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 104,142,196     (Assembly: GRCm38)    
Ref Base A
Codon Change aTg/aAg
Var Base T
Zygosity Heterozygous
Read Depth 37
Allele Frequency
A:R0.43
T:V0.57
Amino Acid Position 229
Amino Acid Change M->K (Methionine -> Lysine)
Sample ID IGL01451
Median Base Quality 37
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 29 Other Mutations

 Predictions 
Polyphen Score 0.61
Polyphen Prediction Possibly damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved