Incidental Mutation 'R8222:Irak4'
ID 652033
Institutional Source Beutler Lab
Gene Symbol Irak4
Ensembl Gene ENSMUSG00000059883
Gene Name interleukin-1 receptor-associated kinase 4
Synonyms 9330209D03Rik, 8430405M07Rik, IRAK-4, NY-REN-64
MMRRC Submission 067640-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.463) question?
Stock # R8222 (G1)
Quality Score 74.0075
Status Validated
Chromosome 15
Chromosomal Location 94441495-94466198 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 94459110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074936] [ENSMUST00000109248]
AlphaFold Q8R4K2
Predicted Effect probably null
Transcript: ENSMUST00000074936
SMART Domains Protein: ENSMUSP00000074471
Gene: ENSMUSG00000059883

DomainStartEndE-ValueType
PDB:1WH4|A 1 114 1e-78 PDB
Pfam:Pkinase_Tyr 187 454 3.3e-53 PFAM
Pfam:Pkinase 187 456 4.9e-53 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109248
SMART Domains Protein: ENSMUSP00000104871
Gene: ENSMUSG00000059883

DomainStartEndE-ValueType
Pfam:Death 20 101 1.6e-6 PFAM
Pfam:Pkinase_Tyr 187 452 1.9e-51 PFAM
Pfam:Pkinase 188 452 1.3e-54 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous mutant mice exhibit defects of the innate immune system and show increased susceptibility to bacterial infection. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted(5) Chemically induced(1)

Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh18a1 C T 19: 40,562,296 (GRCm39) V243I probably benign Het
Ankrd11 A T 8: 123,622,347 (GRCm39) S481T probably damaging Het
Atg2b A G 12: 105,618,475 (GRCm39) I859T possibly damaging Het
B4galt3 G A 1: 171,100,253 (GRCm39) R141Q possibly damaging Het
Bace1 T C 9: 45,768,491 (GRCm39) V262A probably damaging Het
BC106179 A T 16: 23,043,055 (GRCm39) I47N noncoding transcript Het
Brpf1 C T 6: 113,286,999 (GRCm39) P76S probably benign Het
Cdk1 A G 10: 69,176,426 (GRCm39) V227A probably benign Het
Ceacam20 T C 7: 19,705,618 (GRCm39) V203A probably benign Het
Cfap251 T A 5: 123,440,486 (GRCm39) Y1091N probably damaging Het
Cma2 T C 14: 56,210,727 (GRCm39) V194A probably benign Het
Cnnm4 A G 1: 36,545,617 (GRCm39) D749G probably benign Het
Cyp11b2 T C 15: 74,728,059 (GRCm39) T8A probably benign Het
Dlk2 A G 17: 46,613,384 (GRCm39) H170R probably benign Het
Esyt1 C T 10: 128,347,647 (GRCm39) R987Q possibly damaging Het
Ganc T C 2: 120,276,933 (GRCm39) I665T probably damaging Het
Gas6 T C 8: 13,520,276 (GRCm39) T471A probably benign Het
Grik2 A G 10: 49,449,744 (GRCm39) F153L probably benign Het
Heatr5b A G 17: 79,109,130 (GRCm39) V1043A possibly damaging Het
Ipo5 A G 14: 121,157,414 (GRCm39) D84G probably benign Het
Lrp4 T A 2: 91,305,086 (GRCm39) C238S probably damaging Het
Mau2 A T 8: 70,485,827 (GRCm39) probably null Het
Mdn1 T C 4: 32,707,477 (GRCm39) F1589L probably benign Het
Mlxip T G 5: 123,585,596 (GRCm39) S662A probably benign Het
Mn1 A T 5: 111,566,546 (GRCm39) N172I probably damaging Het
Mup2 A C 4: 60,138,454 (GRCm39) D79E probably benign Het
Nab2 C A 10: 127,498,645 (GRCm39) V475L probably benign Het
Nlrp3 A G 11: 59,439,614 (GRCm39) E397G probably damaging Het
Odf2l A G 3: 144,833,799 (GRCm39) E153G probably damaging Het
Or13p10 T C 4: 118,523,113 (GRCm39) L133P probably damaging Het
Or51f5 G T 7: 102,424,099 (GRCm39) D123Y probably damaging Het
Or5d36 T A 2: 87,901,381 (GRCm39) Y115F probably benign Het
Or5l13 T C 2: 87,779,788 (GRCm39) N263S probably benign Het
Pkdrej T A 15: 85,701,640 (GRCm39) H1432L probably benign Het
Plec C T 15: 76,063,374 (GRCm39) R2232H possibly damaging Het
Polk T C 13: 96,632,023 (GRCm39) M317V possibly damaging Het
Ppp4r3a A G 12: 101,008,164 (GRCm39) S758P probably benign Het
Pramel26 A T 4: 143,536,893 (GRCm39) D479E possibly damaging Het
Prdm9 A G 17: 15,765,035 (GRCm39) S582P possibly damaging Het
R3hcc1l T A 19: 42,564,616 (GRCm39) L643H probably damaging Het
Rassf8 G A 6: 145,765,783 (GRCm39) V38M unknown Het
Reln G A 5: 22,136,475 (GRCm39) Q2518* probably null Het
Sel1l3 A G 5: 53,345,296 (GRCm39) probably null Het
Serpina3m A T 12: 104,358,960 (GRCm39) D324V possibly damaging Het
Slc12a6 T A 2: 112,169,870 (GRCm39) probably null Het
Slc25a3 A G 10: 90,954,053 (GRCm39) W219R probably damaging Het
Sort1 T A 3: 108,241,951 (GRCm39) V299E probably benign Het
Stx6 A G 1: 155,073,889 (GRCm39) D233G possibly damaging Het
Tefm A G 11: 80,031,230 (GRCm39) V2A Het
Tfdp2 T C 9: 96,192,666 (GRCm39) S190P possibly damaging Het
Tmprss7 A T 16: 45,478,461 (GRCm39) I755N probably damaging Het
Trpm8 A G 1: 88,253,390 (GRCm39) probably null Het
Ube2q2l A G 6: 136,377,882 (GRCm39) I316T probably damaging Het
Ugt2a2 A G 5: 87,608,369 (GRCm39) L490P probably damaging Het
Utp20 A G 10: 88,614,234 (GRCm39) L1240P probably damaging Het
Vmn1r159 G T 7: 22,542,608 (GRCm39) Y141* probably null Het
Vmn2r56 T A 7: 12,444,960 (GRCm39) Y431F probably benign Het
Other mutations in Irak4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00679:Irak4 APN 15 94,454,509 (GRCm39) missense probably benign 0.09
IGL00688:Irak4 APN 15 94,464,744 (GRCm39) missense possibly damaging 0.68
IGL01870:Irak4 APN 15 94,445,751 (GRCm39) missense probably benign 0.28
IGL02740:Irak4 APN 15 94,464,925 (GRCm39) makesense probably null
IGL02897:Irak4 APN 15 94,451,872 (GRCm39) missense probably benign 0.00
IGL03290:Irak4 APN 15 94,449,780 (GRCm39) missense probably benign 0.01
otiose UTSW 15 94,459,365 (GRCm39) missense probably damaging 1.00
R0057:Irak4 UTSW 15 94,451,753 (GRCm39) missense probably benign 0.00
R2010:Irak4 UTSW 15 94,449,687 (GRCm39) missense probably damaging 1.00
R3751:Irak4 UTSW 15 94,459,476 (GRCm39) missense probably damaging 1.00
R3752:Irak4 UTSW 15 94,459,476 (GRCm39) missense probably damaging 1.00
R3753:Irak4 UTSW 15 94,459,476 (GRCm39) missense probably damaging 1.00
R3973:Irak4 UTSW 15 94,452,621 (GRCm39) missense possibly damaging 0.73
R4687:Irak4 UTSW 15 94,464,704 (GRCm39) missense probably damaging 1.00
R4704:Irak4 UTSW 15 94,464,781 (GRCm39) splice site probably null
R5001:Irak4 UTSW 15 94,456,154 (GRCm39) missense possibly damaging 0.91
R5392:Irak4 UTSW 15 94,454,566 (GRCm39) missense probably benign 0.39
R5392:Irak4 UTSW 15 94,454,565 (GRCm39) missense probably benign
R6280:Irak4 UTSW 15 94,449,691 (GRCm39) nonsense probably null
R6390:Irak4 UTSW 15 94,459,367 (GRCm39) missense probably damaging 1.00
R7643:Irak4 UTSW 15 94,456,709 (GRCm39) missense probably benign 0.05
R8209:Irak4 UTSW 15 94,456,244 (GRCm39) missense probably damaging 1.00
R8226:Irak4 UTSW 15 94,456,244 (GRCm39) missense probably damaging 1.00
R8512:Irak4 UTSW 15 94,464,659 (GRCm39) missense probably benign
R8678:Irak4 UTSW 15 94,464,666 (GRCm39) missense probably benign 0.06
R9259:Irak4 UTSW 15 94,456,726 (GRCm39) missense probably damaging 1.00
R9287:Irak4 UTSW 15 94,460,917 (GRCm39) missense possibly damaging 0.93
R9685:Irak4 UTSW 15 94,451,812 (GRCm39) missense probably benign 0.22
V8831:Irak4 UTSW 15 94,459,365 (GRCm39) missense probably damaging 1.00
X0019:Irak4 UTSW 15 94,451,881 (GRCm39) missense probably benign 0.00
X0027:Irak4 UTSW 15 94,449,811 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTTCAGTGAACTGTGGGG -3'
(R):5'- CCTAGGATATCCAACAGGTTCTTAGG -3'

Sequencing Primer
(F):5'- AACTGTGGGGTACTTGGTCACC -3'
(R):5'- TATCCAACAGGTTCTTAGGAAGAG -3'
Posted On 2020-09-23