Incidental Mutation 'R0099:Irf5'
ID33149
Institutional Source Beutler Lab
Gene Symbol Irf5
Ensembl Gene ENSMUSG00000029771
Gene Nameinterferon regulatory factor 5
Synonymsmirf5
MMRRC Submission 038385-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0099 (G1)
Quality Score210
Status Validated (trace)
Chromosome6
Chromosomal Location29526625-29541871 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 29533967 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 34 (T34A)
Ref Sequence ENSEMBL: ENSMUSP00000145299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004392] [ENSMUST00000163511] [ENSMUST00000164626] [ENSMUST00000164922] [ENSMUST00000167252]
Predicted Effect possibly damaging
Transcript: ENSMUST00000004392
AA Change: T71A

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000004392
Gene: ENSMUSG00000029771
AA Change: T71A

DomainStartEndE-ValueType
IRF 10 123 6.39e-63 SMART
low complexity region 181 203 N/A INTRINSIC
IRF-3 246 430 1.67e-89 SMART
low complexity region 465 478 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000163511
AA Change: T71A

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127021
Gene: ENSMUSG00000029771
AA Change: T71A

DomainStartEndE-ValueType
IRF 10 123 6.39e-63 SMART
low complexity region 181 203 N/A INTRINSIC
IRF-3 246 430 1.67e-89 SMART
low complexity region 465 478 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000164626
AA Change: T71A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130548
Gene: ENSMUSG00000029771
AA Change: T71A

DomainStartEndE-ValueType
IRF 10 80 9.78e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000164922
AA Change: T34A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145299
Gene: ENSMUSG00000029771
AA Change: T34A

DomainStartEndE-ValueType
IRF 1 86 7.7e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167252
AA Change: T71A

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126273
Gene: ENSMUSG00000029771
AA Change: T71A

DomainStartEndE-ValueType
IRF 10 123 2.8e-65 SMART
low complexity region 181 203 N/A INTRINSIC
IRF-3 246 430 1.3e-93 SMART
Meta Mutation Damage Score 0.4075 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 100% (65/65)
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 factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Alternative promoter use and alternative splicing result in multiple transcript variants, and a 30-nt indel polymorphism (SNP rs60344245) can result in loss of a 10-aa segment. [provided by RefSeq, Dec 2016]
PHENOTYPE: Homozygous null mice exhibit resistance to lethal shock with a marked decrease in the serum levels of proinflammatory cytokines, but normal B cell development. Mice homozygous for another allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018M24Rik C T 14: 50,896,722 probably benign Het
Acad10 A C 5: 121,621,290 D1043E probably damaging Het
Adamtsl4 C T 3: 95,684,139 G173R probably benign Het
Astn1 G T 1: 158,502,151 S192I probably damaging Het
Atg2a T A 19: 6,252,789 V1010E probably damaging Het
C130079G13Rik A C 3: 59,936,435 K183N probably benign Het
Col11a2 A G 17: 34,049,674 E311G probably damaging Het
Col4a3 A C 1: 82,717,993 E1638A probably benign Het
Cstf2t A G 19: 31,083,831 R256G probably benign Het
Cyp4a12a T C 4: 115,326,672 L225P probably damaging Het
Diexf A G 1: 193,128,470 L75P probably damaging Het
Dnah5 G A 15: 28,239,934 R479H probably damaging Het
Dsg3 A G 18: 20,540,022 I917V probably benign Het
Fam76a G T 4: 132,910,787 probably benign Het
Fras1 T A 5: 96,614,917 probably null Het
Gli1 A G 10: 127,336,006 V293A probably damaging Het
Gm10782 T A 13: 56,363,143 noncoding transcript Het
Greb1l A G 18: 10,509,158 E490G probably damaging Het
Hydin G A 8: 110,589,561 G4362R probably damaging Het
Ica1 A T 6: 8,749,778 probably benign Het
Ikzf4 T A 10: 128,634,197 I485F probably damaging Het
Krt81 A T 15: 101,463,521 C59* probably null Het
Kynu T A 2: 43,629,053 probably null Het
Ly6g6c T C 17: 35,068,915 V61A probably damaging Het
Manea A C 4: 26,328,104 I312M probably damaging Het
Micall1 G T 15: 79,131,901 probably benign Het
Mthfs A T 9: 89,226,163 probably benign Het
Myh4 A G 11: 67,259,347 T1877A probably benign Het
Myo3a T C 2: 22,245,598 I92T probably benign Het
Nepn A G 10: 52,401,085 S306G probably damaging Het
Nol8 T C 13: 49,672,689 V995A probably benign Het
Olfr1453 A G 19: 13,027,801 F176S probably damaging Het
Olfr1458 T A 19: 13,103,140 T49S probably benign Het
Olfr160 A T 9: 37,711,454 V275E probably damaging Het
Olfr967 A G 9: 39,750,661 I92V possibly damaging Het
Pde1a T A 2: 79,868,313 probably null Het
Phf14 A G 6: 11,987,697 probably benign Het
Plekhh2 C T 17: 84,591,672 Q1026* probably null Het
Polr2b T A 5: 77,320,950 probably benign Het
Ppp1r36 G T 12: 76,436,282 probably null Het
Prdm14 A T 1: 13,118,945 C392S probably damaging Het
Rabgap1l A G 1: 160,682,116 S436P possibly damaging Het
Rfc2 A T 5: 134,595,281 probably null Het
Rfx4 A T 10: 84,894,304 M437L probably benign Het
Rgs17 T A 10: 5,842,583 R74S probably benign Het
Rnf139 C A 15: 58,899,415 L430I probably damaging Het
Sgsm1 C A 5: 113,274,360 probably benign Het
Skint6 T A 4: 112,811,501 T1126S possibly damaging Het
Slc15a2 T C 16: 36,753,036 E602G probably damaging Het
Stpg2 T C 3: 139,243,193 probably benign Het
Sycp2l T C 13: 41,129,525 probably benign Het
Tlr11 A T 14: 50,360,818 N87I probably benign Het
Tril A G 6: 53,818,363 F625L probably damaging Het
Ube3c T A 5: 29,607,064 V434E probably damaging Het
Usp34 G A 11: 23,363,111 G533R probably damaging Het
Zfp93 G T 7: 24,275,475 R295L probably benign Het
Other mutations in Irf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01131:Irf5 APN 6 29536103 missense probably damaging 1.00
IGL02405:Irf5 APN 6 29535761 missense probably damaging 0.99
IGL02953:Irf5 APN 6 29536672 missense possibly damaging 0.76
R0116:Irf5 UTSW 6 29536109 missense probably damaging 1.00
R0482:Irf5 UTSW 6 29535370 missense probably benign 0.00
R1827:Irf5 UTSW 6 29536673 missense possibly damaging 0.67
R1938:Irf5 UTSW 6 29536739 missense probably benign 0.05
R3969:Irf5 UTSW 6 29536782 missense probably benign 0.00
R4408:Irf5 UTSW 6 29534001 unclassified probably null
R4447:Irf5 UTSW 6 29535942 missense probably damaging 1.00
R4828:Irf5 UTSW 6 29531141 missense probably damaging 0.99
R5555:Irf5 UTSW 6 29531146 missense probably benign 0.00
R5891:Irf5 UTSW 6 29529425 intron probably benign
R6148:Irf5 UTSW 6 29535959 missense probably damaging 1.00
R7084:Irf5 UTSW 6 29535877 missense probably damaging 0.98
R7274:Irf5 UTSW 6 29534040 missense probably damaging 1.00
R7832:Irf5 UTSW 6 29535462 missense probably benign
R7915:Irf5 UTSW 6 29535462 missense probably benign
Predicted Primers PCR Primer
(F):5'- CACCTAATGAGCCTGTCTGGCAAG -3'
(R):5'- GTAATGAAGAAGCACCTGGAGCCC -3'

Sequencing Primer
(F):5'- TCTGGCAAGGCTTAGCCTG -3'
(R):5'- GTACCCAGAGTTCATAGCTTTCAGG -3'
Posted On2013-05-09