Incidental Mutation 'R4979:Psmb1'
ID 384708
Institutional Source Beutler Lab
Gene Symbol Psmb1
Ensembl Gene ENSMUSG00000014769
Gene Name proteasome (prosome, macropain) subunit, beta type 1
Synonyms Lmpc5
MMRRC Submission 042574-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.942) question?
Stock # R4979 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 15475021-15499751 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 15476189 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 85 (M85K)
Ref Sequence ENSEMBL: ENSMUSP00000156359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014913] [ENSMUST00000231341] [ENSMUST00000232500]
AlphaFold O09061
Predicted Effect probably benign
Transcript: ENSMUST00000014913
AA Change: M185K

PolyPhen 2 Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000014913
Gene: ENSMUSG00000014769
AA Change: M185K

Pfam:Proteasome 33 225 8.9e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231341
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231696
Predicted Effect probably benign
Transcript: ENSMUST00000232500
AA Change: M85K

PolyPhen 2 Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)
Meta Mutation Damage Score 0.0879 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.4%
Validation Efficiency 99% (79/80)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G A 17: 9,001,811 (GRCm38) E381K probably damaging Het
Abca1 T C 4: 53,085,092 (GRCm38) probably null Het
Abca7 C T 10: 80,004,783 (GRCm38) Q870* probably null Het
Ambp C T 4: 63,152,651 (GRCm38) V64M probably benign Het
Ank1 T C 8: 23,132,196 (GRCm38) V1542A probably damaging Het
Anln T C 9: 22,376,501 (GRCm38) Y168C probably benign Het
Apoa4 T A 9: 46,241,505 (GRCm38) N29K probably benign Het
Arfgef1 T C 1: 10,213,109 (GRCm38) T192A probably damaging Het
Atad2b G T 12: 5,034,513 (GRCm38) D1420Y probably damaging Het
Baiap3 A G 17: 25,246,362 (GRCm38) W648R possibly damaging Het
Bank1 A G 3: 136,254,901 (GRCm38) L198P probably damaging Het
Bicd2 A G 13: 49,379,464 (GRCm38) K509E possibly damaging Het
Cacna1e T C 1: 154,413,993 (GRCm38) D1821G probably damaging Het
Ccdc80 G A 16: 45,116,287 (GRCm38) V692M possibly damaging Het
Ccdc88a C T 11: 29,482,133 (GRCm38) Q308* probably null Het
Ccl8 T C 11: 82,116,147 (GRCm38) V62A probably damaging Het
Clspn C A 4: 126,578,386 (GRCm38) P951Q probably damaging Het
Cngb1 T A 8: 95,259,157 (GRCm38) I858F probably damaging Het
Cspp1 T A 1: 10,126,463 (GRCm38) N900K probably damaging Het
Ctc1 C T 11: 69,033,502 (GRCm38) A960V probably damaging Het
Ctnnd2 A G 15: 31,009,075 (GRCm38) E1106G probably damaging Het
Dido1 C T 2: 180,660,813 (GRCm38) R1766H probably damaging Het
Dnajc13 G T 9: 104,186,723 (GRCm38) N1341K probably damaging Het
Dnase1l1 C T X: 74,277,038 (GRCm38) probably null Homo
E2f8 G A 7: 48,875,170 (GRCm38) probably benign Het
Entpd8 A G 2: 25,082,955 (GRCm38) D91G possibly damaging Het
Fam69a A T 5: 107,909,534 (GRCm38) L386* probably null Het
Fars2 A G 13: 36,204,581 (GRCm38) R18G possibly damaging Het
Fcgbp A G 7: 28,117,570 (GRCm38) S2486G probably benign Het
Fibin C T 2: 110,362,618 (GRCm38) D60N possibly damaging Het
Fpgs A G 2: 32,687,367 (GRCm38) probably benign Het
Galnt15 A G 14: 32,043,290 (GRCm38) D303G probably damaging Het
Gli3 C A 13: 15,724,464 (GRCm38) T812K possibly damaging Het
Gpbar1 G C 1: 74,279,245 (GRCm38) A216P probably benign Het
Grin2d A G 7: 45,857,933 (GRCm38) I448T probably benign Het
Il21 C A 3: 37,232,504 (GRCm38) S21I probably damaging Het
Iqce G T 5: 140,691,621 (GRCm38) D148E probably damaging Het
Iqcg T A 16: 33,019,514 (GRCm38) E354V probably damaging Het
Iws1 T C 18: 32,093,267 (GRCm38) probably benign Het
Ly75 C T 2: 60,375,894 (GRCm38) G144S probably damaging Het
Marco C A 1: 120,494,225 (GRCm38) M83I probably benign Het
Mettl6 A T 14: 31,479,795 (GRCm38) L185H probably damaging Het
Mppe1 C T 18: 67,229,702 (GRCm38) G154D probably damaging Het
Mrpl42 T C 10: 95,490,375 (GRCm38) E85G probably benign Het
Neb A G 2: 52,189,909 (GRCm38) V5518A probably damaging Het
Olfr103 A T 17: 37,336,868 (GRCm38) F121L probably benign Het
Olfr1458 A T 19: 13,102,689 (GRCm38) I199N probably damaging Het
Olfr656 T A 7: 104,618,605 (GRCm38) F317I probably null Het
Olfr77 G T 9: 19,920,359 (GRCm38) S50I probably benign Het
Olfr8 T A 10: 78,955,932 (GRCm38) C242* probably null Het
Perm1 A G 4: 156,217,577 (GRCm38) T193A probably benign Het
Prkd2 T A 7: 16,848,727 (GRCm38) C172S probably damaging Het
Prr23a3 T A 9: 98,865,378 (GRCm38) D128E possibly damaging Het
Prss28 A G 17: 25,309,737 (GRCm38) Y51C probably damaging Het
Rae1 T A 2: 173,012,608 (GRCm38) probably benign Het
Rasal1 A G 5: 120,678,676 (GRCm38) D759G probably benign Het
Rcvrn G A 11: 67,695,420 (GRCm38) G2R probably damaging Het
Robo3 C T 9: 37,423,344 (GRCm38) A597T probably damaging Het
Rsf1 GCG GCGACGGCGCCG 7: 97,579,907 (GRCm38) probably benign Homo
Sdcbp T A 4: 6,378,980 (GRCm38) Y22* probably null Het
Sin3a T C 9: 57,118,076 (GRCm38) F1069L probably damaging Het
Slitrk3 C T 3: 73,049,796 (GRCm38) V548I possibly damaging Het
Tbc1d22a A G 15: 86,391,086 (GRCm38) H403R probably damaging Het
Tbr1 G T 2: 61,805,249 (GRCm38) probably null Het
Tiam2 T A 17: 3,505,710 (GRCm38) D65E probably damaging Het
Tpcn2 A G 7: 145,260,096 (GRCm38) S488P probably benign Het
Trav9-2 T C 14: 53,591,238 (GRCm38) S22P probably damaging Het
Trim34a T A 7: 104,247,862 (GRCm38) N44K probably benign Het
Unc79 C G 12: 103,112,432 (GRCm38) P1619A probably benign Het
Usp22 A T 11: 61,157,216 (GRCm38) V426E probably damaging Het
Vhl A T 6: 113,624,198 (GRCm38) M20L unknown Het
Vmn1r215 G A 13: 23,075,894 (GRCm38) A35T probably benign Het
Vmn1r222 G A 13: 23,232,432 (GRCm38) L204F possibly damaging Het
Zfp871 A T 17: 32,775,855 (GRCm38) H115Q probably damaging Het
Zpr1 T A 9: 46,278,342 (GRCm38) F340L probably benign Het
Other mutations in Psmb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02227:Psmb1 APN 17 15,490,284 (GRCm38) start codon destroyed probably null 0.21
R0416:Psmb1 UTSW 17 15,494,519 (GRCm38) missense probably benign 0.00
R3908:Psmb1 UTSW 17 15,490,281 (GRCm38) missense probably damaging 1.00
R4946:Psmb1 UTSW 17 15,498,216 (GRCm38) missense probably benign 0.01
R4976:Psmb1 UTSW 17 15,498,262 (GRCm38) start codon destroyed probably null 0.99
R5119:Psmb1 UTSW 17 15,498,262 (GRCm38) start codon destroyed probably null 0.99
R5506:Psmb1 UTSW 17 15,490,216 (GRCm38) missense probably damaging 1.00
R5939:Psmb1 UTSW 17 15,498,178 (GRCm38) missense probably damaging 1.00
R6848:Psmb1 UTSW 17 15,477,247 (GRCm38) missense probably benign 0.03
R7178:Psmb1 UTSW 17 15,477,259 (GRCm38) missense possibly damaging 0.50
R7701:Psmb1 UTSW 17 15,477,247 (GRCm38) missense probably benign 0.03
R7891:Psmb1 UTSW 17 15,494,486 (GRCm38) missense probably benign 0.01
R9369:Psmb1 UTSW 17 15,490,216 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-05-10