Incidental Mutation 'IGL02434:Ifnb1'
ID 293209
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ifnb1
Ensembl Gene ENSMUSG00000048806
Gene Name interferon beta 1, fibroblast
Synonyms interferon beta 1, fibroblast, Ifb, IFNB, IFN-beta
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # IGL02434
Quality Score
Status
Chromosome 4
Chromosomal Location 88440262-88441011 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88440755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 86 (V86A)
Ref Sequence ENSEMBL: ENSMUSP00000056720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055671]
AlphaFold P01575
PDB Structure THREE-DIMENSIONAL CRYSTAL STRUCTURE OF RECOMBINANT MURINE INTERFERON-BETA [X-RAY DIFFRACTION]
Crystal structure of recombinant murine interferon beta [X-RAY DIFFRACTION]
Murine Ifnar1 in complex with interferon-beta [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000055671
AA Change: V86A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000056720
Gene: ENSMUSG00000048806
AA Change: V86A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IFabd 56 170 3.87e-49 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytokine that belongs to the interferon family of signaling proteins, which are released as part of the innate immune response to pathogens. The protein encoded by this gene belongs to the type I class of interferons, which are important for defense against viral infections. In addition, type I interferons are involved in cell differentiation and anti-tumor defenses. Following secretion in response to a pathogen, type I interferons bind a homologous receptor complex and induce transcription of genes such as those encoding inflammatory cytokines and chemokines. Overactivation of type I interferon secretion is linked to autoimmune diseases. Mice deficient for this gene display several phenotypes including defects in B cell maturation and increased susceptibility to viral infection. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit enhanced proliferation and reduced TNF-alpha production by activated T lymphocytes, a defect in B cell maturation, fewer circulating granulocytes and macrophages, and increased viral susceptibility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 C A 15: 72,992,930 (GRCm39) G525V probably damaging Het
Agxt2 T C 15: 10,358,686 (GRCm39) S2P possibly damaging Het
Atg2b C T 12: 105,605,466 (GRCm39) V339I probably benign Het
Btc T A 5: 91,510,186 (GRCm39) I136F probably damaging Het
Cemip A T 7: 83,604,492 (GRCm39) M850K probably damaging Het
Cfap54 T A 10: 92,902,616 (GRCm39) T179S probably benign Het
Chd7 T C 4: 8,752,145 (GRCm39) L214P probably benign Het
Garnl3 T A 2: 32,944,217 (GRCm39) N114I probably damaging Het
Gm10010 G T 6: 128,177,433 (GRCm39) noncoding transcript Het
Gstcd A G 3: 132,701,963 (GRCm39) probably benign Het
Htr2b A G 1: 86,038,492 (GRCm39) V38A probably benign Het
Hyal4 G A 6: 24,763,857 (GRCm39) W339* probably null Het
Itpr1 A G 6: 108,466,883 (GRCm39) probably null Het
Jag1 T C 2: 136,929,075 (GRCm39) S794G probably benign Het
Kdm5c T A X: 151,016,558 (GRCm39) M1K probably null Het
Lct A G 1: 128,231,527 (GRCm39) V774A probably damaging Het
Man2a2 G A 7: 80,009,388 (GRCm39) A822V probably damaging Het
Med14 A T X: 12,612,063 (GRCm39) D371E possibly damaging Het
Nrcam A G 12: 44,637,026 (GRCm39) probably benign Het
Or14j10 T A 17: 37,935,467 (GRCm39) N20Y possibly damaging Het
Or52e18 A T 7: 104,609,279 (GRCm39) M220K probably benign Het
Or52e18 A T 7: 104,609,281 (GRCm39) Y219* probably null Het
Pitpnm1 C T 19: 4,153,377 (GRCm39) R178W probably benign Het
Prb1b T A 6: 132,289,339 (GRCm39) R162W unknown Het
Prkcg A G 7: 3,367,406 (GRCm39) I324V probably benign Het
Prr30 A T 14: 101,435,804 (GRCm39) C253S possibly damaging Het
Ptgis A T 2: 167,082,262 (GRCm39) probably null Het
Rab11fip3 C T 17: 26,287,809 (GRCm39) A115T possibly damaging Het
Reps2 C T X: 161,309,253 (GRCm39) probably null Het
Rev3l A G 10: 39,698,587 (GRCm39) D1028G probably damaging Het
Rsbn1l T C 5: 21,124,732 (GRCm39) R357G probably damaging Het
Scn5a A G 9: 119,362,859 (GRCm39) L587P possibly damaging Het
Tanc2 C T 11: 105,670,868 (GRCm39) T155I probably benign Het
Tfb2m A G 1: 179,359,700 (GRCm39) probably benign Het
Tfpi A G 2: 84,282,892 (GRCm39) probably benign Het
Tg T C 15: 66,636,191 (GRCm39) S593P probably damaging Het
Unc13c T C 9: 73,839,910 (GRCm39) S314G probably benign Het
Other mutations in Ifnb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Ifnb1 APN 4 88,440,480 (GRCm39) missense probably benign 0.01
IGL02725:Ifnb1 APN 4 88,440,867 (GRCm39) missense probably benign 0.02
R0375:Ifnb1 UTSW 4 88,440,981 (GRCm39) missense probably benign 0.33
R0395:Ifnb1 UTSW 4 88,440,766 (GRCm39) missense possibly damaging 0.95
R2063:Ifnb1 UTSW 4 88,440,996 (GRCm39) missense possibly damaging 0.88
R2064:Ifnb1 UTSW 4 88,440,996 (GRCm39) missense possibly damaging 0.88
R2065:Ifnb1 UTSW 4 88,440,996 (GRCm39) missense possibly damaging 0.88
R2066:Ifnb1 UTSW 4 88,440,996 (GRCm39) missense possibly damaging 0.88
R6091:Ifnb1 UTSW 4 88,440,813 (GRCm39) missense probably benign 0.00
R7499:Ifnb1 UTSW 4 88,440,911 (GRCm39) missense probably benign 0.00
R8902:Ifnb1 UTSW 4 88,440,547 (GRCm39) missense probably damaging 0.99
R9484:Ifnb1 UTSW 4 88,440,915 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16