Incidental Mutation 'IGL02317:Irf9'
ID288059
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Irf9
Ensembl Gene ENSMUSG00000002325
Gene Nameinterferon regulatory factor 9
Synonymsp48, Isgf3g, Irf-9
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.128) question?
Stock #IGL02317
Quality Score
Status
Chromosome14
Chromosomal Location55603571-55610030 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 55607739 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 352 (R352H)
Ref Sequence ENSEMBL: ENSMUSP00000120525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019443] [ENSMUST00000130697] [ENSMUST00000134863] [ENSMUST00000138037]
Predicted Effect probably benign
Transcript: ENSMUST00000019443
SMART Domains Protein: ENSMUSP00000019443
Gene: ENSMUSG00000047098

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Pfam:PUB 68 148 7.1e-17 PFAM
low complexity region 262 294 N/A INTRINSIC
ZnF_RBZ 298 322 2.56e-1 SMART
ZnF_RBZ 346 370 6.93e-5 SMART
ZnF_RBZ 405 429 4.86e-1 SMART
Pfam:HOIP-UBA 477 622 2.4e-54 PFAM
Blast:RING 693 741 7e-25 BLAST
IBR 773 835 3.18e-14 SMART
IBR 847 924 5.35e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126269
Predicted Effect probably damaging
Transcript: ENSMUST00000130697
AA Change: R286H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120359
Gene: ENSMUSG00000002325
AA Change: R286H

DomainStartEndE-ValueType
IRF 5 117 1.19e-53 SMART
low complexity region 158 182 N/A INTRINSIC
low complexity region 185 194 N/A INTRINSIC
IRF-3 211 377 1.13e-59 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133903
Predicted Effect probably damaging
Transcript: ENSMUST00000134863
AA Change: R352H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120525
Gene: ENSMUSG00000002325
AA Change: R352H

DomainStartEndE-ValueType
low complexity region 34 58 N/A INTRINSIC
IRF 71 183 1.19e-53 SMART
low complexity region 224 248 N/A INTRINSIC
low complexity region 251 260 N/A INTRINSIC
IRF-3 277 443 1.13e-59 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136109
Predicted Effect probably damaging
Transcript: ENSMUST00000138037
AA Change: R304H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119477
Gene: ENSMUSG00000002325
AA Change: R304H

DomainStartEndE-ValueType
IRF 23 135 1.19e-53 SMART
low complexity region 176 200 N/A INTRINSIC
low complexity region 203 212 N/A INTRINSIC
IRF-3 229 395 1.13e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140178
SMART Domains Protein: ENSMUSP00000118215
Gene: ENSMUSG00000047098

DomainStartEndE-ValueType
PDB:4OYJ|M 2 85 1e-29 PDB
low complexity region 164 196 N/A INTRINSIC
ZnF_RBZ 200 224 2.56e-1 SMART
ZnF_RBZ 248 272 6.93e-5 SMART
ZnF_RBZ 307 331 4.86e-1 SMART
Pfam:HOIP-UBA 369 468 1.1e-31 PFAM
Blast:RING 539 587 9e-25 BLAST
IBR 619 681 3.18e-14 SMART
IBR 693 770 5.35e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145680
Predicted Effect probably benign
Transcript: ENSMUST00000226275
Predicted Effect probably benign
Transcript: ENSMUST00000227708
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene display an apparently normal phenotype. However, antivirus response induced by Ifn alfpha and Ifn gamma are impaired. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019M22Rik T C 12: 96,047,006 noncoding transcript Het
Aak1 C T 6: 86,956,300 P418S possibly damaging Het
Abca5 T A 11: 110,327,761 Q93L probably benign Het
Arhgap22 G T 14: 33,359,273 V209L probably damaging Het
Atp6v1h G T 1: 5,084,470 R7L possibly damaging Het
Ccdc86 T C 19: 10,943,192 Q420R possibly damaging Het
Cep85 C T 4: 134,155,811 G256R probably damaging Het
Csmd2 T C 4: 128,463,727 probably benign Het
Dck T C 5: 88,774,083 Y135H probably damaging Het
Dicer1 T C 12: 104,697,020 E1434G probably damaging Het
Dst C T 1: 34,295,163 T4824I probably damaging Het
Fam20c G A 5: 138,806,360 R404H probably damaging Het
Fat1 G A 8: 45,025,818 A2611T probably benign Het
Fbxl13 C T 5: 21,522,234 C555Y probably benign Het
Gm8298 A G 3: 59,876,987 N294D probably benign Het
Gprc6a C A 10: 51,620,953 R323L probably benign Het
Grik2 A G 10: 49,422,615 F50L probably benign Het
Ibsp A G 5: 104,302,466 Y50C probably damaging Het
Il16 T A 7: 83,666,889 H437L probably damaging Het
Jph1 T C 1: 17,003,923 T624A probably benign Het
Lama5 T C 2: 180,191,319 Y1574C probably damaging Het
Lrrc26 A G 2: 25,290,302 N105S probably damaging Het
Megf8 C A 7: 25,363,788 T2523K probably damaging Het
Nckap1l A G 15: 103,461,578 I135V probably benign Het
Olfr1033 T C 2: 86,041,569 S85P probably damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr71 T C 4: 43,706,172 Y132C probably damaging Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Oma1 A G 4: 103,319,037 probably benign Het
Opa1 T G 16: 29,615,166 probably null Het
Rab11b C T 17: 33,749,816 A43T probably damaging Het
Rabl2 A T 15: 89,584,289 N133K probably damaging Het
Scn10a C T 9: 119,638,555 V840I probably benign Het
Spata31d1b T C 13: 59,718,040 S1001P probably damaging Het
Tbc1d8 T C 1: 39,376,904 E896G probably benign Het
Ube2o T C 11: 116,541,563 E859G probably damaging Het
Vmn1r197 A G 13: 22,327,903 probably benign Het
Vmn2r58 A G 7: 41,837,341 I710T possibly damaging Het
Zmynd8 T C 2: 165,820,572 T533A possibly damaging Het
Other mutations in Irf9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01285:Irf9 APN 14 55607601 missense probably damaging 0.98
IGL02283:Irf9 APN 14 55607739 missense probably damaging 1.00
IGL02407:Irf9 APN 14 55605221 missense possibly damaging 0.92
Long_lost UTSW 14 55605910 splice site probably null
R0233:Irf9 UTSW 14 55606094 missense probably benign 0.00
R0233:Irf9 UTSW 14 55606094 missense probably benign 0.00
R1959:Irf9 UTSW 14 55607717 missense possibly damaging 0.93
R2324:Irf9 UTSW 14 55605910 splice site probably null
R4669:Irf9 UTSW 14 55605766 missense probably benign
R4882:Irf9 UTSW 14 55609039 utr 3 prime probably benign
R5393:Irf9 UTSW 14 55606457 unclassified probably benign
R6072:Irf9 UTSW 14 55605827 missense probably damaging 1.00
R6277:Irf9 UTSW 14 55607652 missense probably benign 0.04
R6337:Irf9 UTSW 14 55606342 missense possibly damaging 0.62
R6545:Irf9 UTSW 14 55605227 missense probably damaging 1.00
R6993:Irf9 UTSW 14 55608957 missense probably benign 0.06
RF014:Irf9 UTSW 14 55605877 nonsense probably null
Posted On2015-04-16