Incidental Mutation 'IGL02248:Casp1'
ID 286286
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Casp1
Ensembl Gene ENSMUSG00000025888
Gene Name caspase 1
Synonyms Caspase-1, Il1bc, interleukin 1 beta-converting enzyme, ICE
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02248
Quality Score
Chromosome 9
Chromosomal Location 5298517-5307281 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 5299452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 60 (H60Q)
Ref Sequence ENSEMBL: ENSMUSP00000027015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027015]
AlphaFold P29452
Predicted Effect probably benign
Transcript: ENSMUST00000027015
AA Change: H60Q

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000027015
Gene: ENSMUSG00000025888
AA Change: H60Q

CARD 4 89 4.91e-19 SMART
CASc 151 400 1.82e-136 SMART
Coding Region Coverage
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ajap1 A T 4: 153,516,568 (GRCm39) S258T possibly damaging Het
Ap1g1 A G 8: 110,590,065 (GRCm39) probably benign Het
B4galnt4 T C 7: 140,647,721 (GRCm39) probably benign Het
Bltp1 T C 3: 37,023,439 (GRCm39) probably null Het
Btnl9 T C 11: 49,071,625 (GRCm39) D66G probably benign Het
Clec4n T G 6: 123,207,527 (GRCm39) S30R probably damaging Het
Col22a1 A G 15: 71,671,297 (GRCm39) L1021P unknown Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Fbxw7 A G 3: 84,810,940 (GRCm39) N22D possibly damaging Het
Frrs1l T A 4: 56,968,272 (GRCm39) N167Y probably damaging Het
Fsip2 T A 2: 82,813,116 (GRCm39) I3145K possibly damaging Het
Gcc1 G T 6: 28,418,513 (GRCm39) R607S probably damaging Het
Gm14443 A T 2: 175,012,107 (GRCm39) I113K probably benign Het
Ica1 T C 6: 8,758,387 (GRCm39) probably benign Het
Igkv4-69 T A 6: 69,261,305 (GRCm39) probably benign Het
Igkv9-120 G T 6: 68,027,221 (GRCm39) C45F probably damaging Het
Lrp2 T C 2: 69,313,152 (GRCm39) Y2483C probably damaging Het
Lrpprc A G 17: 85,078,895 (GRCm39) L273S probably damaging Het
Myh9 A T 15: 77,670,814 (GRCm39) L476Q probably damaging Het
Nab2 T C 10: 127,499,109 (GRCm39) I390V probably benign Het
Notch4 A T 17: 34,806,172 (GRCm39) D1756V probably damaging Het
Nup54 T C 5: 92,576,188 (GRCm39) probably null Het
Or14c41 T A 7: 86,235,312 (GRCm39) Y276* probably null Het
Or8k38 A T 2: 86,488,061 (GRCm39) V247E probably damaging Het
Reln T C 5: 22,115,990 (GRCm39) Y3006C probably damaging Het
Rpe65 T A 3: 159,330,342 (GRCm39) L503Q probably damaging Het
Serinc5 A G 13: 92,842,648 (GRCm39) D366G probably damaging Het
Slain1 A G 14: 103,923,213 (GRCm39) D102G probably damaging Het
Smo A T 6: 29,757,291 (GRCm39) I469F possibly damaging Het
Tomm70a T A 16: 56,958,465 (GRCm39) S273T probably benign Het
Trak1 G T 9: 121,275,860 (GRCm39) V281L probably damaging Het
Trib2 T C 12: 15,843,967 (GRCm39) N225S possibly damaging Het
Vmn2r23 A T 6: 123,718,703 (GRCm39) K685N probably damaging Het
Zcchc4 T A 5: 52,953,418 (GRCm39) H142Q probably damaging Het
Zfp521 T C 18: 13,977,303 (GRCm39) I1037V possibly damaging Het
Other mutations in Casp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Casp1 APN 9 5,299,872 (GRCm39) splice site probably benign
IGL00667:Casp1 APN 9 5,303,756 (GRCm39) missense probably benign 0.40
IGL01998:Casp1 APN 9 5,303,043 (GRCm39) missense probably damaging 1.00
IGL02469:Casp1 APN 9 5,303,105 (GRCm39) missense probably benign 0.19
P0027:Casp1 UTSW 9 5,299,851 (GRCm39) missense probably benign 0.00
PIT4305001:Casp1 UTSW 9 5,306,135 (GRCm39) missense probably benign 0.03
R0724:Casp1 UTSW 9 5,303,077 (GRCm39) missense probably benign
R1169:Casp1 UTSW 9 5,299,454 (GRCm39) missense possibly damaging 0.93
R1876:Casp1 UTSW 9 5,303,663 (GRCm39) missense probably benign 0.01
R2316:Casp1 UTSW 9 5,306,213 (GRCm39) missense possibly damaging 0.92
R2877:Casp1 UTSW 9 5,303,110 (GRCm39) missense probably damaging 1.00
R2885:Casp1 UTSW 9 5,299,851 (GRCm39) missense probably benign 0.00
R4043:Casp1 UTSW 9 5,302,444 (GRCm39) missense probably benign
R4367:Casp1 UTSW 9 5,299,333 (GRCm39) missense probably benign 0.41
R4656:Casp1 UTSW 9 5,304,324 (GRCm39) missense probably damaging 1.00
R4705:Casp1 UTSW 9 5,306,204 (GRCm39) missense probably damaging 1.00
R4790:Casp1 UTSW 9 5,303,020 (GRCm39) missense probably benign 0.01
R4858:Casp1 UTSW 9 5,306,742 (GRCm39) missense probably damaging 1.00
R5607:Casp1 UTSW 9 5,303,143 (GRCm39) missense probably damaging 1.00
R5784:Casp1 UTSW 9 5,299,337 (GRCm39) missense probably damaging 0.98
R6578:Casp1 UTSW 9 5,304,280 (GRCm39) missense probably benign 0.04
R7111:Casp1 UTSW 9 5,299,816 (GRCm39) missense probably benign 0.01
R7215:Casp1 UTSW 9 5,298,523 (GRCm39) splice site probably null
R7590:Casp1 UTSW 9 5,306,710 (GRCm39) missense probably damaging 1.00
R8002:Casp1 UTSW 9 5,303,164 (GRCm39) missense possibly damaging 0.94
R8510:Casp1 UTSW 9 5,303,026 (GRCm39) missense probably damaging 1.00
R8902:Casp1 UTSW 9 5,299,333 (GRCm39) missense probably benign 0.41
R9234:Casp1 UTSW 9 5,303,128 (GRCm39) missense probably benign 0.04
R9471:Casp1 UTSW 9 5,304,187 (GRCm39) missense probably benign 0.13
R9747:Casp1 UTSW 9 5,299,322 (GRCm39) missense probably damaging 1.00
T0722:Casp1 UTSW 9 5,299,851 (GRCm39) missense probably benign 0.00
X0003:Casp1 UTSW 9 5,299,851 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16