Incidental Mutation 'IGL03057:Psmb11'
ID 409270
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmb11
Ensembl Gene ENSMUSG00000072423
Gene Name proteasome (prosome, macropain) subunit, beta type, 11
Synonyms 5830406J20Rik, beta5t
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL03057
Quality Score
Status
Chromosome 14
Chromosomal Location 54862767-54867013 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 54863236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 151 (C151*)
Ref Sequence ENSEMBL: ENSMUSP00000132140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097177] [ENSMUST00000228446]
AlphaFold Q8BG41
Predicted Effect probably null
Transcript: ENSMUST00000097177
AA Change: C151*
SMART Domains Protein: ENSMUSP00000132140
Gene: ENSMUSG00000072423
AA Change: C151*

DomainStartEndE-ValueType
Pfam:Proteasome 46 228 3.9e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000228446
Coding Region Coverage
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,488,754 (GRCm39) A1295V possibly damaging Het
Adgre4 T C 17: 56,106,602 (GRCm39) probably benign Het
Atp8b2 A T 3: 89,851,493 (GRCm39) Y901N probably damaging Het
Bud31 A G 5: 145,083,378 (GRCm39) T74A probably benign Het
C4b C A 17: 34,956,738 (GRCm39) probably benign Het
Ccdc92 G A 5: 124,912,753 (GRCm39) Q259* probably null Het
Ccn4 T C 15: 66,763,489 (GRCm39) probably benign Het
Chfr C A 5: 110,291,475 (GRCm39) Q98K probably benign Het
Ciita T A 16: 10,338,823 (GRCm39) probably benign Het
Cnbd2 A T 2: 156,209,592 (GRCm39) I512F possibly damaging Het
Cpa2 A G 6: 30,557,726 (GRCm39) Y346C probably damaging Het
Cpxm1 A G 2: 130,235,109 (GRCm39) L570P probably damaging Het
Cylc1 G A X: 110,166,370 (GRCm39) G217D unknown Het
Dennd2a T C 6: 39,485,182 (GRCm39) I366V probably damaging Het
Dis3 A T 14: 99,327,426 (GRCm39) M359K possibly damaging Het
Dock10 T C 1: 80,545,088 (GRCm39) N848S probably damaging Het
Dyrk3 C T 1: 131,056,815 (GRCm39) V453I probably benign Het
Ercc5 A G 1: 44,206,161 (GRCm39) E358G probably damaging Het
Fam167b C A 4: 129,471,960 (GRCm39) C70F possibly damaging Het
Flt1 G T 5: 147,618,734 (GRCm39) Y200* probably null Het
Garin4 A T 1: 190,895,141 (GRCm39) S501T probably benign Het
Ggh T C 4: 20,065,770 (GRCm39) V288A probably benign Het
Glb1l2 T C 9: 26,717,586 (GRCm39) probably benign Het
Gm28042 A G 2: 119,862,637 (GRCm39) Y302C probably damaging Het
Gsta2 A G 9: 78,241,192 (GRCm39) probably benign Het
Idh3b T A 2: 130,126,321 (GRCm39) N6I probably benign Het
Irs4 A G X: 140,505,524 (GRCm39) S891P unknown Het
Kcmf1 G T 6: 72,820,010 (GRCm39) R330S probably benign Het
Kif26a G T 12: 112,142,208 (GRCm39) E821* probably null Het
L3mbtl1 A G 2: 162,809,303 (GRCm39) E670G probably damaging Het
Met A T 6: 17,558,765 (GRCm39) D1131V probably damaging Het
Neo1 T C 9: 58,785,342 (GRCm39) E1428G probably damaging Het
Odf2 A G 2: 29,813,657 (GRCm39) probably benign Het
Ogfod1 T A 8: 94,782,766 (GRCm39) L294H possibly damaging Het
Or8d1b G T 9: 38,887,514 (GRCm39) V181F probably benign Het
Pcdhb20 A T 18: 37,637,851 (GRCm39) I126L possibly damaging Het
Pcdhb9 A T 18: 37,534,330 (GRCm39) Q108L probably benign Het
Prdm10 G T 9: 31,260,481 (GRCm39) R645L probably damaging Het
Reep1 T A 6: 71,784,765 (GRCm39) probably benign Het
Reg3a G A 6: 78,358,939 (GRCm39) A46T possibly damaging Het
Rnf213 T A 11: 119,331,913 (GRCm39) I2374N probably damaging Het
Slc17a7 T C 7: 44,820,363 (GRCm39) Y273H probably damaging Het
Smg6 T A 11: 74,826,260 (GRCm39) Y238* probably null Het
Sorcs1 T A 19: 50,248,194 (GRCm39) K411* probably null Het
Spta1 G T 1: 174,008,624 (GRCm39) A243S probably benign Het
Tas2r135 A T 6: 42,378,061 (GRCm39) probably benign Het
Tbx18 T C 9: 87,612,882 (GRCm39) R6G probably damaging Het
Timp3 A G 10: 86,136,815 (GRCm39) D33G possibly damaging Het
Ttf1 A G 2: 28,961,357 (GRCm39) K582E probably damaging Het
Ubr5 C A 15: 38,041,150 (GRCm39) probably benign Het
Ugt2b1 A G 5: 87,074,200 (GRCm39) V53A possibly damaging Het
Ush2a G T 1: 188,530,035 (GRCm39) G3275W probably damaging Het
Usp19 G A 9: 108,376,329 (GRCm39) V1023M probably benign Het
Usp26 T C X: 50,846,135 (GRCm39) I47V possibly damaging Het
Vapa A G 17: 65,901,902 (GRCm39) V76A probably damaging Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Vps13a T C 19: 16,646,058 (GRCm39) N1993S probably damaging Het
Wdr59 G A 8: 112,202,750 (GRCm39) R598C probably damaging Het
Other mutations in Psmb11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02927:Psmb11 APN 14 54,863,108 (GRCm39) missense probably damaging 0.98
R2971:Psmb11 UTSW 14 54,862,800 (GRCm39) missense possibly damaging 0.90
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
Posted On 2016-08-02