Il18rap - SNV Details



 Gene Information 
Gene Name Il18rap
Gene Description interleukin 18 receptor accessory protein [Source:MGI Symbol;Acc:MGI:1338888]
MGI phenotype Homozygous null mice exhibit defective IL-18-mediated immune responses such as the inability of splenocytes, T helper 1 cells and neutrophils to produce cytokines in response to IL-18.
Uniprot Name
CCDS Name
Gene GO
integral to membrane; signal transduction; intracellular; interleukin-1 receptor activity; protein binding; innate immune response
Homolog in other species IL18RAP
Omim http://omim.org/entry/604509
Immgen Expression
LOW(HIGH IN NK GROUP, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026068
Chromosome 1
Coordinate 40,548,639     (Assembly: GRCm38)    
Ref Base A
Codon Change Att/Ttt
Var Base T
Zygosity Heterozygous
Read Depth 21
Allele Frequency
A:R0.52
T:V0.48
Amino Acid Position 466
Amino Acid Change I->F (Isoleucine -> Phenylalanine)
Sample ID IGL01467
Median Base Quality 38
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000027237:
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 ENSMUSP00000027237 Pfam 409
557 Description available Search pathways
Toll/interleukin-1 receptor homology (TIR) domain TIR_dom IPR000157 ENSMUSP00000027237 Smart 406
561 Description available Search pathways
Toll/interleukin-1 receptor homology (TIR) domain TIR_dom IPR000157 ENSMUSP00000027237 Prosite_profiles 405
561 Description available Search pathways
Toll/interleukin-1 receptor homology (TIR) domain TIR_dom IPR000157 ENSMUSP00000027237 Superfamily 395
563 Description available Search pathways

 Availability Details 
Availability Cryopreserved