|Institutional Source||Beutler Lab|
|Gene Name||proteasome (prosome, macropain) subunit, alpha type 1|
|Synonyms||C2, HC2, Pros-30|
|Is this an essential gene?||Possibly non essential (E-score: 0.445)|
|Stock #||R7137 (G1)|
|Chromosomal Location||114264606-114276118 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 114274448 bp|
|Amino Acid Change||Tyrosine to Histidine at position 6 (Y6H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033008 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033008] [ENSMUST00000135570]|
|Predicted Effect||probably damaging
AA Change: Y6H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y6H
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.8729|
|Coding Region Coverage||
|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 peptidase T1A family, that is a 20S core alpha subunit. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Psma1||
(F):5'- AGTTCTACTAAGCTGCTCAAATTGC -3'
(R):5'- ACAGCTCCAGCATGGTTAAGG -3'
(F):5'- TAAGCTGCTCAAATTGCCCACTG -3'
(R):5'- CCAGCATGGTTAAGGGACCTTG -3'