Incidental Mutation 'IGL02041:Il1b'
ID184746
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 #IGL02041
Quality Score
Status
Chromosome2
Chromosomal Location129364570-129371139 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 129369742 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 19 (N19K)
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 possibly damaging
Transcript: ENSMUST00000028881
AA Change: N19K

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000028881
Gene: ENSMUSG00000027398
AA Change: N19K

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,784,235 Q28L probably damaging Het
Afg1l A G 10: 42,454,380 V97A probably damaging Het
Akap6 A C 12: 53,140,653 S1617R probably damaging Het
Aldh1a3 T C 7: 66,407,831 N285D probably damaging Het
Arhgap20 A T 9: 51,846,190 N494I possibly damaging Het
Atg9a G T 1: 75,183,104 Q712K possibly damaging Het
Btbd11 G A 10: 85,387,554 D76N unknown Het
Cdcp2 G A 4: 107,107,189 probably benign Het
Cds2 T A 2: 132,294,443 I84N possibly damaging Het
Clcn3 T C 8: 60,923,153 I596V probably damaging Het
Ctxn1 A G 8: 4,258,514 L39P probably damaging Het
Efhb A T 17: 53,426,259 V528D probably damaging Het
Fmod T G 1: 134,040,263 S14A probably benign Het
Foxh1 A G 15: 76,668,920 F198S probably damaging Het
Gcc2 A G 10: 58,269,281 E77G probably damaging Het
Gm5420 G T 10: 21,691,034 noncoding transcript Het
Gm6434 T G 7: 25,882,230 noncoding transcript Het
Lama2 T A 10: 26,984,326 D3055V probably damaging Het
Lcn3 G A 2: 25,765,624 V18I probably benign Het
Lpcat2 A G 8: 92,918,181 S533G probably benign Het
Map4k2 G A 19: 6,351,318 R606Q probably benign Het
Mtnr1b T C 9: 15,863,293 T157A probably benign Het
Myo15 G A 11: 60,506,863 E2705K probably damaging Het
Ncf2 A G 1: 152,836,120 probably benign Het
Nfkbil1 G A 17: 35,220,958 T193M probably benign Het
Nmi T G 2: 51,960,629 K9T possibly damaging Het
Olfr494 T C 7: 108,367,535 F15S probably damaging Het
Olfr710 T C 7: 106,944,113 D296G possibly damaging Het
Olfr804 A G 10: 129,705,235 D119G probably damaging Het
Osbpl7 T A 11: 97,060,508 C502S probably benign Het
Pex5 A T 6: 124,405,281 probably benign Het
Pkhd1l1 T A 15: 44,493,056 probably null Het
Prmt3 C T 7: 49,828,963 T424M possibly damaging Het
Rapgef4 G A 2: 72,198,796 G404D probably damaging Het
Rbm5 C T 9: 107,755,846 probably benign Het
Rfc2 T A 5: 134,594,244 F238L probably benign Het
Rsl1 A G 13: 67,176,548 E46G probably damaging Het
Sall1 A G 8: 89,031,469 F669S probably damaging Het
Sipa1l2 A G 8: 125,491,819 S260P probably benign Het
Slc26a8 A G 17: 28,642,251 Y820H probably damaging Het
Tas2r115 A G 6: 132,737,467 F174L probably benign Het
Terb1 A C 8: 104,495,114 C185G probably damaging Het
Vmn2r108 A T 17: 20,463,136 V602E probably damaging Het
Vmn2r58 T A 7: 41,865,279 I89F probably damaging Het
Vps13b G T 15: 35,423,245 R237L probably damaging Het
Zfp865 T C 7: 5,031,373 S786P 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
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 On2014-05-07