Incidental Mutation 'R3811:Psmd9'
ID 275194
Institutional Source Beutler Lab
Gene Symbol Psmd9
Ensembl Gene ENSMUSG00000029440
Gene Name proteasome (prosome, macropain) 26S subunit, non-ATPase, 9
Synonyms P27, Bridge-1, 1500011J20Rik
MMRRC Submission 040767-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R3811 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 123366253-123388189 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 123372653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100729] [ENSMUST00000197809]
AlphaFold Q9CR00
Predicted Effect probably benign
Transcript: ENSMUST00000100729
SMART Domains Protein: ENSMUSP00000098295
Gene: ENSMUSG00000029440

DomainStartEndE-ValueType
low complexity region 9 19 N/A INTRINSIC
Blast:PDZ 20 58 7e-7 BLAST
PDB:3WHL|H 23 99 2e-12 PDB
PDZ 121 195 5.02e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181022
Predicted Effect probably benign
Transcript: ENSMUST00000197809
SMART Domains Protein: ENSMUSP00000143635
Gene: ENSMUSG00000029440

DomainStartEndE-ValueType
PDB:3WHL|H 1 53 9e-8 PDB
PDZ 75 148 1.5e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199260
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200560
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 97% (36/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core 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. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase 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 non-ATPase subunit of the 19S regulator. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 G T 6: 34,776,664 (GRCm39) S385I probably damaging Het
Arhgap28 G A 17: 68,203,088 (GRCm39) P122S probably benign Het
Arid2 T C 15: 96,186,967 (GRCm39) V73A probably benign Het
Atp1b1 C T 1: 164,270,874 (GRCm39) R35H probably benign Het
Cacybp T C 1: 160,031,222 (GRCm39) D202G probably benign Het
Chsy3 C G 18: 59,309,242 (GRCm39) P165R probably benign Het
Creb3 C T 4: 43,565,501 (GRCm39) Q227* probably null Het
Crnkl1 C A 2: 145,773,226 (GRCm39) R140L probably damaging Het
Cyth4 A G 15: 78,488,849 (GRCm39) E39G probably damaging Het
Dnah6 T C 6: 73,168,481 (GRCm39) T481A probably benign Het
Dock4 T A 12: 40,829,123 (GRCm39) I1003N possibly damaging Het
Galntl5 T C 5: 25,391,178 (GRCm39) F26L probably benign Het
Glrx5 C G 12: 104,999,147 (GRCm39) C63W probably damaging Het
Gm9602 T A 14: 15,932,645 (GRCm39) I28N probably damaging Het
Hivep2 A G 10: 14,006,101 (GRCm39) T900A probably benign Het
Hmcn1 A G 1: 150,525,328 (GRCm39) probably null Het
Ighv1-24 G T 12: 114,736,685 (GRCm39) L72I probably benign Het
Ilvbl G A 10: 78,414,869 (GRCm39) C244Y probably benign Het
Kat7 A G 11: 95,182,441 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Lamc1 A T 1: 153,138,454 (GRCm39) probably null Het
Mall T A 2: 127,550,774 (GRCm39) I129F probably damaging Het
Mdn1 A T 4: 32,693,506 (GRCm39) K1044* probably null Het
Med23 A T 10: 24,768,490 (GRCm39) R77* probably null Het
Med23 G A 10: 24,768,491 (GRCm39) probably null Het
Metap2 A T 10: 93,706,026 (GRCm39) L252* probably null Het
Or8k28 A T 2: 86,285,691 (GRCm39) V308E probably benign Het
Psmd1 T A 1: 86,060,437 (GRCm39) V828D probably damaging Het
Rbbp5 T C 1: 132,420,325 (GRCm39) V59A probably damaging Het
Sco2 T C 15: 89,257,882 (GRCm39) probably benign Het
Slc32a1 G T 2: 158,456,656 (GRCm39) C437F possibly damaging Het
Spem2 T C 11: 69,707,990 (GRCm39) E325G possibly damaging Het
Steap4 A G 5: 8,027,017 (GRCm39) T327A probably benign Het
Tsc2 T C 17: 24,848,011 (GRCm39) D70G probably benign Het
Txndc5 T C 13: 38,707,381 (GRCm39) K99E probably benign Het
Other mutations in Psmd9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01976:Psmd9 APN 5 123,372,697 (GRCm39) missense probably damaging 0.99
IGL02354:Psmd9 APN 5 123,386,379 (GRCm39) missense probably damaging 1.00
IGL02361:Psmd9 APN 5 123,386,379 (GRCm39) missense probably damaging 1.00
IGL02947:Psmd9 APN 5 123,384,278 (GRCm39) missense probably benign 0.01
R0318:Psmd9 UTSW 5 123,372,712 (GRCm39) missense possibly damaging 0.58
R1491:Psmd9 UTSW 5 123,366,410 (GRCm39) missense probably benign
R1598:Psmd9 UTSW 5 123,379,980 (GRCm39) missense probably damaging 1.00
R2024:Psmd9 UTSW 5 123,379,925 (GRCm39) missense probably damaging 1.00
R3816:Psmd9 UTSW 5 123,372,653 (GRCm39) unclassified probably benign
R3879:Psmd9 UTSW 5 123,372,653 (GRCm39) unclassified probably benign
R3880:Psmd9 UTSW 5 123,372,653 (GRCm39) unclassified probably benign
R8004:Psmd9 UTSW 5 123,379,998 (GRCm39) critical splice donor site probably null
R8143:Psmd9 UTSW 5 123,366,479 (GRCm39) missense probably damaging 1.00
R9337:Psmd9 UTSW 5 123,386,387 (GRCm39) missense probably damaging 1.00
R9758:Psmd9 UTSW 5 123,372,745 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAAACTGGTACCCACTGCAGAG -3'
(R):5'- AGCAGAAAAGCTTTGCAGTGC -3'

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