Incidental Mutation 'R1656:Irf4'
ID 189130
Institutional Source Beutler Lab
Gene Symbol Irf4
Ensembl Gene ENSMUSG00000021356
Gene Name interferon regulatory factor 4
Synonyms IRF-4, Spip
MMRRC Submission 039692-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.590) question?
Stock # R1656 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 30933209-30950959 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 30941485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 279 (H279Q)
Ref Sequence ENSEMBL: ENSMUSP00000105936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021784] [ENSMUST00000110307]
AlphaFold Q64287
Predicted Effect probably benign
Transcript: ENSMUST00000021784
AA Change: H280Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021784
Gene: ENSMUSG00000021356
AA Change: H280Q

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: H279Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105936
Gene: ENSMUSG00000021356
AA Change: H279Q

DomainStartEndE-ValueType
IRF 17 130 6.96e-64 SMART
IRF-3 248 417 1.17e-84 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 96% (79/82)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024G13Rik A T 14: 32,099,901 (GRCm39) I42N possibly damaging Het
Adarb2 T A 13: 8,253,287 (GRCm39) S11T unknown Het
Adgrg1 C T 8: 95,738,438 (GRCm39) Q644* probably null Het
Akr1c18 T G 13: 4,195,252 (GRCm39) I69L probably benign Het
Anxa9 C T 3: 95,207,884 (GRCm39) V219I probably benign Het
Aqp9 T C 9: 71,045,385 (GRCm39) T101A probably benign Het
Arhgef1 C T 7: 24,613,057 (GRCm39) R251W probably damaging Het
Arl13b T A 16: 62,627,007 (GRCm39) E231D possibly damaging Het
Atosa C T 9: 74,916,241 (GRCm39) A280V probably benign Het
Bcl2l11 C T 2: 128,000,176 (GRCm39) A173V probably benign Het
Ccni A T 5: 93,335,933 (GRCm39) probably null Het
Cdh18 A G 15: 23,474,485 (GRCm39) E785G probably benign Het
Cdk4 A G 10: 126,900,849 (GRCm39) Y167C probably benign Het
Clip1 A C 5: 123,768,466 (GRCm39) V757G possibly damaging Het
Ctsc T C 7: 87,930,616 (GRCm39) V65A possibly damaging Het
Cuedc2 G A 19: 46,320,427 (GRCm39) S48L probably damaging Het
Cyp39a1 T A 17: 43,978,510 (GRCm39) M4K possibly damaging Het
Dgcr8 T C 16: 18,074,577 (GRCm39) S733G probably benign Het
Dnhd1 T C 7: 105,363,488 (GRCm39) S4017P probably damaging Het
Ehbp1 A G 11: 22,096,694 (GRCm39) I255T probably benign Het
Fam83e T C 7: 45,371,687 (GRCm39) V28A probably benign Het
Fanci A G 7: 79,054,936 (GRCm39) probably benign Het
Fat1 C T 8: 45,478,567 (GRCm39) Q2538* probably null Het
Fshr A G 17: 89,508,009 (GRCm39) F11S unknown Het
Gab1 G T 8: 81,515,388 (GRCm39) P310Q probably damaging Het
Galnt18 A G 7: 111,215,699 (GRCm39) probably benign Het
Gm28042 C A 2: 119,869,370 (GRCm39) P355Q probably damaging Het
H2-DMa A G 17: 34,357,116 (GRCm39) T205A possibly damaging Het
Hnf4g A T 3: 3,718,011 (GRCm39) D420V probably benign Het
Ift70b T C 2: 75,767,760 (GRCm39) K331R probably benign Het
Il1b A G 2: 129,207,989 (GRCm39) V164A probably damaging Het
Loxhd1 A G 18: 77,409,364 (GRCm39) T203A possibly damaging Het
Lsamp C T 16: 41,775,682 (GRCm39) P178S probably damaging Het
Mcm6 T C 1: 128,277,155 (GRCm39) S223G possibly damaging Het
Misp G T 10: 79,661,777 (GRCm39) V65L possibly damaging Het
Mov10 A G 3: 104,706,912 (GRCm39) V666A probably benign Het
Mycbp2 A T 14: 103,485,194 (GRCm39) D1102E probably damaging Het
Myef2 G T 2: 124,939,860 (GRCm39) probably null Het
Myo1e T A 9: 70,303,216 (GRCm39) I1079N probably damaging Het
Nisch G T 14: 30,899,228 (GRCm39) probably benign Het
Obox7 T C 7: 14,399,346 (GRCm39) S191P probably benign Het
Or11h7 T C 14: 50,891,465 (GRCm39) V257A probably benign Het
Or13p10 A G 4: 118,523,385 (GRCm39) I224V probably damaging Het
Or14c40 C T 7: 86,313,331 (GRCm39) L154F probably benign Het
Or1j11 G A 2: 36,311,658 (GRCm39) V83M probably benign Het
Or5w14 A T 2: 87,541,422 (GRCm39) V276D possibly damaging Het
Or7d9 A G 9: 20,197,873 (GRCm39) R301G probably damaging Het
Phf1 T C 17: 27,156,333 (GRCm39) S492P possibly damaging Het
Phyh A T 2: 4,943,164 (GRCm39) N337I probably damaging Het
Poteg A T 8: 27,985,060 (GRCm39) probably benign Het
Prag1 G T 8: 36,571,500 (GRCm39) K694N probably damaging Het
Proser2 C T 2: 6,107,870 (GRCm39) E49K probably damaging Het
Pskh1 T C 8: 106,656,389 (GRCm39) V355A possibly damaging Het
Psmc2 T C 5: 22,004,549 (GRCm39) V182A possibly damaging Het
Rbfox1 A G 16: 7,124,333 (GRCm39) probably benign Het
Slc26a7 A T 4: 14,621,221 (GRCm39) I55K possibly damaging Het
Slc5a8 G A 10: 88,761,648 (GRCm39) probably null Het
Slitrk3 T C 3: 72,957,672 (GRCm39) R367G probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spata31 A G 13: 65,068,953 (GRCm39) E367G probably benign Het
Srrm3 A T 5: 135,863,892 (GRCm39) probably null Het
Ssmem1 T C 6: 30,517,507 (GRCm39) S6P probably damaging Het
Swap70 A G 7: 109,821,034 (GRCm39) D6G probably benign Het
Syt1 T C 10: 108,419,776 (GRCm39) E295G probably damaging Het
Tap2 A T 17: 34,424,927 (GRCm39) I192F possibly damaging Het
Tgoln1 C T 6: 72,591,068 (GRCm39) R348H probably damaging Het
Tln2 C T 9: 67,134,389 (GRCm39) V1373I possibly damaging Het
Tmc2 A G 2: 130,089,854 (GRCm39) D613G possibly damaging Het
Tmem62 T A 2: 120,837,483 (GRCm39) Y597N probably benign Het
Trhr2 T A 8: 123,084,185 (GRCm39) T272S probably damaging Het
Vmn2r92 T C 17: 18,372,198 (GRCm39) S3P probably benign Het
Wdfy3 A T 5: 102,089,313 (GRCm39) I627N probably damaging Het
Zfhx4 T C 3: 5,478,076 (GRCm39) S3564P probably damaging Het
Zfp467 T G 6: 48,416,013 (GRCm39) E213A possibly damaging Het
Zfp746 T G 6: 48,041,411 (GRCm39) K437N probably damaging Het
Zfp853 A G 5: 143,274,840 (GRCm39) probably benign Het
Zranb1 T A 7: 132,551,496 (GRCm39) V49D 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
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
R9352:Irf4 UTSW 13 30,936,706 (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'- ACACTCAAGTGTTCCACCTGCTG -3'
(R):5'- CTGCTGTGTGTCAAAGAGCTTGC -3'

Sequencing Primer
(F):5'- tgttccacCTGCTGTCCTTC -3'
(R):5'- GCAAGTCTGGTCTCTTTCTAGC -3'
Posted On 2014-05-09