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|Institutional Source||Beutler Lab|
|Gene Name||proteasome (prosome, macropain) subunit, beta type 7|
|Is this an essential gene?||Probably essential (E-score: 0.964)|
|Stock #||R6160 (G1)|
|Chromosomal Location||38588036-38644087 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 38643381 bp|
|Amino Acid Change||Threonine to Alanine at position 45 (T45A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028083 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028083]|
|Predicted Effect||probably damaging
AA Change: T45A
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: T45A
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|Validation Efficiency||94% (62/66)|
|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. The encoded protein is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core beta subunit in the proteasome. Expression of this catalytic subunit is downregulated by gamma interferon, and proteolytic processing is required to generate a mature subunit. A pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Jul 2012]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Psmb7||
(F):5'- CTTAGGAAAAGCCAAATTGCCCTC -3'
(R):5'- TGATCACACTGGGGTGGAAG -3'
(F):5'- AGCCAAATTGCCCTCATGTG -3'
(R):5'- GGTGGAAGAAAATTGAGTTCCTTCC -3'