Incidental Mutation 'R9352:Irf4'
ID 708166
Institutional Source Beutler Lab
Gene Symbol Irf4
Ensembl Gene ENSMUSG00000021356
Gene Name interferon regulatory factor 4
Synonyms IRF-4, Spip
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.590) question?
Stock # R9352 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 30933209-30950959 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30936706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 146 (M146L)
Ref Sequence ENSEMBL: ENSMUSP00000021784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021784] [ENSMUST00000110307] [ENSMUST00000222125]
AlphaFold Q64287
Predicted Effect probably benign
Transcript: ENSMUST00000021784
AA Change: M146L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021784
Gene: ENSMUSG00000021356
AA Change: M146L

DomainStartEndE-ValueType
IRF 17 130 6.96e-64 SMART
IRF-3 249 418 1.17e-84 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110307
AA Change: M146L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105936
Gene: ENSMUSG00000021356
AA Change: M146L

DomainStartEndE-ValueType
IRF 17 130 6.96e-64 SMART
IRF-3 248 417 1.17e-84 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000222125
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the IRF (interferon regulatory factor) family of transcription factors, characterized by an unique tryptophan pentad repeat DNA-binding domain. The IRFs are important in the regulation of interferons in response to infection by virus, and in the regulation of interferon-inducible genes. This family member is lymphocyte specific and negatively regulates Toll-like-receptor (TLR) signaling that is central to the activation of innate and adaptive immune systems. A chromosomal translocation involving this gene and the IgH locus, t(6;14)(p25;q32), may be a cause of multiple myeloma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display immune system abnormalities involving development of both T and B cells and affecting susceptibility to both bacterial and viral infections as well as impaired thermogenic gene expression and energy expenditure. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, knock-out(2) Targeted, other(1)

Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 A T 7: 82,091,656 (GRCm39) Q123L probably damaging Het
Adarb2 T A 13: 8,807,428 (GRCm39) L743Q probably damaging Het
Alpk2 C A 18: 65,439,783 (GRCm39) D537Y probably benign Het
Anxa4 C T 6: 86,742,775 (GRCm39) probably benign Het
Arfgap3 T A 15: 83,191,127 (GRCm39) I464L possibly damaging Het
Asb2 C T 12: 103,296,698 (GRCm39) V320I probably damaging Het
Axl T C 7: 25,462,752 (GRCm39) T659A possibly damaging Het
Bbof1 A G 12: 84,461,394 (GRCm39) H139R probably benign Het
Birc6 G A 17: 74,965,347 (GRCm39) probably null Het
Cdh23 G A 10: 60,143,306 (GRCm39) A3005V possibly damaging Het
Chil3 A T 3: 106,067,787 (GRCm39) F126Y probably damaging Het
Chrnb4 T A 9: 54,951,167 (GRCm39) D32V probably benign Het
Chst15 C A 7: 131,872,257 (GRCm39) C8F probably damaging Het
Cntnap5c A G 17: 58,399,463 (GRCm39) I439V probably benign Het
Crisp2 T A 17: 41,078,200 (GRCm39) N194I probably damaging Het
Csrnp1 G A 9: 119,801,997 (GRCm39) T354M probably benign Het
Cul1 T A 6: 47,479,426 (GRCm39) S231T probably benign Het
Cyp27a1 C T 1: 74,752,920 (GRCm39) T44M possibly damaging Het
Dgkg T C 16: 22,398,581 (GRCm39) D232G probably damaging Het
Dnah1 G T 14: 31,038,620 (GRCm39) Q154K probably benign Het
Dnmt1 A G 9: 20,840,384 (GRCm39) V304A probably benign Het
Dok6 T C 18: 89,492,133 (GRCm39) N148S probably benign Het
Fnta A T 8: 26,501,119 (GRCm39) W134R probably damaging Het
Garin5b T A 7: 4,761,605 (GRCm39) Y369F Het
Gm32742 T G 9: 51,052,544 (GRCm39) Q1441P possibly damaging Het
Gm3486 T C 14: 41,208,318 (GRCm39) Q131R possibly damaging Het
Gnptab A G 10: 88,268,350 (GRCm39) N486D probably benign Het
H2-Q4 T G 17: 35,601,909 (GRCm39) F257C probably damaging Het
Hfe A G 13: 23,890,119 (GRCm39) V218A probably benign Het
Htr2b A G 1: 86,027,294 (GRCm39) V404A probably benign Het
Hyou1 T A 9: 44,300,926 (GRCm39) probably null Het
Ikbkb T C 8: 23,150,444 (GRCm39) D746G probably benign Het
Ikzf4 T C 10: 128,472,623 (GRCm39) N251S probably benign Het
Il23r A C 6: 67,403,592 (GRCm39) N436K probably damaging Het
Impg2 A T 16: 56,072,470 (GRCm39) I301L probably benign Het
Iws1 G A 18: 32,213,213 (GRCm39) E214K possibly damaging Het
Kctd3 T C 1: 188,704,777 (GRCm39) S665G probably damaging Het
Kiz T C 2: 146,794,927 (GRCm39) S596P probably damaging Het
Kpna2 T C 11: 106,880,292 (GRCm39) E452G probably damaging Het
Lclat1 A G 17: 73,468,937 (GRCm39) Y39C probably damaging Het
Lig3 A G 11: 82,686,971 (GRCm39) S705G probably benign Het
Lrp1b T C 2: 40,748,438 (GRCm39) D3134G Het
Map3k8 C T 18: 4,349,170 (GRCm39) M49I probably benign Het
Mep1b A G 18: 21,209,431 (GRCm39) D54G probably damaging Het
Mgat5b T A 11: 116,857,533 (GRCm39) S342R probably benign Het
Mthfd2l G T 5: 91,109,172 (GRCm39) V201L possibly damaging Het
Naip6 G T 13: 100,437,893 (GRCm39) T371K possibly damaging Het
Naxd T C 8: 11,555,504 (GRCm39) I104T probably damaging Het
Nbeal2 T A 9: 110,456,916 (GRCm39) I2361F probably benign Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or1e17 A G 11: 73,831,470 (GRCm39) T133A probably benign Het
Or6c75 A T 10: 129,337,364 (GRCm39) M196L probably benign Het
Or8b8 A G 9: 37,808,712 (GRCm39) E4G probably benign Het
Or8c16 T G 9: 38,130,683 (GRCm39) L185R probably damaging Het
Pga5 C T 19: 10,646,897 (GRCm39) G303S probably damaging Het
Polq T C 16: 36,862,252 (GRCm39) F591L probably damaging Het
Ppp2r1a A T 17: 21,185,499 (GRCm39) probably null Het
Prrc1 A G 18: 57,522,317 (GRCm39) Y383C probably damaging Het
Ptgfr A T 3: 151,541,160 (GRCm39) V116D probably damaging Het
Qpctl C T 7: 18,878,599 (GRCm39) R292Q possibly damaging Het
Rasip1 G A 7: 45,278,280 (GRCm39) V194M possibly damaging Het
Rbbp4 A T 4: 129,211,498 (GRCm39) N385K probably benign Het
Rbbp8nl A G 2: 179,921,053 (GRCm39) S444P probably benign Het
Resf1 T C 6: 149,236,180 (GRCm39) F1500S probably damaging Het
Sf3a1 G A 11: 4,110,494 (GRCm39) A3T unknown Het
Slc1a4 A G 11: 20,282,025 (GRCm39) S150P probably damaging Het
Slc28a2 T C 2: 122,281,522 (GRCm39) probably null Het
Slc30a5 A G 13: 100,940,380 (GRCm39) I702T probably benign Het
Slc36a4 T A 9: 15,633,319 (GRCm39) probably null Het
Slf2 A G 19: 44,931,957 (GRCm39) R671G probably null Het
Smarcc1 A G 9: 110,035,220 (GRCm39) K881R probably null Het
Srsf11 A G 3: 157,717,836 (GRCm39) V414A unknown Het
Tcn2 T C 11: 3,873,446 (GRCm39) N300S probably damaging Het
Tecta T C 9: 42,249,147 (GRCm39) K1905R probably damaging Het
Tex30 T G 1: 44,130,753 (GRCm39) probably null Het
Tktl2 A T 8: 66,965,974 (GRCm39) I511F possibly damaging Het
Tpp1 G T 7: 105,398,881 (GRCm39) Q183K probably benign Het
Trib2 A C 12: 15,865,413 (GRCm39) I30R probably benign Het
Tti1 A G 2: 157,842,692 (GRCm39) L779P probably benign Het
Unc13b CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC 4: 43,177,312 (GRCm39) probably benign Het
Unc13b GAGCCA GAGCCATAGCCA 4: 43,177,313 (GRCm39) probably null Het
Vmn2r112 A G 17: 22,822,479 (GRCm39) T386A probably damaging Het
Vps16 T C 2: 130,283,823 (GRCm39) probably null Het
Zan T G 5: 137,434,745 (GRCm39) N2186T unknown Het
Zdhhc11 C T 13: 74,121,800 (GRCm39) R104* probably null Het
Zfp318 T G 17: 46,721,284 (GRCm39) H1176Q probably damaging Het
Zfp335 G A 2: 164,742,242 (GRCm39) H581Y probably damaging Het
Zfp7 T C 15: 76,775,674 (GRCm39) I572T probably damaging Het
Zfp955a T C 17: 33,461,335 (GRCm39) T266A probably benign Het
Other mutations in Irf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Irf4 APN 13 30,935,767 (GRCm39) missense probably damaging 1.00
IGL01154:Irf4 APN 13 30,941,404 (GRCm39) missense possibly damaging 0.46
IGL01669:Irf4 APN 13 30,941,454 (GRCm39) missense probably damaging 0.99
IGL02729:Irf4 APN 13 30,937,574 (GRCm39) critical splice donor site probably null
IGL03197:Irf4 APN 13 30,947,503 (GRCm39) splice site probably benign
honey UTSW 13 30,935,734 (GRCm39) missense probably damaging 0.99
Honey2 UTSW 13 30,945,473 (GRCm39) splice site probably benign
miel UTSW 13 30,945,445 (GRCm39) missense probably benign 0.00
R1300:Irf4 UTSW 13 30,941,568 (GRCm39) missense probably damaging 0.98
R1656:Irf4 UTSW 13 30,941,485 (GRCm39) missense probably benign
R1914:Irf4 UTSW 13 30,945,445 (GRCm39) missense probably benign 0.00
R1915:Irf4 UTSW 13 30,945,445 (GRCm39) missense probably benign 0.00
R3889:Irf4 UTSW 13 30,945,473 (GRCm39) splice site probably benign
R4648:Irf4 UTSW 13 30,947,580 (GRCm39) missense probably benign 0.00
R5553:Irf4 UTSW 13 30,935,811 (GRCm39) missense probably damaging 1.00
R5913:Irf4 UTSW 13 30,941,741 (GRCm39) missense probably benign
R7809:Irf4 UTSW 13 30,941,415 (GRCm39) missense probably benign 0.07
R7894:Irf4 UTSW 13 30,937,435 (GRCm39) missense probably benign
R8051:Irf4 UTSW 13 30,945,456 (GRCm39) missense probably damaging 0.98
R8393:Irf4 UTSW 13 30,947,610 (GRCm39) missense probably damaging 0.99
R8686:Irf4 UTSW 13 30,945,433 (GRCm39) missense possibly damaging 0.73
R8856:Irf4 UTSW 13 30,945,414 (GRCm39) missense probably damaging 1.00
R9166:Irf4 UTSW 13 30,941,484 (GRCm39) missense probably benign
Z1177:Irf4 UTSW 13 30,934,646 (GRCm39) missense probably damaging 1.00
Z1177:Irf4 UTSW 13 30,934,644 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGTCACTCACAAGTCAGCAAATG -3'
(R):5'- GCGTGTGTACTAGCCATAGC -3'

Sequencing Primer
(F):5'- CACAAGTCAGCAAATGTTTAATCAG -3'
(R):5'- CGTGTGTACTAGCCATAGCAAATAAG -3'
Posted On 2022-04-18