Incidental Mutation 'R0057:Irak4'
ID 16354
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 038351-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.463) question?
Stock # R0057 (G1)
Quality Score
Status Validated
Chromosome 15
Chromosomal Location 94441495-94466198 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 94451753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 115 (R115S)
Ref Sequence ENSEMBL: ENSMUSP00000104871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074936] [ENSMUST00000109248]
AlphaFold Q8R4K2
Predicted Effect probably benign
Transcript: ENSMUST00000074936
AA Change: R115S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000074471
Gene: ENSMUSG00000059883
AA Change: R115S

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 benign
Transcript: ENSMUST00000109248
AA Change: R115S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000104871
Gene: ENSMUSG00000059883
AA Change: R115S

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 0.0898 question?
Coding Region Coverage
  • 1x: 90.1%
  • 3x: 87.8%
  • 10x: 82.7%
  • 20x: 75.7%
Validation Efficiency 89% (65/73)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,832,385 (GRCm39) F1309L possibly damaging Het
Abcc6 C T 7: 45,669,567 (GRCm39) A163T probably benign Het
Adam23 T A 1: 63,610,078 (GRCm39) H693Q probably damaging Het
Afg3l2 A G 18: 67,556,156 (GRCm39) F392L probably damaging Het
Ak9 A T 10: 41,268,724 (GRCm39) T1055S probably benign Het
Ap5z1 T C 5: 142,456,144 (GRCm39) probably benign Het
Arhgef10l A G 4: 140,338,529 (GRCm39) probably benign Het
Bloc1s6 T A 2: 122,586,141 (GRCm39) probably benign Het
Caskin1 A G 17: 24,723,870 (GRCm39) N886S probably damaging Het
Celsr1 A C 15: 85,914,963 (GRCm39) S1003R probably benign Het
Ctse G T 1: 131,591,109 (GRCm39) D97Y probably damaging Het
Cux1 T A 5: 136,285,136 (GRCm39) I505F probably damaging Het
Dcaf11 T C 14: 55,806,767 (GRCm39) V490A probably benign Het
Dscam A C 16: 96,474,936 (GRCm39) W1209G probably damaging Het
Emc8 A G 8: 121,385,822 (GRCm39) probably benign Het
Entpd6 A G 2: 150,600,748 (GRCm39) K152R probably null Het
Eps8l2 C T 7: 140,922,884 (GRCm39) T49I probably benign Het
Fcsk C T 8: 111,620,400 (GRCm39) probably benign Het
Gm12251 C A 11: 58,283,867 (GRCm39) probably benign Het
Gna11 A G 10: 81,366,774 (GRCm39) M312T probably benign Het
Hacd2 T A 16: 34,895,997 (GRCm39) V105D probably damaging Het
Il17a T A 1: 20,803,881 (GRCm39) I92N probably damaging Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Jarid2 C T 13: 45,038,332 (GRCm39) H77Y probably damaging Het
Kcnk6 A T 7: 28,925,088 (GRCm39) L176Q probably damaging Het
Kmt2b A T 7: 30,276,217 (GRCm39) probably benign Het
Kremen2 A C 17: 23,962,202 (GRCm39) I210S possibly damaging Het
Ldah T C 12: 8,288,432 (GRCm39) probably benign Het
Lgals9 A T 11: 78,862,262 (GRCm39) probably benign Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mfsd4b4 T A 10: 39,891,097 (GRCm38) probably benign Het
Msh4 C T 3: 153,575,318 (GRCm39) A686T probably benign Het
Mycbp2 T C 14: 103,389,578 (GRCm39) N3411D probably damaging Het
Myt1l A G 12: 29,892,611 (GRCm39) probably null Het
Nmbr A G 10: 14,636,268 (GRCm39) N79S probably damaging Het
Npsr1 A T 9: 24,211,723 (GRCm39) I84F probably damaging Het
Or52h1 G T 7: 103,829,536 (GRCm39) H26Q probably benign Het
Or5m10b C A 2: 85,699,597 (GRCm39) Y220* probably null Het
Or6z5 T C 7: 6,477,679 (GRCm39) L190P probably damaging Het
Prlr A G 15: 10,328,509 (GRCm39) Y328C probably damaging Het
Rasal3 A G 17: 32,610,357 (GRCm39) S977P probably benign Het
Ros1 C T 10: 52,056,287 (GRCm39) V68I probably benign Het
Shmt2 G A 10: 127,356,917 (GRCm39) T31M possibly damaging Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Snrnp200 C G 2: 127,079,827 (GRCm39) L1899V probably damaging Het
Snrnp48 T A 13: 38,400,356 (GRCm39) C154* probably null Het
Tdrd6 G A 17: 43,928,052 (GRCm39) probably benign Het
Tmem175 C T 5: 108,787,428 (GRCm39) H92Y probably damaging Het
Tom1l1 G A 11: 90,575,975 (GRCm39) probably benign Het
Top3a C T 11: 60,631,510 (GRCm39) A951T probably benign Het
Tram2 C T 1: 21,076,378 (GRCm39) R184Q probably damaging Het
Trpc4ap T C 2: 155,482,406 (GRCm39) E528G possibly damaging Het
Vwa7 G A 17: 35,243,523 (GRCm39) S710N possibly damaging Het
Zfa-ps A T 10: 52,421,202 (GRCm39) noncoding transcript Het
Zfp770 T A 2: 114,027,713 (GRCm39) R119* probably null 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
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
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
Posted On 2013-01-20