Incidental Mutation 'R7274:Irf5'
ID565445
Institutional Source Beutler Lab
Gene Symbol Irf5
Ensembl Gene ENSMUSG00000029771
Gene Nameinterferon regulatory factor 5
Synonymsmirf5
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7274 (G1)
Quality Score225.009
Status Validated
Chromosome6
Chromosomal Location29526625-29541871 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 29534040 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 95 (N95S)
Ref Sequence ENSEMBL: ENSMUSP00000004392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004392] [ENSMUST00000163511] [ENSMUST00000164626] [ENSMUST00000164922] [ENSMUST00000167252]
Predicted Effect probably damaging
Transcript: ENSMUST00000004392
AA Change: N95S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004392
Gene: ENSMUSG00000029771
AA Change: N95S

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 probably damaging
Transcript: ENSMUST00000163511
AA Change: N95S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127021
Gene: ENSMUSG00000029771
AA Change: N95S

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 probably benign
Transcript: ENSMUST00000164626
SMART Domains Protein: ENSMUSP00000130548
Gene: ENSMUSG00000029771

DomainStartEndE-ValueType
IRF 10 80 9.78e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000164922
AA Change: N58S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145299
Gene: ENSMUSG00000029771
AA Change: N58S

DomainStartEndE-ValueType
IRF 1 86 7.7e-32 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167252
AA Change: N95S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126273
Gene: ENSMUSG00000029771
AA Change: N95S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (61/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1190005I06Rik T C 8: 120,611,266 S69G possibly damaging Het
Alg12 G A 15: 88,806,707 S337F probably damaging Het
Bcl11a T C 11: 24,163,985 S443P probably damaging Het
C1qtnf4 T C 2: 90,889,541 Y53H probably damaging Het
Cacna1d T A 14: 30,142,643 E454V probably damaging Het
Cacna1h A G 17: 25,378,837 F1761S probably damaging Het
Cacna1i A T 15: 80,376,822 I1344F possibly damaging Het
Cat T C 2: 103,476,890 N33D probably benign Het
Cdh17 C T 4: 11,783,174 Q172* probably null Het
Chrna2 A G 14: 66,149,226 I274V probably benign Het
Cog2 T G 8: 124,535,519 S299A possibly damaging Het
Cpa6 C A 1: 10,409,299 M236I probably damaging Het
Crym T A 7: 120,190,519 Q242L probably benign Het
Ddx60 T C 8: 61,940,108 probably null Het
Epdr1 A T 13: 19,593,288 I180N possibly damaging Het
Fancd2os G A 6: 113,597,890 L52F probably benign Het
Fbxo16 C A 14: 65,321,267 R292S probably benign Het
Fn1 T C 1: 71,628,113 Q820R probably benign Het
Gm4131 T A 14: 62,466,852 Y140F possibly damaging Het
Gm8994 A G 6: 136,329,398 T286A possibly damaging Het
Grin2a T C 16: 9,579,122 R1034G possibly damaging Het
Hypk A G 2: 121,454,324 probably benign Het
Ighmbp2 A G 19: 3,264,951 V823A probably benign Het
Kdr A T 5: 75,964,700 M379K probably benign Het
Kif19a G T 11: 114,765,455 probably benign Het
Klhdc4 T C 8: 121,799,658 probably null Het
Lama2 A T 10: 27,119,980 I1717N probably damaging Het
Lama4 A T 10: 39,092,299 Q1479L probably benign Het
Lgr5 T A 10: 115,452,505 T745S probably damaging Het
Lifr T A 15: 7,167,059 probably null Het
Llgl1 C T 11: 60,705,986 R138C possibly damaging Het
Mccc1 A T 3: 35,989,856 V246E probably damaging Het
Mdn1 T A 4: 32,725,944 L2621H probably benign Het
Mecr C A 4: 131,853,778 A80D probably damaging Het
Mia2 A G 12: 59,108,119 E206G probably damaging Het
Nubpl A G 12: 52,132,420 probably benign Het
Obscn C T 11: 59,133,227 R539H probably damaging Het
Olfr1100 A G 2: 86,978,523 V91A probably benign Het
Olfr733 T A 14: 50,298,422 T296S probably benign Het
Pde5a A T 3: 122,855,246 K838* probably null Het
Pgm3 A G 9: 86,562,597 L295P probably damaging Het
Pkp2 T C 16: 16,246,929 L439P possibly damaging Het
Polr1a T A 6: 71,920,516 C205* probably null Het
Rab3gap1 T A 1: 127,927,512 I429K probably benign Het
Rassf8 T C 6: 145,815,569 V207A probably benign Het
Sacs T A 14: 61,214,081 D4525E possibly damaging Het
Sec24a A T 11: 51,707,255 L864Q probably damaging Het
Spats2l C A 1: 57,879,513 Y35* probably null Het
Sptlc2 A T 12: 87,341,606 D367E probably benign Het
Ssc4d T C 5: 135,967,956 D97G possibly damaging Het
Tjp1 A G 7: 65,527,652 Y3H possibly damaging Het
Tkt T A 14: 30,569,145 probably null Het
Trim60 T A 8: 65,000,481 N372I possibly damaging Het
Trpm2 T C 10: 77,923,555 N1132D probably benign Het
Tsc22d1 T C 14: 76,416,714 I211T probably damaging Het
Ttc39b T C 4: 83,261,851 K132E possibly damaging Het
Ttn C T 2: 76,723,588 V30924I probably damaging Het
Tubgcp6 G A 15: 89,102,970 Q1267* probably null Het
Zfp30 C A 7: 29,792,618 T180N probably benign Het
Zp2 A G 7: 120,132,391 *714R probably null 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
R0099:Irf5 UTSW 6 29533967 missense probably damaging 0.98
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
R7832:Irf5 UTSW 6 29535462 missense probably benign
R7915:Irf5 UTSW 6 29535462 missense probably benign
Predicted Primers PCR Primer
(F):5'- AGCATTGACTCCTATAGGACAAG -3'
(R):5'- TGCGATCATGACCTAGCACAG -3'

Sequencing Primer
(F):5'- CTCCTATAGGACAAGAGAGTTGC -3'
(R):5'- TGACCTAGCACAGCCCCTG -3'
Posted On2019-06-26