|Institutional Source||Beutler Lab|
|Gene Name||interferon beta 1, fibroblast|
|Synonyms||IFNB, interferon beta 1, fibroblast, Ifb, IFN-beta|
|Is this an essential gene?||Probably non essential (E-score: 0.078)|
|Stock #||R0375 (G1)|
|Chromosomal Location||88522025-88522774 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 88522744 bp|
|Amino Acid Change||Phenylalanine to Isoleucine at position 11 (F11I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000056720 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000055671]|
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 benign
AA Change: F11I
PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: F11I
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (61/61)|
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||
|Other mutations in Ifnb1||
(F):5'- GTTGAGGACATCTCCCACGTCAATC -3'
(R):5'- TCCTCTGAGGCAGAAAGGACCATC -3'
(F):5'- GCAAAGGCAGTGTAACTCTTCTG -3'
(R):5'- GGACCATCCCTTATAAATAGCACAGG -3'