Incidental Mutation 'IGL00332:Irak3'
ID11490
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 non essential (E-score: 0.444) question?
Stock #IGL00332
Quality Score
Status
Chromosome10
Chromosomal Location120141648-120202130 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 120178067 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020448] [ENSMUST00000135106] [ENSMUST00000145665]
Predicted Effect probably null
Transcript: ENSMUST00000020448
SMART Domains Protein: ENSMUSP00000020448
Gene: ENSMUSG00000020227

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 benign
Transcript: ENSMUST00000135106
SMART Domains Protein: ENSMUSP00000123604
Gene: ENSMUSG00000020227

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 null
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,176,421 Y404H possibly damaging Het
Adgrv1 T A 13: 81,472,877 probably benign Het
Akap13 A G 7: 75,728,919 K2107E probably damaging Het
Ankrd42 A G 7: 92,584,454 probably benign Het
Apba3 C T 10: 81,273,067 P555S probably damaging Het
Aplnr A G 2: 85,137,641 S337G probably benign Het
Arhgef40 A G 14: 51,988,960 N154D probably damaging Het
Asb14 A G 14: 26,912,041 K401R probably benign Het
Aspn C A 13: 49,566,492 T328K probably benign Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Brca2 T A 5: 150,539,898 H1042Q probably benign Het
C3 A G 17: 57,226,004 L167P probably benign Het
Ccdc33 A G 9: 58,069,974 probably benign Het
Cdk10 T A 8: 123,230,324 M222K possibly damaging Het
Cfap45 C T 1: 172,535,345 probably benign Het
Chil3 T A 3: 106,148,701 N352I probably damaging Het
Chn2 G T 6: 54,295,922 probably null Het
Cpt1b T C 15: 89,420,863 E394G probably benign Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fcgr2b T A 1: 170,961,230 N273I possibly damaging Het
Fpr-rs7 G A 17: 20,113,218 Q337* probably null Het
Fras1 T A 5: 96,739,358 N2666K possibly damaging Het
Gfra3 C T 18: 34,691,548 probably null Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gpr75 C T 11: 30,891,590 T165I probably damaging Het
Gzmd A T 14: 56,130,280 C179S probably damaging Het
Hand1 T G 11: 57,831,749 H13P probably damaging Het
Isl2 T A 9: 55,544,969 L275Q possibly damaging Het
Itgb2 T C 10: 77,557,406 V367A probably damaging Het
Katna1 T C 10: 7,762,994 probably benign Het
Myh6 A G 14: 54,946,993 M1627T probably benign Het
Naprt A G 15: 75,893,315 Y187H probably damaging Het
Nedd4 T A 9: 72,735,089 V550E probably damaging Het
Nt5c2 A G 19: 46,896,515 V252A possibly damaging Het
Olfr1089 T C 2: 86,733,235 I126V possibly damaging Het
Olfr1504 C T 19: 13,887,581 V210I probably benign Het
P2ry2 A G 7: 100,998,186 V304A probably damaging Het
Pde4dip T C 3: 97,767,277 N108D probably benign Het
Pdgfrl A G 8: 40,985,623 T199A probably damaging Het
Plaa A G 4: 94,582,607 Y431H probably benign Het
Pls1 A T 9: 95,782,419 I177N possibly damaging Het
Plxna2 T C 1: 194,789,830 F1035L probably damaging Het
Ppp6r3 A T 19: 3,514,729 probably null Het
Prpf4b T C 13: 34,883,907 S240P probably benign Het
Reg2 T A 6: 78,406,221 Y50* probably null Het
Rev3l C T 10: 39,806,969 T361I probably benign Het
Rps4l A G 6: 148,354,885 probably benign Het
Scn11a A T 9: 119,769,916 F1183I probably damaging Het
Sh2b2 T C 5: 136,224,419 E327G probably damaging Het
Shank2 A G 7: 144,411,847 K1057R probably damaging Het
Sim2 T A 16: 94,114,944 Y255* probably null Het
Snx9 A G 17: 5,899,361 N112S probably benign Het
Sphkap T A 1: 83,280,516 I169F probably damaging Het
Spink5 A G 18: 43,967,044 T43A probably benign Het
Stac2 C T 11: 98,041,179 S265N probably benign Het
Tbx20 A G 9: 24,758,748 V91A probably damaging Het
Tgfbr2 C T 9: 116,110,189 R190H probably damaging Het
Ubr2 A G 17: 46,990,990 probably null Het
Wdfy3 C T 5: 101,915,338 probably null Het
Wdr82 T C 9: 106,184,250 V166A probably benign Het
Zfhx4 C T 3: 5,242,341 A209V probably damaging Het
Zfp518b T A 5: 38,673,766 T299S possibly damaging Het
Other mutations in Irak3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02992:Irak3 APN 10 120182661 missense probably damaging 1.00
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
R8087:Irak3 UTSW 10 120182535 missense probably benign 0.02
X0023:Irak3 UTSW 10 120143187 missense probably damaging 1.00
Posted On2012-12-06