Incidental Mutation 'R6091:Ifnb1'
ID 485913
Institutional Source Beutler Lab
Gene Symbol Ifnb1
Ensembl Gene ENSMUSG00000048806
Gene Name interferon beta 1, fibroblast
Synonyms interferon beta 1, fibroblast, Ifb, IFNB, IFN-beta
MMRRC Submission 044248-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R6091 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 88440262-88441011 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88440813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 67 (M67L)
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 benign
Transcript: ENSMUST00000055671
AA Change: M67L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000056720
Gene: ENSMUSG00000048806
AA Change: M67L

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IFabd 56 170 3.87e-49 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.8%
Validation Efficiency 96% (54/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T G 2: 35,252,348 (GRCm39) T50P possibly damaging Het
Adad1 A G 3: 37,139,118 (GRCm39) E396G possibly damaging Het
Adamtsl3 T A 7: 82,114,829 (GRCm39) C232S probably damaging Het
AI606181 T C 19: 41,582,063 (GRCm39) S78P unknown Het
Amph T A 13: 19,309,293 (GRCm39) M457K probably benign Het
Ano1 A T 7: 144,223,171 (GRCm39) M174K probably benign Het
C3 T A 17: 57,528,967 (GRCm39) K632* probably null Het
Cep170 C T 1: 176,583,397 (GRCm39) G994D probably damaging Het
Chd7 T C 4: 8,751,875 (GRCm39) V124A probably damaging Het
Chd9 A G 8: 91,761,691 (GRCm39) K2259E probably damaging Het
Col7a1 A G 9: 108,784,402 (GRCm39) T137A unknown Het
Dcc C T 18: 71,942,185 (GRCm39) V311I probably benign Het
Ddx42 A T 11: 106,125,796 (GRCm39) Q282L probably damaging Het
Fcgbp A G 7: 27,804,390 (GRCm39) T1833A possibly damaging Het
Fpr-rs3 A G 17: 20,844,532 (GRCm39) I203T probably benign Het
Frem1 A G 4: 82,818,796 (GRCm39) I2139T probably benign Het
Frmpd2 T C 14: 33,244,820 (GRCm39) V546A probably damaging Het
Gbp11 G T 5: 105,479,254 (GRCm39) T123N possibly damaging Het
Hs3st1 G A 5: 39,772,007 (GRCm39) P212L probably damaging Het
Ighv1-54 T C 12: 115,157,497 (GRCm39) N50S probably benign Het
Ikzf4 G A 10: 128,470,542 (GRCm39) T326I probably benign Het
Ints2 A T 11: 86,127,429 (GRCm39) V501E probably damaging Het
Mfsd1 C A 3: 67,507,270 (GRCm39) probably null Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mrps11 G A 7: 78,438,466 (GRCm39) A73T possibly damaging Het
Mterf4 T C 1: 93,229,291 (GRCm39) E311G probably damaging Het
Mx2 A G 16: 97,347,635 (GRCm39) T176A probably damaging Het
Mycbp2 A C 14: 103,460,482 (GRCm39) L1495R probably damaging Het
Myo3b A G 2: 70,069,113 (GRCm39) T451A probably benign Het
Myrfl T C 10: 116,685,111 (GRCm39) T90A probably benign Het
Nbeal1 A G 1: 60,220,715 (GRCm39) probably benign Het
Ncor1 A G 11: 62,310,443 (GRCm39) L201P probably damaging Het
Nfxl1 G T 5: 72,671,533 (GRCm39) L909I probably benign Het
Nr3c1 GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC 18: 39,620,011 (GRCm39) probably benign Het
Or5aq1b T A 2: 86,901,705 (GRCm39) S258C probably benign Het
Plscr5 A G 9: 92,086,437 (GRCm39) T136A probably benign Het
Ppp1r3a G A 6: 14,719,339 (GRCm39) T525I probably benign Het
Ptprg G A 14: 12,215,979 (GRCm38) G1143R probably damaging Het
Rbm47 G C 5: 66,183,626 (GRCm39) R326G probably damaging Het
Ryr1 T C 7: 28,771,398 (GRCm39) T2541A probably benign Het
Sall1 A G 8: 89,755,247 (GRCm39) L1244P probably damaging Het
Sec16a G A 2: 26,316,482 (GRCm39) H1673Y probably damaging Het
Slc22a19 A G 19: 7,688,428 (GRCm39) I44T probably benign Het
Snap91 T A 9: 86,721,681 (GRCm39) N53Y probably damaging Het
Sorcs1 T C 19: 50,276,539 (GRCm39) T338A possibly damaging Het
Taf6l T C 19: 8,755,920 (GRCm39) T243A probably benign Het
Tex10 T C 4: 48,459,891 (GRCm39) R487G probably damaging Het
Tfcp2 G T 15: 100,410,194 (GRCm39) T391N probably damaging Het
Tnxb G A 17: 34,929,338 (GRCm39) V2794M probably damaging Het
Ush2a T G 1: 188,132,000 (GRCm39) C741G probably damaging Het
Vmn1r3 T A 4: 3,184,684 (GRCm39) I208F probably damaging Het
Vmn2r28 T A 7: 5,496,790 (GRCm39) I21F possibly damaging Het
Vmn2r93 A G 17: 18,545,958 (GRCm39) D610G probably benign Het
Wbp1 T C 6: 83,096,468 (GRCm39) S229G probably benign Het
Xirp1 A G 9: 119,847,029 (GRCm39) V618A probably benign Het
Zbtb32 A G 7: 30,291,254 (GRCm39) S14P possibly damaging Het
Zfp24 A G 18: 24,147,269 (GRCm39) S348P probably damaging Het
Other mutations in Ifnb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Ifnb1 APN 4 88,440,480 (GRCm39) missense probably benign 0.01
IGL02434:Ifnb1 APN 4 88,440,755 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GGACATCTCCCACGTCAATC -3'
(R):5'- TCCATCATGAACAACAGGTGG -3'

Sequencing Primer
(F):5'- GACATCTCCCACGTCAATCTTTCC -3'
(R):5'- TGAACAACAGGTGGATCCTC -3'
Posted On 2017-08-16