Incidental Mutation 'R1300:Irf4'
ID 158321
Institutional Source Beutler Lab
Gene Symbol Irf4
Ensembl Gene ENSMUSG00000021356
Gene Name interferon regulatory factor 4
Synonyms IRF-4, Spip
MMRRC Submission 039366-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.590) question?
Stock # R1300 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 30933209-30950959 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30941568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 307 (L307P)
Ref Sequence ENSEMBL: ENSMUSP00000105936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021784] [ENSMUST00000110307]
AlphaFold Q64287
Predicted Effect possibly damaging
Transcript: ENSMUST00000021784
AA Change: L308P

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021784
Gene: ENSMUSG00000021356
AA Change: L308P

DomainStartEndE-ValueType
IRF 17 130 6.96e-64 SMART
IRF-3 249 418 1.17e-84 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110307
AA Change: L307P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105936
Gene: ENSMUSG00000021356
AA Change: L307P

DomainStartEndE-ValueType
IRF 17 130 6.96e-64 SMART
IRF-3 248 417 1.17e-84 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.4%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,283,967 (GRCm39) I2535T probably damaging Het
Adam34l A T 8: 44,079,881 (GRCm39) Y114* probably null Het
Ank3 A G 10: 69,840,495 (GRCm39) I952V probably benign Het
Ankar A C 1: 72,682,323 (GRCm39) V1414G probably benign Het
Arl2 A G 19: 6,191,103 (GRCm39) M10T probably benign Het
Arpp21 A G 9: 111,972,442 (GRCm39) I352T probably damaging Het
Cacna1e T A 1: 154,274,419 (GRCm39) H2162L probably benign Het
Cep170b A C 12: 112,703,691 (GRCm39) M622L probably benign Het
Cped1 T C 6: 22,119,552 (GRCm39) V337A probably benign Het
Cpn2 T A 16: 30,078,481 (GRCm39) T407S probably benign Het
Cpne4 T C 9: 104,870,333 (GRCm39) W263R probably damaging Het
Crtc1 A G 8: 70,840,189 (GRCm39) probably null Het
Cspg4b T C 13: 113,502,694 (GRCm39) F133S probably damaging Het
Dennd5a A T 7: 109,518,614 (GRCm39) I485N probably benign Het
Dnah6 T C 6: 73,101,692 (GRCm39) Q1892R probably benign Het
Dse G A 10: 34,028,411 (GRCm39) A893V probably benign Het
Dsg1a T G 18: 20,465,206 (GRCm39) S466A probably benign Het
Dstyk T C 1: 132,377,651 (GRCm39) V419A probably benign Het
Eif2ak4 T C 2: 118,294,464 (GRCm39) V1125A possibly damaging Het
Ep400 C A 5: 110,821,426 (GRCm39) G2576C probably damaging Het
Eps15l1 A T 8: 73,145,746 (GRCm39) D162E probably damaging Het
Fstl4 C A 11: 52,959,454 (GRCm39) T165N probably benign Het
Gm8674 T C 13: 50,055,758 (GRCm39) noncoding transcript Het
Gtsf2 T A 15: 103,352,780 (GRCm39) L39F possibly damaging Het
Hck A C 2: 152,976,067 (GRCm39) D202A possibly damaging Het
Il12b T A 11: 44,298,903 (GRCm39) probably null Het
Keg1 G A 19: 12,696,368 (GRCm39) R184Q probably damaging Het
Kmt2c T C 5: 25,610,452 (GRCm39) D218G probably damaging Het
Map1b T C 13: 99,569,029 (GRCm39) K1231E unknown Het
Mapkbp1 T C 2: 119,844,136 (GRCm39) Y293H probably benign Het
Mfsd8 A T 3: 40,778,333 (GRCm39) D310E probably benign Het
Mmp9 A T 2: 164,790,876 (GRCm39) D88V probably damaging Het
Muc5ac G T 7: 141,370,666 (GRCm39) C2522F possibly damaging Het
Myo1e A T 9: 70,209,065 (GRCm39) I110F probably damaging Het
Neu1 A T 17: 35,153,314 (GRCm39) Y279F possibly damaging Het
Nhsl1 A G 10: 18,284,209 (GRCm39) H50R probably benign Het
Nlrp3 C T 11: 59,446,594 (GRCm39) S780F possibly damaging Het
Npc1l1 T G 11: 6,177,859 (GRCm39) D517A probably damaging Het
Or14c43 T C 7: 86,114,951 (GRCm39) F111L probably benign Het
Or1e32 T C 11: 73,705,072 (GRCm39) T279A probably benign Het
Or2z2 T C 11: 58,346,667 (GRCm39) Y36C probably damaging Het
Or52e3 G A 7: 102,869,324 (GRCm39) R133Q probably benign Het
P3h2 C A 16: 25,815,986 (GRCm39) E176* probably null Het
Parp10 C A 15: 76,126,190 (GRCm39) D333Y possibly damaging Het
Pcdhb12 C T 18: 37,570,450 (GRCm39) A532V possibly damaging Het
Pde2a A T 7: 101,159,611 (GRCm39) T818S possibly damaging Het
Phf11 A T 14: 59,488,563 (GRCm39) V78D probably damaging Het
Phip A T 9: 82,758,800 (GRCm39) L1450Q probably benign Het
Pinx1 A G 14: 64,156,859 (GRCm39) E262G probably benign Het
Ppargc1a T C 5: 51,706,014 (GRCm39) E19G probably damaging Het
Pum1 T C 4: 130,493,272 (GRCm39) I921T probably damaging Het
Rgs22 T A 15: 36,101,908 (GRCm39) H106L probably benign Het
Slc10a6 T C 5: 103,754,550 (GRCm39) D327G probably benign Het
Syt1 A T 10: 108,467,682 (GRCm39) V205D possibly damaging Het
Tep1 C T 14: 51,064,512 (GRCm39) probably null Het
Thnsl2 T A 6: 71,111,175 (GRCm39) Q231L probably damaging Het
Ttc4 T A 4: 106,524,763 (GRCm39) H304L probably damaging Het
Unc5c G A 3: 141,534,304 (GRCm39) V923M possibly damaging Het
Zfp777 T C 6: 48,002,704 (GRCm39) E506G 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
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
Predicted Primers PCR Primer
(F):5'- GGACATCCTCGTGAAAGAGCTGAC -3'
(R):5'- AGGCAGACACTGCCATTTGAGAC -3'

Sequencing Primer
(F):5'- TGAAAGAGCTGACCACGAC -3'
(R):5'- CTCCATTCTAACAGACTGTGAGGTG -3'
Posted On 2014-02-18