Incidental Mutation 'R0029:Psmb7'
ID 44554
Institutional Source Beutler Lab
Gene Symbol Psmb7
Ensembl Gene ENSMUSG00000026750
Gene Name proteasome (prosome, macropain) subunit, beta type 7
Synonyms MC14
MMRRC Submission 038323-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R0029 (G1)
Quality Score 206
Status Validated
Chromosome 2
Chromosomal Location 38478058-38533964 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38523919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 152 (H152L)
Ref Sequence ENSEMBL: ENSMUSP00000028083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028083]
AlphaFold P70195
PDB Structure Mouse constitutive 20S proteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse constitutive 20S proteasome [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000028083
AA Change: H152L

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000028083
Gene: ENSMUSG00000026750
AA Change: H152L

DomainStartEndE-ValueType
Pfam:Proteasome 40 221 5.4e-52 PFAM
Pfam:Pr_beta_C 235 271 2e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151981
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175060
Meta Mutation Damage Score 0.3686 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency 94% (48/51)
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. Expression of this catalytic subunit is downregulated by gamma interferon, and proteolytic processing is required to generate a mature subunit. A pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,945,225 (GRCm39) F434L probably benign Het
Abt1 A T 13: 23,606,678 (GRCm39) F141Y possibly damaging Het
Anapc15-ps A G 10: 95,508,857 (GRCm39) I141T probably damaging Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Axin2 A G 11: 108,814,873 (GRCm39) T254A probably benign Het
Ccn4 C T 15: 66,784,713 (GRCm39) R129C probably damaging Het
Ciz1 A G 2: 32,261,431 (GRCm39) probably benign Het
Cpa4 A G 6: 30,585,044 (GRCm39) Y276C probably damaging Het
Cpt1a A G 19: 3,431,674 (GRCm39) D698G probably benign Het
Crebbp T C 16: 3,935,307 (GRCm39) T861A probably damaging Het
Dpy19l2 T A 9: 24,469,397 (GRCm39) D753V probably damaging Het
Exosc7 A T 9: 122,948,302 (GRCm39) probably benign Het
Fbxw28 T A 9: 109,157,357 (GRCm39) D244V probably damaging Het
Fgd5 A G 6: 92,044,539 (GRCm39) D1260G probably benign Het
Gapvd1 T A 2: 34,568,153 (GRCm39) I1404F probably damaging Het
Gas7 A G 11: 67,534,163 (GRCm39) S88G probably benign Het
Hk1 T C 10: 62,151,173 (GRCm39) D57G probably damaging Het
Il23r A C 6: 67,455,929 (GRCm39) probably null Het
Impg1 T C 9: 80,305,653 (GRCm39) D138G probably damaging Het
Itga2 G A 13: 115,007,032 (GRCm39) S432L possibly damaging Het
Kirrel2 A G 7: 30,152,590 (GRCm39) probably benign Het
Lipm T C 19: 34,093,948 (GRCm39) probably benign Het
Lrpap1 T C 5: 35,255,021 (GRCm39) N205S possibly damaging Het
Mboat4 T G 8: 34,587,363 (GRCm39) F87V probably damaging Het
Nadsyn1 G C 7: 143,359,815 (GRCm39) Q386E probably benign Het
Nell1 G A 7: 49,770,463 (GRCm39) probably benign Het
Or5ac25 T C 16: 59,181,904 (GRCm39) R226G probably benign Het
Or8g35 T A 9: 39,381,956 (GRCm39) E22V probably benign Het
Pard3 G T 8: 128,153,239 (GRCm39) probably benign Het
Per2 C A 1: 91,351,434 (GRCm39) R1024L possibly damaging Het
Phf11c T C 14: 59,622,364 (GRCm39) D216G probably benign Het
Polk G A 13: 96,653,178 (GRCm39) T74I probably damaging Het
Prmt6 T C 3: 110,157,214 (GRCm39) I358M probably benign Het
Ralgps1 A T 2: 33,031,031 (GRCm39) D498E probably benign Het
Slc26a2 G A 18: 61,335,382 (GRCm39) P24S possibly damaging Het
Slc4a11 A G 2: 130,529,974 (GRCm39) F268S probably damaging Het
Spmip11 T C 15: 98,483,190 (GRCm39) probably null Het
Stk38 T C 17: 29,201,112 (GRCm39) E188G probably benign Het
Sulf2 T C 2: 165,958,893 (GRCm39) N105S possibly damaging Het
Sult2a3 T A 7: 13,806,999 (GRCm39) M228L probably benign Het
Svil C A 18: 5,063,286 (GRCm39) D852E probably benign Het
Tcaf2 A T 6: 42,607,093 (GRCm39) L287* probably null Het
Tmem132e A T 11: 82,335,587 (GRCm39) I890F probably damaging Het
Tmem63a A G 1: 180,790,031 (GRCm39) Y401C probably benign Het
Ttn T C 2: 76,596,850 (GRCm39) E20021G probably damaging Het
Ubac1 G T 2: 25,911,455 (GRCm39) T31N probably benign Het
Usp29 T C 7: 6,964,580 (GRCm39) L141P probably damaging Het
Vmn1r179 A T 7: 23,628,630 (GRCm39) I274F probably benign Het
Vmn1r204 A G 13: 22,740,588 (GRCm39) Y73C probably benign Het
Vmn2r2 T C 3: 64,024,365 (GRCm39) I739V probably benign Het
Other mutations in Psmb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
reclamation UTSW 2 38,523,976 (GRCm39) missense possibly damaging 0.94
R0102:Psmb7 UTSW 2 38,533,377 (GRCm39) missense possibly damaging 0.80
R0102:Psmb7 UTSW 2 38,533,377 (GRCm39) missense possibly damaging 0.80
R3822:Psmb7 UTSW 2 38,503,440 (GRCm39) splice site probably benign
R4064:Psmb7 UTSW 2 38,530,188 (GRCm39) missense probably damaging 0.98
R4108:Psmb7 UTSW 2 38,532,211 (GRCm39) missense probably damaging 0.99
R4787:Psmb7 UTSW 2 38,478,283 (GRCm39) missense probably benign 0.00
R5731:Psmb7 UTSW 2 38,478,289 (GRCm39) missense probably damaging 1.00
R6160:Psmb7 UTSW 2 38,533,393 (GRCm39) missense probably damaging 1.00
R6266:Psmb7 UTSW 2 38,530,199 (GRCm39) missense probably damaging 1.00
R7616:Psmb7 UTSW 2 38,523,976 (GRCm39) missense possibly damaging 0.94
R8909:Psmb7 UTSW 2 38,503,481 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CATGTTGAAAGGTGAGACTTCCACCC -3'
(R):5'- TGCACACAGCTTACAGTAGCTCATTG -3'

Sequencing Primer
(F):5'- agtaacagagagttcctacatatcc -3'
(R):5'- CCTGGTTCCTATGCAGGTAATAATTC -3'
Posted On 2013-06-11