|Institutional Source||Beutler Lab|
|Gene Name||proteasome (prosome, macropain) subunit, beta type 5|
|Is this an essential gene?||Probably essential (E-score: 0.958)|
|Stock #||R6657 (G1)|
|Chromosomal Location||54614119-54618022 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 54614383 bp (GRCm38)|
|Amino Acid Change||Tyrosine to Histidine at position 115 (Y115H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000154672 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022803] [ENSMUST00000227257]|
AA Change: Y202H
PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: Y202H
AA Change: Y115H
PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|Meta Mutation Damage Score||0.4507|
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit in the proteasome. This catalytic subunit is not present in the immunoproteasome and is replaced by catalytic subunit 3i (proteasome beta 8 subunit). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Psmb5||
(F):5'- ACTGTACTTGTCATGTAAGTCAGC -3'
(R):5'- GTGCTCTGGAATCTGGAAATCTCA -3'
(F):5'- AGTCAGCTACATTGTCACTGGAC -3'
(R):5'- TGGACCTCACTTTGTAGACCAGG -3'