Incidental Mutation 'IGL01355:Irf1'
ID 75488
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 # IGL01355
Quality Score
Status
Chromosome 11
Chromosomal Location 53660841-53669200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53665187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 188 (V188A)
Ref Sequence ENSEMBL: ENSMUSP00000104550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019043] [ENSMUST00000108920] [ENSMUST00000108922] [ENSMUST00000123376] [ENSMUST00000133291] [ENSMUST00000138913] [ENSMUST00000140866] [ENSMUST00000170390] [ENSMUST00000142221]
AlphaFold P15314
Predicted Effect probably benign
Transcript: ENSMUST00000019043
AA Change: V188A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019043
Gene: ENSMUSG00000018899
AA Change: V188A

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: V188A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104548
Gene: ENSMUSG00000018899
AA Change: V188A

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: V188A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104550
Gene: ENSMUSG00000018899
AA Change: V188A

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 probably benign
Transcript: ENSMUST00000138913
SMART Domains Protein: ENSMUSP00000118314
Gene: ENSMUSG00000018899

DomainStartEndE-ValueType
IRF 1 62 2.41e-8 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: ENSMUST00000170390
Predicted Effect probably benign
Transcript: ENSMUST00000142221
SMART Domains Protein: ENSMUSP00000118795
Gene: ENSMUSG00000018899

DomainStartEndE-ValueType
Pfam:IRF 5 48 4.8e-11 PFAM
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ajap1 C T 4: 153,470,938 (GRCm39) V290I probably damaging Het
Ankrd12 A G 17: 66,277,335 (GRCm39) probably benign Het
Anxa4 A T 6: 86,729,187 (GRCm39) I140N probably damaging Het
Asap2 A G 12: 21,268,087 (GRCm39) probably benign Het
Cd36 C T 5: 18,018,072 (GRCm39) V214I possibly damaging Het
Col24a1 T C 3: 145,020,637 (GRCm39) L336S probably benign Het
Dcc C T 18: 71,942,185 (GRCm39) V311I probably benign Het
Gpr146 A T 5: 139,364,659 (GRCm39) probably benign Het
Limk1 G A 5: 134,686,754 (GRCm39) probably benign Het
Mcidas T C 13: 113,135,603 (GRCm39) F342S probably damaging Het
Mctp1 A G 13: 76,533,074 (GRCm39) T141A probably benign Het
Mnd1 C A 3: 84,023,784 (GRCm39) A101S probably benign Het
Nsun7 T C 5: 66,452,211 (GRCm39) S466P probably damaging Het
Or2m13 C T 16: 19,226,333 (GRCm39) M145I probably benign Het
Or4g16 T A 2: 111,137,438 (GRCm39) I296K probably benign Het
Or52z12 A G 7: 103,233,580 (GRCm39) E117G probably damaging Het
Pik3c2g G T 6: 139,798,583 (GRCm39) G371V probably damaging Het
Sdad1 A G 5: 92,450,538 (GRCm39) V199A probably damaging Het
Spg11 C T 2: 121,943,637 (GRCm39) V172I probably benign Het
Tas2r108 A G 6: 40,470,685 (GRCm39) T54A possibly damaging Het
Tmem121b A G 6: 120,469,427 (GRCm39) L430P probably damaging Het
Traf3ip1 A G 1: 91,446,019 (GRCm39) D384G probably damaging Het
Trank1 A G 9: 111,194,588 (GRCm39) T871A possibly damaging Het
Vegfa T C 17: 46,336,347 (GRCm39) M258V possibly damaging Het
Zbtb49 A G 5: 38,367,960 (GRCm39) probably null Het
Other mutations in Irf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01743:Irf1 APN 11 53,665,277 (GRCm39) missense probably benign 0.39
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 2013-10-07