|Institutional Source||Beutler Lab|
|Gene Name||proteasome (prosome, macropain) subunit, beta type, 11|
|Is this an essential gene?||Probably non essential (E-score: 0.122)|
|Stock #||R2971 (G1)|
|Chromosomal Location||54621433-54629556 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 54625343 bp|
|Amino Acid Change||Valine to Alanine at position 6 (V6A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000132140 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000097177] [ENSMUST00000228446]|
|Predicted Effect||possibly damaging
AA Change: V6A
PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: V6A
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.0665|
|Coding Region Coverage||
|Validation Efficiency||100% (35/35)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteasomes generate peptides that are presented by major histocompatibility complex (MHC) I molecules to other cells of the immune system. Proteolysis is conducted by 20S proteasomes, complexes of 28 subunits arranged as a cylinder in 4 heteroheptameric rings: alpha-1 to -7, beta-1 to -7, beta-1 to -7, and alpha-1 to -7. The catalytic subunits are beta-1 (PSMB6; MIM 600307), beta-2 (PSMB7; MIM 604030), and beta-5 (PSMB5; MIM 600306). Three additional subunits, beta-1i (PSMB9; MIM 177045), beta-2i (PSMB10; MIM 176847), and beta-5i (PSMB8; MIM 177046), are induced by gamma-interferon (IFNG; MIM 147570) and are preferentially incorporated into proteasomes to make immunoproteasomes. PSMB11, or beta-5t, is a catalytic subunit expressed exclusively in cortical thymic epithelial cells (Murata et al., 2007 [PubMed 17540904]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele have fewer CD8+ single positive cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Psmb11||
(F):5'- CCAAAGCCTGATCTGAGACC -3'
(R):5'- TGGACATGCCACATAGCTGC -3'
(F):5'- CCAAGGAGAAATGAAGCTTAGCTCAC -3'
(R):5'- AGTATCAGCCGCAGCGATGAC -3'