Incidental Mutation 'IGL02248:Casp1'
ID286286
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 #IGL02248
Quality Score
Status
Chromosome9
Chromosomal Location5298517-5307265 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 5299452 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 60 (H60Q)
Ref Sequence ENSEMBL: ENSMUSP00000027015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027015]
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

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,969,290 probably null Het
Ajap1 A T 4: 153,432,111 S258T possibly damaging Het
Ap1g1 A G 8: 109,863,433 probably benign Het
B4galnt4 T C 7: 141,067,808 probably benign Het
Btnl9 T C 11: 49,180,798 D66G probably benign Het
Clec4n T G 6: 123,230,568 S30R probably damaging Het
Col22a1 A G 15: 71,799,448 L1021P unknown Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Fbxw7 A G 3: 84,903,633 N22D possibly damaging Het
Frrs1l T A 4: 56,968,272 N167Y probably damaging Het
Fsip2 T A 2: 82,982,772 I3145K possibly damaging Het
Gcc1 G T 6: 28,418,514 R607S probably damaging Het
Gm14443 A T 2: 175,170,314 I113K probably benign Het
Ica1 T C 6: 8,758,387 probably benign Het
Igkv4-69 T A 6: 69,284,321 probably benign Het
Igkv9-120 G T 6: 68,050,237 C45F probably damaging Het
Lrp2 T C 2: 69,482,808 Y2483C probably damaging Het
Lrpprc A G 17: 84,771,467 L273S probably damaging Het
Myh9 A T 15: 77,786,614 L476Q probably damaging Het
Nab2 T C 10: 127,663,240 I390V probably benign Het
Notch4 A T 17: 34,587,198 D1756V probably damaging Het
Nup54 T C 5: 92,428,329 probably null Het
Olfr1085 A T 2: 86,657,717 V247E probably damaging Het
Olfr295 T A 7: 86,586,104 Y276* probably null Het
Reln T C 5: 21,910,992 Y3006C probably damaging Het
Rpe65 T A 3: 159,624,705 L503Q probably damaging Het
Serinc5 A G 13: 92,706,140 D366G probably damaging Het
Slain1 A G 14: 103,685,777 D102G probably damaging Het
Smo A T 6: 29,757,292 I469F possibly damaging Het
Tomm70a T A 16: 57,138,102 S273T probably benign Het
Trak1 G T 9: 121,446,794 V281L probably damaging Het
Trib2 T C 12: 15,793,966 N225S possibly damaging Het
Vmn2r23 A T 6: 123,741,744 K685N probably damaging Het
Zcchc4 T A 5: 52,796,076 H142Q probably damaging Het
Zfp521 T C 18: 13,844,246 I1037V possibly damaging 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
IGL02469:Casp1 APN 9 5303105 missense probably benign 0.19
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
R8002:Casp1 UTSW 9 5303164 missense possibly damaging 0.94
T0722:Casp1 UTSW 9 5299851 missense probably benign 0.00
X0003:Casp1 UTSW 9 5299851 missense probably benign 0.00
Posted On2015-04-16