|Institutional Source||Beutler Lab|
|Gene Name||proteasome (prosome, macropain) 26S subunit, non-ATPase, 12|
|Is this an essential gene?||Probably essential (E-score: 0.962)|
|Stock #||R7276 (G1)|
|Chromosomal Location||107479484-107504362 bp(+) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||A to T at 107503645 bp|
|Amino Acid Change||Arginine to Stop codon at position 397 (R397*)|
|Ref Sequence||ENSEMBL: ENSMUSP00000102363 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000106752]|
|Predicted Effect||probably null
AA Change: R397*
AA Change: R397*
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||100% (74/74)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core 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. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase 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 non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Psmd12||
(F):5'- TTGGTTACTTCCATCTCAAGAGGC -3'
(R):5'- ACTGTTTCCCAGGGGCTATG -3'
(F):5'- GGGTGTATAAAGACCTGGGCCTC -3'
(R):5'- GTGGTTACAGAGTCCCAT -3'