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
binding
biological_process
cellular_component
molecular_function
protein binding
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 104,141,777     (Assembly: GRCm38)    
Ref Base T
Codon Change Act/Gct
Var Base C
Zygosity Heterozygous
Read Depth 25
Allele Frequency
T:0.68
C:0.32
Amino Acid Position 369
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL00656
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 17 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.73
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved