Incidental Mutation 'IGL02283:Irf9'
ID289903
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: 0.159) question?
Stock #IGL02283
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 T C 10: 83,495,895 Y682C probably benign Het
Ank1 G A 8: 23,119,434 probably null Het
Arhgap1 A G 2: 91,670,776 N399S probably damaging Het
Atp8a2 A T 14: 60,016,799 I511N possibly damaging Het
Birc6 T A 17: 74,599,940 C1428S probably benign Het
Col18a1 T C 10: 77,113,109 T190A possibly damaging Het
Cpd A T 11: 76,840,425 D318E probably benign Het
Dync2h1 A T 9: 7,125,912 V1898E probably damaging Het
Gon4l T C 3: 88,895,364 M1095T probably damaging Het
Gypa G A 8: 80,494,092 probably benign Het
Macf1 T C 4: 123,471,375 T1633A probably benign Het
Mars2 T C 1: 55,238,774 V512A probably damaging Het
Myo9a A G 9: 59,871,673 N1571D probably benign Het
Myrfl T C 10: 116,777,360 D846G probably benign Het
Olfr10 A G 11: 49,318,335 D263G probably benign Het
Olfr1423 A G 19: 12,035,855 S296P possibly damaging Het
Olfr319 A T 11: 58,702,276 T192S probably damaging Het
Olfr57 T C 10: 79,035,545 S250P probably damaging Het
Rprd2 A T 3: 95,765,503 S863T probably damaging Het
Sdf4 T A 4: 156,008,836 N208K probably benign Het
Sftpd A T 14: 41,172,466 V332D probably benign Het
Sh2b3 T C 5: 121,818,655 D321G probably benign Het
Slc45a2 T A 15: 11,001,182 N122K probably damaging Het
Slk T A 19: 47,641,993 F1170Y probably damaging Het
Spata7 A C 12: 98,658,258 T140P probably damaging Het
Vmn2r117 A G 17: 23,475,382 L497S probably damaging Het
Other mutations in Irf9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01285:Irf9 APN 14 55607601 missense probably damaging 0.98
IGL02317: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
Posted On2015-04-16