Ubqln3 - SNV Details



 Gene Information 
Gene Name Ubqln3
Old Gene Names for Ubqln3 4933400k24rik
Gene Description ubiquilin 3 [Source:MGI Symbol;Acc:MGI:3045291]
Uniprot Name
CCDS Name
Gene GO
protein binding; binding; cellular_component; biological_process; molecular_function
Homolog in other species UBQLN3
Omim http://omim.org/entry/605473
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
LOW(HIGH IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000051618
Chromosome 7
Coordinate 104,141,299     (Assembly: GRCm38)    
Ref Base A
Codon Change cTg/cAg
Var Base T
Zygosity Heterozygous
Read Depth 10
Allele Frequency
A:R0.30
T:V0.70
Amino Acid Position 528
Amino Acid Change L->Q (Leucine -> Glutamine)
Sample ID IGL02072
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 
Polyphen Score 0.94
Polyphen Prediction Possibly damaging
Sift Score 0.06
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved