Incidental Mutation 'IGL01488:Il1b'
ID88800
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il1b
Ensembl Gene ENSMUSG00000027398
Gene Nameinterleukin 1 beta
SynonymsIL-1B, IL-1beta
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #IGL01488
Quality Score
Status
Chromosome2
Chromosomal Location129364570-129371139 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 129367234 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028881]
PDB Structure
THE STRUCTURE OF MURINE INTERLEUKIN-1 BETA AT 2.8 ANGSTROMS RESOLUTION [X-RAY DIFFRACTION]
A COMPARISON OF THE HIGH RESOLUTION STRUCTURES OF HUMAN AND MURINE INTERLEUKIN-1B [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000028881
SMART Domains Protein: ENSMUSP00000028881
Gene: ENSMUSG00000027398

DomainStartEndE-ValueType
Pfam:IL1_propep 1 102 3.3e-37 PFAM
IL1 120 265 1.74e-87 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118705
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141979
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143500
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155994
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156601
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active form by caspase 1. The encoded protein plays a role in thymocyte proliferation and is involved in the inflammatory response. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mutants show impaired contact hypersensitivity and reduced acute-phase inflammatory response. Lung tumors and metastases of B16 melanoma do not occur in null mutant mice, suggesting inability to support tumor invasiveness and angiogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc3 T C 11: 101,337,478 F424L possibly damaging Het
Cep170 A G 1: 176,756,375 S813P probably benign Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Dag1 C A 9: 108,208,303 E546D probably benign Het
Espl1 G A 15: 102,298,739 D213N probably benign Het
Fbxo47 A G 11: 97,868,678 probably benign Het
Gcnt7 A G 2: 172,454,289 V205A probably damaging Het
Klk10 T A 7: 43,784,976 I264N probably damaging Het
Lemd3 A T 10: 120,933,399 C646* probably null Het
Mcm3 A T 1: 20,813,056 V313D possibly damaging Het
Mylk3 C T 8: 85,352,027 V413I probably damaging Het
Olfr59 T C 11: 74,288,688 L14P probably damaging Het
Olfr731 A T 14: 50,238,138 M249K possibly damaging Het
Rfx2 T A 17: 56,805,398 Q45L probably damaging Het
Selplg T A 5: 113,819,636 E203V possibly damaging Het
Slc12a6 A G 2: 112,353,064 probably null Het
Slc4a3 A G 1: 75,548,876 S207G probably benign Het
Trhde C T 10: 114,446,158 V805I possibly damaging Het
Vav3 A C 3: 109,657,944 I159L probably damaging Het
Other mutations in Il1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Il1b APN 2 129367333 missense possibly damaging 0.82
IGL01810:Il1b APN 2 129369729 missense probably damaging 1.00
IGL02041:Il1b APN 2 129369742 missense possibly damaging 0.95
IGL02726:Il1b APN 2 129367322 missense probably damaging 1.00
IGL02793:Il1b APN 2 129367251 missense probably benign 0.00
IGL02875:Il1b APN 2 129367251 missense probably benign 0.00
IGL02884:Il1b APN 2 129365102 missense probably benign 0.02
R1065:Il1b UTSW 2 129368007 missense probably benign 0.00
R1656:Il1b UTSW 2 129366069 missense probably damaging 0.99
R1761:Il1b UTSW 2 129365181 missense probably damaging 1.00
R2166:Il1b UTSW 2 129365048 missense probably damaging 0.97
R2568:Il1b UTSW 2 129367322 missense probably damaging 1.00
R4807:Il1b UTSW 2 129370306 missense probably benign 0.00
R7684:Il1b UTSW 2 129367357 missense probably benign 0.03
Z1177:Il1b UTSW 2 129369745 missense probably benign 0.08
Posted On2013-11-18