Tnfrsf11b - SNV Details



 Human Rare Diseases 
Juvenile Paget's disease

 Gene Information 
Gene Name Tnfrsf11b
Old Gene Names for Tnfrsf11b Opg
Gene Description tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) [Source:MGI Symbol;Acc:MGI:109587]
MGI phenotype Homozygote null mice have abnormal bone remodeling that results in severe osteoperosis with increased risk of fractures and growth retardation. Progressive hearing loss also results due to abnormal remodeling of the otic capsule.
Uniprot Name
CCDS Name
Gene GO
binding
extracellular matrix organization
negative regulation of bone resorption
negative regulation of odontogenesis of dentine-containing tooth
protein binding
proteinaceous extracellular matrix
receptor activity
response to arsenic-containing substance
response to drug
response to estrogen stimulus
response to inorganic substance
Homolog in other species TNFRSF11B
Omim http://omim.org/entry/602543
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EPITH GROUP, IMM.G2, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000063727
Chromosome 15
Coordinate 54,254,072     (Assembly: GRCm38)    
Ref Base T
Codon Change agA/agC
Var Base G
Zygosity Heterozygous
Read Depth 21
Allele Frequency
T:0.57
G:0.43
Amino Acid Position 262
Amino Acid Change R->S (Arginine -> Serine)
Sample ID IGL00770
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 27 Other Mutations

 Predictions 
Polyphen Score 0.55
Polyphen Prediction Possibly damaging
Sift Score 0.02
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000078705:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Tumour necrosis factor receptor 11B TNFR_11B IPR017371 ENSMUSP00000078705 PIRSF 1
401 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved