Incidental Mutation 'R5895:Casp4'
ID 457452
Institutional Source Beutler Lab
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 # R5895 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 5308828-5336783 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 5328573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027012] [ENSMUST00000160064] [ENSMUST00000162846]
AlphaFold P70343
Predicted Effect probably benign
Transcript: ENSMUST00000027012
SMART Domains Protein: ENSMUSP00000027012
Gene: ENSMUSG00000033538

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 probably benign
Transcript: ENSMUST00000162846
SMART Domains Protein: ENSMUSP00000124402
Gene: ENSMUSG00000033538

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.7%
Validation Efficiency 98% (64/65)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,752,216 (GRCm39) G426S probably damaging Het
Ccdc40 T A 11: 119,144,229 (GRCm39) F988Y probably damaging Het
Ccdc9b T C 2: 118,590,098 (GRCm39) T249A probably benign Het
Chd5 T A 4: 152,464,389 (GRCm39) V1516E probably benign Het
Chrnd T A 1: 87,123,389 (GRCm39) probably null Het
Col5a3 C A 9: 20,683,738 (GRCm39) G1506V unknown Het
Csgalnact2 A T 6: 118,106,215 (GRCm39) C34* probably null Het
Ddx23 T C 15: 98,549,832 (GRCm39) K195E probably benign Het
Dhps T G 8: 85,800,880 (GRCm39) S240A probably benign Het
Dnah5 T A 15: 28,234,599 (GRCm39) probably null Het
Dock10 T C 1: 80,514,676 (GRCm39) T1414A probably benign Het
Dock4 A G 12: 40,805,812 (GRCm39) D928G probably damaging Het
Dolpp1 T C 2: 30,285,658 (GRCm39) probably benign Het
Dse T A 10: 34,028,601 (GRCm39) I830F probably damaging Het
Elmod1 C T 9: 53,843,091 (GRCm39) R29Q probably damaging Het
Ephx4 T A 5: 107,577,518 (GRCm39) probably null Het
Evi5 A T 5: 107,968,302 (GRCm39) M215K probably damaging Het
Fbxl4 T C 4: 22,390,678 (GRCm39) L287P probably damaging Het
Gbp9 G A 5: 105,230,724 (GRCm39) S400L probably damaging Het
Gm6291 T C 18: 6,371,365 (GRCm39) noncoding transcript Het
Gmcl1 A T 6: 86,688,596 (GRCm39) D301E probably benign Het
Gna14 C T 19: 16,580,692 (GRCm39) R177C possibly damaging Het
Golph3 C T 15: 12,339,756 (GRCm39) R90C probably damaging Het
Gpr142 T A 11: 114,689,785 (GRCm39) C12* probably null Het
Hat1 T A 2: 71,239,357 (GRCm39) N43K possibly damaging Het
Hivep1 A T 13: 42,310,694 (GRCm39) E978V possibly damaging Het
Hormad1 G A 3: 95,467,044 (GRCm39) probably null Het
Kalrn C T 16: 33,795,805 (GRCm39) probably benign Het
Mars1 T C 10: 127,132,418 (GRCm39) T860A probably benign Het
Mdn1 A T 4: 32,695,400 (GRCm39) L1146F probably damaging Het
Met A G 6: 17,531,581 (GRCm39) T620A probably benign Het
Mppe1 T C 18: 67,358,834 (GRCm39) E378G probably benign Het
Mybpc3 T A 2: 90,955,010 (GRCm39) V481D probably damaging Het
Myh14 A T 7: 44,256,133 (GRCm39) L1924Q probably damaging Het
Mylip G T 13: 45,562,178 (GRCm39) E327* probably null Het
Naip1 C T 13: 100,559,636 (GRCm39) G1123R probably benign Het
Naip6 A G 13: 100,452,500 (GRCm39) V187A possibly damaging Het
Ncam1 T A 9: 49,418,343 (GRCm39) T986S probably benign Het
Or13p4 T C 4: 118,547,314 (GRCm39) I112V probably damaging Het
Or4x13 T C 2: 90,231,800 (GRCm39) I265T probably benign Het
Phactr2 C T 10: 13,121,261 (GRCm39) G480S probably damaging Het
Por A G 5: 135,744,838 (GRCm39) I34V probably benign Het
Ppp2r5b C T 19: 6,284,764 (GRCm39) R33H probably damaging Het
Prkdc C A 16: 15,570,693 (GRCm39) Y2325* probably null Het
Prx A G 7: 27,214,709 (GRCm39) E73G probably damaging Het
Rbms2 C A 10: 127,981,556 (GRCm39) A126S possibly damaging Het
Rhoq C T 17: 87,302,117 (GRCm39) A111V probably damaging Het
Rpl14 T A 9: 120,403,240 (GRCm39) probably benign Het
Serbp1 A G 6: 67,249,870 (GRCm39) *75W probably null Het
Sptbn1 C A 11: 30,073,978 (GRCm39) V1351F probably damaging Het
Supt16 A G 14: 52,401,979 (GRCm39) V897A probably benign Het
Tfdp1 T A 8: 13,407,038 (GRCm39) probably null Het
Ttn T A 2: 76,780,487 (GRCm39) Y1088F probably damaging Het
Vmn2r105 G T 17: 20,448,929 (GRCm39) Q83K probably benign Het
Wdr76 A T 2: 121,359,323 (GRCm39) S221C probably damaging Het
Zfhx2 G T 14: 55,303,348 (GRCm39) F1545L probably benign Het
Zfp318 A G 17: 46,709,959 (GRCm39) I561V probably damaging Het
Other mutations in Casp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02688:Casp4 APN 9 5,322,844 (GRCm39) missense possibly damaging 0.76
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
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
Predicted Primers PCR Primer
(F):5'- TTCACTGCATGTTGCCAGG -3'
(R):5'- AGCGACCAGGATTTAGTCTG -3'

Sequencing Primer
(F):5'- ATGTTGCCAGGCTCTGC -3'
(R):5'- GCGACCAGGATTTAGTCTGATAATTC -3'
Posted On 2017-02-15