Incidental Mutation 'IGL02688:Casp4'
ID 303637
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Casp4
Ensembl Gene ENSMUSG00000033538
Gene Name caspase 4, apoptosis-related cysteine peptidase
Synonyms Casp11, Caspase-11, ich-3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02688
Quality Score
Status
Chromosome 9
Chromosomal Location 5308828-5336783 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5322844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 40 (E40G)
Ref Sequence ENSEMBL: ENSMUSP00000124402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027012] [ENSMUST00000160064] [ENSMUST00000162846]
AlphaFold P70343
Predicted Effect probably benign
Transcript: ENSMUST00000027012
AA Change: E96G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000027012
Gene: ENSMUSG00000033538
AA Change: E96G

DomainStartEndE-ValueType
CARD 1 92 7.63e-7 SMART
CASc 121 371 5.72e-134 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152651
Predicted Effect probably benign
Transcript: ENSMUST00000159461
SMART Domains Protein: ENSMUSP00000124535
Gene: ENSMUSG00000033538

DomainStartEndE-ValueType
SCOP:d1dgna_ 2 32 7e-7 SMART
Blast:CARD 2 40 9e-22 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000160064
SMART Domains Protein: ENSMUSP00000124249
Gene: ENSMUSG00000033538

DomainStartEndE-ValueType
CARD 1 89 4.7e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160521
Predicted Effect possibly damaging
Transcript: ENSMUST00000162846
AA Change: E40G

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124402
Gene: ENSMUSG00000033538
AA Change: E40G

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163086
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the cysteine proteases that plays important roles in apoptosis, cell migration and the inflammatory response. The encoded protein mediates production of pro-inflammatory cytokines by macrophages upon bacterial infection. Mice lacking the encoded protein are resistant to endotoxic shock induced by lipopolysaccharide. A 5-bp deletion encompassing a splice acceptor junction resulting in alternate splicing and a shorter non-functional isoform in certain mouse strains has been described. Although its official nomenclature is "caspase 4, apoptosis-related cysteine peptidase", this gene and its encoded protein have historically been called caspase 11. This gene is present in a cluster of three caspase genes on chromosome 9. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous mutation of this gene results in decreased levels of serum IL-1alpha and IL-1beta. Mutant animals are resistant to septic shock after injection with LPS. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 C A 8: 41,279,357 (GRCm39) R583S probably benign Het
Bcl9l C T 9: 44,416,560 (GRCm39) T211I possibly damaging Het
C6 A G 15: 4,827,802 (GRCm39) I724V probably benign Het
Cacna2d4 T A 6: 119,247,710 (GRCm39) probably null Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Dnah7a A C 1: 53,483,631 (GRCm39) M3382R possibly damaging Het
Dst T C 1: 34,235,033 (GRCm39) L3526P probably damaging Het
Eya4 A G 10: 23,035,008 (GRCm39) S116P probably benign Het
Gabra4 T A 5: 71,729,510 (GRCm39) E423D probably benign Het
Ighv1-67 T G 12: 115,567,643 (GRCm39) T90P probably damaging Het
Kcnh8 A G 17: 53,266,471 (GRCm39) T828A probably benign Het
Nr5a2 A G 1: 136,868,145 (GRCm39) probably null Het
Nup214 C T 2: 31,921,287 (GRCm39) P1237S probably benign Het
Phactr3 A G 2: 177,920,792 (GRCm39) D215G probably damaging Het
Phf2 G T 13: 48,959,315 (GRCm39) P897Q unknown Het
Pla2r1 T C 2: 60,285,545 (GRCm39) R690G probably damaging Het
Ppargc1b A G 18: 61,445,314 (GRCm39) S181P possibly damaging Het
Sele A T 1: 163,877,699 (GRCm39) I165F probably damaging Het
Srcap T C 7: 127,141,625 (GRCm39) S1626P probably benign Het
Tenm2 A G 11: 35,959,285 (GRCm39) I1088T probably benign Het
Tnrc18 T C 5: 142,775,927 (GRCm39) S69G probably damaging Het
Trmt5 C A 12: 73,328,232 (GRCm39) E324* probably null Het
Ttll3 T C 6: 113,376,700 (GRCm39) I360T probably benign Het
Zfp277 A G 12: 40,378,687 (GRCm39) V390A possibly damaging Het
Other mutations in Casp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB007:Casp4 UTSW 9 5,321,318 (GRCm39) missense probably damaging 0.99
BB017:Casp4 UTSW 9 5,321,318 (GRCm39) missense probably damaging 0.99
R1302:Casp4 UTSW 9 5,328,518 (GRCm39) nonsense probably null
R1562:Casp4 UTSW 9 5,324,733 (GRCm39) missense possibly damaging 0.69
R1716:Casp4 UTSW 9 5,308,919 (GRCm39) splice site probably null
R2031:Casp4 UTSW 9 5,321,401 (GRCm39) missense probably benign 0.00
R2655:Casp4 UTSW 9 5,322,894 (GRCm39) missense possibly damaging 0.93
R4207:Casp4 UTSW 9 5,328,451 (GRCm39) missense probably benign 0.15
R4432:Casp4 UTSW 9 5,323,653 (GRCm39) missense probably damaging 1.00
R4911:Casp4 UTSW 9 5,328,580 (GRCm39) unclassified probably benign
R5269:Casp4 UTSW 9 5,321,521 (GRCm39) splice site probably benign
R5399:Casp4 UTSW 9 5,324,928 (GRCm39) nonsense probably null
R5800:Casp4 UTSW 9 5,308,915 (GRCm39) critical splice donor site probably null
R5895:Casp4 UTSW 9 5,328,573 (GRCm39) unclassified probably benign
R6582:Casp4 UTSW 9 5,324,884 (GRCm39) missense probably benign 0.01
R7253:Casp4 UTSW 9 5,324,868 (GRCm39) missense probably benign 0.37
R7426:Casp4 UTSW 9 5,321,345 (GRCm39) missense possibly damaging 0.87
R7930:Casp4 UTSW 9 5,321,318 (GRCm39) missense probably damaging 0.99
R9550:Casp4 UTSW 9 5,328,465 (GRCm39) missense probably damaging 1.00
R9562:Casp4 UTSW 9 5,324,832 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16