Lifr - SNV Details



 Human Rare Diseases 
Stuve-Wiedemann syndrome

 Gene Information 
Gene Name Lifr
Old Gene Names for Lifr A230075m04rik , Aw061234
Gene Description leukemia inhibitory factor receptor [Source:MGI Symbol;Acc:MGI:96788]
MGI phenotype Homozygotes for targeted null mutations die as neonates with reduced numbers of facial and spinal motor neurons, neurons of the nucleus ambiguus, and astrocytes. Mutants also show impaired placentation, severe osteopenia, and low hepatic glycogen stores.
Uniprot Name
CCDS Name
Gene GO
growth factor binding; oncostatin-M receptor activity; integral to membrane; ciliary neurotrophic factor receptor activity; leukemia inhibitory factor signaling pathway; cytokine-mediated signaling pathway; ciliary neurotrophic factor-mediated signaling pathway; protein binding; oncostatin-M-mediated signaling pathway; leukemia inhibitory factor receptor activity; response to cytokine stimulus; ciliary neurotrophic factor receptor binding; extracellular region; neuron projection morphogenesis; cytokine binding; plasma membrane; organ regeneration; positive regulation of cell proliferation
Homolog in other species LIFR
Omim http://omim.org/entry/151443
Immgen Expression
LOW(HIGH IN BCELL GROUP, MYELOID GROUP, DC GROUP)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000054263
Chromosome 15
Coordinate 7,186,923     (Assembly: GRCm38)    
Ref Base T
Var Base G
Zygosity Heterozygous
Read Depth 20
Allele Frequency
T:R0.35
G:V0.65
Amino Acid Change I->S (Isoleucine -> Serine)
Sample ID IGL02477
Median Base Quality 39.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved