Incidental Mutation 'R6986:Irf1'
ID 542984
Institutional Source Beutler Lab
Gene Symbol Irf1
Ensembl Gene ENSMUSG00000018899
Gene Name interferon regulatory factor 1
Synonyms Irf-1
MMRRC Submission 045093-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6986 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 53660841-53669200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53664966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 165 (T165A)
Ref Sequence ENSEMBL: ENSMUSP00000104550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019043] [ENSMUST00000108920] [ENSMUST00000108922] [ENSMUST00000123376] [ENSMUST00000133291] [ENSMUST00000138913] [ENSMUST00000140866] [ENSMUST00000142221] [ENSMUST00000170390]
AlphaFold P15314
Predicted Effect probably damaging
Transcript: ENSMUST00000019043
AA Change: T165A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000019043
Gene: ENSMUSG00000018899
AA Change: T165A

DomainStartEndE-ValueType
IRF 1 114 6.75e-62 SMART
low complexity region 120 138 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108920
AA Change: T165A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104548
Gene: ENSMUSG00000018899
AA Change: T165A

DomainStartEndE-ValueType
IRF 1 114 6.75e-62 SMART
low complexity region 120 138 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108922
AA Change: T165A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104550
Gene: ENSMUSG00000018899
AA Change: T165A

DomainStartEndE-ValueType
IRF 1 114 6.75e-62 SMART
low complexity region 120 138 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000123376
AA Change: T165A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122101
Gene: ENSMUSG00000018899
AA Change: T165A

DomainStartEndE-ValueType
IRF 1 114 6.75e-62 SMART
low complexity region 120 138 N/A INTRINSIC
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 possibly damaging
Transcript: ENSMUST00000140866
AA Change: T165A

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114315
Gene: ENSMUSG00000018899
AA Change: T165A

DomainStartEndE-ValueType
IRF 1 114 6.75e-62 SMART
low complexity region 120 138 N/A INTRINSIC
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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 98.1%
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
Adcy9 T C 16: 4,129,441 (GRCm39) N482D probably damaging Het
Agbl3 A G 6: 34,816,387 (GRCm39) K766E probably benign Het
Aldh3a1 T A 11: 61,105,077 (GRCm39) I154N probably damaging Het
Cdca2 C T 14: 67,932,446 (GRCm39) V486I probably benign Het
Celf3 G C 3: 94,395,024 (GRCm39) A313P possibly damaging Het
Cgrrf1 T C 14: 47,069,586 (GRCm39) probably benign Het
Chd7 T A 4: 8,859,285 (GRCm39) N2458K possibly damaging Het
Chrna5 T A 9: 54,913,741 (GRCm39) M429K possibly damaging Het
Cux2 A T 5: 122,006,642 (GRCm39) L876Q possibly damaging Het
Cyb5rl T A 4: 106,928,073 (GRCm39) S3T probably benign Het
Ehd4 A T 2: 119,927,571 (GRCm39) M321K probably damaging Het
Ell2 C A 13: 75,910,006 (GRCm39) L119M probably damaging Het
Endod1 T C 9: 14,268,606 (GRCm39) E293G probably damaging Het
Fat3 G A 9: 15,932,631 (GRCm39) T1434I probably damaging Het
Flrt2 T A 12: 95,747,459 (GRCm39) I599N probably damaging Het
Gm6370 T A 5: 146,430,398 (GRCm39) probably null Het
Gm7247 T C 14: 51,602,832 (GRCm39) M56T possibly damaging Het
H3c8 A G 13: 23,719,603 (GRCm39) probably benign Het
Herc2 G A 7: 55,756,201 (GRCm39) R747H possibly damaging Het
Ints8 T C 4: 11,204,474 (GRCm39) Y994C probably damaging Het
Lgr6 G T 1: 134,921,694 (GRCm39) Q217K possibly damaging Het
Lrrc36 T C 8: 106,185,079 (GRCm39) S619P probably damaging Het
Morn4 T C 19: 42,066,453 (GRCm39) N45D possibly damaging Het
Mtarc2 T C 1: 184,573,460 (GRCm39) H53R probably benign Het
Mtmr3 T C 11: 4,439,692 (GRCm39) T583A probably damaging Het
Ncdn A G 4: 126,641,022 (GRCm39) Y493H probably damaging Het
Nckap1 T A 2: 80,350,911 (GRCm39) Y726F probably benign Het
Optc T A 1: 133,825,702 (GRCm39) M275L probably benign Het
Or2w25 A G 11: 59,504,924 (GRCm39) K378R possibly damaging Het
Or6c69c G A 10: 129,911,199 (GRCm39) V307M possibly damaging Het
Perm1 A T 4: 156,302,976 (GRCm39) K507* probably null Het
Pgbd5 C T 8: 125,111,212 (GRCm39) E160K possibly damaging Het
Polr2k C A 15: 36,175,181 (GRCm39) P14T probably benign Het
Ppp2r3d A T 9: 124,439,080 (GRCm38) Y112* probably null Het
Pramel14 T A 4: 143,719,888 (GRCm39) D159V probably damaging Het
Rnase9 T C 14: 51,276,537 (GRCm39) N147S probably benign Het
Rnls C T 19: 33,359,781 (GRCm39) G11D probably damaging Het
Sbf2 T C 7: 109,929,822 (GRCm39) T333A probably damaging Het
Scn3a A T 2: 65,338,962 (GRCm39) N572K probably damaging Het
Serinc3 A G 2: 163,469,891 (GRCm39) L319P probably benign Het
Setbp1 T C 18: 78,901,054 (GRCm39) D871G probably damaging Het
Sf3b2 T C 19: 5,329,923 (GRCm39) T661A probably benign Het
Sgsm2 T A 11: 74,782,867 (GRCm39) R30W probably damaging Het
Sh3tc1 A G 5: 35,881,288 (GRCm39) S52P probably benign Het
Smox C T 2: 131,364,031 (GRCm39) A45V possibly damaging Het
Snrpa A T 7: 26,892,389 (GRCm39) M57K probably damaging Het
Spata31f3 A G 4: 42,868,696 (GRCm39) V309A possibly damaging Het
Srbd1 A T 17: 86,292,650 (GRCm39) I973N probably damaging Het
Srp72 T A 5: 77,142,723 (GRCm39) S428T probably benign Het
Ss18l2 A G 9: 121,541,671 (GRCm39) Y50C probably damaging Het
St14 A G 9: 31,007,845 (GRCm39) L578P probably damaging Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Tmc1 T C 19: 20,801,647 (GRCm39) N460D probably benign Het
Tnni3k C T 3: 154,667,501 (GRCm39) G280R probably damaging Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Trpc3 A G 3: 36,709,165 (GRCm39) probably null Het
Tshr C T 12: 91,500,731 (GRCm39) A152V probably damaging Het
Tuft1 G A 3: 94,521,461 (GRCm39) P358S probably damaging Het
Vmn2r120 A T 17: 57,816,340 (GRCm39) S672T probably damaging Het
Vmn2r83 G T 10: 79,316,093 (GRCm39) E496D probably benign Het
Vmn2r91 A G 17: 18,356,271 (GRCm39) N646S probably benign Het
Zfp9 A G 6: 118,441,426 (GRCm39) V412A possibly damaging Het
Zmynd8 G T 2: 165,675,335 (GRCm39) H273N probably damaging Het
Other mutations in Irf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01355:Irf1 APN 11 53,665,187 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AGTCCAGCCGAGACACTAAG -3'
(R):5'- ACTCAGAGAGACTGCTGCTG -3'

Sequencing Primer
(F):5'- GCCGAGACACTAAGAGCAAAAC -3'
(R):5'- AGAGACTGCTGCTGACGACAC -3'
Posted On 2018-11-28