000027015] [ENSMUST00000160064] [ENSMUST00000162846]
AlphaFold P29452
Predicted Effect probably benign
Transcript: ENSMUST00000027012
SMART Domains Protein: ENSMUSP00000027012
Gene: ENSMUSG00000033538

CARD 1 92 7.63e-7 SMART
CASc 121 371 5.72e-134 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000027015
AA Change: R395C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027015
Gene: ENSMUSG00000025888
AA Change: R395C

CARD 4 89 4.91e-19 SMART
CASc 151 400 1.82e-136 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152651
Predicted Effect probably benign
Transcript: ENSMUST00000160064
SMART Domains Protein: ENSMUSP00000124249
Gene: ENSMUSG00000033538

CARD 1 89 4.7e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160521
Predicted Effect probably benign
Transcript: ENSMUST00000162846
SMART Domains Protein: ENSMUSP00000124402
Gene: ENSMUSG00000033538

Blast:CARD 2 36 2e-17 BLAST
PDB:1IBC|A 18 94 6e-12 PDB
SCOP:g1ibc.1 45 94 6e-15 SMART
Blast:CASc 65 94 7e-13 BLAST
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.5%
Validation Efficiency 94% (103/109)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous targeted mutants fail to produce mature IL1A and IL1B and are resistant to LPS-induced endotoxin shock and to FAS antibody-induced apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,349,577 (GRCm38) Y1415C probably damaging Het
Adgrf1 T C 17: 43,303,672 (GRCm38) S216P probably damaging Het
Ankrd12 T C 17: 66,031,433 (GRCm38) D197G probably damaging Het
Aoc3 C A 11: 101,331,662 (GRCm38) H198Q probably damaging Het
Aox1 C A 1: 58,104,481 (GRCm38) H1253N probably benign Het
Arg1 T A 10: 24,922,638 (GRCm38) E38V possibly damaging Het
Baz2b T A 2: 59,907,743 (GRCm38) M1741L probably benign Het
Bend4 T C 5: 67,417,572 (GRCm38) E322G probably damaging Het
Brpf1 T C 6: 113,317,678 (GRCm38) V661A possibly damaging Het
C2cd3 A T 7: 100,454,953 (GRCm38) T2058S probably damaging Het
Camk4 T C 18: 33,176,213 (GRCm38) V223A probably damaging Het
Ccdc180 T G 4: 45,923,244 (GRCm38) I1066S probably damaging Het
Ccne1 A G 7: 38,099,319 (GRCm38) F292L probably damaging Het
Ccz1 A T 5: 144,012,810 (GRCm38) M100K probably damaging Het
Cep128 T C 12: 91,260,162 (GRCm38) T678A probably benign Het
Cep290 G A 10: 100,494,911 (GRCm38) R151Q probably benign Het
Crip3 A G 17: 46,430,747 (GRCm38) probably benign Het
Ddx60 A G 8: 62,021,314 (GRCm38) M1479V possibly damaging Het
Defb40 T A 8: 18,975,077 (GRCm38) I38F probably benign Het
Diexf A G 1: 193,113,764 (GRCm38) Y686H probably damaging Het
Dnajb2 C T 1: 75,243,554 (GRCm38) T221I possibly damaging Het
Dpcr1 G A 17: 35,637,576 (GRCm38) T377I possibly damaging Het
Dpysl3 T C 18: 43,334,014 (GRCm38) I279V probably damaging Het
Echs1 G A 7: 140,112,586 (GRCm38) probably benign Het
Efl1 T A 7: 82,671,627 (GRCm38) N89K probably damaging Het
Extl3 T C 14: 65,075,994 (GRCm38) T580A probably benign Het
Fam171a2 C T 11: 102,440,156 (GRCm38) G193E probably damaging Het
Fam234a A T 17: 26,216,617 (GRCm38) D264E probably benign Het
Fbxw20 A T 9: 109,234,695 (GRCm38) V3D possibly damaging Het
Fig4 G A 10: 41,233,590 (GRCm38) P637L probably benign Het
Fnbp1l G A 3: 122,546,315 (GRCm38) T496I probably benign Het
Fry T C 5: 150,401,643 (GRCm38) V1175A possibly damaging Het
Gm5617 C T 9: 48,495,668 (GRCm38) A34V possibly damaging Het
Gnai1 A T 5: 18,291,598 (GRCm38) V109E probably benign Het
H2-K1 A T 17: 33,997,324 (GRCm38) Y283N probably benign Het
Hectd2 A T 19: 36,605,282 (GRCm38) I471F probably damaging Het
Hsdl2 T C 4: 59,612,812 (GRCm38) probably null Het
Igkv3-1 T C 6: 70,704,044 (GRCm38) S76P probably damaging Het
Krt15 A T 11: 100,132,071 (GRCm38) S439R probably benign Het
Lama2 TTTGCGCATT TTT 10: 27,043,643 (GRCm38) probably null Het
Lima1 G A 15: 99,819,576 (GRCm38) T23I probably benign Het
Map4k1 C A 7: 28,988,770 (GRCm38) H248Q probably damaging Het
Mcf2l C A 8: 13,013,972 (GRCm38) T1004K probably damaging Het
Micall1 T A 15: 79,122,946 (GRCm38) probably benign Het
Ms4a14 A G 19: 11,301,612 (GRCm38) I1194T probably benign Het
Mtor T C 4: 148,454,816 (GRCm38) *257Q probably null Het
Ncan T A 8: 70,104,055 (GRCm38) T961S probably benign Het
Olfr1100 T G 2: 86,978,349 (GRCm38) Y149S probably damaging Het
Olfr161 T C 16: 3,592,842 (GRCm38) S149P probably damaging Het
Olfr311 T A 11: 58,841,207 (GRCm38) L31H possibly damaging Het
Olfr331 T A 11: 58,501,909 (GRCm38) I216F probably damaging Het
Olfr389 T A 11: 73,776,546 (GRCm38) L260F probably benign Het
Olfr419 A T 1: 174,250,696 (GRCm38) I77N probably damaging Het
Pcdhgb2 A G 18: 37,692,100 (GRCm38) R715G probably benign Het
Pik3c3 T C 18: 30,344,078 (GRCm38) probably null Het
Pkhd1l1 A T 15: 44,491,101 (GRCm38) D296V probably damaging Het
Plekhh2 A G 17: 84,600,697 (GRCm38) I1189V probably damaging Het
Psg18 A T 7: 18,353,484 (GRCm38) L83Q possibly damaging Het
Rps6kc1 A G 1: 190,800,318 (GRCm38) W496R probably damaging Het
Setd5 C T 6: 113,149,566 (GRCm38) T1188I probably damaging Het
Slc4a3 T C 1: 75,555,085 (GRCm38) F899L probably damaging Het
Slitrk6 T C 14: 110,751,883 (GRCm38) T131A probably damaging Het
Speg G T 1: 75,421,735 (GRCm38) R1942L probably damaging Het
Sulf2 C A 2: 166,081,604 (GRCm38) R565L probably benign Het
Tcerg1 T C 18: 42,523,981 (GRCm38) M176T unknown Het
Tfcp2l1 T C 1: 118,669,509 (GRCm38) I440T possibly damaging Het
Tgm7 A T 2: 121,098,964 (GRCm38) probably null Het
Tjp2 C A 19: 24,122,120 (GRCm38) G433V probably damaging Het
Tldc1 T G 8: 119,772,523 (GRCm38) T77P probably benign Het
Tmc7 C T 7: 118,543,342 (GRCm38) G608R probably damaging Het
Tmed4 A G 11: 6,274,456 (GRCm38) F68S possibly damaging Het
Tmem30b G A 12: 73,545,912 (GRCm38) P143L probably damaging Het
Tnfrsf23 C T 7: 143,681,480 (GRCm38) C49Y probably damaging Het
Tnni3k A T 3: 154,786,808 (GRCm38) probably null Het
Trav12-2 G T 14: 53,616,693 (GRCm38) M41I probably benign Het
Trim6 T A 7: 104,232,485 (GRCm38) Y314* probably null Het
Ttc25 A G 11: 100,550,321 (GRCm38) N126S probably damaging Het
Vmn2r118 A G 17: 55,592,894 (GRCm38) V670A probably damaging Het
Zfp438 A T 18: 5,213,154 (GRCm38) D601E probably benign Het
Zfp606 T A 7: 12,493,056 (GRCm38) I310N possibly damaging Het
Other mutations in Casp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Casp1 APN 9 5,299,872 (GRCm38) splice site probably benign
IGL00667:Casp1 APN 9 5,303,756 (GRCm38) missense probably benign 0.40
IGL01998:Casp1 APN 9 5,303,043 (GRCm38) missense probably damaging 1.00
IGL02248:Casp1 APN 9 5,299,452 (GRCm38) missense probably benign 0.01
IGL02469:Casp1 APN 9 5,303,105 (GRCm38) missense probably benign 0.19
P0027:Casp1 UTSW 9 5,299,851 (GRCm38) missense probably benign 0.00
PIT4305001:Casp1 UTSW 9 5,306,135 (GRCm38) missense probably benign 0.03
R0724:Casp1 UTSW 9 5,303,077 (GRCm38) missense probably benign
R1169:Casp1 UTSW 9 5,299,454 (GRCm38) missense possibly damaging 0.93
R1876:Casp1 UTSW 9 5,303,663 (GRCm38) missense probably benign 0.01
R2316:Casp1 UTSW 9 5,306,213 (GRCm38) missense possibly damaging 0.92
R2877:Casp1 UTSW 9 5,303,110 (GRCm38) missense probably damaging 1.00
R2885:Casp1 UTSW 9 5,299,851 (GRCm38) missense probably benign 0.00
R4043:Casp1 UTSW 9 5,302,444 (GRCm38) missense probably benign
R4367:Casp1 UTSW 9 5,299,333 (GRCm38) missense probably benign 0.41
R4656:Casp1 UTSW 9 5,304,324 (GRCm38) missense probably damaging 1.00
R4705:Casp1 UTSW 9 5,306,204 (GRCm38) missense probably damaging 1.00
R4790:Casp1 UTSW 9 5,303,020 (GRCm38) missense probably benign 0.01
R5607:Casp1 UTSW 9 5,303,143 (GRCm38) missense probably damaging 1.00
R5784:Casp1 UTSW 9 5,299,337 (GRCm38) missense probably damaging 0.98
R6578:Casp1 UTSW 9 5,304,280 (GRCm38) missense probably benign 0.04
R7111:Casp1 UTSW 9 5,299,816 (GRCm38) missense probably benign 0.01
R7215:Casp1 UTSW 9 5,298,523 (GRCm38) splice site probably null
R7590:Casp1 UTSW 9 5,306,710 (GRCm38) missense probably damaging 1.00
R8002:Casp1 UTSW 9 5,303,164 (GRCm38) missense possibly damaging 0.94
R8510:Casp1 UTSW 9 5,303,026 (GRCm38) missense probably damaging 1.00
R8902:Casp1 UTSW 9 5,299,333 (GRCm38) missense probably benign 0.41
R9234:Casp1 UTSW 9 5,303,128 (GRCm38) missense probably benign 0.04
R9471:Casp1 UTSW 9 5,304,187 (GRCm38) missense probably benign 0.13
R9747:Casp1 UTSW 9 5,299,322 (GRCm38) missense probably damaging 1.00
T0722:Casp1 UTSW 9 5,299,851 (GRCm38) missense probably benign 0.00
X0003:Casp1 UTSW 9 5,299,851 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-03-01