Incidental Mutation 'R6545:Irf9'
ID 521142
Institutional Source Beutler Lab
Gene Symbol Irf9
Ensembl Gene ENSMUSG00000002325
Gene Name interferon regulatory factor 9
Synonyms p48, Isgf3g, Irf-9
MMRRC Submission 044671-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.210) question?
Stock # R6545 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 55841442-55847487 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55842684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 59 (F59L)
Ref Sequence ENSEMBL: ENSMUSP00000120359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019443] [ENSMUST00000130697] [ENSMUST00000134863] [ENSMUST00000138037]
AlphaFold Q61179
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: F59L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120359
Gene: ENSMUSG00000002325
AA Change: F59L

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: F125L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120525
Gene: ENSMUSG00000002325
AA Change: F125L

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: F77L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119477
Gene: ENSMUSG00000002325
AA Change: F77L

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 probably benign
Transcript: ENSMUST00000227708
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145680
Predicted Effect probably benign
Transcript: ENSMUST00000226275
Meta Mutation Damage Score 0.9415 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 95% (42/44)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 C T 4: 126,348,145 (GRCm39) A58T possibly damaging Het
Ago4 T A 4: 126,405,811 (GRCm39) Q366L probably benign Het
Card10 C A 15: 78,661,010 (GRCm39) G950V probably damaging Het
Ceacam1 A T 7: 25,173,279 (GRCm39) V303D probably damaging Het
Cfap54 C T 10: 92,672,319 (GRCm39) R2917H probably benign Het
Cit A G 5: 115,984,493 (GRCm39) S22G probably null Het
Cog4 A G 8: 111,607,577 (GRCm39) E666G probably damaging Het
Crocc2 A G 1: 93,140,659 (GRCm39) D1103G probably benign Het
Cttnbp2 A T 6: 18,405,278 (GRCm39) probably null Het
Dctn3 T C 4: 41,723,084 (GRCm39) E16G probably damaging Het
Dnah6 A G 6: 73,021,715 (GRCm39) S3536P probably damaging Het
Eef2 T A 10: 81,016,948 (GRCm39) I675N probably damaging Het
Gga3 A G 11: 115,477,995 (GRCm39) F531S possibly damaging Het
Gm19410 A G 8: 36,257,652 (GRCm39) R697G possibly damaging Het
Gm3173 T A 14: 15,728,395 (GRCm39) M18K possibly damaging Het
Gm5800 A T 14: 51,949,419 (GRCm39) S175R possibly damaging Het
Gria2 T C 3: 80,648,451 (GRCm39) K95R probably damaging Het
Gstm6 A G 3: 107,849,681 (GRCm39) I76T probably damaging Het
Harbi1 T G 2: 91,542,640 (GRCm39) Y34D probably damaging Het
Hectd2 C A 19: 36,564,778 (GRCm39) Q20K probably benign Het
Inpp5f C A 7: 128,296,280 (GRCm39) A250D possibly damaging Het
Itgam T A 7: 127,707,044 (GRCm39) M625K probably damaging Het
Kcnh5 C T 12: 75,054,432 (GRCm39) R504Q probably damaging Het
Lama2 T C 10: 27,052,793 (GRCm39) T1389A probably benign Het
Lin54 T A 5: 100,632,996 (GRCm39) probably null Het
Mettl23 A G 11: 116,740,042 (GRCm39) D171G possibly damaging Het
Mgll A G 6: 88,802,685 (GRCm39) N296S probably benign Het
Mpv17 T A 5: 31,302,041 (GRCm39) probably benign Het
Myof A T 19: 37,930,745 (GRCm39) M1001K possibly damaging Het
Myom1 A T 17: 71,389,300 (GRCm39) Q850L probably benign Het
Or10ab5 A T 7: 108,245,662 (GRCm39) N40K probably damaging Het
Pias2 A G 18: 77,217,781 (GRCm39) I328V possibly damaging Het
Polh G A 17: 46,493,685 (GRCm39) P311S possibly damaging Het
Prss34 A T 17: 25,517,809 (GRCm39) R61S probably benign Het
Rassf2 A T 2: 131,840,237 (GRCm39) M280K probably damaging Het
Rpsa A G 9: 119,959,323 (GRCm39) H47R probably benign Het
Rtp3 A G 9: 110,815,894 (GRCm39) V219A possibly damaging Het
Smarcc2 T C 10: 128,319,997 (GRCm39) I790T probably benign Het
Stag3 A G 5: 138,296,614 (GRCm39) T491A possibly damaging Het
Svil C T 18: 5,108,621 (GRCm39) H2007Y probably benign Het
Togaram1 T G 12: 65,024,981 (GRCm39) C750G possibly damaging Het
Vmn2r13 A T 5: 109,304,806 (GRCm39) probably null Het
Vmn2r4 A T 3: 64,313,777 (GRCm39) D401E possibly damaging Het
Wdr97 C T 15: 76,247,578 (GRCm39) R1585C probably damaging Het
Wsb1 A T 11: 79,141,881 (GRCm39) D45E probably damaging Het
Zfp808 T A 13: 62,319,709 (GRCm39) Y313N probably benign Het
Other mutations in Irf9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01285:Irf9 APN 14 55,845,058 (GRCm39) missense probably damaging 0.98
IGL02283:Irf9 APN 14 55,845,196 (GRCm39) missense probably damaging 1.00
IGL02317:Irf9 APN 14 55,845,196 (GRCm39) missense probably damaging 1.00
IGL02407:Irf9 APN 14 55,842,678 (GRCm39) missense possibly damaging 0.92
Adjunctive UTSW 14 55,843,255 (GRCm39) nonsense probably null
Long_lost UTSW 14 55,843,367 (GRCm39) splice site probably null
supportive UTSW 14 55,846,247 (GRCm39) missense probably damaging 1.00
R0233:Irf9 UTSW 14 55,843,551 (GRCm39) missense probably benign 0.00
R0233:Irf9 UTSW 14 55,843,551 (GRCm39) missense probably benign 0.00
R1959:Irf9 UTSW 14 55,845,174 (GRCm39) missense possibly damaging 0.93
R2324:Irf9 UTSW 14 55,843,367 (GRCm39) splice site probably null
R4669:Irf9 UTSW 14 55,843,223 (GRCm39) missense probably benign
R4882:Irf9 UTSW 14 55,846,496 (GRCm39) utr 3 prime probably benign
R5393:Irf9 UTSW 14 55,843,914 (GRCm39) unclassified probably benign
R6072:Irf9 UTSW 14 55,843,284 (GRCm39) missense probably damaging 1.00
R6277:Irf9 UTSW 14 55,845,109 (GRCm39) missense probably benign 0.04
R6337:Irf9 UTSW 14 55,843,799 (GRCm39) missense possibly damaging 0.62
R6993:Irf9 UTSW 14 55,846,414 (GRCm39) missense probably benign 0.06
R7956:Irf9 UTSW 14 55,846,481 (GRCm39) missense probably benign 0.00
R8145:Irf9 UTSW 14 55,843,255 (GRCm39) nonsense probably null
R8326:Irf9 UTSW 14 55,843,210 (GRCm39) missense probably benign 0.02
R9002:Irf9 UTSW 14 55,845,140 (GRCm39) missense possibly damaging 0.79
R9293:Irf9 UTSW 14 55,846,247 (GRCm39) missense probably damaging 1.00
R9672:Irf9 UTSW 14 55,842,129 (GRCm39) missense probably benign 0.05
R9747:Irf9 UTSW 14 55,844,045 (GRCm39) missense probably benign 0.00
RF014:Irf9 UTSW 14 55,843,334 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCAGGCAAAGTACGCTGCAC -3'
(R):5'- ATGTCTCTCCAAAAGACATGGTTGG -3'

Sequencing Primer
(F):5'- GTACGCTGCACCCGAAAG -3'
(R):5'- CATTACAGATGGTTGTGAGCCACC -3'
Posted On 2018-06-06