Incidental Mutation 'IGL03290:Irak4'
ID415858
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Irak4
Ensembl Gene ENSMUSG00000059883
Gene Nameinterleukin-1 receptor-associated kinase 4
SynonymsIRAK-4, 8430405M07Rik, NY-REN-64, 9330209D03Rik
Accession Numbers

Ncbi RefSeq: NM_029926; VEGA: OTTMUST00000040437; MGI: 2182474

Is this an essential gene? Probably essential (E-score: 0.760) question?
Stock #IGL03290
Quality Score
Status
Chromosome15
Chromosomal Location94543643-94581815 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 94551899 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 86 (D86E)
Ref Sequence ENSEMBL: ENSMUSP00000104871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074936] [ENSMUST00000109248]
Predicted Effect probably benign
Transcript: ENSMUST00000074936
AA Change: D86E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000074471
Gene: ENSMUSG00000059883
AA Change: D86E

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: D86E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000104871
Gene: ENSMUSG00000059883
AA Change: D86E

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
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,703,423 probably benign Het
Asb18 A G 1: 90,014,574 S2P probably damaging Het
Atp2b2 A G 6: 113,793,754 F398S probably damaging Het
BC034090 T G 1: 155,226,110 D136A probably damaging Het
Ces5a A C 8: 93,519,632 F310V probably damaging Het
Chsy1 T C 7: 66,171,031 V338A probably benign Het
Dbh A G 2: 27,174,932 E385G probably damaging Het
Dnah14 T A 1: 181,763,978 probably benign Het
F2rl1 A G 13: 95,513,589 S262P possibly damaging Het
Fat2 T C 11: 55,256,219 N3984D probably benign Het
Fbxo38 A T 18: 62,526,163 H354Q probably benign Het
Fgf6 T A 6: 127,024,132 V201D probably damaging Het
Gm16181 A T 17: 35,223,957 probably benign Het
Gm6811 T C 17: 21,094,049 noncoding transcript Het
Gna11 A G 10: 81,530,937 F313S probably damaging Het
Gprc6a C T 10: 51,615,872 A523T probably damaging Het
Il22 T C 10: 118,205,880 probably null Het
Insr T C 8: 3,258,574 Y154C probably damaging Het
Itk C A 11: 46,334,937 W529L probably damaging Het
Klhl6 C A 16: 19,947,137 A572S probably benign Het
Ldhc C T 7: 46,869,688 R112C probably damaging Het
Lrrc56 T C 7: 141,199,772 probably benign Het
Mdh2 A G 5: 135,789,713 E274G probably damaging Het
N4bp1 G T 8: 86,848,533 D711E probably benign Het
Ngly1 T A 14: 16,281,866 I248K probably damaging Het
Olfr324 A G 11: 58,598,323 N309S probably damaging Het
Olfr872 T C 9: 20,260,260 I140T probably damaging Het
Pbrm1 A G 14: 31,107,284 E1421G probably damaging Het
Pcca G A 14: 122,585,106 R112H possibly damaging Het
Pgrmc2 T C 3: 41,068,626 probably benign Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Pogz A T 3: 94,875,091 probably benign Het
Ppp1r3a A G 6: 14,754,772 Y159H probably damaging Het
Rax T C 18: 65,938,160 K135E probably damaging Het
Rbm7 T A 9: 48,489,967 M154L probably benign Het
Rp1 A G 1: 4,350,041 S283P probably damaging Het
Rpusd4 T C 9: 35,267,977 S30P probably benign Het
Samd13 T C 3: 146,646,315 T75A probably benign Het
Sfxn4 A G 19: 60,860,070 W22R probably damaging Het
Sh3pxd2a T A 19: 47,424,516 R43W probably damaging Het
Smc5 A G 19: 23,273,658 V54A probably benign Het
Snap47 A G 11: 59,428,598 I238T probably damaging Het
Tecpr2 T G 12: 110,967,833 I1309S possibly damaging Het
Trappc8 A G 18: 20,820,935 L1310P probably damaging Het
Vmn2r61 T A 7: 42,265,984 H118Q probably benign Het
Zbtb17 C T 4: 141,466,933 T731I probably damaging Het
Zfp287 A G 11: 62,715,236 F282L probably damaging Het
Other mutations in Irak4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00679:Irak4 APN 15 94556628 missense probably benign 0.09
IGL00688:Irak4 APN 15 94566863 missense possibly damaging 0.68
IGL01870:Irak4 APN 15 94547870 missense probably benign 0.28
IGL02740:Irak4 APN 15 94567044 makesense probably null
IGL02897:Irak4 APN 15 94553991 missense probably benign 0.00
otiose UTSW 15 94561484 missense probably damaging 1.00
R0057:Irak4 UTSW 15 94553872 missense probably benign 0.00
R2010:Irak4 UTSW 15 94551806 missense probably damaging 1.00
R3751:Irak4 UTSW 15 94561595 missense probably damaging 1.00
R3752:Irak4 UTSW 15 94561595 missense probably damaging 1.00
R3753:Irak4 UTSW 15 94561595 missense probably damaging 1.00
R3973:Irak4 UTSW 15 94554740 missense possibly damaging 0.73
R4687:Irak4 UTSW 15 94566823 missense probably damaging 1.00
R4704:Irak4 UTSW 15 94566900 splice site probably null
R5001:Irak4 UTSW 15 94558273 missense possibly damaging 0.91
R5392:Irak4 UTSW 15 94556684 missense probably benign
R5392:Irak4 UTSW 15 94556685 missense probably benign 0.39
R6280:Irak4 UTSW 15 94551810 nonsense probably null
R6390:Irak4 UTSW 15 94561486 missense probably damaging 1.00
R7643:Irak4 UTSW 15 94558828 missense probably benign 0.05
V8831:Irak4 UTSW 15 94561484 missense probably damaging 1.00
X0019:Irak4 UTSW 15 94554000 missense probably benign 0.00
X0027:Irak4 UTSW 15 94551930 missense probably damaging 1.00
Posted On2016-08-02