Incidental Mutation 'IGL02729:Irf4'
ID 305393
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 # IGL02729
Quality Score
Status
Chromosome 13
Chromosomal Location 30933209-30950959 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 30937574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021784] [ENSMUST00000110307] [ENSMUST00000222125]
AlphaFold Q64287
Predicted Effect probably null
Transcript: ENSMUST00000021784
SMART Domains Protein: ENSMUSP00000021784
Gene: ENSMUSG00000021356

DomainStartEndE-ValueType
IRF 17 130 6.96e-64 SMART
IRF-3 249 418 1.17e-84 SMART
Predicted Effect probably null
Transcript: ENSMUST00000110307
SMART Domains Protein: ENSMUSP00000105936
Gene: ENSMUSG00000021356

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
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,499,455 (GRCm39) E1358G probably benign Het
Alpk1 T A 3: 127,474,721 (GRCm39) L427F possibly damaging Het
Atat1 T C 17: 36,209,283 (GRCm39) T326A probably benign Het
Calcr T A 6: 3,707,595 (GRCm39) H235L probably benign Het
Cdc16 A G 8: 13,829,250 (GRCm39) D512G possibly damaging Het
Cilp G A 9: 65,185,372 (GRCm39) R489Q possibly damaging Het
Ddx4 C T 13: 112,787,946 (GRCm39) probably benign Het
Dennd1c T C 17: 57,373,637 (GRCm39) D612G probably benign Het
Hyal6 A C 6: 24,734,694 (GRCm39) Y209S probably damaging Het
Itgae T C 11: 73,009,029 (GRCm39) probably benign Het
L3mbtl4 C T 17: 68,791,738 (GRCm39) T272I probably benign Het
Lyst T C 13: 13,848,924 (GRCm39) I2037T possibly damaging Het
Lyst C A 13: 13,921,194 (GRCm39) P3380Q possibly damaging Het
Mgat4b A G 11: 50,124,136 (GRCm39) I359V probably benign Het
Mybl1 A T 1: 9,742,795 (GRCm39) D604E probably benign Het
Myh7b A T 2: 155,467,609 (GRCm39) S745C probably damaging Het
Or13c7 C A 4: 43,854,439 (GRCm39) N43K probably damaging Het
Or1ad8 T C 11: 50,897,892 (GRCm39) F31S probably damaging Het
Or6c212 T G 10: 129,559,390 (GRCm39) I8L probably benign Het
Pced1a A T 2: 130,263,823 (GRCm39) H276Q probably benign Het
Pdx1 C A 5: 147,211,424 (GRCm39) P215Q probably benign Het
Pdzd7 T C 19: 45,034,082 (GRCm39) M1V probably null Het
Prrc2b T A 2: 32,098,770 (GRCm39) M621K probably damaging Het
Ptprh T G 7: 4,583,873 (GRCm39) N240H probably damaging Het
Rsph1 T A 17: 31,492,293 (GRCm39) E91V probably damaging Het
Scn1a A G 2: 66,129,994 (GRCm39) C1274R probably damaging Het
Skic2 G A 17: 35,058,581 (GRCm39) P1179S possibly damaging Het
Skint7 C A 4: 111,839,367 (GRCm39) F220L probably benign Het
Slit1 T A 19: 41,591,773 (GRCm39) Y1283F probably damaging Het
Taf1b A G 12: 24,597,624 (GRCm39) probably benign Het
Tars3 C T 7: 65,332,567 (GRCm39) T556M probably damaging Het
Utrn A G 10: 12,596,554 (GRCm39) probably benign Het
Wdr55 A G 18: 36,896,435 (GRCm39) E375G probably benign Het
Zfp276 T C 8: 123,994,555 (GRCm39) Y541H probably damaging Het
Zfp40 C T 17: 23,397,285 (GRCm39) V3I probably damaging Het
Zfp536 T A 7: 37,193,143 (GRCm39) H766L probably damaging Het
Zfyve21 A G 12: 111,791,485 (GRCm39) I157V 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
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 2015-04-16