Il18r1 - SNV Details



 Gene Information 
Gene Name Il18r1
Old Gene Names for Il18r1 Il1rrp
Gene Description interleukin 18 receptor 1 [Source:MGI Symbol;Acc:MGI:105383]
MGI phenotype Mice homozygous for disruptions in this gene exhibit impaire Th1 cell development and defective NK cell physiology.
Uniprot Name
CCDS Name
Gene GO
integral to membrane; signal transduction; transmembrane signaling receptor activity; intracellular; protein binding; innate immune response
Homolog in other species IL18R1
Omim http://omim.org/entry/604494
Immgen Expression
LOW(HIGH IN NK GROUP, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN
LOW/MEDIAN(HIGH IN IMM.G1, IMM.G2, TRACHEA, ADIPOSETISSUE)
MEDIAN(HIGH IN M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026070
Chromosome 1
Coordinate 40,498,403     (Assembly: GRCm38)    
Ref Base A
Codon Change Agt/Ggt
Var Base G
Zygosity Heterozygous
Read Depth 22
Allele Frequency
A:R0.45
G:V0.55
Amino Acid Position 443
Amino Acid Change S->G (Serine -> Glycine)
Sample ID IGL01726
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

 Predictions 
Polyphen Score 0.96
Polyphen Prediction Probably damaging
Sift Score 0.06
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000103679:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Toll/interleukin-1 receptor homology (TIR) domain TIR_dom IPR000157 ENSMUSP00000103679 Prosite_profiles 370
519 Description available Search pathways
Toll/interleukin-1 receptor homology (TIR) domain TIR_dom IPR000157 ENSMUSP00000103679 Pfam 374
514 Description available Search pathways
Toll/interleukin-1 receptor homology (TIR) domain TIR_dom IPR000157 ENSMUSP00000103679 Superfamily 360
520 Description available Search pathways
Toll/interleukin-1 receptor homology (TIR) domain TIR_dom IPR000157 ENSMUSP00000103679 Smart 371
519 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved