Incidental Mutation 'IGL02992:Irak3'
ID406970
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Irak3
Ensembl Gene ENSMUSG00000020227
Gene Nameinterleukin-1 receptor-associated kinase 3
Synonyms4833428C18Rik, IRAK-M
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.593) question?
Stock #IGL02992
Quality Score
Status
Chromosome10
Chromosomal Location120141648-120202130 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 120182661 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 61 (Y61N)
Ref Sequence ENSEMBL: ENSMUSP00000123604 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020448] [ENSMUST00000135106] [ENSMUST00000145665]
Predicted Effect probably damaging
Transcript: ENSMUST00000020448
AA Change: Y61N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020448
Gene: ENSMUSG00000020227
AA Change: Y61N

DomainStartEndE-ValueType
Pfam:Death 26 106 1.3e-15 PFAM
Pfam:Pkinase 178 456 8.4e-37 PFAM
Pfam:Pkinase_Tyr 178 456 2e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000135106
AA Change: Y61N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123604
Gene: ENSMUSG00000020227
AA Change: Y61N

DomainStartEndE-ValueType
Pfam:Death 26 106 2.2e-16 PFAM
Pfam:Pkinase_Tyr 178 301 3.1e-15 PFAM
Pfam:Pkinase 178 302 4.9e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143100
Predicted Effect probably benign
Transcript: ENSMUST00000145665
SMART Domains Protein: ENSMUSP00000118038
Gene: ENSMUSG00000020227

DomainStartEndE-ValueType
Pfam:Pkinase 86 364 8.4e-35 PFAM
Pfam:Pkinase_Tyr 86 364 1.7e-34 PFAM
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 member of the interleukin-1 receptor-associated kinase protein family. Members of this family are essential components of the Toll/IL-R immune signal transduction pathways. This protein is primarily expressed in monocytes and macrophages and functions as a negative regulator of Toll-like receptor signaling. Mutations in this gene are associated with a susceptibility to asthma. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormal inflammatory responses to bacterial infections and loose bone mass with age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik T A 1: 105,719,464 L684M possibly damaging Het
Abca4 A G 3: 122,128,286 K1164E probably damaging Het
Arhgap42 G A 9: 8,998,248 probably benign Het
Arhgef12 T C 9: 42,999,077 D612G probably damaging Het
Cpne3 T C 4: 19,532,486 D309G probably benign Het
Daw1 T C 1: 83,197,213 probably benign Het
Daxx T A 17: 33,911,748 C246S probably damaging Het
Dpp7 T C 2: 25,354,577 D264G possibly damaging Het
Dync2h1 T A 9: 7,137,074 H1472L probably benign Het
Fastkd2 T C 1: 63,737,924 probably benign Het
Fcrls T G 3: 87,259,466 R73S probably damaging Het
Gatb A G 3: 85,618,916 D367G probably damaging Het
Gm20547 T A 17: 34,857,119 E654V probably damaging Het
Gm839 T A 6: 89,212,527 noncoding transcript Het
Gtf2ird2 A T 5: 134,217,614 M905L possibly damaging Het
Hoxb2 A T 11: 96,353,084 I174F probably damaging Het
Hrh3 A G 2: 180,100,815 V308A probably benign Het
Ints9 A G 14: 64,980,164 K47E probably benign Het
Itpr1 A G 6: 108,381,315 E614G probably damaging Het
Lgals3 A T 14: 47,385,525 I214L probably benign Het
Msh4 G T 3: 153,872,325 T444K possibly damaging Het
Myh7b C A 2: 155,621,410 Q521K probably damaging Het
Naip5 T A 13: 100,223,028 I567F probably damaging Het
Nf1 A G 11: 79,434,933 probably benign Het
Nlrc3 C T 16: 3,954,023 probably benign Het
Nlrc5 A C 8: 94,506,573 E1353A possibly damaging Het
Nr1h3 T A 2: 91,190,566 I260F probably damaging Het
Pcnx G A 12: 81,964,120 R1211Q probably damaging Het
Pde10a A G 17: 8,949,461 K605E probably damaging Het
Pdzd2 T C 15: 12,382,622 E1215G possibly damaging Het
Pex12 A G 11: 83,297,927 S81P probably damaging Het
Pik3c2b C A 1: 133,066,980 Y227* probably null Het
Ppef2 C T 5: 92,235,900 W450* probably null Het
Prkg2 T G 5: 99,024,506 S117R probably benign Het
Prl3d2 A T 13: 27,127,283 E179D probably benign Het
Rxfp2 T C 5: 150,051,556 V210A probably benign Het
Scn10a T C 9: 119,609,560 T1748A possibly damaging Het
Sept10 T C 10: 59,192,178 N107S possibly damaging Het
Smu1 T A 4: 40,739,550 N420I probably damaging Het
Sos1 A G 17: 80,419,016 F835L probably benign Het
Spg11 T C 2: 122,058,398 D2164G probably damaging Het
Svbp A G 4: 119,195,930 E8G probably damaging Het
Tgm3 T A 2: 130,041,979 M519K probably damaging Het
Tspan12 A G 6: 21,799,877 probably null Het
Vps52 T C 17: 33,958,350 V122A probably damaging Het
Wipf1 T C 2: 73,434,083 Y458C probably damaging Het
Zfp369 T A 13: 65,294,451 D286E possibly damaging Het
Other mutations in Irak3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Irak3 APN 10 120178067 critical splice donor site probably null
IGL01015:Irak3 APN 10 120142790 nonsense probably null
IGL01530:Irak3 APN 10 120142794 missense probably benign 0.10
IGL01641:Irak3 APN 10 120176347 missense probably benign 0.35
IGL01730:Irak3 APN 10 120178100 missense probably benign 0.04
IGL02054:Irak3 APN 10 120176259 missense probably benign 0.01
IGL02938:Irak3 APN 10 120182524 critical splice donor site probably null
IGL02954:Irak3 APN 10 120176242 missense probably damaging 0.98
IGL03376:Irak3 APN 10 120146636 splice site probably benign
iracema UTSW 10 120145782 missense probably damaging 0.99
R0031:Irak3 UTSW 10 120176320 nonsense probably null
R0734:Irak3 UTSW 10 120145637 splice site probably benign
R1017:Irak3 UTSW 10 120142884 missense possibly damaging 0.94
R1025:Irak3 UTSW 10 120176346 missense probably damaging 1.00
R1486:Irak3 UTSW 10 120143061 missense probably damaging 1.00
R1538:Irak3 UTSW 10 120165130 missense probably benign 0.00
R1596:Irak3 UTSW 10 120182546 missense probably damaging 1.00
R1689:Irak3 UTSW 10 120146552 missense probably damaging 0.98
R2133:Irak3 UTSW 10 120165177 missense probably benign 0.10
R3609:Irak3 UTSW 10 120145677 missense possibly damaging 0.95
R3947:Irak3 UTSW 10 120170373 missense probably benign 0.00
R3948:Irak3 UTSW 10 120170373 missense probably benign 0.00
R4510:Irak3 UTSW 10 120145908 missense probably damaging 0.99
R4511:Irak3 UTSW 10 120145908 missense probably damaging 0.99
R4885:Irak3 UTSW 10 120182681 missense probably damaging 1.00
R5007:Irak3 UTSW 10 120146429 critical splice donor site probably null
R5180:Irak3 UTSW 10 120145782 missense probably damaging 0.99
R5704:Irak3 UTSW 10 120145689 missense probably benign 0.04
R5715:Irak3 UTSW 10 120142736 missense possibly damaging 0.66
R6020:Irak3 UTSW 10 120143137 missense probably damaging 1.00
R6916:Irak3 UTSW 10 120201365 missense probably damaging 1.00
R7182:Irak3 UTSW 10 120166511 missense probably damaging 1.00
R7707:Irak3 UTSW 10 120146584 missense probably damaging 0.99
R7787:Irak3 UTSW 10 120176351 missense probably benign 0.06
X0023:Irak3 UTSW 10 120143187 missense probably damaging 1.00
Posted On2016-08-02