Incidental Mutation 'R2274:Irf8'
ID 244979
Institutional Source Beutler Lab
Gene Symbol Irf8
Ensembl Gene ENSMUSG00000041515
Gene Name interferon regulatory factor 8
Synonyms ICSBP, Myls, IRF-8, Icsbp1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2274 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 121463097-121483433 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121480266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 168 (E168G)
Ref Sequence ENSEMBL: ENSMUSP00000125447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047737] [ENSMUST00000127664] [ENSMUST00000160943] [ENSMUST00000162001] [ENSMUST00000162658]
AlphaFold P23611
Predicted Effect probably benign
Transcript: ENSMUST00000047737
AA Change: E259G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000040245
Gene: ENSMUSG00000041515
AA Change: E259G

DomainStartEndE-ValueType
IRF 3 115 8.69e-65 SMART
Blast:IRF 129 176 7e-11 BLAST
IRF-3 202 380 2.63e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160594
Predicted Effect probably damaging
Transcript: ENSMUST00000160943
AA Change: E168G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125447
Gene: ENSMUSG00000041515
AA Change: E168G

DomainStartEndE-ValueType
IRF 3 85 2.54e-16 SMART
IRF-3 111 289 2.63e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162001
AA Change: E259G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000125029
Gene: ENSMUSG00000041515
AA Change: E259G

DomainStartEndE-ValueType
IRF 3 115 8.69e-65 SMART
Blast:IRF 129 176 7e-11 BLAST
IRF-3 202 380 2.63e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162658
SMART Domains Protein: ENSMUSP00000125443
Gene: ENSMUSG00000041515

DomainStartEndE-ValueType
IRF 3 85 2.54e-16 SMART
Pfam:IRF-3 111 151 4.7e-9 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a transcription factor that belongs to the interferon regulatory factor family. Proteins belonging to this family have a DNA binding domain at the amino terminus that contains five well-conserved tryptophan-rich repeats. This domain recognizes DNA sequences similar to the interferon-stimulated response element. The protein encoded by this gene promotes or suppresses lineage-specific genes to regulate the differentation of lymphoid and myeloid lineage cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased incidence of viral infections, shortened life span, deregulated hematopoiesis, and hematological neoplasias. Heterozygotes show similar, but milder, phenotypes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A T 11: 99,728,667 (GRCm39) C59S possibly damaging Het
Abca5 A T 11: 110,166,107 (GRCm39) N1556K possibly damaging Het
Abcb10 G T 8: 124,709,491 (GRCm39) A21E probably benign Het
Ackr1 T C 1: 173,160,052 (GRCm39) N156D probably benign Het
Adamtsl3 A T 7: 82,255,766 (GRCm39) S1593C probably benign Het
Ank3 T A 10: 69,786,772 (GRCm39) probably null Het
Aqp4 A G 18: 15,526,537 (GRCm39) S315P probably benign Het
Atp7b T C 8: 22,510,848 (GRCm39) I433V probably benign Het
Bco1 G A 8: 117,835,522 (GRCm39) probably null Het
Cacna1g T A 11: 94,306,762 (GRCm39) E1842V probably damaging Het
Calhm3 T A 19: 47,145,986 (GRCm39) Q73L probably damaging Het
Car5a C T 8: 122,671,408 (GRCm39) probably null Het
Cdk11b T A 4: 155,732,051 (GRCm39) probably benign Het
Cdr2 A T 7: 120,557,732 (GRCm39) H264Q possibly damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
D7Ertd443e A G 7: 133,871,930 (GRCm39) S644P probably damaging Het
Dnlz A T 2: 26,241,483 (GRCm39) C82S probably damaging Het
Egr4 A T 6: 85,489,725 (GRCm39) F112I probably damaging Het
Emilin1 C T 5: 31,075,082 (GRCm39) P441L possibly damaging Het
F11 T C 8: 45,705,184 (GRCm39) D119G possibly damaging Het
Fat4 T A 3: 39,050,048 (GRCm39) V3970D possibly damaging Het
Fbxw5 C A 2: 25,394,773 (GRCm39) C222* probably null Het
Fn1 C T 1: 71,653,102 (GRCm39) G1296R probably null Het
Ghr A G 15: 3,349,507 (GRCm39) V557A probably benign Het
Gm11568 A G 11: 99,749,070 (GRCm39) S92G unknown Het
Gpatch1 A T 7: 34,988,103 (GRCm39) S678T probably benign Het
Gpr155 A G 2: 73,178,479 (GRCm39) probably null Het
Gucy2f A T X: 140,899,269 (GRCm39) M697K probably benign Het
Hecw1 T C 13: 14,520,653 (GRCm39) T195A probably benign Het
Hoxd1 A G 2: 74,594,501 (GRCm39) K252R probably damaging Het
Iqck G A 7: 118,498,880 (GRCm39) D173N possibly damaging Het
Kcnh1 T G 1: 192,019,829 (GRCm39) V358G probably damaging Het
Kifap3 T A 1: 163,696,327 (GRCm39) V652D possibly damaging Het
L3hypdh T C 12: 72,131,632 (GRCm39) Y100C possibly damaging Het
Map4k1 T A 7: 28,701,382 (GRCm39) H729Q probably damaging Het
Marchf1 T A 8: 66,840,151 (GRCm39) N311K probably benign Het
Mier2 T C 10: 79,380,368 (GRCm39) I321V probably damaging Het
Mta1 C T 12: 113,091,770 (GRCm39) S291L probably damaging Het
Myh2 A G 11: 67,081,184 (GRCm39) K1267E possibly damaging Het
Nbea A T 3: 55,895,506 (GRCm39) probably null Het
Nexmif T G X: 103,131,452 (GRCm39) E155A possibly damaging Het
Nkpd1 A G 7: 19,257,822 (GRCm39) I534V probably benign Het
Nxph1 G T 6: 9,247,746 (GRCm39) C239F probably damaging Het
Odc1 A G 12: 17,598,425 (GRCm39) I189V probably benign Het
Or1n1 A T 2: 36,750,113 (GRCm39) N82K probably damaging Het
Or2t44 T C 11: 58,677,492 (GRCm39) V144A probably benign Het
Or5d41 A G 2: 88,055,167 (GRCm39) F70L probably benign Het
Or6c35 T C 10: 129,169,326 (GRCm39) I192T probably benign Het
Pcdhb15 T C 18: 37,608,496 (GRCm39) L576P probably damaging Het
Raph1 T C 1: 60,537,659 (GRCm39) D499G probably damaging Het
Rptor T A 11: 119,647,148 (GRCm39) C246* probably null Het
Rtl1 T C 12: 109,561,101 (GRCm39) E246G unknown Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc12a3 T A 8: 95,059,915 (GRCm39) I187N possibly damaging Het
Slc46a1 T G 11: 78,357,249 (GRCm39) S101A probably benign Het
Slc4a8 A G 15: 100,705,283 (GRCm39) M830V probably benign Het
Sned1 T A 1: 93,209,364 (GRCm39) probably null Het
St3gal6 T A 16: 58,309,332 (GRCm39) E34D possibly damaging Het
Tcstv3 C T 13: 120,779,190 (GRCm39) Q30* probably null Het
Tex16 T A X: 111,030,838 (GRCm39) D1112E probably damaging Het
Tmcc3 G A 10: 94,414,777 (GRCm39) V160I probably damaging Het
Tmf1 T A 6: 97,140,547 (GRCm39) L776F probably damaging Het
Tsr1 A T 11: 74,795,653 (GRCm39) probably null Het
Tyrp1 A T 4: 80,755,771 (GRCm39) E180V probably damaging Het
Ubr3 T C 2: 69,846,685 (GRCm39) V1636A probably benign Het
Usp1 T C 4: 98,818,079 (GRCm39) L139P probably damaging Het
Vmn1r232 A G 17: 21,134,465 (GRCm39) L45P probably benign Het
Vmn1r49 G A 6: 90,049,126 (GRCm39) T292I probably benign Het
Wdr19 T A 5: 65,398,334 (GRCm39) M853K possibly damaging Het
Zkscan8 C T 13: 21,705,966 (GRCm39) M265I probably benign Het
Other mutations in Irf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01314:Irf8 APN 8 121,480,119 (GRCm39) missense probably damaging 1.00
IGL02944:Irf8 APN 8 121,481,864 (GRCm39) missense probably benign 0.00
IGL03024:Irf8 APN 8 121,480,097 (GRCm39) missense probably damaging 0.98
gemini UTSW 8 121,470,622 (GRCm39) nonsense probably null
gemini2 UTSW 8 121,480,446 (GRCm39) missense probably damaging 0.97
glenn UTSW 8 121,466,581 (GRCm39) missense probably damaging 1.00
ANU74:Irf8 UTSW 8 121,466,608 (GRCm39) missense possibly damaging 0.75
R0211:Irf8 UTSW 8 121,466,714 (GRCm39) missense probably damaging 1.00
R0211:Irf8 UTSW 8 121,466,714 (GRCm39) missense probably damaging 1.00
R0840:Irf8 UTSW 8 121,480,220 (GRCm39) missense probably benign 0.06
R1622:Irf8 UTSW 8 121,466,561 (GRCm39) missense possibly damaging 0.86
R1715:Irf8 UTSW 8 121,481,127 (GRCm39) missense probably damaging 0.98
R2875:Irf8 UTSW 8 121,481,202 (GRCm39) missense probably damaging 1.00
R3743:Irf8 UTSW 8 121,480,310 (GRCm39) missense probably damaging 1.00
R4209:Irf8 UTSW 8 121,480,208 (GRCm39) missense probably damaging 0.99
R4729:Irf8 UTSW 8 121,480,178 (GRCm39) missense probably damaging 0.99
R6343:Irf8 UTSW 8 121,480,446 (GRCm39) missense probably damaging 0.97
R6950:Irf8 UTSW 8 121,481,864 (GRCm39) missense probably benign 0.00
R7051:Irf8 UTSW 8 121,466,581 (GRCm39) missense probably damaging 1.00
R7052:Irf8 UTSW 8 121,466,581 (GRCm39) missense probably damaging 1.00
R7249:Irf8 UTSW 8 121,466,571 (GRCm39) missense possibly damaging 0.92
R9153:Irf8 UTSW 8 121,480,400 (GRCm39) missense probably benign
R9613:Irf8 UTSW 8 121,481,207 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACAGCTTTCTCCCAGATGGTC -3'
(R):5'- CGAGGTGACTTGGTACTGAC -3'

Sequencing Primer
(F):5'- AGATGGTCATCAGCTTCTACTACGG -3'
(R):5'- TTGGTGTCAAAGACCTGCAC -3'
Posted On 2014-10-30