Incidental Mutation 'IGL02793:Il1b'
ID359832
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 #IGL02793
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,291,949 I397V possibly damaging Het
Bco2 A T 9: 50,544,534 V173E probably damaging Het
Bdnf T C 2: 109,723,851 V150A probably damaging Het
Cdh15 T A 8: 122,860,982 V215E probably damaging Het
Col6a2 A T 10: 76,596,310 I1003N possibly damaging Het
Daam2 A C 17: 49,464,028 I887S probably damaging Het
Dnajb13 C T 7: 100,507,441 D143N probably damaging Het
Fabp3-ps1 T A 10: 86,732,079 probably benign Het
Gid4 G A 11: 60,432,430 R116Q probably benign Het
Hectd2 A G 19: 36,587,421 E34G probably damaging Het
Hyal6 A T 6: 24,734,379 K104* probably null Het
Kdm3b A G 18: 34,829,019 M1499V probably damaging Het
Kntc1 C A 5: 123,778,277 probably null Het
Lmbr1 A G 5: 29,292,188 S72P probably damaging Het
Lrrc2 T C 9: 110,979,627 probably null Het
Map2k5 T C 9: 63,257,039 I328V probably benign Het
Mphosph9 T A 5: 124,283,737 probably null Het
Mpp4 C T 1: 59,136,834 probably null Het
Ndrg3 A G 2: 156,950,032 probably null Het
Ndufa10 A C 1: 92,469,917 Y136D probably damaging Het
Olfr1245 T C 2: 89,575,552 Y58C probably damaging Het
Olfr1331 A T 4: 118,869,597 D271V probably damaging Het
Olfr1535 T A 13: 21,556,002 S7C probably damaging Het
Olfr954 A G 9: 39,461,506 E22G probably benign Het
Rab18 T C 18: 6,788,474 probably benign Het
Rad1 T C 15: 10,493,279 I264T probably benign Het
Rhbdf1 A G 11: 32,213,293 V393A possibly damaging Het
Rrp12 A G 19: 41,871,566 L1025P probably damaging Het
Rtca A G 3: 116,493,077 F302S probably damaging Het
Slc9b1 T A 3: 135,374,406 probably benign Het
Sspo A T 6: 48,487,894 probably benign Het
Ssrp1 T A 2: 85,040,920 I257N probably damaging Het
Sval2 A C 6: 41,861,861 Y11S 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
Tlr4 A C 4: 66,839,444 H158P probably damaging Het
Vmn2r42 T C 7: 8,194,853 T256A probably benign Het
Xdh T C 17: 73,900,581 E927G probably damaging Het
Yap1 T C 9: 7,973,906 N178S 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
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 On2015-12-18