Incidental Mutation 'IGL01743:Irf1'
ID 152904
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Irf1
Ensembl Gene ENSMUSG00000018899
Gene Name interferon regulatory factor 1
Synonyms Irf-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01743
Quality Score
Status
Chromosome 11
Chromosomal Location 53660841-53669200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53665277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 218 (M218K)
Ref Sequence ENSEMBL: ENSMUSP00000104550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019043] [ENSMUST00000108920] [ENSMUST00000108922] [ENSMUST00000123376] [ENSMUST00000133291] [ENSMUST00000140866] [ENSMUST00000138913] [ENSMUST00000142221] [ENSMUST00000170390]
AlphaFold P15314
Predicted Effect probably benign
Transcript: ENSMUST00000019043
AA Change: M218K

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000019043
Gene: ENSMUSG00000018899
AA Change: M218K

DomainStartEndE-ValueType
IRF 1 114 6.75e-62 SMART
low complexity region 120 138 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108920
AA Change: M218K

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000104548
Gene: ENSMUSG00000018899
AA Change: M218K

DomainStartEndE-ValueType
IRF 1 114 6.75e-62 SMART
low complexity region 120 138 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108922
AA Change: M218K

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104550
Gene: ENSMUSG00000018899
AA Change: M218K

DomainStartEndE-ValueType
IRF 1 114 6.75e-62 SMART
low complexity region 120 138 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123376
SMART Domains Protein: ENSMUSP00000122101
Gene: ENSMUSG00000018899

DomainStartEndE-ValueType
IRF 1 114 6.75e-62 SMART
low complexity region 120 138 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128336
Predicted Effect probably benign
Transcript: ENSMUST00000133291
SMART Domains Protein: ENSMUSP00000116656
Gene: ENSMUSG00000018899

DomainStartEndE-ValueType
IRF 1 114 6.75e-62 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153054
Predicted Effect probably benign
Transcript: ENSMUST00000140866
SMART Domains Protein: ENSMUSP00000114315
Gene: ENSMUSG00000018899

DomainStartEndE-ValueType
IRF 1 114 6.75e-62 SMART
low complexity region 120 138 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138913
SMART Domains Protein: ENSMUSP00000118314
Gene: ENSMUSG00000018899

DomainStartEndE-ValueType
IRF 1 62 2.41e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142221
SMART Domains Protein: ENSMUSP00000118795
Gene: ENSMUSG00000018899

DomainStartEndE-ValueType
Pfam:IRF 5 48 4.8e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170390
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IRF1 encodes interferon regulatory factor 1, a member of the interferon regulatory transcription factor (IRF) family. IRF1 serves as an activator of interferons alpha and beta transcription, and in mouse it has been shown to be required for double-stranded RNA induction of these genes. IRF1 also functions as a transcription activator of genes induced by interferons alpha, beta, and gamma. Further, IRF1 has been shown to play roles in regulating apoptosis and tumor-suppressoion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous disruption of this gene leads to reduced CD8+ T cell number and altered response to viral infection and may cause alterations in cytokine levels, CD4+ cell subset homeostasis, blood vessel healing, DNA repair, and susceptibility to induced lymphomas, arthritis and autoimmune encephalitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A T 7: 45,646,238 (GRCm39) N750K probably benign Het
Ackr2 T C 9: 121,738,566 (GRCm39) C314R probably benign Het
Adar C T 3: 89,652,747 (GRCm39) Q210* probably null Het
Aifm1 A G X: 47,569,153 (GRCm39) probably benign Het
Aldoa G T 7: 126,395,875 (GRCm39) D198E probably damaging Het
Ampd1 T A 3: 103,002,201 (GRCm39) probably benign Het
Arhgef18 G T 8: 3,414,697 (GRCm39) C25F probably benign Het
Btnl1 T C 17: 34,604,659 (GRCm39) I480T probably damaging Het
Capn9 T C 8: 125,318,508 (GRCm39) S125P probably benign Het
Cd40lg T A X: 56,257,592 (GRCm39) Y26* probably null Het
Cdc42bpg G T 19: 6,359,853 (GRCm39) probably null Het
Cdh10 T C 15: 18,986,855 (GRCm39) L362P probably benign Het
Dhx16 A G 17: 36,199,000 (GRCm39) D782G probably damaging Het
Dnajb14 G T 3: 137,611,761 (GRCm39) V320L possibly damaging Het
Dpy19l1 C T 9: 24,396,365 (GRCm39) R117Q probably damaging Het
Ercc6 T C 14: 32,274,561 (GRCm39) V568A probably damaging Het
Faf2 T C 13: 54,789,311 (GRCm39) probably null Het
Fbrsl1 C T 5: 110,529,506 (GRCm39) V223M probably damaging Het
Fcrl5 T C 3: 87,351,598 (GRCm39) V282A probably damaging Het
Fxr2 C T 11: 69,543,448 (GRCm39) L650F possibly damaging Het
Gabrq A G X: 71,880,448 (GRCm39) M314V probably benign Het
Gnas T A 2: 174,140,125 (GRCm39) Y157* probably null Het
Gtf2i T C 5: 134,315,747 (GRCm39) E175G probably damaging Het
Gtf3c1 A C 7: 125,262,587 (GRCm39) Y1091D probably damaging Het
Heatr5b G A 17: 79,132,069 (GRCm39) Q345* probably null Het
Hydin T C 8: 111,319,408 (GRCm39) V4437A possibly damaging Het
Idi2 T A 13: 9,008,578 (GRCm39) L112Q probably damaging Het
Ift80 C T 3: 68,869,629 (GRCm39) V221M probably benign Het
Il16 A G 7: 83,301,507 (GRCm39) F205S probably benign Het
Itga8 T C 2: 12,270,144 (GRCm39) N114S probably benign Het
Itgae T C 11: 73,002,585 (GRCm39) V114A probably benign Het
Klhdc10 A G 6: 30,441,933 (GRCm39) probably null Het
Krt78 C A 15: 101,859,333 (GRCm39) R288L probably benign Het
Lars2 A T 9: 123,282,313 (GRCm39) L632F probably damaging Het
Mpdz T C 4: 81,235,919 (GRCm39) D1220G probably damaging Het
Msl1 C T 11: 98,696,245 (GRCm39) T597I probably damaging Het
Mtor T C 4: 148,615,070 (GRCm39) probably benign Het
Myo1b T C 1: 51,821,179 (GRCm39) T435A probably damaging Het
Neb A G 2: 52,115,679 (GRCm39) Y4176H probably damaging Het
Nxpe3 A G 16: 55,670,128 (GRCm39) F326L probably benign Het
Or13a21 T C 7: 139,999,581 (GRCm39) Y35C probably damaging Het
Or2ag1 A G 7: 106,313,541 (GRCm39) S116P possibly damaging Het
Pak5 T A 2: 135,929,333 (GRCm39) R617W probably damaging Het
Peak1 C A 9: 56,166,486 (GRCm39) V481L probably damaging Het
Pik3ap1 G A 19: 41,281,267 (GRCm39) probably benign Het
Pmm1 C T 15: 81,844,987 (GRCm39) E6K probably benign Het
Ppp2r5c G A 12: 110,546,868 (GRCm39) V454M probably benign Het
Ptprf C T 4: 118,106,095 (GRCm39) probably null Het
Pygm G A 19: 6,443,024 (GRCm39) probably null Het
Rimbp2 T A 5: 128,874,912 (GRCm39) probably benign Het
Rps6ka5 A T 12: 100,541,892 (GRCm39) probably null Het
Scarb2 A G 5: 92,608,662 (GRCm39) V188A probably benign Het
Sfrp1 T A 8: 23,902,354 (GRCm39) probably benign Het
Siglec15 T A 18: 78,086,820 (GRCm39) probably benign Het
Smgc A G 15: 91,738,796 (GRCm39) I485V probably benign Het
Tas2r124 A G 6: 132,731,798 (GRCm39) I36V probably benign Het
Trmt10b G T 4: 45,305,879 (GRCm39) G185W probably damaging Het
Ttll4 A G 1: 74,727,352 (GRCm39) N798S possibly damaging Het
Ttn G T 2: 76,619,896 (GRCm39) T15924N probably damaging Het
Utrn A T 10: 12,587,301 (GRCm39) Y912N possibly damaging Het
Vmn2r113 T C 17: 23,177,285 (GRCm39) Y690H probably benign Het
Vmn2r51 T C 7: 9,834,154 (GRCm39) R295G probably damaging Het
Vpreb3 A G 10: 75,784,231 (GRCm39) T14A probably benign Het
Other mutations in Irf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01355:Irf1 APN 11 53,665,187 (GRCm39) missense probably benign
endeka UTSW 11 53,663,717 (GRCm39) missense probably damaging 1.00
Endeka2 UTSW 11 53,662,148 (GRCm39) missense probably damaging 1.00
Longs_peak UTSW 11 53,666,762 (GRCm39) missense probably benign 0.27
R0981:Irf1 UTSW 11 53,664,548 (GRCm39) makesense probably null
R1861:Irf1 UTSW 11 53,665,183 (GRCm39) missense possibly damaging 0.65
R2511:Irf1 UTSW 11 53,664,617 (GRCm39) missense probably damaging 1.00
R5828:Irf1 UTSW 11 53,666,762 (GRCm39) missense probably benign 0.27
R6514:Irf1 UTSW 11 53,662,148 (GRCm39) missense probably damaging 1.00
R6986:Irf1 UTSW 11 53,664,966 (GRCm39) missense probably damaging 1.00
R7108:Irf1 UTSW 11 53,665,238 (GRCm39) missense probably damaging 1.00
R7696:Irf1 UTSW 11 53,667,162 (GRCm39) missense probably benign 0.07
R9055:Irf1 UTSW 11 53,667,196 (GRCm39) missense probably benign
Posted On 2014-02-04