Incidental Mutation 'IGL01810:Il1b'
ID 155797
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 # IGL01810
Quality Score
Status
Chromosome 2
Chromosomal Location 129206490-129213059 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 129211649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 24 (E24K)
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 damaging
Transcript: ENSMUST00000028881
AA Change: E24K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028881
Gene: ENSMUSG00000027398
AA Change: E24K

DomainStartEndE-ValueType
Pfam:IL1_propep 1 102 3.3e-37 PFAM
IL1 120 265 1.74e-87 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141979
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143500
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155994
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168775
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 G T 11: 101,308,185 (GRCm39) Y10* probably null Het
Aass C A 6: 23,107,633 (GRCm39) Q383H probably damaging Het
Bag1 T C 4: 40,936,657 (GRCm39) D333G probably damaging Het
Cap2 A G 13: 46,793,425 (GRCm39) probably benign Het
Col27a1 G T 4: 63,143,868 (GRCm39) A519S probably benign Het
Cr2 A G 1: 194,841,903 (GRCm39) V726A possibly damaging Het
Csmd2 A G 4: 128,374,638 (GRCm39) probably benign Het
Dennd4c A G 4: 86,717,788 (GRCm39) D595G possibly damaging Het
Ercc2 G T 7: 19,127,374 (GRCm39) R340L probably damaging Het
Espl1 A G 15: 102,206,640 (GRCm39) T35A probably benign Het
Fndc3a A G 14: 72,803,581 (GRCm39) Y525H probably benign Het
Gm4922 T C 10: 18,659,795 (GRCm39) Q309R probably benign Het
Gm5263 T C 1: 146,296,292 (GRCm39) noncoding transcript Het
Gm6563 A C 19: 23,653,751 (GRCm39) R180S probably damaging Het
Gpr182 C A 10: 127,586,733 (GRCm39) V73F probably damaging Het
Gramd1b C T 9: 40,227,069 (GRCm39) R179H probably damaging Het
Hk1 C T 10: 62,188,884 (GRCm39) A10T probably benign Het
Hmgn3 C A 9: 82,992,437 (GRCm39) probably benign Het
Itgb6 G T 2: 60,458,329 (GRCm39) Q475K probably benign Het
Lrrc74b A G 16: 17,363,422 (GRCm39) S368P probably benign Het
Mfsd2b T C 12: 4,916,469 (GRCm39) T234A possibly damaging Het
Muc6 A T 7: 141,237,327 (GRCm39) Y270N probably damaging Het
Naip6 A G 13: 100,424,603 (GRCm39) probably benign Het
Or4b13 A T 2: 90,082,476 (GRCm39) Y285* probably null Het
Pear1 G A 3: 87,659,608 (GRCm39) T742I probably damaging Het
Peli2 G A 14: 48,493,491 (GRCm39) V238I probably benign Het
Pira2 A G 7: 3,847,611 (GRCm39) L26P probably damaging Het
Pot1b A G 17: 55,969,521 (GRCm39) V549A possibly damaging Het
Prdm16 T C 4: 154,432,384 (GRCm39) Y295C probably benign Het
Ptprd A T 4: 76,058,744 (GRCm39) probably benign Het
Rap1gap A T 4: 137,443,466 (GRCm39) M145L probably benign Het
Setd7 A T 3: 51,440,388 (GRCm39) probably benign Het
Ssx2ip T C 3: 146,133,765 (GRCm39) I258T probably benign Het
Stard9 T C 2: 120,529,565 (GRCm39) Y1941H possibly damaging Het
Stxbp3 T C 3: 108,707,468 (GRCm39) E420G probably benign Het
Tpra1 T C 6: 88,886,324 (GRCm39) V101A probably damaging Het
Tpx2 G T 2: 152,726,155 (GRCm39) Q373H probably damaging Het
Ttn C T 2: 76,557,352 (GRCm39) R29914Q probably damaging Het
Ubr3 T C 2: 69,833,809 (GRCm39) probably null Het
Usp18 G A 6: 121,230,730 (GRCm39) G53D probably damaging Het
Vps13c A T 9: 67,863,062 (GRCm39) H3026L probably benign Het
Zan T C 5: 137,461,888 (GRCm39) E1097G unknown 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
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
IGL02793:Il1b APN 2 129,209,171 (GRCm39) missense probably benign 0.00
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 2014-02-04