Incidental Mutation 'IGL02726:Il1b'
ID 305217
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 # IGL02726
Quality Score
Status
Chromosome 2
Chromosomal Location 129206490-129213059 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129209242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 129 (D129E)
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: D129E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028881
Gene: ENSMUSG00000027398
AA Change: D129E

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 A T 2: 128,501,705 (GRCm39) M779K probably benign Het
Art1 G A 7: 101,759,955 (GRCm39) V85M probably damaging Het
Atad2b G T 12: 5,024,003 (GRCm39) E43* probably null Het
Clec4a4 A T 6: 122,967,338 (GRCm39) I5F probably damaging Het
Cr1l A T 1: 194,812,188 (GRCm39) I45N probably damaging Het
Dmbt1 T A 7: 130,676,140 (GRCm39) probably benign Het
Dnajb3 A T 1: 88,133,372 (GRCm39) V10E probably damaging Het
Dnajc22 A T 15: 98,998,881 (GRCm39) H22L probably damaging Het
Dnal4 A G 15: 79,647,745 (GRCm39) V40A probably damaging Het
Dsg1b G A 18: 20,532,542 (GRCm39) V529I probably benign Het
Elp1 T A 4: 56,767,878 (GRCm39) probably null Het
Fam131c T A 4: 141,110,113 (GRCm39) D170E probably benign Het
Got1 G A 19: 43,488,851 (GRCm39) probably null Het
Herc1 T A 9: 66,349,270 (GRCm39) V2043E probably benign Het
Hmcn1 A T 1: 150,532,445 (GRCm39) Y3147* probably null Het
Ifi44 T C 3: 151,455,233 (GRCm39) probably benign Het
Ino80 A T 2: 119,272,964 (GRCm39) I504N probably damaging Het
Itpr2 A G 6: 146,277,419 (GRCm39) I655T probably benign Het
Kcnk4 A G 19: 6,904,457 (GRCm39) probably null Het
Mrgprb2 T A 7: 48,202,618 (GRCm39) R36W probably damaging Het
Mslnl T C 17: 25,963,077 (GRCm39) probably null Het
Or10ak14 T A 4: 118,610,961 (GRCm39) Y260F probably benign Het
Or1e33 T C 11: 73,738,691 (GRCm39) S87G probably benign Het
Or2ag1b A C 7: 106,288,577 (GRCm39) Y120* probably null Het
Or8k16 G T 2: 85,520,554 (GRCm39) L260F possibly damaging Het
Pcnx4 G T 12: 72,620,986 (GRCm39) M935I probably benign Het
Pdgfra C T 5: 75,355,618 (GRCm39) Q1043* probably null Het
Pf4 T C 5: 90,920,523 (GRCm39) V28A probably benign Het
Piezo1 A G 8: 123,213,894 (GRCm39) L1689P probably damaging Het
Ppa2 A G 3: 133,076,222 (GRCm39) S284G possibly damaging Het
Pramel22 G T 4: 143,381,955 (GRCm39) P247H probably damaging Het
Psd2 T C 18: 36,120,355 (GRCm39) probably null Het
Rbm25 G T 12: 83,719,626 (GRCm39) G549W probably damaging Het
Ryr2 T C 13: 11,753,206 (GRCm39) D1705G probably damaging Het
Shf A T 2: 122,189,969 (GRCm39) D96E probably damaging Het
Slc1a1 G A 19: 28,889,169 (GRCm39) V481M probably benign Het
Slc4a9 T C 18: 36,672,670 (GRCm39) V807A probably benign Het
Syne2 T A 12: 76,062,356 (GRCm39) I4226N probably damaging Het
Tex56 A G 13: 35,136,943 (GRCm39) probably benign Het
Tkfc A T 19: 10,573,576 (GRCm39) V254E possibly damaging Het
Ubr2 A C 17: 47,283,847 (GRCm39) Y601D probably damaging Het
Ubr5 A C 15: 38,000,806 (GRCm39) probably benign Het
Vmn1r27 A T 6: 58,192,854 (GRCm39) I50K possibly damaging Het
Wdr55 A G 18: 36,896,435 (GRCm39) E375G 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
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 2015-04-16