Incidental Mutation 'IGL03208:Irf2'
ID 413201
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Irf2
Ensembl Gene ENSMUSG00000031627
Gene Name interferon regulatory factor 2
Synonyms Irf-2, 9830146E22Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.355) question?
Stock # IGL03208
Quality Score
Status
Chromosome 8
Chromosomal Location 47192767-47300493 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 47260340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 53 (I53L)
Ref Sequence ENSEMBL: ENSMUSP00000146714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034041] [ENSMUST00000207105] [ENSMUST00000207571] [ENSMUST00000208433] [ENSMUST00000208507] [ENSMUST00000210284] [ENSMUST00000210218]
AlphaFold P23906
Predicted Effect probably damaging
Transcript: ENSMUST00000034041
AA Change: I91L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034041
Gene: ENSMUSG00000031627
AA Change: I91L

DomainStartEndE-ValueType
IRF 1 114 4.09e-61 SMART
low complexity region 115 132 N/A INTRINSIC
Blast:IRF 247 301 3e-25 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000207105
AA Change: I53L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000207571
Predicted Effect probably benign
Transcript: ENSMUST00000208433
AA Change: I91L

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000208507
AA Change: I91L

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208976
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210095
Predicted Effect probably benign
Transcript: ENSMUST00000210284
AA Change: I91L

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000210218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210334
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IRF2 encodes interferon regulatory factor 2, a member of the interferon regulatory transcription factor (IRF) family. IRF2 competitively inhibits the IRF1-mediated transcriptional activation of interferons alpha and beta, and presumably other genes that employ IRF1 for transcription activation. However, IRF2 also functions as a transcriptional activator of histone H4. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormalities in B lymphopoiesis and hematopoiesis, often die prematurely, show increased mortality following lymphocytic choriomeningitis virus infection, and develop an inflammatory skin disease involving CD8+ Tcells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 T C 4: 40,186,424 (GRCm39) V612A possibly damaging Het
Cd72 T A 4: 43,452,337 (GRCm39) T195S probably damaging Het
Cluh C A 11: 74,560,332 (GRCm39) probably null Het
Cntn3 T C 6: 102,164,060 (GRCm39) Y882C probably damaging Het
Ctnnal1 T A 4: 56,813,833 (GRCm39) K645N probably benign Het
Entpd6 T A 2: 150,610,838 (GRCm39) Y385N probably damaging Het
Epha3 T C 16: 63,431,452 (GRCm39) Y484C probably damaging Het
Exo1 G A 1: 175,723,811 (GRCm39) A386T probably benign Het
Fam149b T C 14: 20,401,370 (GRCm39) probably benign Het
Fastkd2 G A 1: 63,778,365 (GRCm39) E413K probably damaging Het
Fbxl3 A T 14: 103,320,376 (GRCm39) L405* probably null Het
Gpr75 A T 11: 30,842,699 (GRCm39) I535F probably damaging Het
Lca5l T C 16: 95,980,046 (GRCm39) E28G probably damaging Het
Mon2 A G 10: 122,853,974 (GRCm39) probably benign Het
Or10z1 A G 1: 174,077,959 (GRCm39) F178S probably damaging Het
Or52n4b T C 7: 108,144,326 (GRCm39) V196A probably benign Het
Plekhm1 T C 11: 103,267,596 (GRCm39) K792E probably benign Het
Ppp1r14c A T 10: 3,373,531 (GRCm39) D114V probably damaging Het
Rnf20 G T 4: 49,645,706 (GRCm39) probably benign Het
Srgap1 G A 10: 121,628,171 (GRCm39) P934S possibly damaging Het
Sult2b1 T C 7: 45,383,053 (GRCm39) E243G probably damaging Het
Tecta A G 9: 42,248,396 (GRCm39) probably benign Het
Tshr T C 12: 91,500,716 (GRCm39) L147P probably damaging Het
Vmn1r67 T A 7: 10,181,025 (GRCm39) S96R possibly damaging Het
Other mutations in Irf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01976:Irf2 APN 8 47,260,260 (GRCm39) missense probably damaging 1.00
IGL02251:Irf2 APN 8 47,260,788 (GRCm39) critical splice donor site probably null
IGL02403:Irf2 APN 8 47,299,207 (GRCm39) missense probably damaging 1.00
Gentle UTSW 8 47,260,316 (GRCm39) missense probably damaging 1.00
softie UTSW 8 47,260,314 (GRCm39) missense probably damaging 1.00
R0053:Irf2 UTSW 8 47,271,886 (GRCm39) missense probably benign 0.44
R0053:Irf2 UTSW 8 47,271,886 (GRCm39) missense probably benign 0.44
R0411:Irf2 UTSW 8 47,299,096 (GRCm39) missense probably benign
R1523:Irf2 UTSW 8 47,290,875 (GRCm39) critical splice donor site probably null
R1888:Irf2 UTSW 8 47,260,388 (GRCm39) nonsense probably null
R1888:Irf2 UTSW 8 47,260,388 (GRCm39) nonsense probably null
R2059:Irf2 UTSW 8 47,260,380 (GRCm39) missense probably damaging 1.00
R2076:Irf2 UTSW 8 47,298,962 (GRCm39) missense probably damaging 0.97
R2259:Irf2 UTSW 8 47,290,868 (GRCm39) missense probably benign 0.00
R4691:Irf2 UTSW 8 47,299,222 (GRCm39) missense probably damaging 1.00
R5722:Irf2 UTSW 8 47,271,831 (GRCm39) missense possibly damaging 0.95
R7163:Irf2 UTSW 8 47,290,712 (GRCm39) missense possibly damaging 0.83
R7216:Irf2 UTSW 8 47,246,591 (GRCm39) missense probably benign
R7337:Irf2 UTSW 8 47,260,316 (GRCm39) missense probably damaging 1.00
R7792:Irf2 UTSW 8 47,260,314 (GRCm39) missense probably damaging 1.00
R8416:Irf2 UTSW 8 47,271,887 (GRCm39) missense probably benign 0.00
R8436:Irf2 UTSW 8 47,271,929 (GRCm39) missense probably damaging 0.99
R8798:Irf2 UTSW 8 47,260,349 (GRCm39) missense probably benign 0.18
X0053:Irf2 UTSW 8 47,260,302 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02