Incidental Mutation 'IGL01154:Irf4'
ID 52633
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Irf4
Ensembl Gene ENSMUSG00000021356
Gene Name interferon regulatory factor 4
Synonyms IRF-4, Spip
Accession Numbers
Essential gene? Possibly essential (E-score: 0.590) question?
Stock # IGL01154
Quality Score
Status
Chromosome 13
Chromosomal Location 30933209-30950959 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30941404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 253 (H253Q)
Ref Sequence ENSEMBL: ENSMUSP00000021784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021784] [ENSMUST00000110307]
AlphaFold Q64287
Predicted Effect possibly damaging
Transcript: ENSMUST00000021784
AA Change: H253Q

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021784
Gene: ENSMUSG00000021356
AA Change: H253Q

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: H252Q

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105936
Gene: ENSMUSG00000021356
AA Change: H252Q

DomainStartEndE-ValueType
IRF 17 130 6.96e-64 SMART
IRF-3 248 417 1.17e-84 SMART
Coding Region Coverage
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
2210408I21Rik T G 13: 77,429,213 (GRCm39) F767V probably benign Het
A2m C A 6: 121,650,501 (GRCm39) S1203* probably null Het
Abcc3 T C 11: 94,250,058 (GRCm39) probably benign Het
Adamts13 T C 2: 26,896,206 (GRCm39) Y1200H probably benign Het
Aldh1l2 T C 10: 83,356,237 (GRCm39) D51G probably damaging Het
Apc2 A G 10: 80,148,903 (GRCm39) E1319G possibly damaging Het
Arap3 A T 18: 38,129,787 (GRCm39) S125T probably benign Het
Atp2b1 T A 10: 98,832,750 (GRCm39) V417E probably damaging Het
Bpifa1 T A 2: 153,985,920 (GRCm39) D78E probably benign Het
Catsperb C A 12: 101,591,940 (GRCm39) A1090E possibly damaging Het
Ceacam9 C A 7: 16,457,886 (GRCm39) T138K probably damaging Het
Cenpf T A 1: 189,412,530 (GRCm39) E244D probably benign Het
Cep135 A T 5: 76,754,643 (GRCm39) probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Col15a1 A C 4: 47,208,450 (GRCm39) T6P possibly damaging Het
Cyp11b1 T A 15: 74,710,383 (GRCm39) Q306L probably benign Het
Defa22 T A 8: 21,653,053 (GRCm39) probably null Het
Dnah5 A T 15: 28,458,802 (GRCm39) T4480S possibly damaging Het
Fastkd1 T C 2: 69,520,404 (GRCm39) probably null Het
Flt1 A G 5: 147,512,966 (GRCm39) Y1124H possibly damaging Het
Fsd1l A G 4: 53,701,074 (GRCm39) M469V probably benign Het
Fxr2 T C 11: 69,532,259 (GRCm39) probably benign Het
Gm10801 A T 2: 98,494,328 (GRCm39) Y135F probably benign Het
Grm4 A T 17: 27,653,711 (GRCm39) C699* probably null Het
Hcn4 A G 9: 58,766,362 (GRCm39) T677A unknown Het
Igkv9-123 G T 6: 67,931,518 (GRCm39) probably benign Het
Jakmip2 T C 18: 43,723,744 (GRCm39) probably benign Het
Kmt2c A G 5: 25,489,397 (GRCm39) V1134A probably damaging Het
Limch1 G T 5: 66,903,301 (GRCm39) E17* probably null Het
Nap1l1 T A 10: 111,322,536 (GRCm39) N72K probably damaging Het
Or4x11 T C 2: 89,867,812 (GRCm39) L183P probably damaging Het
Or51t4 T C 7: 102,598,046 (GRCm39) S115P probably damaging Het
Otud6b A T 4: 14,811,732 (GRCm39) Y304N probably damaging Het
Pdcd10 A C 3: 75,448,540 (GRCm39) M8R probably damaging Het
Ppip5k1 T C 2: 121,173,660 (GRCm39) T404A probably damaging Het
Ppp2r2d C T 7: 138,483,940 (GRCm39) A197V probably benign Het
Psg25 C T 7: 18,258,624 (GRCm39) D351N probably benign Het
Sbno1 A T 5: 124,548,312 (GRCm39) I87N probably damaging Het
Stfa2l1 C T 16: 35,980,307 (GRCm39) probably benign Het
Sugp2 T A 8: 70,695,349 (GRCm39) D107E probably damaging Het
Syne1 G T 10: 5,310,848 (GRCm39) F576L probably damaging Het
Syne3 A G 12: 104,924,328 (GRCm39) F357S probably benign Het
Tenm2 A G 11: 35,932,371 (GRCm39) L1741P probably damaging Het
Tgs1 A T 4: 3,585,473 (GRCm39) K117* probably null Het
Tram1 C T 1: 13,649,673 (GRCm39) probably null Het
Trank1 T A 9: 111,215,468 (GRCm39) D1799E probably benign Het
Ttc14 A T 3: 33,857,248 (GRCm39) Y198F probably benign Het
Ube3b A G 5: 114,544,313 (GRCm39) N570S probably null Het
Ube4b A G 4: 149,449,927 (GRCm39) F412S probably benign Het
Vac14 T C 8: 111,380,239 (GRCm39) probably benign Het
Vmn2r65 T C 7: 84,592,729 (GRCm39) T493A probably benign Het
Zfp408 T C 2: 91,478,351 (GRCm39) probably benign Het
Zfp580 C T 7: 5,056,267 (GRCm39) T209I possibly damaging Het
Other mutations in Irf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Irf4 APN 13 30,935,767 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2013-06-21