Incidental Mutation 'IGL02875:Il1b'
ID406188
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: 0.109) question?
Stock #IGL02875
Quality Score
Status
Chromosome2
Chromosomal Location129364570-129371139 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129367251 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 153 (I153T)
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
AA Change: I153T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000028881
Gene: ENSMUSG00000027398
AA Change: I153T

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,291,949 I397V possibly damaging Het
Asph A G 4: 9,595,380 S281P probably damaging Het
Bdnf T C 2: 109,723,851 V150A probably damaging Het
Birc6 T C 17: 74,589,718 V1053A probably damaging Het
Btg4 T A 9: 51,119,146 F182Y probably benign Het
Casc3 T G 11: 98,821,552 V139G probably damaging Het
Ccno C A 13: 112,988,052 P52Q possibly damaging Het
Cdk1 T G 10: 69,342,536 probably benign Het
Daam2 A C 17: 49,464,028 I887S probably damaging Het
Dmrta1 A G 4: 89,691,748 D315G possibly damaging Het
Dnah6 T C 6: 73,138,715 I1515V probably damaging Het
Dock7 A T 4: 98,975,994 I1241K probably benign Het
Fam180a T C 6: 35,313,682 D122G probably damaging Het
Gm11992 C T 11: 9,052,887 probably benign Het
Kntc1 C A 5: 123,778,277 probably null Het
Krt77 T C 15: 101,869,149 D157G probably damaging Het
Lmbr1 A G 5: 29,292,188 S72P probably damaging Het
Mphosph9 T A 5: 124,283,737 probably null Het
Mpp4 C T 1: 59,136,834 probably null Het
Ncbp2 T A 16: 31,954,153 L36Q probably damaging Het
Olfr1245 T C 2: 89,575,552 Y58C probably damaging Het
Olfr147 A G 9: 38,403,176 M101V probably damaging Het
Olfr1535 T A 13: 21,556,002 S7C probably damaging Het
Oscp1 A G 4: 126,076,808 D130G probably damaging Het
Pls1 A T 9: 95,754,351 M615K possibly damaging Het
Prep C A 10: 45,158,433 H680Q probably damaging Het
Rad1 T C 15: 10,493,279 I264T probably benign Het
Rhbdf1 A G 11: 32,213,293 V393A possibly damaging Het
Skint3 A T 4: 112,255,882 I230L possibly damaging Het
Slc9b1 T A 3: 135,374,406 probably benign Het
Slfn3 T C 11: 83,213,427 Y375H probably damaging Het
Ssrp1 T A 2: 85,040,920 I257N probably damaging Het
Svep1 A G 4: 58,082,821 probably benign Het
Tcl1b2 T C 12: 105,154,099 *118Q probably null Het
Thsd7b A G 1: 129,951,393 Y989C probably damaging Het
Trim58 C T 11: 58,640,466 probably benign Het
Vmn2r42 T C 7: 8,194,853 T256A probably benign Het
Other mutations in Il1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Il1b APN 2 129367333 missense possibly damaging 0.82
IGL01488:Il1b APN 2 129367234 splice site probably benign
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
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 On2016-08-02