Tlr7 - SNV Details



 Gene Information 
Gene Name Tlr7
Gene Description toll-like receptor 7 [Source:MGI Symbol;Acc:MGI:2176882]
MGI phenotype The innate immune response to viral infection is affected in homozygous null mice. Mice homozygous or hemizygous for a point mutation produce little or no tumor necrosis factor (TNF) alpha in response to stimulation by a single stranded RNA analog.
Uniprot Name
CCDS Name
Gene GO
drug binding; cytoplasm; signal transduction; transmembrane signaling receptor activity; endoplasmic reticulum membrane; MyD88-dependent toll-like receptor signaling pathway; endoplasmic reticulum; toll-like receptor signaling pathway; lysosome; positive regulation of interleukin-6 production; microglial cell activation involved in immune response; protein binding; integral component of membrane; positive regulation of interleukin-8 biosynthetic process; inflammatory response; pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response; single-stranded RNA binding; positive regulation of chemokine production; positive regulation of interferon-alpha biosynthetic process; endosome; positive regulation of NF-kappaB import into nucleus; positive regulation of interferon-gamma biosynthetic process; siRNA binding; microglial cell activation; toll-like receptor 7 signaling pathway; positive regulation of interferon-beta biosynthetic process; innate immune response; defense response to virus; double-stranded RNA binding; cellular response to mechanical stimulus; plasma membrane; receptor complex; positive regulation of interleukin-8 production; I-kappaB phosphorylation; early phagosome
Homolog in other species TLR7
Omim http://omim.org/entry/300365
Immgen Expression
LOW(HIGH IN BCELL GROUP, MYELOID GROUP, DC GROUP)
Gnf Expression
LOW/MEDIAN(HIGH IN IMM GROUP, OSTEO GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000044583
Chromosome X
Coordinate 167,308,475     (Assembly: GRCm38)    
Ref Base A
Var Base C
Zygosity Heterozygous
Read Depth 25
Allele Frequency
A:R0.44
C:V0.56
Amino Acid Change M->R (Methionine -> Arginine)
Sample ID IGL00556
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 23 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved