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

Genbank: NM_013674; MGI: 1096873

Is this an essential gene? Possibly essential (E-score: 0.637) question?
Stock # IGL01154
Quality Score
Status
Chromosome 13
Chromosomal Location 30749226-30766976 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30757421 bp (GRCm38)
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: 76,950,275 V124I probably damaging Het
2210408I21Rik T G 13: 77,281,094 F767V probably benign Het
A2m C A 6: 121,673,542 S1203* probably null Het
Abcc3 T C 11: 94,359,232 probably benign Het
Adamts13 T C 2: 27,006,194 Y1200H probably benign Het
Aldh1l2 T C 10: 83,520,373 D51G probably damaging Het
Apc2 A G 10: 80,313,069 E1319G possibly damaging Het
Arap3 A T 18: 37,996,734 S125T probably benign Het
Atp2b1 T A 10: 98,996,888 V417E probably damaging Het
Bpifa1 T A 2: 154,144,000 D78E probably benign Het
Catsperb C A 12: 101,625,681 A1090E possibly damaging Het
Ceacam9 C A 7: 16,723,961 T138K probably damaging Het
Cenpf T A 1: 189,680,333 E244D probably benign Het
Cep135 A T 5: 76,606,796 probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Col15a1 A C 4: 47,208,450 T6P possibly damaging Het
Cyp11b1 T A 15: 74,838,534 Q306L probably benign Het
Defa22 T A 8: 21,163,037 probably null Het
Dnah5 A T 15: 28,458,656 T4480S possibly damaging Het
Fastkd1 T C 2: 69,690,060 probably null Het
Flt1 A G 5: 147,576,156 Y1124H possibly damaging Het
Fsd1l A G 4: 53,701,074 M469V probably benign Het
Fxr2 T C 11: 69,641,433 probably benign Het
Gm10801 A T 2: 98,663,983 Y135F probably benign Het
Grm4 A T 17: 27,434,737 C699* probably null Het
Hcn4 A G 9: 58,859,079 T677A unknown Het
Igkv9-123 G T 6: 67,954,534 probably benign Het
Jakmip2 T C 18: 43,590,679 probably benign Het
Kmt2c A G 5: 25,284,399 V1134A probably damaging Het
Limch1 G T 5: 66,745,958 E17* probably null Het
Nap1l1 T A 10: 111,486,675 N72K probably damaging Het
Olfr1265 T C 2: 90,037,468 L183P probably damaging Het
Olfr574 T C 7: 102,948,839 S115P probably damaging Het
Otud6b A T 4: 14,811,732 Y304N probably damaging Het
Pdcd10 A C 3: 75,541,233 M8R probably damaging Het
Ppip5k1 T C 2: 121,343,179 T404A probably damaging Het
Ppp2r2d C T 7: 138,882,211 A197V probably benign Het
Psg25 C T 7: 18,524,699 D351N probably benign Het
Sbno1 A T 5: 124,410,249 I87N probably damaging Het
Stfa2l1 C T 16: 36,159,937 probably benign Het
Sugp2 T A 8: 70,242,699 D107E probably damaging Het
Syne1 G T 10: 5,360,848 F576L probably damaging Het
Syne3 A G 12: 104,958,069 F357S probably benign Het
Tenm2 A G 11: 36,041,544 L1741P probably damaging Het
Tgs1 A T 4: 3,585,473 K117* probably null Het
Tram1 C T 1: 13,579,449 probably null Het
Trank1 T A 9: 111,386,400 D1799E probably benign Het
Ttc14 A T 3: 33,803,099 Y198F probably benign Het
Ube3b A G 5: 114,406,252 N570S probably null Het
Ube4b A G 4: 149,365,470 F412S probably benign Het
Vac14 T C 8: 110,653,607 probably benign Het
Vmn2r65 T C 7: 84,943,521 T493A probably benign Het
Zfp408 T C 2: 91,648,006 probably benign Het
Zfp580 C T 7: 5,053,268 T209I possibly damaging Het
Other mutations in Irf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Irf4 APN 13 30751784 missense probably damaging 1.00
IGL01669:Irf4 APN 13 30757471 missense probably damaging 0.99
IGL02729:Irf4 APN 13 30753591 critical splice donor site probably null
IGL03197:Irf4 APN 13 30763520 splice site probably benign
honey UTSW 13 30751751 missense probably damaging 0.99
Honey2 UTSW 13 30761490 splice site probably benign
miel UTSW 13 30761462 missense probably benign 0.00
R1300:Irf4 UTSW 13 30757585 missense probably damaging 0.98
R1656:Irf4 UTSW 13 30757502 missense probably benign
R1914:Irf4 UTSW 13 30761462 missense probably benign 0.00
R1915:Irf4 UTSW 13 30761462 missense probably benign 0.00
R3889:Irf4 UTSW 13 30761490 splice site probably benign
R4648:Irf4 UTSW 13 30763597 missense probably benign 0.00
R5553:Irf4 UTSW 13 30751828 missense probably damaging 1.00
R5913:Irf4 UTSW 13 30757758 missense probably benign
R7809:Irf4 UTSW 13 30757432 missense probably benign 0.07
R7894:Irf4 UTSW 13 30753452 missense probably benign
R8051:Irf4 UTSW 13 30761473 missense probably damaging 0.98
R8393:Irf4 UTSW 13 30763627 missense probably damaging 0.99
R8686:Irf4 UTSW 13 30761450 missense possibly damaging 0.73
R8856:Irf4 UTSW 13 30761431 missense probably damaging 1.00
R9166:Irf4 UTSW 13 30757501 missense probably benign
R9352:Irf4 UTSW 13 30752723 missense probably benign
Z1177:Irf4 UTSW 13 30750661 missense probably damaging 0.98
Z1177:Irf4 UTSW 13 30750663 missense probably damaging 1.00
Posted On 2013-06-21