Incidental Mutation 'IGL01976:Irf2'
ID182669
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Irf2
Ensembl Gene ENSMUSG00000031627
Gene Nameinterferon regulatory factor 2
SynonymsIrf-2, 9830146E22Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.292) question?
Stock #IGL01976
Quality Score
Status
Chromosome8
Chromosomal Location46739732-46847458 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 46807225 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Methionine at position 26 (K26M)
Ref Sequence ENSEMBL: ENSMUSP00000146714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034041] [ENSMUST00000207105] [ENSMUST00000207571] [ENSMUST00000208433] [ENSMUST00000208507] [ENSMUST00000210218] [ENSMUST00000210284]
Predicted Effect probably damaging
Transcript: ENSMUST00000034041
AA Change: K64M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034041
Gene: ENSMUSG00000031627
AA Change: K64M

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: K26M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000207571
AA Change: K64M

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000208433
AA Change: K64M

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000208507
AA Change: K64M

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208976
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210095
Predicted Effect probably benign
Transcript: ENSMUST00000210218
Predicted Effect possibly damaging
Transcript: ENSMUST00000210284
AA Change: K64M

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T C 6: 85,622,665 V1960A possibly damaging Het
Asph A T 4: 9,475,471 N537K probably damaging Het
Bnip2 T C 9: 70,000,834 probably benign Het
Cc2d2a C A 5: 43,683,115 Q104K probably benign Het
Cd300ld A G 11: 114,987,444 S81P probably damaging Het
Clec4a1 T C 6: 122,928,074 probably benign Het
Dnajb8 T C 6: 88,222,526 S15P probably damaging Het
Erp27 C A 6: 136,919,989 V72L probably damaging Het
Gm13103 A G 4: 143,852,793 N316S probably benign Het
Gpr156 A G 16: 37,979,033 T131A probably damaging Het
Grk1 T C 8: 13,415,993 V479A probably damaging Het
Hist1h2ba T A 13: 23,933,999 D53V possibly damaging Het
Hspg2 A G 4: 137,561,926 D3784G probably damaging Het
Irx6 C A 8: 92,676,089 C27* probably null Het
Izumo1r C T 9: 14,901,679 C99Y probably damaging Het
Klrb1a T A 6: 128,618,109 T132S probably benign Het
Mmp13 C T 9: 7,278,974 probably benign Het
Myo5b G A 18: 74,698,277 R766Q probably damaging Het
Myt1 T C 2: 181,795,739 L81P probably damaging Het
Nfat5 G A 8: 107,367,559 V793I probably damaging Het
Nup210 A G 6: 91,053,614 V108A possibly damaging Het
Olfr32 A G 2: 90,138,924 S72P probably damaging Het
Omd T A 13: 49,589,643 Y56* probably null Het
Psmd9 A G 5: 123,234,634 E60G probably damaging Het
Rab11fip1 T C 8: 27,152,797 E658G possibly damaging Het
Smchd1 T A 17: 71,394,725 K1091* probably null Het
Supt16 A T 14: 52,182,307 N111K possibly damaging Het
Trrap A G 5: 144,856,989 T3666A probably benign Het
Ttn T C 2: 76,785,751 D8289G probably damaging Het
Ush2a T A 1: 188,911,241 S4267T probably benign Het
Usp50 T A 2: 126,709,466 E31V probably benign Het
Other mutations in Irf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02251:Irf2 APN 8 46807753 critical splice donor site probably null
IGL02403:Irf2 APN 8 46846172 missense probably damaging 1.00
IGL03208:Irf2 APN 8 46807305 missense probably damaging 1.00
Gentle UTSW 8 46807281 missense probably damaging 1.00
softie UTSW 8 46807279 missense probably damaging 1.00
R0053:Irf2 UTSW 8 46818851 missense probably benign 0.44
R0053:Irf2 UTSW 8 46818851 missense probably benign 0.44
R0411:Irf2 UTSW 8 46846061 missense probably benign
R1523:Irf2 UTSW 8 46837840 critical splice donor site probably null
R1888:Irf2 UTSW 8 46807353 nonsense probably null
R1888:Irf2 UTSW 8 46807353 nonsense probably null
R2059:Irf2 UTSW 8 46807345 missense probably damaging 1.00
R2076:Irf2 UTSW 8 46845927 missense probably damaging 0.97
R2259:Irf2 UTSW 8 46837833 missense probably benign 0.00
R4691:Irf2 UTSW 8 46846187 missense probably damaging 1.00
R5722:Irf2 UTSW 8 46818796 missense possibly damaging 0.95
R7163:Irf2 UTSW 8 46837677 missense possibly damaging 0.83
R7216:Irf2 UTSW 8 46793556 missense probably benign
R7337:Irf2 UTSW 8 46807281 missense probably damaging 1.00
R7792:Irf2 UTSW 8 46807279 missense probably damaging 1.00
X0053:Irf2 UTSW 8 46807267 missense probably damaging 1.00
Posted On2014-05-07