Incidental Mutation 'IGL02556:Psmb6'
ID 298495
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmb6
Ensembl Gene ENSMUSG00000018286
Gene Name proteasome (prosome, macropain) subunit, beta type 6
Synonyms subunit 2, Mpnd, Lmp19
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # IGL02556
Quality Score
Status
Chromosome 11
Chromosomal Location 70416193-70418684 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70417248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 99 (H99L)
Ref Sequence ENSEMBL: ENSMUSP00000018430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018430]
AlphaFold Q60692
PDB Structure Mouse constitutive 20S proteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse constitutive 20S proteasome [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000018430
AA Change: H99L

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000018430
Gene: ENSMUSG00000018286
AA Change: H99L

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:Proteasome 30 212 1.3e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128870
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148535
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. The encoded protein is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core beta subunit in the proteasome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T G 10: 100,446,579 (GRCm39) probably null Het
Ace A G 11: 105,863,353 (GRCm39) D376G probably damaging Het
Adgrb1 C T 15: 74,458,654 (GRCm39) T1252I probably damaging Het
Bhmt T C 13: 93,774,008 (GRCm39) probably benign Het
Ckap5 T C 2: 91,425,186 (GRCm39) probably benign Het
Clcn4 T C 7: 7,299,065 (GRCm39) T37A probably benign Het
Cnmd C T 14: 79,899,400 (GRCm39) V18I probably benign Het
Cryl1 C T 14: 57,513,478 (GRCm39) V248M probably benign Het
D830039M14Rik C T 10: 61,311,262 (GRCm39) probably benign Het
Dido1 T C 2: 180,331,128 (GRCm39) T107A possibly damaging Het
Efna5 C A 17: 62,958,023 (GRCm39) V78F probably damaging Het
Eml1 A G 12: 108,503,625 (GRCm39) I741V probably benign Het
Gfap A G 11: 102,787,780 (GRCm39) L55P probably damaging Het
Itga6 A G 2: 71,669,027 (GRCm39) I606V probably benign Het
Kif2c G T 4: 117,019,802 (GRCm39) D579E probably damaging Het
Lef1 T C 3: 130,988,442 (GRCm39) probably null Het
Lrrc1 T A 9: 77,342,404 (GRCm39) I357L probably benign Het
Lrrc37 A G 11: 103,504,109 (GRCm39) S2620P probably benign Het
Map3k20 T A 2: 72,202,239 (GRCm39) F157I probably damaging Het
Naga A T 15: 82,214,337 (GRCm39) N391K probably damaging Het
Ncaph T C 2: 126,968,025 (GRCm39) probably benign Het
Or11g2 C A 14: 50,856,185 (GRCm39) Q169K probably benign Het
Or12d13 T A 17: 37,647,887 (GRCm39) M79L probably benign Het
Or5ae1 T G 7: 84,565,567 (GRCm39) Y193* probably null Het
Or6b9 T A 7: 106,555,598 (GRCm39) I182F possibly damaging Het
Or6c2b T G 10: 128,947,904 (GRCm39) Y130S probably damaging Het
Or8g55 T A 9: 39,784,906 (GRCm39) C112S possibly damaging Het
Pappa C A 4: 65,074,863 (GRCm39) D472E possibly damaging Het
Pdxk G A 10: 78,287,319 (GRCm39) L81F probably damaging Het
Pkhd1 G T 1: 20,380,934 (GRCm39) T2635K probably damaging Het
Ptpn6 C T 6: 124,705,623 (GRCm39) G135E probably benign Het
Ptprz1 T A 6: 22,972,844 (GRCm39) D251E probably benign Het
Ralgapa1 A G 12: 55,689,234 (GRCm39) V1955A possibly damaging Het
Rsph4a T C 10: 33,781,148 (GRCm39) probably benign Het
Sh2d4b T C 14: 40,542,700 (GRCm39) T359A probably benign Het
Sh3bp5l A G 11: 58,237,087 (GRCm39) D348G probably damaging Het
Skint5 A T 4: 113,797,932 (GRCm39) M217K probably damaging Het
Slc30a6 T C 17: 74,711,054 (GRCm39) L49P probably damaging Het
Slc8a1 C T 17: 81,956,173 (GRCm39) M288I probably benign Het
Tmem127 C A 2: 127,097,922 (GRCm39) probably null Het
Tnfrsf17 T C 16: 11,131,811 (GRCm39) probably benign Het
Trak1 A T 9: 121,277,967 (GRCm39) N341I probably damaging Het
Ubr5 A G 15: 38,002,692 (GRCm39) I1453T probably benign Het
Wdr62 T C 7: 29,944,709 (GRCm39) probably null Het
Xrn2 T C 2: 146,880,216 (GRCm39) probably benign Het
Zscan10 C T 17: 23,827,119 (GRCm39) A144V possibly damaging Het
Other mutations in Psmb6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Psmb6 APN 11 70,417,412 (GRCm39) missense possibly damaging 0.83
IGL02380:Psmb6 APN 11 70,416,737 (GRCm39) missense probably benign 0.00
R0025:Psmb6 UTSW 11 70,417,171 (GRCm39) missense probably benign 0.01
R6349:Psmb6 UTSW 11 70,418,364 (GRCm39) nonsense probably null
R7723:Psmb6 UTSW 11 70,417,396 (GRCm39) missense possibly damaging 0.74
Posted On 2015-04-16