Incidental Mutation 'IGL02428:Irf3'
ID 292984
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 # IGL02428
Quality Score
Status
Chromosome 7
Chromosomal Location 44647072-44652272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 44648163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 9 (L9F)
Ref Sequence ENSEMBL: ENSMUSP00000146383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003284] [ENSMUST00000003290] [ENSMUST00000085383] [ENSMUST00000107834] [ENSMUST00000207128] [ENSMUST00000207521] [ENSMUST00000209066] [ENSMUST00000207443] [ENSMUST00000207755] [ENSMUST00000207342] [ENSMUST00000211735]
AlphaFold P70671
Predicted Effect probably damaging
Transcript: ENSMUST00000003284
AA Change: L9F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003284
Gene: ENSMUSG00000003184
AA Change: L9F

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 damaging
Transcript: ENSMUST00000107834
AA Change: L9F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103465
Gene: ENSMUSG00000003184
AA Change: L9F

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 probably damaging
Transcript: ENSMUST00000207521
AA Change: L9F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000209066
AA Change: L9F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207555
Predicted Effect probably benign
Transcript: ENSMUST00000207443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208906
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208767
Predicted Effect probably benign
Transcript: ENSMUST00000207755
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208128
Predicted Effect probably benign
Transcript: ENSMUST00000208958
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207213
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208143
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207476
Predicted Effect probably benign
Transcript: ENSMUST00000207342
Predicted Effect probably benign
Transcript: ENSMUST00000211735
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024G13Rik T C 14: 32,110,205 (GRCm39) probably benign Het
AB124611 C T 9: 21,440,221 (GRCm39) S69L possibly damaging Het
Abca6 G A 11: 110,069,618 (GRCm39) A1566V possibly damaging Het
Ahnak A G 19: 8,992,197 (GRCm39) I4494V possibly damaging Het
Ascc3 T A 10: 50,721,791 (GRCm39) Y2081* probably null Het
Cdc42bpb T C 12: 111,289,561 (GRCm39) T423A probably benign Het
Cdh6 T A 15: 13,064,516 (GRCm39) I125F possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Csmd2 T C 4: 128,368,609 (GRCm39) L1845P possibly damaging Het
Epha4 A G 1: 77,483,385 (GRCm39) V208A possibly damaging Het
Fanci A G 7: 79,094,264 (GRCm39) probably benign Het
Fezf2 T C 14: 12,344,494 (GRCm38) E231G probably damaging Het
Flnc A G 6: 29,451,484 (GRCm39) D1566G probably damaging Het
Gm11565 A G 11: 99,805,811 (GRCm39) T68A probably benign Het
Ifng G A 10: 118,281,159 (GRCm39) R154H probably damaging Het
Il1r1 G A 1: 40,352,392 (GRCm39) E521K possibly damaging Het
Jade1 T G 3: 41,568,374 (GRCm39) I814S probably benign Het
Kcnh1 G A 1: 192,019,851 (GRCm39) W365* probably null Het
Kif16b T C 2: 142,514,280 (GRCm39) T1209A possibly damaging Het
Mcur1 A T 13: 43,695,203 (GRCm39) S324T probably damaging Het
Mgat2 C A 12: 69,231,558 (GRCm39) A44E probably benign Het
Nox1 A G X: 133,008,583 (GRCm39) probably benign Het
Oga A T 19: 45,753,940 (GRCm39) W645R probably damaging Het
Or52ae7 A T 7: 103,119,590 (GRCm39) I115F probably benign Het
Or5ak23 A G 2: 85,244,537 (GRCm39) S229P probably benign Het
Pcnt A T 10: 76,265,090 (GRCm39) I340N probably damaging Het
Pde11a T C 2: 75,877,189 (GRCm39) E760G possibly damaging Het
Per3 C T 4: 151,102,674 (GRCm39) probably null Het
Rabep1 G A 11: 70,808,306 (GRCm39) A421T probably benign Het
Rint1 C T 5: 23,999,450 (GRCm39) Q80* probably null Het
Rnaset2b G A 17: 7,248,568 (GRCm39) probably null Het
Sccpdh T C 1: 179,508,070 (GRCm39) Y237H probably benign Het
Scn10a T A 9: 119,520,628 (GRCm39) T91S probably damaging Het
Spock1 A G 13: 57,592,245 (GRCm39) probably benign Het
Stat1 A G 1: 52,182,125 (GRCm39) probably benign Het
Svil A G 18: 5,118,203 (GRCm39) E2212G probably damaging Het
Taok1 T A 11: 77,440,103 (GRCm39) R635W probably benign Het
Vmn1r39 A G 6: 66,781,946 (GRCm39) I124T probably benign Het
Vmn2r32 T C 7: 7,477,283 (GRCm39) I369M probably benign 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
IGL02647:Irf3 APN 7 44,649,800 (GRCm39) missense probably benign 0.01
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