Incidental Mutation 'IGL01160:Irf3'
ID53640
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Irf3
Ensembl Gene ENSMUSG00000003184
Gene Nameinterferon regulatory factor 3
SynonymsC920001K05Rik, IRF-3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01160
Quality Score
Status
Chromosome7
Chromosomal Location44997648-45002848 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 44998796 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 28 (D28E)
Ref Sequence ENSEMBL: ENSMUSP00000146383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003284] [ENSMUST00000003290] [ENSMUST00000085383] [ENSMUST00000107834] [ENSMUST00000207128] [ENSMUST00000207342] [ENSMUST00000207443] [ENSMUST00000209066] [ENSMUST00000207521] [ENSMUST00000207755] [ENSMUST00000211735]
Predicted Effect possibly damaging
Transcript: ENSMUST00000003284
AA Change: D28E

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000003284
Gene: ENSMUSG00000003184
AA Change: D28E

DomainStartEndE-ValueType
IRF 1 112 6.92e-50 SMART
IRF-3 195 373 4.87e-73 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000003290
SMART Domains Protein: ENSMUSP00000003290
Gene: ENSMUSG00000003190

DomainStartEndE-ValueType
low complexity region 47 61 N/A INTRINSIC
low complexity region 123 139 N/A INTRINSIC
low complexity region 170 197 N/A INTRINSIC
SCOP:d1maz__ 227 243 4e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000085383
SMART Domains Protein: ENSMUSP00000082501
Gene: ENSMUSG00000038406

DomainStartEndE-ValueType
low complexity region 12 27 N/A INTRINSIC
low complexity region 59 78 N/A INTRINSIC
low complexity region 83 95 N/A INTRINSIC
low complexity region 185 224 N/A INTRINSIC
coiled coil region 269 295 N/A INTRINSIC
low complexity region 367 379 N/A INTRINSIC
low complexity region 382 396 N/A INTRINSIC
low complexity region 411 435 N/A INTRINSIC
low complexity region 488 511 N/A INTRINSIC
low complexity region 534 618 N/A INTRINSIC
low complexity region 631 641 N/A INTRINSIC
low complexity region 669 685 N/A INTRINSIC
low complexity region 703 726 N/A INTRINSIC
low complexity region 730 739 N/A INTRINSIC
low complexity region 752 775 N/A INTRINSIC
Blast:IG_like 776 833 6e-6 BLAST
low complexity region 843 873 N/A INTRINSIC
low complexity region 876 888 N/A INTRINSIC
low complexity region 917 937 N/A INTRINSIC
coiled coil region 963 983 N/A INTRINSIC
low complexity region 1025 1037 N/A INTRINSIC
low complexity region 1098 1128 N/A INTRINSIC
low complexity region 1136 1146 N/A INTRINSIC
Blast:IG_like 1151 1194 2e-16 BLAST
low complexity region 1225 1256 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107834
AA Change: D28E

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103465
Gene: ENSMUSG00000003184
AA Change: D28E

DomainStartEndE-ValueType
IRF 1 112 6.92e-50 SMART
IRF-3 195 373 4.87e-73 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150613
Predicted Effect probably benign
Transcript: ENSMUST00000207128
Predicted Effect probably benign
Transcript: ENSMUST00000207129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207213
Predicted Effect probably benign
Transcript: ENSMUST00000207342
Predicted Effect probably benign
Transcript: ENSMUST00000207443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207476
Predicted Effect possibly damaging
Transcript: ENSMUST00000209066
AA Change: D28E

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000207521
AA Change: D28E

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208128
Predicted Effect probably benign
Transcript: ENSMUST00000207755
Predicted Effect probably benign
Transcript: ENSMUST00000211735
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207555
Predicted Effect probably benign
Transcript: ENSMUST00000208958
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208906
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208143
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the interferon regulatory transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous null mice are more susceptible to viral infection and exhibit lower serum interferon levels in response to viral infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016F16Rik A G 13: 58,381,976 V274A probably damaging Het
Atp11a A G 8: 12,844,609 T188A probably damaging Het
Bfsp2 A G 9: 103,480,168 V20A probably benign Het
Btn1a1 G A 13: 23,461,737 T154M possibly damaging Het
Ccdc117 T C 11: 5,531,532 S200G probably benign Het
Col24a1 G A 3: 145,507,713 G1358S probably damaging Het
Crlf2 T C 5: 109,557,570 T40A possibly damaging Het
Cstf2 T A X: 134,060,729 probably benign Het
Dcdc2a A G 13: 25,119,329 D281G probably benign Het
Dmd T C X: 83,924,961 L1855P probably damaging Het
Dnajc5g T C 5: 31,110,185 V112A probably benign Het
Dnmt1 G A 9: 20,917,319 P828S possibly damaging Het
Dock3 A T 9: 106,906,688 S268R probably damaging Het
Dpep2 C T 8: 105,986,444 V440M possibly damaging Het
F8 A T X: 75,288,061 M741K probably damaging Het
Fermt3 C T 19: 7,003,258 probably null Het
Fosb A G 7: 19,307,114 probably null Het
Gm14085 A C 2: 122,524,796 probably null Het
Gm3238 C A 10: 77,770,883 probably benign Het
Hyal5 T A 6: 24,876,481 S118T possibly damaging Het
Igf2r T C 17: 12,704,775 D1140G possibly damaging Het
Ighmbp2 G T 19: 3,276,750 probably benign Het
Ly6i A T 15: 74,980,032 I96N possibly damaging Het
Macrod2 T C 2: 140,825,042 probably benign Het
Olfr1222 A T 2: 89,125,728 M1K probably null Het
Olfr124 A G 17: 37,806,050 R302G probably benign Het
Olfr1309 A G 2: 111,983,933 L47P probably damaging Het
Olfr67 C T 7: 103,787,636 G214R probably damaging Het
Otof A T 5: 30,381,535 M1128K probably benign Het
Parp9 A T 16: 35,947,998 I183F probably damaging Het
Pbsn T C X: 77,842,571 N147S probably benign Het
Pcf11 A G 7: 92,661,686 S365P possibly damaging Het
Pcnx4 T G 12: 72,579,377 V1119G probably damaging Het
Rsf1 C T 7: 97,685,584 T1308M probably damaging Het
Sidt2 A G 9: 45,942,726 L647P probably damaging Het
Slc7a8 A G 14: 54,735,124 V280A probably benign Het
Spg20 T A 3: 55,121,756 F323I probably damaging Het
Supt16 A T 14: 52,183,132 D70E probably benign Het
Tmc4 T C 7: 3,675,518 Y38C possibly damaging Het
Tmco5b G T 2: 113,287,798 probably benign Het
Trav10 G A 14: 53,505,782 probably benign Het
Vmn2r28 A T 7: 5,486,478 M454K probably damaging Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign Het
Yipf7 T C 5: 69,519,317 I160V probably benign Het
Zc3h18 T C 8: 122,408,250 probably benign Het
Zfp429 G A 13: 67,391,013 S91L probably damaging Het
Other mutations in Irf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01935:Irf3 APN 7 45000770 missense probably benign
IGL02334:Irf3 APN 7 44998710 unclassified probably benign
IGL02428:Irf3 APN 7 44998739 missense probably damaging 1.00
IGL02647:Irf3 APN 7 45000376 missense probably benign 0.01
R0801:Irf3 UTSW 7 45000634 unclassified probably benign
R2128:Irf3 UTSW 7 45001744 missense probably damaging 1.00
R2981:Irf3 UTSW 7 44998700 splice site probably null
R3746:Irf3 UTSW 7 44998873 missense probably damaging 1.00
R5484:Irf3 UTSW 7 44999958 missense probably damaging 1.00
R8331:Irf3 UTSW 7 45000959 missense probably damaging 1.00
Posted On2013-06-28