Incidental Mutation 'R4207:Casp4'
ID 318972
Institutional Source Beutler Lab
Gene Symbol Casp4
Ensembl Gene ENSMUSG00000033538
Gene Name caspase 4, apoptosis-related cysteine peptidase
Synonyms Casp11, Caspase-11, ich-3
MMRRC Submission 041036-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4207 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 5308828-5336783 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5328451 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 311 (D311G)
Ref Sequence ENSEMBL: ENSMUSP00000027012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027012] [ENSMUST00000160064] [ENSMUST00000162846]
AlphaFold P70343
Predicted Effect probably benign
Transcript: ENSMUST00000027012
AA Change: D311G

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000027012
Gene: ENSMUSG00000033538
AA Change: D311G

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

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

CARD 1 89 4.7e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162846
SMART Domains Protein: ENSMUSP00000124402
Gene: ENSMUSG00000033538

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 0.2788 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 100% (60/60)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G A 11: 109,981,725 Q17* probably null Het
Acap2 T A 16: 31,119,427 N293I probably damaging Het
Adgrg4 G A X: 56,918,749 V1893I possibly damaging Het
Aff1 T C 5: 103,818,988 probably null Het
Ap1b1 A G 11: 5,031,637 D515G probably damaging Het
Brk1 T C 6: 113,615,844 Y63H possibly damaging Het
Cand1 T C 10: 119,211,845 D580G probably damaging Het
Crygs C T 16: 22,805,551 G102D possibly damaging Het
Ctnnd2 G T 15: 30,972,827 V1033F probably damaging Het
Dhx29 G T 13: 112,927,949 A53S probably benign Het
Dis3 T G 14: 99,095,316 I227L probably benign Het
Efhc2 T C X: 17,230,550 N186S possibly damaging Het
Efl1 T C 7: 82,750,816 V592A probably damaging Het
Elovl7 A T 13: 108,282,506 Q224L possibly damaging Het
Fcgr3 T A 1: 171,054,075 K160N probably benign Het
Flg A G 3: 93,279,862 Y207C probably benign Het
Fmn2 A G 1: 174,581,955 T585A unknown Het
Gm7135 T C 1: 97,469,895 noncoding transcript Het
Gm8104 G T 14: 43,101,634 D94Y probably damaging Het
Hjurp G C 1: 88,277,215 probably benign Het
Ino80b G C 6: 83,122,333 P178R probably damaging Het
Kbtbd4 T C 2: 90,909,755 F495L probably damaging Het
Lingo2 T C 4: 35,709,810 I57V probably benign Het
Me2 T C 18: 73,791,085 K352R probably benign Het
Mthfsd A G 8: 121,105,626 V133A probably damaging Het
Nav2 T A 7: 49,572,298 probably null Het
Nav2 T A 7: 49,597,231 I2168N probably damaging Het
Nlrp10 T A 7: 108,924,341 D644V possibly damaging Het
Olfr1472 T C 19: 13,454,471 I15M probably benign Het
Olfr148 A G 9: 39,613,957 Y130C possibly damaging Het
Olfr15 T C 16: 3,839,570 L199P probably damaging Het
Oplah C T 15: 76,302,710 R635H probably damaging Het
Peli1 A G 11: 21,147,115 probably null Het
Pfkfb1 A T X: 150,622,188 D208V possibly damaging Het
Pld5 T G 1: 175,993,875 T242P probably damaging Het
Rbm5 A G 9: 107,750,483 S420P probably benign Het
Rhag A T 17: 40,831,653 I250F probably damaging Het
Rnase4 A G 14: 51,105,005 K62R probably benign Het
Scaf4 C T 16: 90,260,215 V83I unknown Het
Slc24a2 A G 4: 87,227,205 V204A probably damaging Het
Slc5a8 G T 10: 88,911,413 L409F probably damaging Het
Spns3 A T 11: 72,538,361 V199E probably damaging Het
Sspo A G 6: 48,478,293 T3030A probably benign Het
Sstr2 A C 11: 113,624,656 T134P probably damaging Het
Stk39 G T 2: 68,220,920 T527K probably benign Het
Sult2a1 T A 7: 13,801,547 T194S probably benign Het
Tamm41 AGGG AGG 6: 115,012,359 probably benign Het
Trav7-3 A G 14: 53,443,746 T82A probably benign Het
Umodl1 G A 17: 30,959,367 V106I probably damaging Het
Vmn2r85 A C 10: 130,418,705 C703W probably damaging Het
Vmn2r92 G A 17: 18,184,261 V556M possibly damaging Het
Zfp292 T C 4: 34,806,079 I2322V probably benign Het
Zfp644 T C 5: 106,618,276 E93G probably damaging Het
Zfp81 C T 17: 33,334,916 C308Y probably damaging Het
Other mutations in Casp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02688:Casp4 APN 9 5322844 missense possibly damaging 0.76
BB007:Casp4 UTSW 9 5321318 missense probably damaging 0.99
BB017:Casp4 UTSW 9 5321318 missense probably damaging 0.99
R1302:Casp4 UTSW 9 5328518 nonsense probably null
R1562:Casp4 UTSW 9 5324733 missense possibly damaging 0.69
R1716:Casp4 UTSW 9 5308919 splice site probably null
R2031:Casp4 UTSW 9 5321401 missense probably benign 0.00
R2655:Casp4 UTSW 9 5322894 missense possibly damaging 0.93
R4432:Casp4 UTSW 9 5323653 missense probably damaging 1.00
R4911:Casp4 UTSW 9 5328580 unclassified probably benign
R5269:Casp4 UTSW 9 5321521 splice site probably benign
R5399:Casp4 UTSW 9 5324928 nonsense probably null
R5800:Casp4 UTSW 9 5308915 critical splice donor site probably null
R5895:Casp4 UTSW 9 5328573 unclassified probably benign
R6582:Casp4 UTSW 9 5324884 missense probably benign 0.01
R7253:Casp4 UTSW 9 5324868 missense probably benign 0.37
R7426:Casp4 UTSW 9 5321345 missense possibly damaging 0.87
R7930:Casp4 UTSW 9 5321318 missense probably damaging 0.99
R9550:Casp4 UTSW 9 5328465 missense probably damaging 1.00
R9562:Casp4 UTSW 9 5324832 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-06-10