Incidental Mutation 'R7723:Psmb6'
ID 595355
Institutional Source Beutler Lab
Gene Symbol Psmb6
Ensembl Gene ENSMUSG00000018286
Gene Name proteasome (prosome, macropain) subunit, beta type 6
Synonyms subunit 2, Mpnd, Lmp19
MMRRC Submission 045779-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R7723 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 70416193-70418684 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70417396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 109 (V109A)
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: V109A

PolyPhen 2 Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000018430
Gene: ENSMUSG00000018286
AA Change: V109A

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:Proteasome 30 212 1.3e-47 PFAM
Meta Mutation Damage Score 0.8707 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (57/57)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apbb1ip G A 2: 22,761,574 (GRCm39) probably null Het
Brinp3 C T 1: 146,577,409 (GRCm39) T148I probably damaging Het
C1qa A T 4: 136,623,744 (GRCm39) C153* probably null Het
Camkk1 G T 11: 72,928,058 (GRCm39) R363L probably benign Het
Ccdc80 T G 16: 44,946,798 (GRCm39) probably null Het
Cenpu T C 8: 47,029,349 (GRCm39) S351P probably damaging Het
Chd9 C T 8: 91,741,837 (GRCm39) L1609F unknown Het
Cnr1 T A 4: 33,944,416 (GRCm39) I268N probably damaging Het
Cyp3a59 A T 5: 146,016,154 (GRCm39) I4F probably benign Het
Dph6 A G 2: 114,475,236 (GRCm39) V93A probably damaging Het
Egf T A 3: 129,499,786 (GRCm39) M785L probably benign Het
Fbn1 A T 2: 125,223,954 (GRCm39) C598* probably null Het
Fer T C 17: 64,203,273 (GRCm39) S68P probably damaging Het
Herc1 C T 9: 66,279,158 (GRCm39) T22I probably benign Het
Kat2b A G 17: 53,945,415 (GRCm39) D278G possibly damaging Het
Kdm1a C T 4: 136,285,060 (GRCm39) V520I probably benign Het
Lrrc4c G T 2: 97,460,999 (GRCm39) V542L possibly damaging Het
Lrrtm3 T C 10: 63,924,427 (GRCm39) T247A possibly damaging Het
Macf1 T C 4: 123,326,717 (GRCm39) S4929G probably benign Het
Mbd4 A T 6: 115,822,324 (GRCm39) H428Q possibly damaging Het
Mink1 C G 11: 70,503,736 (GRCm39) Q1183E probably benign Het
Myo9a C T 9: 59,687,141 (GRCm39) P82L probably damaging Het
Nts T C 10: 102,320,784 (GRCm39) T102A probably damaging Het
Nup35 T C 2: 80,486,375 (GRCm39) I230T possibly damaging Het
Nwd2 A T 5: 63,965,347 (GRCm39) T1644S possibly damaging Het
Nynrin T A 14: 56,109,502 (GRCm39) N1536K possibly damaging Het
Or10d5j A T 9: 39,867,920 (GRCm39) Y104N possibly damaging Het
Or13p10 A G 4: 118,522,914 (GRCm39) S67G probably benign Het
Or2at4 A G 7: 99,384,884 (GRCm39) Y178C possibly damaging Het
Or2l13b A T 16: 19,349,358 (GRCm39) L104* probably null Het
Or5d44 A C 2: 88,141,819 (GRCm39) V107G possibly damaging Het
Palld C T 8: 62,164,492 (GRCm39) V400I probably damaging Het
Pank2 T C 2: 131,122,258 (GRCm39) V261A probably damaging Het
Pcdhb3 C A 18: 37,435,565 (GRCm39) N510K probably damaging Het
Pfkfb2 A T 1: 130,635,325 (GRCm39) Y79N probably damaging Het
Phc2 C T 4: 128,616,882 (GRCm39) A385V probably benign Het
Prob1 T C 18: 35,785,942 (GRCm39) T771A possibly damaging Het
Ptcd1 T C 5: 145,091,639 (GRCm39) T487A probably damaging Het
Ralgapa1 A T 12: 55,788,298 (GRCm39) M595K probably benign Het
Rps12 A T 10: 23,662,752 (GRCm39) V14D probably benign Het
Scn3b C A 9: 40,199,693 (GRCm39) S203* probably null Het
Serinc1 G A 10: 57,403,918 (GRCm39) P15L probably benign Het
Six2 A G 17: 85,995,103 (GRCm39) I93T probably benign Het
Slco1a1 T A 6: 141,854,795 (GRCm39) I619F probably damaging Het
Snx25 A C 8: 46,491,516 (GRCm39) V858G probably damaging Het
Sspo G A 6: 48,441,572 (GRCm39) C1903Y probably damaging Het
Tas2r116 T A 6: 132,832,867 (GRCm39) I156N probably benign Het
Tasp1 G T 2: 139,827,051 (GRCm39) T189K probably damaging Het
Tdrd6 A T 17: 43,936,851 (GRCm39) M1399K probably benign Het
Tecta C A 9: 42,278,232 (GRCm39) C1092F probably damaging Het
Tmem150a G A 6: 72,336,057 (GRCm39) V215I probably damaging Het
Tmem176b C T 6: 48,812,869 (GRCm39) V109I probably benign Het
Trav8d-1 T A 14: 53,016,321 (GRCm39) I69K probably damaging Het
Ttn A T 2: 76,638,419 (GRCm39) L13954I probably damaging Het
Veph1 C A 3: 66,113,093 (GRCm39) C237F possibly damaging Het
Vmn1r121 G A 7: 20,832,119 (GRCm39) T107I probably damaging Het
Zdhhc13 G A 7: 48,458,567 (GRCm39) M300I probably benign Het
Zfp608 T C 18: 55,030,673 (GRCm39) D1089G probably 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
IGL02556:Psmb6 APN 11 70,417,248 (GRCm39) missense possibly damaging 0.66
R0025:Psmb6 UTSW 11 70,417,171 (GRCm39) missense probably benign 0.01
R6349:Psmb6 UTSW 11 70,418,364 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACGCTGTCACTTACCAGCTTG -3'
(R):5'- TCTCGGGAAAGTTAATGGTGAG -3'

Sequencing Primer
(F):5'- AGCTTGGTTTCCACAGGTAC -3'
(R):5'- GGCATGTGTATCTGTAACCCCAG -3'
Posted On 2019-11-12