Incidental Mutation 'R6280:Irak4'
ID 507930
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 044450-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.463) question?
Stock # R6280 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 94441495-94466198 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 94449691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 57 (E57*)
Ref Sequence ENSEMBL: ENSMUSP00000104871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074936] [ENSMUST00000109248]
AlphaFold Q8R4K2
Predicted Effect probably null
Transcript: ENSMUST00000074936
AA Change: E57*
SMART Domains Protein: ENSMUSP00000074471
Gene: ENSMUSG00000059883
AA Change: E57*

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
AA Change: E57*
SMART Domains Protein: ENSMUSP00000104871
Gene: ENSMUSG00000059883
AA Change: E57*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138306
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (75/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,311,619 (GRCm39) D1930N probably benign Het
Adam8 A G 7: 139,564,720 (GRCm39) L667S probably damaging Het
Adcy4 A T 14: 56,016,500 (GRCm39) I317N probably damaging Het
Agpat3 A G 10: 78,120,872 (GRCm39) F102S probably damaging Het
Apbb2 A T 5: 66,522,325 (GRCm39) W443R probably damaging Het
BC049715 T A 6: 136,817,229 (GRCm39) Y156* probably null Het
Bpifc C T 10: 85,813,576 (GRCm39) V323I probably benign Het
Camp T G 9: 109,676,577 (GRCm39) I149L probably benign Het
Cfap20dc T G 14: 8,473,414 (GRCm38) probably null Het
Cibar2 A G 8: 120,898,858 (GRCm39) I94T possibly damaging Het
Cnih1 A G 14: 47,025,634 (GRCm39) probably null Het
Col18a1 A T 10: 76,948,323 (GRCm39) probably benign Het
Dsg4 A T 18: 20,599,724 (GRCm39) D780V probably damaging Het
Dync1i1 G A 6: 5,972,084 (GRCm39) V442I probably benign Het
Fam83g G T 11: 61,594,008 (GRCm39) S514I probably benign Het
Fbxo7 A G 10: 85,864,969 (GRCm39) N93D probably benign Het
Fgf20 G T 8: 40,734,153 (GRCm39) S76* probably null Het
Foxi1 A G 11: 34,157,972 (GRCm39) F18L probably damaging Het
Fxr1 G A 3: 34,100,401 (GRCm39) probably benign Het
Gon4l T A 3: 88,798,195 (GRCm39) L800H probably damaging Het
Gpn3 T A 5: 122,512,022 (GRCm39) S33T probably benign Het
Gria4 T C 9: 4,456,072 (GRCm39) M743V probably damaging Het
Hira A G 16: 18,729,457 (GRCm39) N109D probably damaging Het
Hsd3b3 A G 3: 98,660,621 (GRCm39) probably null Het
Hsf2 T G 10: 57,387,591 (GRCm39) S370A probably benign Het
Htt T A 5: 35,028,103 (GRCm39) D1786E probably benign Het
Ifit1bl2 T A 19: 34,597,534 (GRCm39) R27S possibly damaging Het
Il17rb G A 14: 29,724,928 (GRCm39) A186V probably benign Het
Kcnh2 T A 5: 24,536,921 (GRCm39) H221L probably benign Het
Kdm2b T C 5: 123,016,687 (GRCm39) N1149D probably damaging Het
Kif26a A G 12: 112,141,303 (GRCm39) H702R probably damaging Het
Kmt2e T C 5: 23,704,514 (GRCm39) S1236P possibly damaging Het
Krt77 T A 15: 101,773,910 (GRCm39) D248V probably damaging Het
Lgals3bp T C 11: 118,284,106 (GRCm39) N52S possibly damaging Het
Lhfpl6 T C 3: 53,167,935 (GRCm39) Y170H probably damaging Het
Lpin2 A G 17: 71,539,243 (GRCm39) probably benign Het
Lrig3 T C 10: 125,846,848 (GRCm39) I872T probably benign Het
Lrit3 T C 3: 129,582,412 (GRCm39) E525G probably damaging Het
Lrp1 T C 10: 127,425,453 (GRCm39) T726A probably benign Het
Mep1a A T 17: 43,813,283 (GRCm39) N46K probably damaging Het
Muc16 C A 9: 18,490,613 (GRCm39) probably null Het
N4bp1 A C 8: 87,579,794 (GRCm39) N669K possibly damaging Het
Nelfcd A G 2: 174,257,739 (GRCm39) D26G probably benign Het
Neu4 G A 1: 93,952,873 (GRCm39) S414N probably damaging Het
Nudt9 A G 5: 104,212,935 (GRCm39) D336G probably benign Het
Obscn C A 11: 58,954,509 (GRCm39) G3691V possibly damaging Het
Or4c52 A C 2: 89,845,393 (GRCm39) I40L possibly damaging Het
Or5t17 A G 2: 86,832,364 (GRCm39) N17S probably damaging Het
Pdgfd T A 9: 6,288,627 (GRCm39) S94T probably benign Het
Picalm A G 7: 89,826,770 (GRCm39) H290R probably benign Het
Pou2f3 A T 9: 43,050,634 (GRCm39) L242Q probably damaging Het
Pou2f3 G T 9: 43,050,635 (GRCm39) L242M probably damaging Het
Prkd3 C T 17: 79,289,360 (GRCm39) G187D probably damaging Het
Pwp1 A G 10: 85,710,326 (GRCm39) S49G probably damaging Het
Ralgapa2 A G 2: 146,184,129 (GRCm39) L1626P probably damaging Het
Resf1 T C 6: 149,228,555 (GRCm39) S534P probably damaging Het
Rin2 A G 2: 145,702,939 (GRCm39) Y545C probably damaging Het
Rwdd4a A G 8: 47,995,832 (GRCm39) T71A probably benign Het
Senp7 T C 16: 55,982,738 (GRCm39) F504L possibly damaging Het
Slc12a6 A G 2: 112,167,703 (GRCm39) T231A probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc34a1 A G 13: 24,006,377 (GRCm39) S468G probably benign Het
Slc4a10 A G 2: 62,112,310 (GRCm39) N697S probably benign Het
Spint1 T A 2: 119,075,759 (GRCm39) V194E possibly damaging Het
Sptlc2 A T 12: 87,434,905 (GRCm39) M14K probably benign Het
Stard9 A G 2: 120,531,608 (GRCm39) K2622E probably benign Het
Tbc1d5 T C 17: 51,089,338 (GRCm39) N614S probably benign Het
Tdpoz2 A T 3: 93,559,190 (GRCm39) C261S probably benign Het
Tmem150b A T 7: 4,727,373 (GRCm39) I44N probably benign Het
Ttn A G 2: 76,608,502 (GRCm39) L17807P probably damaging Het
Vcan G A 13: 89,873,492 (GRCm39) R121W probably damaging Het
Vmn2r15 T A 5: 109,441,291 (GRCm39) H189L possibly damaging Het
Vmn2r19 A G 6: 123,313,212 (GRCm39) S761G probably benign Het
Wdr11 A T 7: 129,200,830 (GRCm39) K34* probably null Het
Zfp120 A T 2: 149,959,964 (GRCm39) S141R possibly damaging Het
Zfp462 C G 4: 55,010,253 (GRCm39) P740A 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
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
R8222:Irak4 UTSW 15 94,459,110 (GRCm39) splice site probably null
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'- CTTTGCGCCTTGTTGGTATC -3'
(R):5'- TCGGGTCTGTTCATTACACGAA -3'

Sequencing Primer
(F):5'- GGTATCTTTCCTGACTCTCTCACAG -3'
(R):5'- AAAACGATTCTGGGTCTGCC -3'
Posted On 2018-03-15