Incidental Mutation 'R8902:Ifnb1'
ID 678227
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 068759-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R8902 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 88440262-88441011 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 88440547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 155 (N155K)
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: N155K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000056720
Gene: ENSMUSG00000048806
AA Change: N155K

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IFabd 56 170 3.87e-49 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 G T 4: 155,990,371 (GRCm39) R819L possibly damaging Het
App A G 16: 84,876,767 (GRCm39) V208A unknown Het
C1qtnf7 G A 5: 43,773,204 (GRCm39) E168K probably damaging Het
Cacna1e C T 1: 154,349,632 (GRCm39) M757I probably benign Het
Casp1 A G 9: 5,299,333 (GRCm39) T21A probably benign Het
Ccdc92 C T 5: 124,912,705 (GRCm39) A275T possibly damaging Het
Ccr4 T A 9: 114,325,620 (GRCm39) probably benign Het
Cct8l1 C T 5: 25,722,908 (GRCm39) T541I probably benign Het
Chrng G T 1: 87,138,397 (GRCm39) R396L possibly damaging Het
Cmip A G 8: 118,103,925 (GRCm39) T50A probably damaging Het
Ddx21 C A 10: 62,434,486 (GRCm39) S91I probably benign Het
Dnmbp A G 19: 43,890,225 (GRCm39) L514P probably benign Het
Echs1 A T 7: 139,690,499 (GRCm39) M191K probably damaging Het
Eps8 A G 6: 137,489,175 (GRCm39) S408P probably damaging Het
Fat2 T C 11: 55,200,896 (GRCm39) E726G probably damaging Het
Fpr2 T C 17: 18,113,190 (GRCm39) I62T probably benign Het
Gemin4 G A 11: 76,102,848 (GRCm39) Q638* probably null Het
Glrb A T 3: 80,769,285 (GRCm39) N147K probably damaging Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gtf2i T C 5: 134,278,720 (GRCm39) N637S probably benign Het
Hivep3 A G 4: 119,953,937 (GRCm39) E751G possibly damaging Het
Igf2bp3 G T 6: 49,065,365 (GRCm39) T509K probably damaging Het
Igsf10 T C 3: 59,243,633 (GRCm39) M234V probably benign Het
Iqgap2 C T 13: 95,818,711 (GRCm39) A682T probably benign Het
Ireb2 T G 9: 54,799,786 (GRCm39) M409R probably benign Het
Kat6b C T 14: 21,719,629 (GRCm39) T1327I probably benign Het
Krtap5-5 A G 7: 141,783,630 (GRCm39) S7P unknown Het
Lelp1 A T 3: 92,042,978 (GRCm39) C24S unknown Het
Malrd1 A T 2: 16,260,145 (GRCm39) K2122* probably null Het
Mei1 C A 15: 81,954,212 (GRCm39) R6S unknown Het
Meis3 T A 7: 15,911,887 (GRCm39) I119N probably benign Het
Mmp20 T C 9: 7,639,288 (GRCm39) V152A probably benign Het
Muc6 T A 7: 141,233,791 (GRCm39) I797F possibly damaging Het
Myo7a C T 7: 97,741,820 (GRCm39) E439K probably damaging Het
Neb C A 2: 52,133,222 (GRCm39) A3439S probably damaging Het
Nfe2l1 T A 11: 96,708,620 (GRCm39) D715V unknown Het
Obscn C A 11: 59,026,762 (GRCm39) R147L probably benign Het
Or14j5 T A 17: 38,162,101 (GRCm39) M206K probably benign Het
Or2m12 T A 16: 19,105,383 (GRCm39) I37F probably damaging Het
Or2y1b A T 11: 49,209,206 (GRCm39) T278S probably benign Het
Or4e5 G A 14: 52,728,010 (GRCm39) T137I probably benign Het
Or5d38 A G 2: 87,954,778 (GRCm39) S184P probably damaging Het
Plg T A 17: 12,629,790 (GRCm39) F608Y probably benign Het
Plppr1 C A 4: 49,319,836 (GRCm39) P154Q probably damaging Het
Ppp2r5e T C 12: 75,500,570 (GRCm39) K441R probably benign Het
Prkaca T C 8: 84,703,714 (GRCm39) S5P probably benign Het
Rbl1 T C 2: 157,041,420 (GRCm39) K69R probably benign Het
Rbpms2 T C 9: 65,558,351 (GRCm39) I129T probably benign Het
Serpina1c A T 12: 103,865,117 (GRCm39) N176K probably damaging Het
Sgsm3 C T 15: 80,890,796 (GRCm39) H117Y probably damaging Het
Sphkap A T 1: 83,256,685 (GRCm39) C355S probably benign Het
Stpg2 T A 3: 139,004,170 (GRCm39) V249E probably damaging Het
Syt2 T C 1: 134,675,391 (GRCm39) V414A possibly damaging Het
Tiam2 T C 17: 3,527,471 (GRCm39) I1050T probably benign Het
Tmem131 A T 1: 36,848,046 (GRCm39) I1134N probably damaging Het
Ttc23 A G 7: 67,342,761 (GRCm39) E293G Het
Ttc41 C A 10: 86,548,865 (GRCm39) R20S probably benign Het
Ttn C T 2: 76,571,133 (GRCm39) V26587M probably damaging Het
Ugt2a2 T C 5: 87,608,270 (GRCm39) K523R possibly damaging Het
Unc13c A G 9: 73,656,830 (GRCm39) C1124R probably damaging Het
Ush2a T A 1: 188,175,281 (GRCm39) N1126K probably damaging Het
Usp36 A T 11: 118,165,840 (GRCm39) L326Q probably damaging Het
Zfp568 T C 7: 29,713,307 (GRCm39) M120T probably benign Het
Zfp944 T C 17: 22,558,761 (GRCm39) D162G probably benign 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
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
R9484:Ifnb1 UTSW 4 88,440,915 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATTCACTACCAGTCCCAGAGTC -3'
(R):5'- GATGCTCCAGAATGTCTTTCTTG -3'

Sequencing Primer
(F):5'- GAGTCCGCCTCTGATGCTTAAAG -3'
(R):5'- CACTGGGTGGAATGAGACTATTG -3'
Posted On 2021-08-02