Incidental Mutation 'R3822:Psmb7'
ID 275213
Institutional Source Beutler Lab
Gene Symbol Psmb7
Ensembl Gene ENSMUSG00000026750
Gene Name proteasome (prosome, macropain) subunit, beta type 7
Synonyms MC14
MMRRC Submission 040884-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R3822 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 38478058-38533964 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 38503440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 benign
Transcript: ENSMUST00000028083
SMART Domains Protein: ENSMUSP00000028083
Gene: ENSMUSG00000026750

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (34/34)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 T A 11: 101,301,971 (GRCm39) I332F probably damaging Het
Acp3 G T 9: 104,201,916 (GRCm39) Q76K probably damaging Het
Anp32e A T 3: 95,842,181 (GRCm39) I100L probably benign Het
Ccdc13 C A 9: 121,660,085 (GRCm39) L76F probably damaging Het
Cd44 T C 2: 102,731,738 (GRCm39) probably null Het
Chka A G 19: 3,932,038 (GRCm39) probably benign Het
Cnot6 A T 11: 49,579,999 (GRCm39) S98T probably benign Het
Cth A G 3: 157,624,136 (GRCm39) F127S probably benign Het
Dnah9 C A 11: 65,741,829 (GRCm39) probably null Het
Dysf T C 6: 84,184,070 (GRCm39) probably benign Het
Flad1 T A 3: 89,318,494 (GRCm39) I20F probably damaging Het
Gm20730 C T 6: 43,058,656 (GRCm39) S52N probably benign Het
Gpr89 A G 3: 96,800,260 (GRCm39) S113P probably benign Het
Herpud2 G A 9: 25,036,220 (GRCm39) Q147* probably null Het
Hivep1 A T 13: 42,337,787 (GRCm39) H2622L possibly damaging Het
Hlcs T C 16: 94,068,840 (GRCm39) N274D probably benign Het
Ido2 T C 8: 25,023,771 (GRCm39) I356V probably benign Het
Insyn2b T C 11: 34,353,007 (GRCm39) S350P probably benign Het
Itgam A G 7: 127,711,458 (GRCm39) probably null Het
Lama1 C A 17: 68,086,041 (GRCm39) probably null Het
Lrrc4b T A 7: 44,111,982 (GRCm39) V618E probably damaging Het
Man1a2 A G 3: 100,539,913 (GRCm39) I176T possibly damaging Het
Mns1 A G 9: 72,346,730 (GRCm39) E71G probably damaging Het
Ncoa6 T A 2: 155,248,858 (GRCm39) N1482I probably damaging Het
Neto2 C A 8: 86,389,924 (GRCm39) E180* probably null Het
Rin2 C T 2: 145,664,550 (GRCm39) T60M probably benign Het
Slc28a3 A G 13: 58,706,092 (GRCm39) V639A probably benign Het
Tenm2 A T 11: 35,915,147 (GRCm39) I2129N probably damaging Het
Topaz1 A G 9: 122,626,848 (GRCm39) D1492G possibly damaging Het
Trank1 G A 9: 111,207,887 (GRCm39) G1711R probably damaging Het
Trpm1 A G 7: 63,867,451 (GRCm39) probably benign Het
Ugt1a6a T A 1: 88,066,251 (GRCm39) V19E probably benign Het
Vmn2r60 A T 7: 41,785,125 (GRCm39) E112D probably damaging Het
Wdr4 T G 17: 31,731,195 (GRCm39) Q55P probably damaging Het
Xpnpep1 G A 19: 52,992,250 (GRCm39) probably benign Het
Zfyve16 A T 13: 92,657,769 (GRCm39) L714Q probably damaging Het
Other mutations in Psmb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
reclamation UTSW 2 38,523,976 (GRCm39) missense possibly damaging 0.94
R0029:Psmb7 UTSW 2 38,523,919 (GRCm39) missense probably damaging 0.96
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
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'- AACCGCACTGGCTTCTCAAG -3'
(R):5'- GTGGCCTCTAGACTTGACAC -3'

Sequencing Primer
(F):5'- CCTGAGGCAGAACACAACAGG -3'
(R):5'- ACATTACACTTGAATGTGACACTGGG -3'
Posted On 2015-04-02