Incidental Mutation 'R3753:Irak4'
ID 271335
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.463) question?
Stock # R3753 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 94441495-94466198 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94459476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 364 (I364T)
Ref Sequence ENSEMBL: ENSMUSP00000104871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074936] [ENSMUST00000109248]
AlphaFold Q8R4K2
Predicted Effect probably damaging
Transcript: ENSMUST00000074936
AA Change: I364T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074471
Gene: ENSMUSG00000059883
AA Change: I364T

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 damaging
Transcript: ENSMUST00000109248
AA Change: I364T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104871
Gene: ENSMUSG00000059883
AA Change: I364T

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
Meta Mutation Damage Score 0.6371 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 98% (49/50)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,121,677 (GRCm39) I74N probably damaging Het
Acp7 T A 7: 28,316,085 (GRCm39) Y167F probably damaging Het
Acsl1 A T 8: 46,966,602 (GRCm39) probably benign Het
Bcr T C 10: 74,971,772 (GRCm39) V599A probably benign Het
Brd1 C T 15: 88,573,821 (GRCm39) V1093I possibly damaging Het
Cep152 A G 2: 125,466,972 (GRCm39) probably benign Het
Cstf2t T G 19: 31,060,695 (GRCm39) L77R probably damaging Het
Drd3 C T 16: 43,637,466 (GRCm39) R254W probably damaging Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Fam187a C T 11: 102,776,675 (GRCm39) P160S probably benign Het
Fat1 G A 8: 45,478,516 (GRCm39) E2521K probably damaging Het
Fbln1 T A 15: 85,111,279 (GRCm39) C144* probably null Het
Flii T C 11: 60,606,306 (GRCm39) D1128G probably benign Het
Gask1a A T 9: 121,794,899 (GRCm39) D351V probably damaging Het
Gata3 T A 2: 9,873,651 (GRCm39) H281L probably benign Het
Iqsec3 C T 6: 121,353,214 (GRCm39) A1135T probably benign Het
Mib2 A G 4: 155,739,741 (GRCm39) F810S probably damaging Het
Nbn G A 4: 15,964,269 (GRCm39) V115I probably damaging Het
Nfyc G T 4: 120,622,527 (GRCm39) probably benign Het
Nup210 A T 6: 90,998,377 (GRCm39) probably null Het
Or2g1 T C 17: 38,107,123 (GRCm39) S263P possibly damaging Het
Or2t48 C T 11: 58,420,516 (GRCm39) A99T probably benign Het
Or8j3b C T 2: 86,205,259 (GRCm39) V166I possibly damaging Het
Paqr8 A G 1: 21,005,856 (GRCm39) T337A probably benign Het
Plce1 T C 19: 38,640,278 (GRCm39) V508A probably benign Het
Prmt2 G T 10: 76,061,137 (GRCm39) D116E probably benign Het
Prss51 T A 14: 64,333,624 (GRCm39) probably benign Het
Prune2 T A 19: 17,102,818 (GRCm39) V2659D probably benign Het
Ptpn3 C T 4: 57,270,144 (GRCm39) R6H probably damaging Het
Ramac C T 7: 81,417,395 (GRCm39) R32C probably damaging Het
Rdh12 C T 12: 79,260,446 (GRCm39) R181* probably null Het
Rsf1 T A 7: 97,311,359 (GRCm39) D696E probably benign Het
Sh3rf2 C T 18: 42,244,373 (GRCm39) R280C probably damaging Het
Slco6d1 T A 1: 98,427,502 (GRCm39) I611K probably damaging Het
Snph G A 2: 151,435,374 (GRCm39) P449L probably benign Het
Spg7 G C 8: 123,814,112 (GRCm39) R457P probably damaging Het
Swap70 T A 7: 109,867,088 (GRCm39) W297R probably damaging Het
Tcaf3 T A 6: 42,566,738 (GRCm39) I784F probably damaging Het
Tcstv2c A T 13: 120,616,167 (GRCm39) D2V possibly damaging Het
Tox2 T A 2: 163,156,243 (GRCm39) I138N probably damaging Het
Trim54 A C 5: 31,291,488 (GRCm39) E203A probably damaging Het
Vmn2r19 A T 6: 123,292,548 (GRCm39) T197S possibly damaging Het
Vmn2r28 T A 7: 5,491,026 (GRCm39) H407L probably damaging Het
Wdr19 G A 5: 65,382,069 (GRCm39) V430M probably damaging 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
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
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'- AGCATGTTTTCCACCTTCAAAT -3'
(R):5'- AAAGACTCATGCACCAAAATATTCT -3'

Sequencing Primer
(F):5'- CTGACTTTGGGCTTGCA -3'
(R):5'- GCTTAGCAAAGTAAAGGCTCCTGC -3'
Posted On 2015-03-18