Incidental Mutation 'R5506:Psmb1'
ID 430946
Institutional Source Beutler Lab
Gene Symbol Psmb1
Ensembl Gene ENSMUSG00000014769
Gene Name proteasome (prosome, macropain) subunit, beta type 1
Synonyms Lmpc5
MMRRC Submission 043067-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # R5506 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 15695983-15718538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15710478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 24 (Y24H)
Ref Sequence ENSEMBL: ENSMUSP00000156359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014913] [ENSMUST00000231341] [ENSMUST00000232500]
AlphaFold O09061
Predicted Effect probably damaging
Transcript: ENSMUST00000014913
AA Change: Y124H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014913
Gene: ENSMUSG00000014769
AA Change: Y124H

DomainStartEndE-ValueType
Pfam:Proteasome 33 225 8.9e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000231341
AA Change: Y124H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000232500
AA Change: Y24H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9000 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.4%
  • 20x: 91.4%
Validation Efficiency 100% (53/53)
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. This gene is tightly linked to the TBP (TATA-binding protein) gene in human and in mouse, and is transcribed in the opposite orientation in both species. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,773,708 (GRCm39) G966W probably damaging Het
A930009A15Rik G T 10: 115,414,267 (GRCm39) probably null Het
Cant1 G T 11: 118,302,268 (GRCm39) H16Q probably benign Het
Capn3 G T 2: 120,332,901 (GRCm39) V612F probably damaging Het
Cep112 A T 11: 108,555,429 (GRCm39) E141D probably damaging Het
Cept1 A G 3: 106,438,564 (GRCm39) V173A probably benign Het
CN725425 A G 15: 91,120,029 (GRCm39) D50G possibly damaging Het
Cubn A T 2: 13,496,506 (GRCm39) probably null Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dpp8 A G 9: 64,985,391 (GRCm39) probably null Het
Ecm1 G A 3: 95,643,169 (GRCm39) T377I probably benign Het
Exosc8 A G 3: 54,638,600 (GRCm39) probably benign Het
Fasn C T 11: 120,700,336 (GRCm39) D2165N probably benign Het
Gab2 A G 7: 96,952,320 (GRCm39) E571G probably damaging Het
Galnt5 C A 2: 57,889,637 (GRCm39) H412Q probably benign Het
Galr1 T A 18: 82,423,989 (GRCm39) Y96F possibly damaging Het
Garin1b G A 6: 29,319,297 (GRCm39) E34K probably damaging Het
Gnl2 C A 4: 124,949,158 (GRCm39) probably benign Het
H2ac22 A C 13: 21,971,081 (GRCm39) I103S probably damaging Het
H2ax T C 9: 44,246,402 (GRCm39) V115A probably benign Het
Heatr9 T C 11: 83,405,592 (GRCm39) N317S possibly damaging Het
Kndc1 A G 7: 139,507,804 (GRCm39) Y1254C probably damaging Het
Lrp6 A T 6: 134,436,259 (GRCm39) D1302E probably benign Het
Mc2r A T 18: 68,541,019 (GRCm39) Y91* probably null Het
Meis1 T G 11: 18,891,747 (GRCm39) D267A possibly damaging Het
Mki67 T C 7: 135,301,710 (GRCm39) K1108R possibly damaging Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Myh3 T G 11: 66,974,915 (GRCm39) D219E probably damaging Het
Niban2 G A 2: 32,810,994 (GRCm39) V335M probably damaging Het
Or10g1b T C 14: 52,628,084 (GRCm39) I49V probably damaging Het
Or7e166 T C 9: 19,624,570 (GRCm39) L149P possibly damaging Het
Pi4ka A G 16: 17,111,817 (GRCm39) C1553R probably damaging Het
Plekhb1 C A 7: 100,294,150 (GRCm39) probably null Het
Polr3d A T 14: 70,678,199 (GRCm39) D165E possibly damaging Het
Prb1c T C 6: 132,338,819 (GRCm39) N133S unknown Het
Rab11fip5 A G 6: 85,351,119 (GRCm39) L131P probably damaging Het
Raph1 A T 1: 60,532,657 (GRCm39) probably benign Het
Rmc1 A G 18: 12,322,013 (GRCm39) probably benign Het
Scgb2b27 T G 7: 33,711,484 (GRCm39) probably benign Het
Serpina10 T C 12: 103,592,920 (GRCm39) D264G probably damaging Het
Sftpb A G 6: 72,281,651 (GRCm39) T15A possibly damaging Het
Slc20a1 T C 2: 129,052,739 (GRCm39) F674L probably benign Het
Syne2 A T 12: 75,985,495 (GRCm39) N1648Y probably benign Het
Thsd7a G T 6: 12,332,016 (GRCm39) N1265K possibly damaging Het
Trem2 T C 17: 48,658,802 (GRCm39) L189P probably benign Het
Washc4 A T 10: 83,417,201 (GRCm39) R865S probably damaging Het
Zfp536 A G 7: 37,268,217 (GRCm39) S400P probably damaging Het
Other mutations in Psmb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02227:Psmb1 APN 17 15,710,546 (GRCm39) start codon destroyed probably null 0.21
R0416:Psmb1 UTSW 17 15,714,781 (GRCm39) missense probably benign 0.00
R3908:Psmb1 UTSW 17 15,710,543 (GRCm39) missense probably damaging 1.00
R4946:Psmb1 UTSW 17 15,718,478 (GRCm39) missense probably benign 0.01
R4976:Psmb1 UTSW 17 15,718,524 (GRCm39) start codon destroyed probably null 0.99
R4979:Psmb1 UTSW 17 15,696,451 (GRCm39) missense probably benign 0.23
R5119:Psmb1 UTSW 17 15,718,524 (GRCm39) start codon destroyed probably null 0.99
R5939:Psmb1 UTSW 17 15,718,440 (GRCm39) missense probably damaging 1.00
R6848:Psmb1 UTSW 17 15,697,509 (GRCm39) missense probably benign 0.03
R7178:Psmb1 UTSW 17 15,697,521 (GRCm39) missense possibly damaging 0.50
R7701:Psmb1 UTSW 17 15,697,509 (GRCm39) missense probably benign 0.03
R7891:Psmb1 UTSW 17 15,714,748 (GRCm39) missense probably benign 0.01
R9369:Psmb1 UTSW 17 15,710,478 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTTGCTGTATGTCACTGAG -3'
(R):5'- GTACTGGTTGTTACTGAAGCTTGAC -3'

Sequencing Primer
(F):5'- CTGTATGTCACTGAGTGGTATTTATC -3'
(R):5'- GTTACTGAAGCTTGACAGATTCTG -3'
Posted On 2016-10-05