Incidental Mutation 'IGL02647:Irf3'
ID 301980
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Irf3
Ensembl Gene ENSMUSG00000003184
Gene Name interferon regulatory factor 3
Synonyms IRF-3, C920001K05Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02647
Quality Score
Status
Chromosome 7
Chromosomal Location 44647072-44652272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44649800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 6 (N6S)
Ref Sequence ENSEMBL: ENSMUSP00000147187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003284] [ENSMUST00000003290] [ENSMUST00000085383] [ENSMUST00000107834] [ENSMUST00000207128] [ENSMUST00000207521] [ENSMUST00000209066] [ENSMUST00000207443] [ENSMUST00000211735] [ENSMUST00000207755] [ENSMUST00000207342]
AlphaFold P70671
Predicted Effect probably benign
Transcript: ENSMUST00000003284
AA Change: N138S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000003284
Gene: ENSMUSG00000003184
AA Change: N138S

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 probably benign
Transcript: ENSMUST00000107834
AA Change: N138S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000103465
Gene: ENSMUSG00000003184
AA Change: N138S

DomainStartEndE-ValueType
IRF 1 112 6.92e-50 SMART
IRF-3 195 373 4.87e-73 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207128
AA Change: N6S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000207129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207213
Predicted Effect probably benign
Transcript: ENSMUST00000207521
AA Change: N138S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000209066
AA Change: N138S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect probably benign
Transcript: ENSMUST00000208958
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208128
Predicted Effect probably benign
Transcript: ENSMUST00000207443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208906
Predicted Effect probably benign
Transcript: ENSMUST00000211735
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209006
Predicted Effect probably benign
Transcript: ENSMUST00000207755
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208143
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207476
Predicted Effect probably benign
Transcript: ENSMUST00000207342
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A T 14: 29,712,847 (GRCm39) R497W probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Bmx T C X: 162,988,231 (GRCm39) E495G probably damaging Het
Cbx5 T C 15: 103,109,330 (GRCm39) probably null Het
Cenpj C T 14: 56,767,536 (GRCm39) V1203M probably damaging Het
Ces1b T C 8: 93,783,672 (GRCm39) H516R probably benign Het
D430041D05Rik T C 2: 104,078,611 (GRCm39) N1235S probably damaging Het
Depdc1a A T 3: 159,228,503 (GRCm39) K418N probably damaging Het
Dysf G A 6: 84,114,355 (GRCm39) V1215M probably damaging Het
Flacc1 T C 1: 58,709,613 (GRCm39) T181A probably benign Het
Foxf2 A T 13: 31,811,218 (GRCm39) N386Y probably damaging Het
Frem1 A T 4: 82,919,991 (GRCm39) V455E probably damaging Het
Fzd7 C A 1: 59,523,554 (GRCm39) P479Q probably damaging Het
Hnmt G A 2: 23,904,319 (GRCm39) S114F possibly damaging Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Lrba A G 3: 86,267,038 (GRCm39) D1576G probably benign Het
Lsg1 A T 16: 30,404,370 (GRCm39) probably null Het
Mal2 T C 15: 54,451,833 (GRCm39) F85L probably damaging Het
Me2 A C 18: 73,930,974 (GRCm39) S106R probably benign Het
Med21 T C 6: 146,550,731 (GRCm39) S81P probably benign Het
Mos T C 4: 3,870,961 (GRCm39) Y285C probably damaging Het
Mtmr1 A G X: 70,436,939 (GRCm39) N256S probably damaging Het
Or7e174 T A 9: 20,012,505 (GRCm39) M150K probably benign Het
Prl3d2 A C 13: 27,309,999 (GRCm39) T155P probably benign Het
R3hdm2 C T 10: 127,295,353 (GRCm39) S240L probably damaging Het
Semp2l2a T C 8: 13,886,979 (GRCm39) T371A probably damaging Het
Skint6 A T 4: 112,985,088 (GRCm39) probably benign Het
Ubr5 A G 15: 37,992,326 (GRCm39) S1933P probably damaging Het
Veph1 A T 3: 66,066,869 (GRCm39) probably benign Het
Xpo7 A G 14: 70,922,905 (GRCm39) F557S probably damaging Het
Zfp647 T C 15: 76,801,915 (GRCm39) E30G probably damaging Het
Zfp655 A T 5: 145,179,816 (GRCm39) I75L probably benign Het
Zfp981 C A 4: 146,621,709 (GRCm39) Y211* probably null Het
Other mutations in Irf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Irf3 APN 7 44,648,220 (GRCm39) missense possibly damaging 0.95
IGL01935:Irf3 APN 7 44,650,194 (GRCm39) missense probably benign
IGL02334:Irf3 APN 7 44,648,134 (GRCm39) unclassified probably benign
IGL02428:Irf3 APN 7 44,648,163 (GRCm39) missense probably damaging 1.00
R0801:Irf3 UTSW 7 44,650,058 (GRCm39) unclassified probably benign
R2128:Irf3 UTSW 7 44,651,168 (GRCm39) missense probably damaging 1.00
R2981:Irf3 UTSW 7 44,648,124 (GRCm39) splice site probably null
R3746:Irf3 UTSW 7 44,648,297 (GRCm39) missense probably damaging 1.00
R5484:Irf3 UTSW 7 44,649,382 (GRCm39) missense probably damaging 1.00
R8331:Irf3 UTSW 7 44,650,383 (GRCm39) missense probably damaging 1.00
R8692:Irf3 UTSW 7 44,649,889 (GRCm39) nonsense probably null
R9189:Irf3 UTSW 7 44,650,246 (GRCm39) missense possibly damaging 0.51
Posted On 2015-04-16