|Institutional Source||Beutler Lab|
|Gene Name||proteasome (prosome, macropain) 26S subunit, non-ATPase, 7|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1715 (G1)|
|Chromosomal Location||107580381-107588464 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 107581185 bp|
|Amino Acid Change||Isoleucine to Threonine at position 222 (I222T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041968 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044106]|
|Predicted Effect||probably benign
AA Change: I222T
PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: I222T
|Coding Region Coverage||
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 17. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice carrying a proviral insertion at this locus develop normally to the blastocyst stage but die shortly after implantation before reaching the egg cylinder stage. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Psmd7||
(F):5'- AGGTTATGCAAGGCGACCACAG -3'
(R):5'- TCAACATTGTAGCAAAGCAGGTGGG -3'
(F):5'- CGACCACAGAGCGGATCAG -3'
(R):5'- GACCAGAAAGTTGTTGTAGCTC -3'