Incidental Mutation 'R2971:Psmb11'
ID 265692
Institutional Source Beutler Lab
Gene Symbol Psmb11
Ensembl Gene ENSMUSG00000072423
Gene Name proteasome (prosome, macropain) subunit, beta type, 11
Synonyms 5830406J20Rik, beta5t
MMRRC Submission 040525-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R2971 (G1)
Quality Score 208
Status Validated
Chromosome 14
Chromosomal Location 54862767-54867013 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54862800 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BG41
Predicted Effect possibly damaging
Transcript: ENSMUST00000097177
AA Change: V6A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132140
Gene: ENSMUSG00000072423
AA Change: V6A

DomainStartEndE-ValueType
Pfam:Proteasome 46 228 3.9e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000228446
Meta Mutation Damage Score 0.0665 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 100% (35/35)
MGI Phenotype 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
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,749,447 (GRCm39) D1406G possibly damaging Het
Aebp2 T C 6: 140,579,624 (GRCm39) probably null Het
Ap5m1 T A 14: 49,321,339 (GRCm39) Y49* probably null Het
Atp8b5 T C 4: 43,361,953 (GRCm39) probably benign Het
Baz1a A G 12: 54,970,224 (GRCm39) S518P probably damaging Het
Ces1c T A 8: 93,830,821 (GRCm39) D445V probably benign Het
Ctnnbl1 C T 2: 157,713,106 (GRCm39) H464Y probably benign Het
Cyp2j6 T C 4: 96,420,018 (GRCm39) K238E probably benign Het
Gdf10 G A 14: 33,646,148 (GRCm39) R99H probably damaging Het
Gm4779 G A X: 100,836,568 (GRCm39) P116L possibly damaging Het
Gucy2g A G 19: 55,198,708 (GRCm39) S812P probably damaging Het
Ifit3b C T 19: 34,589,417 (GRCm39) Q198* probably null Het
Irgm1 A T 11: 48,757,417 (GRCm39) Y131* probably null Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Myh7b A G 2: 155,474,175 (GRCm39) N1630S probably benign Het
Myo5a T C 9: 75,023,484 (GRCm39) I15T probably damaging Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nme6 A G 9: 109,671,159 (GRCm39) probably benign Het
Or11g25 T A 14: 50,723,065 (GRCm39) I50N probably damaging Het
Or5al6 T C 2: 85,976,908 (GRCm39) T57A probably damaging Het
Plch2 T G 4: 155,075,224 (GRCm39) M797L probably benign Het
Plscr2 G T 9: 92,172,724 (GRCm39) E128* probably null Het
Plxna2 T A 1: 194,480,039 (GRCm39) D1403E probably damaging Het
Pou6f2 T C 13: 18,556,552 (GRCm39) T25A unknown Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptprd T G 4: 76,025,561 (GRCm39) S546R probably benign Het
Rbp3 A G 14: 33,676,411 (GRCm39) N120D probably benign Het
Skint1 C A 4: 111,878,527 (GRCm39) P153H possibly damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Tmem201 A G 4: 149,806,902 (GRCm39) probably benign Het
Ube2v1 T C 2: 167,452,256 (GRCm39) N89D probably damaging Het
Zfp282 A T 6: 47,874,866 (GRCm39) probably null Het
Zfp560 C A 9: 20,260,240 (GRCm39) M207I probably benign Het
Zfp697 T C 3: 98,335,617 (GRCm39) Y461H probably damaging Het
Other mutations in Psmb11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02927:Psmb11 APN 14 54,863,108 (GRCm39) missense probably damaging 0.98
IGL03057:Psmb11 APN 14 54,863,236 (GRCm39) nonsense probably null
R4006:Psmb11 UTSW 14 54,863,103 (GRCm39) missense probably damaging 0.99
R6228:Psmb11 UTSW 14 54,863,646 (GRCm39) missense probably benign
R7229:Psmb11 UTSW 14 54,863,408 (GRCm39) missense probably damaging 1.00
R8439:Psmb11 UTSW 14 54,863,013 (GRCm39) missense probably damaging 1.00
R9260:Psmb11 UTSW 14 54,863,033 (GRCm39) missense probably damaging 0.99
R9642:Psmb11 UTSW 14 54,863,295 (GRCm39) missense probably benign 0.32
R9655:Psmb11 UTSW 14 54,862,965 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAAAGCCTGATCTGAGACC -3'
(R):5'- TGGACATGCCACATAGCTGC -3'

Sequencing Primer
(F):5'- CCAAGGAGAAATGAAGCTTAGCTCAC -3'
(R):5'- AGTATCAGCCGCAGCGATGAC -3'
Posted On 2015-02-05