Ubr1 - SNV Details



 Human Rare Diseases 
Johanson-Blizzard syndrome

 Gene Information 
Gene Name Ubr1
Old Gene Names for Ubr1 Ai504731
Gene Description ubiquitin protein ligase E3 component n-recognin 1 [Source:MGI Symbol;Acc:MGI:1277977]
MGI phenotype Homozygous null mutants have 20% lower body weight and reduced muscle and adipose tissue. Skeletal muscle lacks a mechanism for targeting proteins for rapid catabolism. Aberrant regulation of fatty acid synthase upon starvation is also observed.
Uniprot Name
CCDS Name
Gene GO
negative regulation of TOR signaling cascade; cellular response to leucine; leucine binding; ubiquitin ligase complex; zinc ion binding; ubiquitin-protein ligase activity; ubiquitin-dependent protein catabolic process; protein binding; proteasome complex; protein catabolic process; cytosol
Homolog in other species UBR1
Omim http://omim.org/entry/605981
Immgen Expression
HIGH(LOWER IN DC.LC.SK)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
Gnf Expression
HIGH(LOWER IN FERTILIZEDEGG, PANCREAS, BROWNFAT, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027272
Chromosome 2
Coordinate 120,930,872     (Assembly: GRCm38)    
Ref Base T
Var Base G
Zygosity Heterozygous
Read Depth 22
Allele Frequency
T:R0.41
G:V0.59
Amino Acid Change H->P (Histidine -> Proline)
Sample ID IGL00990
Median Base Quality 32
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 151 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved