Incidental Mutation 'R1598:Psmd9'
ID 175941
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 039635-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R1598 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 123366253-123388189 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 123379980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 133 (V133E)
Ref Sequence ENSEMBL: ENSMUSP00000143635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100729] [ENSMUST00000197809] [ENSMUST00000198183]
AlphaFold Q9CR00
Predicted Effect probably damaging
Transcript: ENSMUST00000100729
AA Change: V179E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098295
Gene: ENSMUSG00000029440
AA Change: V179E

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 probably damaging
Transcript: ENSMUST00000197809
AA Change: V133E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143635
Gene: ENSMUSG00000029440
AA Change: V133E

DomainStartEndE-ValueType
PDB:3WHL|H 1 53 9e-8 PDB
PDZ 75 148 1.5e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000198183
AA Change: V28E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142433
Gene: ENSMUSG00000029440
AA Change: V28E

DomainStartEndE-ValueType
Blast:PDZ 1 45 6e-16 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199260
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik G A 11: 80,254,838 (GRCm39) Q328* probably null Het
Aadacl4fm4 T A 4: 144,396,994 (GRCm39) K246I possibly damaging Het
Adamts1 G A 16: 85,595,399 (GRCm39) Q260* probably null Het
Add2 A T 6: 86,075,628 (GRCm39) Y259F probably benign Het
Bora T C 14: 99,305,840 (GRCm39) V403A probably benign Het
Ccnl1 G A 3: 65,854,191 (GRCm39) R477W probably damaging Het
Cdc25a CG CGG 9: 109,708,961 (GRCm39) probably null Het
Cdr2l T C 11: 115,284,203 (GRCm39) S180P probably damaging Het
Cep290 T A 10: 100,385,191 (GRCm39) L1889Q probably damaging Het
Ces4a T C 8: 105,869,453 (GRCm39) V208A probably damaging Het
Col2a1 T C 15: 97,877,131 (GRCm39) D1049G probably damaging Het
Coro1a A T 7: 126,300,864 (GRCm39) N154K possibly damaging Het
Cubn T A 2: 13,474,600 (GRCm39) R401S probably benign Het
Cul7 A T 17: 46,974,017 (GRCm39) Q1434L probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dars1 G T 1: 128,301,709 (GRCm39) D308E probably benign Het
Dna2 T A 10: 62,797,436 (GRCm39) F604I probably damaging Het
Dnah1 T G 14: 31,023,219 (GRCm39) I1033L probably benign Het
Erlin1 T C 19: 44,036,112 (GRCm39) E206G probably damaging Het
Esrp2 T A 8: 106,859,905 (GRCm39) E345D probably damaging Het
Foxa1 T C 12: 57,589,473 (GRCm39) D249G possibly damaging Het
Ghsr C A 3: 27,426,426 (GRCm39) L161M probably benign Het
Gm57858 C T 3: 36,073,146 (GRCm39) A379T probably damaging Het
Gpr155 C A 2: 73,200,434 (GRCm39) V358F probably damaging Het
H2-Eb2 A T 17: 34,553,348 (GRCm39) N178I probably damaging Het
Hydin T A 8: 111,137,306 (GRCm39) I703N possibly damaging Het
Kctd15 A G 7: 34,341,417 (GRCm39) V170A probably damaging Het
Klhl31 A T 9: 77,558,298 (GRCm39) Y338F possibly damaging Het
Krt5 C T 15: 101,620,876 (GRCm39) A124T probably benign Het
Krt72 T A 15: 101,688,688 (GRCm39) I331F probably benign Het
Lrp1b T A 2: 41,401,490 (GRCm39) D388V probably damaging Het
Ly9 A G 1: 171,424,075 (GRCm39) V382A probably benign Het
Mon2 T C 10: 122,852,301 (GRCm39) Y1024C probably damaging Het
Myh14 A G 7: 44,287,818 (GRCm39) F572L probably damaging Het
Myh3 A T 11: 66,983,997 (GRCm39) D987V probably damaging Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Nphp4 A G 4: 152,646,547 (GRCm39) T1360A probably benign Het
Oog4 A G 4: 143,164,571 (GRCm39) L320P probably damaging Het
Or4k49 G T 2: 111,495,099 (GRCm39) S176I probably damaging Het
Or5m9 C T 2: 85,877,657 (GRCm39) T277I probably damaging Het
Or5w8 T A 2: 87,688,095 (GRCm39) I192K probably benign Het
Pcnx2 T C 8: 126,498,825 (GRCm39) N1558S probably benign Het
Pde10a A G 17: 9,147,976 (GRCm39) E147G probably damaging Het
Pgbd5 T A 8: 125,101,026 (GRCm39) H410L probably benign Het
Plce1 A C 19: 38,709,440 (GRCm39) D1098A probably damaging Het
Psg25 G A 7: 18,265,928 (GRCm39) Q16* probably null Het
Rabgap1 C T 2: 37,451,911 (GRCm39) S937F probably damaging Het
Rbck1 A G 2: 152,165,090 (GRCm39) probably null Het
Rprd2 C G 3: 95,726,051 (GRCm39) probably benign Het
Rrs1 A G 1: 9,616,137 (GRCm39) N130S probably benign Het
Scmh1 A T 4: 120,372,327 (GRCm39) I377F possibly damaging Het
Skor1 G T 9: 63,053,286 (GRCm39) R228S probably damaging Het
Slc2a4 A G 11: 69,835,844 (GRCm39) V335A probably benign Het
Slc4a9 G A 18: 36,661,424 (GRCm39) W62* probably null Het
Styxl2 G A 1: 165,937,828 (GRCm39) T77I probably benign Het
Taar9 G T 10: 23,985,305 (GRCm39) A43D possibly damaging Het
Tns4 T C 11: 98,961,243 (GRCm39) Y645C probably damaging Het
Tpcn2 G T 7: 144,830,957 (GRCm39) Y129* probably null Het
Trpm3 T C 19: 22,710,388 (GRCm39) S278P possibly damaging Het
Ttc3 T C 16: 94,223,156 (GRCm39) W615R probably damaging Het
Ttll5 T C 12: 85,910,372 (GRCm39) V207A probably damaging Het
Ubr7 G T 12: 102,736,153 (GRCm39) M358I probably damaging Het
Urb1 C A 16: 90,574,328 (GRCm39) V918F possibly damaging Het
Vmn2r51 G A 7: 9,839,432 (GRCm39) T52I probably benign Het
Vmn2r95 A T 17: 18,672,575 (GRCm39) I771F probably benign Het
Wfdc16 T C 2: 164,477,350 (GRCm39) S107G probably benign Het
Zmym2 A G 14: 57,140,226 (GRCm39) T22A possibly damaging Het
Zmym2 G A 14: 57,151,524 (GRCm39) G470R probably damaging 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
R2024:Psmd9 UTSW 5 123,379,925 (GRCm39) missense probably damaging 1.00
R3811:Psmd9 UTSW 5 123,372,653 (GRCm39) unclassified probably benign
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'- TTGACCTCGTTACTTAGAGCCTGCC -3'
(R):5'- ATCCAGCCCTTAAGCAAACTGTGTC -3'

Sequencing Primer
(F):5'- CTGTAGGAAACAAGCTCTTGGTC -3'
(R):5'- ccttaAGCAAACTGTGTCATCCTTG -3'
Posted On 2014-04-24