Incidental Mutation 'IGL02967:Psmb5'
ID 365645
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmb5
Ensembl Gene ENSMUSG00000022193
Gene Name proteasome (prosome, macropain) subunit, beta type 5
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # IGL02967
Quality Score
Status
Chromosome 14
Chromosomal Location 54851577-54855452 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 54854083 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 132 (R132C)
Ref Sequence ENSEMBL: ENSMUSP00000022803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022803] [ENSMUST00000227257] [ENSMUST00000228446]
AlphaFold O55234
PDB Structure Mouse constitutive 20S proteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse constitutive 20S proteasome [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000022803
AA Change: R132C

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000022803
Gene: ENSMUSG00000022193
AA Change: R132C

DomainStartEndE-ValueType
low complexity region 17 42 N/A INTRINSIC
Pfam:Proteasome 56 238 8.3e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102174
Predicted Effect probably benign
Transcript: ENSMUST00000227257
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.] 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 proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit in the proteasome. This catalytic subunit is not present in the immunoproteasome and is replaced by catalytic subunit 3i (proteasome beta 8 subunit). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,328,291 (GRCm39) T3455A probably damaging Het
Abca8a G A 11: 109,941,762 (GRCm39) P1169L probably damaging Het
Ablim3 T A 18: 61,959,574 (GRCm39) K272* probably null Het
Abtb3 A G 10: 85,469,646 (GRCm39) T856A probably benign Het
Acin1 A G 14: 54,880,210 (GRCm39) V574A possibly damaging Het
Acot4 A T 12: 84,090,235 (GRCm39) I311L probably benign Het
Akap9 C T 5: 4,026,164 (GRCm39) A1273V probably benign Het
Ap1g2 T A 14: 55,342,479 (GRCm39) probably benign Het
Apob A T 12: 8,065,366 (GRCm39) K4112* probably null Het
Aspdh A G 7: 44,114,963 (GRCm39) probably null Het
Atf7ip T C 6: 136,583,725 (GRCm39) I1252T probably damaging Het
Avpr1a A G 10: 122,285,367 (GRCm39) T220A possibly damaging Het
Bdp1 A G 13: 100,178,778 (GRCm39) F1856S possibly damaging Het
Cit A T 5: 116,083,896 (GRCm39) N743I probably benign Het
Clvs2 T C 10: 33,471,784 (GRCm39) K174E probably damaging Het
Cyp4f40 A T 17: 32,893,222 (GRCm39) Q351L probably damaging Het
Dmbt1 G T 7: 130,672,919 (GRCm39) V550L possibly damaging Het
Edem1 T G 6: 108,813,738 (GRCm39) S178A probably damaging Het
Fam222b C T 11: 78,044,934 (GRCm39) A165V probably benign Het
Fer T C 17: 64,203,262 (GRCm39) V64A possibly damaging Het
Fggy T G 4: 95,814,986 (GRCm39) F535C possibly damaging Het
Fkbp15 A T 4: 62,222,627 (GRCm39) S1091T probably damaging Het
Fstl5 G A 3: 76,229,498 (GRCm39) V100M probably damaging Het
Fut7 G T 2: 25,315,155 (GRCm39) V91L probably damaging Het
Gemin4 A T 11: 76,103,067 (GRCm39) C565S probably damaging Het
Gzmm C T 10: 79,530,897 (GRCm39) T233I possibly damaging Het
Hps5 A T 7: 46,418,804 (GRCm39) L789Q possibly damaging Het
Krt32 G A 11: 99,974,876 (GRCm39) S357F possibly damaging Het
Lrig2 C T 3: 104,401,512 (GRCm39) probably benign Het
Lrp8 C A 4: 107,718,431 (GRCm39) Q678K probably benign Het
Mmp27 C A 9: 7,571,591 (GRCm39) Q45K probably benign Het
Myh1 A G 11: 67,099,896 (GRCm39) D602G possibly damaging Het
Ncoa1 G T 12: 4,345,294 (GRCm39) H684Q probably damaging Het
Nol9 T C 4: 152,125,559 (GRCm39) V170A possibly damaging Het
Notch2 A G 3: 98,053,460 (GRCm39) D2041G probably damaging Het
Nrg3 G T 14: 38,390,256 (GRCm39) probably benign Het
Nuak1 T A 10: 84,276,085 (GRCm39) H46L probably damaging Het
Pdzd2 G T 15: 12,374,427 (GRCm39) Q1903K probably benign Het
Pik3c2g T C 6: 139,913,554 (GRCm39) V616A probably damaging Het
Ppp6c A G 2: 39,116,229 (GRCm39) Y9H probably damaging Het
Prdm11 A T 2: 92,843,234 (GRCm39) F75Y probably damaging Het
Prelid1 G A 13: 55,472,219 (GRCm39) V132I probably benign Het
Prom1 A G 5: 44,201,740 (GRCm39) S227P probably damaging Het
Pus10 A G 11: 23,668,602 (GRCm39) N360D probably damaging Het
Pygm G A 19: 6,443,868 (GRCm39) V610M probably damaging Het
Setd1a A G 7: 127,384,349 (GRCm39) probably benign Het
Sfmbt1 T A 14: 30,538,759 (GRCm39) W793R probably damaging Het
Slc25a4 A G 8: 46,662,187 (GRCm39) L157P probably damaging Het
Sost T G 11: 101,855,084 (GRCm39) E75A possibly damaging Het
Tdrd9 A G 12: 111,958,922 (GRCm39) S119G possibly damaging Het
Tepsin A G 11: 119,984,954 (GRCm39) I238T probably benign Het
Tfr2 T A 5: 137,581,081 (GRCm39) L507* probably null Het
Tmem106a T C 11: 101,477,121 (GRCm39) I110T possibly damaging Het
Tmem38a A T 8: 73,339,926 (GRCm39) D298V possibly damaging Het
Tmprss12 A T 15: 100,183,262 (GRCm39) R201S probably benign Het
Ugt2b36 T C 5: 87,238,759 (GRCm39) T271A possibly damaging Het
Virma T G 4: 11,514,096 (GRCm39) V650G probably benign Het
Vmn1r220 A T 13: 23,368,162 (GRCm39) I178N probably damaging Het
Zfp609 A G 9: 65,604,901 (GRCm39) S1276P possibly damaging Het
Zfp809 A G 9: 22,146,398 (GRCm39) Y29C probably damaging Het
Other mutations in Psmb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01140:Psmb5 APN 14 54,855,264 (GRCm39) missense possibly damaging 0.85
IGL03095:Psmb5 APN 14 54,854,014 (GRCm39) missense probably damaging 1.00
R2447:Psmb5 UTSW 14 54,851,927 (GRCm39) missense probably damaging 0.97
R5651:Psmb5 UTSW 14 54,854,221 (GRCm39) missense possibly damaging 0.64
R6346:Psmb5 UTSW 14 54,854,130 (GRCm39) missense probably damaging 0.98
R6372:Psmb5 UTSW 14 54,854,130 (GRCm39) missense probably damaging 0.98
R6657:Psmb5 UTSW 14 54,851,840 (GRCm39) missense possibly damaging 0.61
R6687:Psmb5 UTSW 14 54,854,130 (GRCm39) missense probably damaging 0.98
R6688:Psmb5 UTSW 14 54,854,130 (GRCm39) missense probably damaging 0.98
R6752:Psmb5 UTSW 14 54,854,212 (GRCm39) missense probably benign 0.00
R7007:Psmb5 UTSW 14 54,854,166 (GRCm39) missense probably damaging 0.99
R7801:Psmb5 UTSW 14 54,854,212 (GRCm39) missense probably benign 0.00
R8066:Psmb5 UTSW 14 54,851,698 (GRCm39) missense probably benign 0.00
R8278:Psmb5 UTSW 14 54,855,342 (GRCm39) missense probably benign 0.13
R8497:Psmb5 UTSW 14 54,851,837 (GRCm39) missense possibly damaging 0.95
R8728:Psmb5 UTSW 14 54,855,261 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18