Incidental Mutation 'IGL02793:Il1b'
ID 359832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il1b
Ensembl Gene ENSMUSG00000027398
Gene Name interleukin 1 beta
Synonyms IL-1B, IL-1beta
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # IGL02793
Quality Score
Status
Chromosome 2
Chromosomal Location 129206490-129213059 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129209171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 153 (I153T)
Ref Sequence ENSEMBL: ENSMUSP00000028881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028881]
AlphaFold P10749
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: 69,122,293 (GRCm39) I397V possibly damaging Het
Bco2 A T 9: 50,455,834 (GRCm39) V173E probably damaging Het
Bdnf T C 2: 109,554,196 (GRCm39) V150A probably damaging Het
Cdh15 T A 8: 123,587,721 (GRCm39) V215E probably damaging Het
Col6a2 A T 10: 76,432,144 (GRCm39) I1003N possibly damaging Het
Daam2 A C 17: 49,771,056 (GRCm39) I887S probably damaging Het
Dnajb13 C T 7: 100,156,648 (GRCm39) D143N probably damaging Het
Fabp3-ps1 T A 10: 86,567,943 (GRCm39) probably benign Het
Gid4 G A 11: 60,323,256 (GRCm39) R116Q probably benign Het
Hectd2 A G 19: 36,564,821 (GRCm39) E34G probably damaging Het
Hyal6 A T 6: 24,734,378 (GRCm39) K104* probably null Het
Kdm3b A G 18: 34,962,072 (GRCm39) M1499V probably damaging Het
Kntc1 C A 5: 123,916,340 (GRCm39) probably null Het
Lmbr1 A G 5: 29,497,186 (GRCm39) S72P probably damaging Het
Lrrc2 T C 9: 110,808,695 (GRCm39) probably null Het
Map2k5 T C 9: 63,164,321 (GRCm39) I328V probably benign Het
Mphosph9 T A 5: 124,421,800 (GRCm39) probably null Het
Mpp4 C T 1: 59,175,993 (GRCm39) probably null Het
Ndrg3 A G 2: 156,791,952 (GRCm39) probably null Het
Ndufa10 A C 1: 92,397,639 (GRCm39) Y136D probably damaging Het
Or10ak9 A T 4: 118,726,794 (GRCm39) D271V probably damaging Het
Or2b7 T A 13: 21,740,172 (GRCm39) S7C probably damaging Het
Or4a72 T C 2: 89,405,896 (GRCm39) Y58C probably damaging Het
Or8g34 A G 9: 39,372,802 (GRCm39) E22G probably benign Het
Rab18 T C 18: 6,788,474 (GRCm39) probably benign Het
Rad1 T C 15: 10,493,365 (GRCm39) I264T probably benign Het
Rhbdf1 A G 11: 32,163,293 (GRCm39) V393A possibly damaging Het
Rrp12 A G 19: 41,860,005 (GRCm39) L1025P probably damaging Het
Rtca A G 3: 116,286,726 (GRCm39) F302S probably damaging Het
Slc9b1 T A 3: 135,080,167 (GRCm39) probably benign Het
Sspo A T 6: 48,464,828 (GRCm39) probably benign Het
Ssrp1 T A 2: 84,871,264 (GRCm39) I257N probably damaging Het
Sval2 A C 6: 41,838,795 (GRCm39) Y11S probably benign Het
Tcl1b2 T C 12: 105,120,358 (GRCm39) *118Q probably null Het
Thsd7b A G 1: 129,879,130 (GRCm39) Y989C probably damaging Het
Tlr4 A C 4: 66,757,681 (GRCm39) H158P probably damaging Het
Vmn2r42 T C 7: 8,197,852 (GRCm39) T256A probably benign Het
Xdh T C 17: 74,207,576 (GRCm39) E927G probably damaging Het
Yap1 T C 9: 7,973,907 (GRCm39) N178S probably benign Het
Other mutations in Il1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Il1b APN 2 129,209,253 (GRCm39) missense possibly damaging 0.82
IGL01488:Il1b APN 2 129,209,154 (GRCm39) splice site probably benign
IGL01810:Il1b APN 2 129,211,649 (GRCm39) missense probably damaging 1.00
IGL02041:Il1b APN 2 129,211,662 (GRCm39) missense possibly damaging 0.95
IGL02726:Il1b APN 2 129,209,242 (GRCm39) missense probably damaging 1.00
IGL02875:Il1b APN 2 129,209,171 (GRCm39) missense probably benign 0.00
IGL02884:Il1b APN 2 129,207,022 (GRCm39) missense probably benign 0.02
R1065:Il1b UTSW 2 129,209,927 (GRCm39) missense probably benign 0.00
R1656:Il1b UTSW 2 129,207,989 (GRCm39) missense probably damaging 0.99
R1761:Il1b UTSW 2 129,207,101 (GRCm39) missense probably damaging 1.00
R2166:Il1b UTSW 2 129,206,968 (GRCm39) missense probably damaging 0.97
R2568:Il1b UTSW 2 129,209,242 (GRCm39) missense probably damaging 1.00
R4807:Il1b UTSW 2 129,212,226 (GRCm39) missense probably benign 0.00
R7684:Il1b UTSW 2 129,209,277 (GRCm39) missense probably benign 0.03
Z1177:Il1b UTSW 2 129,211,665 (GRCm39) missense probably benign 0.08
Posted On 2015-12-18