|Institutional Source||Beutler Lab|
|Gene Name||proteasome (prosome, macropain) 26S subunit, ATPase, 6|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8059 (G1)|
|Chromosomal Location||45329788-45349705 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 45340803 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 208 (I208F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022380 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022380]|
|Predicted Effect||probably damaging
AA Change: I208F
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: I208F
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (58/58)|
|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 one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. Pseudogenes have been identified on chromosomes 8 and 12. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Psmc6||
(F):5'- TCATTTGATATTTCTAGGCACTGGG -3'
(R):5'- TACCTACTGCAGACAAGTCAGAG -3'
(F):5'- TCTAGGCACTGGGAAAACACTCTTG -3'
(R):5'- AAGTCAGAGCTGCTTACTGC -3'