Urb1 - SNV Details



 Gene Information 
Gene Name Urb1
Old Gene Names for Urb1 Ai645590 , 4921511h13rik , 5730405k23rik , Aa670781
Gene Description URB1 ribosome biogenesis 1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2146468]
Uniprot Name
CCDS Name
Gene GO
poly(A) RNA binding; binding; nucleolus
Homolog in other species URB1
Omim http://omim.org/entry/608865
Immgen Expression
MEDIAN(LOW IN GN.BM, HIGH IN B.GC.SP, PROB.FRBC.FL)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000039929
Chromosome 16
Coordinate 90,780,304     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 28
Allele Frequency
A:R0.57
G:V0.43
Amino Acid Change L->S (Leucine -> Serine)
Sample ID IGL03165
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved