Incidental Mutation 'IGL02469:Casp1'
ID294660
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Casp1
Ensembl Gene ENSMUSG00000025888
Gene Namecaspase 1
SynonymsICE, Il1bc, Caspase-1, interleukin 1 beta-converting enzyme
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02469
Quality Score
Status
Chromosome9
Chromosomal Location5298517-5307265 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 5303105 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 186 (R186S)
Ref Sequence ENSEMBL: ENSMUSP00000027015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027015]
Predicted Effect probably benign
Transcript: ENSMUST00000027015
AA Change: R186S

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000027015
Gene: ENSMUSG00000025888
AA Change: R186S

DomainStartEndE-ValueType
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,668,115 Q975L probably damaging Het
Acad10 T C 5: 121,645,459 Y301C probably damaging Het
Akr7a5 T A 4: 139,314,181 S134T probably damaging Het
Aldh4a1 C T 4: 139,648,161 T527I probably damaging Het
Atf2 A G 2: 73,846,332 V146A probably damaging Het
C2cd6 A T 1: 58,997,481 probably benign Het
Caml T C 13: 55,628,577 S210P probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdhr1 T A 14: 37,085,600 Q361L possibly damaging Het
Chrna3 T A 9: 55,016,006 T173S probably benign Het
Commd6 A G 14: 101,637,027 V47A probably damaging Het
Dmrtc2 T C 7: 24,872,713 probably benign Het
Dock3 T C 9: 106,986,016 D721G probably damaging Het
Dpp10 T C 1: 123,411,803 S332G probably benign Het
Dst A G 1: 34,188,828 E1834G probably damaging Het
Espl1 T A 15: 102,314,025 L1034Q probably damaging Het
Gtf2ird2 C T 5: 134,191,249 T22M probably damaging Het
Hyal2 T C 9: 107,572,212 L389P probably damaging Het
Lipa T C 19: 34,494,035 D380G probably damaging Het
March5 T G 19: 37,217,275 W111G probably damaging Het
Olfr1097 T C 2: 86,891,155 T7A possibly damaging Het
Pfkfb2 A T 1: 130,700,037 I391N probably damaging Het
Sec31a T C 5: 100,385,255 S544G probably benign Het
Slc26a9 A G 1: 131,762,936 K530E probably damaging Het
Spaca3 G A 11: 80,864,085 probably null Het
Syne3 T C 12: 104,954,306 S544G probably benign Het
Tctn3 T C 19: 40,597,523 E526G probably benign Het
Tll1 A T 8: 64,070,280 I466K probably benign Het
Ttbk1 A G 17: 46,470,630 V399A possibly damaging Het
Vmn1r47 T C 6: 90,022,453 L189P probably damaging Het
Vmn2r100 T A 17: 19,531,285 L530* probably null Het
Yipf3 T C 17: 46,250,458 probably null Het
Other mutations in Casp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Casp1 APN 9 5299872 splice site probably benign
IGL00667:Casp1 APN 9 5303756 missense probably benign 0.40
IGL01998:Casp1 APN 9 5303043 missense probably damaging 1.00
IGL02248:Casp1 APN 9 5299452 missense probably benign 0.01
P0027:Casp1 UTSW 9 5299851 missense probably benign 0.00
PIT4305001:Casp1 UTSW 9 5306135 missense probably benign 0.03
R0724:Casp1 UTSW 9 5303077 missense probably benign
R1169:Casp1 UTSW 9 5299454 missense possibly damaging 0.93
R1876:Casp1 UTSW 9 5303663 missense probably benign 0.01
R2316:Casp1 UTSW 9 5306213 missense possibly damaging 0.92
R2877:Casp1 UTSW 9 5303110 missense probably damaging 1.00
R2885:Casp1 UTSW 9 5299851 missense probably benign 0.00
R4043:Casp1 UTSW 9 5302444 missense probably benign
R4367:Casp1 UTSW 9 5299333 missense probably benign 0.41
R4656:Casp1 UTSW 9 5304324 missense probably damaging 1.00
R4705:Casp1 UTSW 9 5306204 missense probably damaging 1.00
R4790:Casp1 UTSW 9 5303020 missense probably benign 0.01
R4858:Casp1 UTSW 9 5306742 missense probably damaging 1.00
R5607:Casp1 UTSW 9 5303143 missense probably damaging 1.00
R5784:Casp1 UTSW 9 5299337 missense probably damaging 0.98
R6578:Casp1 UTSW 9 5304280 missense probably benign 0.04
R7111:Casp1 UTSW 9 5299816 missense probably benign 0.01
R7215:Casp1 UTSW 9 5298523 utr 5 prime probably null
R7590:Casp1 UTSW 9 5306710 missense probably damaging 1.00
T0722:Casp1 UTSW 9 5299851 missense probably benign 0.00
X0003:Casp1 UTSW 9 5299851 missense probably benign 0.00
Posted On2015-04-16