Incidental Mutation 'R0318:Psmd9'
ID 25499
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 038528-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R0318 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 123366253-123388189 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 123372712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 65 (A65E)
Ref Sequence ENSEMBL: ENSMUSP00000098295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100729] [ENSMUST00000197809]
AlphaFold Q9CR00
Predicted Effect possibly damaging
Transcript: ENSMUST00000100729
AA Change: A65E

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000098295
Gene: ENSMUSG00000029440
AA Change: A65E

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
AA Change: A19E

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000143635
Gene: ENSMUSG00000029440
AA Change: A19E

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
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.4%
  • 20x: 86.5%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 57,892,370 (GRCm39) L79Q probably damaging Het
Add1 T C 5: 34,782,684 (GRCm39) V130A probably damaging Het
Ankrd23 G T 1: 36,573,153 (GRCm39) T73K probably benign Het
Blk A G 14: 63,611,646 (GRCm39) Y430H probably damaging Het
C3 C T 17: 57,531,709 (GRCm39) V272M probably damaging Het
Cerk C T 15: 86,035,766 (GRCm39) A254T possibly damaging Het
Ces2a G A 8: 105,467,456 (GRCm39) A494T probably damaging Het
Cfap46 T C 7: 139,234,482 (GRCm39) Y258C probably damaging Het
Chaf1a C T 17: 56,369,227 (GRCm39) T486I possibly damaging Het
Colec12 A G 18: 9,848,446 (GRCm39) N208S possibly damaging Het
Coro7 T A 16: 4,493,671 (GRCm39) H63L probably benign Het
Cps1 T A 1: 67,216,173 (GRCm39) W833R probably damaging Het
Csmd3 A T 15: 47,522,549 (GRCm39) W2707R probably damaging Het
Dbn1 C T 13: 55,622,729 (GRCm39) E585K probably damaging Het
Ddx50 A T 10: 62,478,616 (GRCm39) I190K probably damaging Het
Dnmt3l G A 10: 77,890,889 (GRCm39) V264M probably damaging Het
Dnpep A G 1: 75,293,270 (GRCm39) V33A probably damaging Het
Fam163a A G 1: 155,955,715 (GRCm39) C26R probably damaging Het
Fam83h A G 15: 75,875,478 (GRCm39) S620P probably benign Het
Fcna A G 2: 25,515,071 (GRCm39) S263P probably benign Het
Fnip2 A T 3: 79,419,685 (GRCm39) S165R probably damaging Het
Fpr-rs3 T C 17: 20,844,410 (GRCm39) T244A probably benign Het
Gpr152 T C 19: 4,193,541 (GRCm39) S361P possibly damaging Het
Grm5 A T 7: 87,252,175 (GRCm39) I142L probably damaging Het
Gucy2g A G 19: 55,226,230 (GRCm39) S229P probably benign Het
Htr7 C T 19: 35,946,886 (GRCm39) G376D probably damaging Het
Irgc T C 7: 24,131,896 (GRCm39) D307G probably benign Het
Irs1 A T 1: 82,266,381 (GRCm39) S612T probably benign Het
Maml2 C T 9: 13,531,890 (GRCm39) T368I probably damaging Het
Mapkapk2 A G 1: 131,025,072 (GRCm39) V64A probably damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Nptx1 C T 11: 119,433,367 (GRCm39) E411K probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5ak25 C A 2: 85,268,581 (GRCm39) R307M possibly damaging Het
Pcgf5 A T 19: 36,389,590 (GRCm39) K22N possibly damaging Het
Sh3bp1 A G 15: 78,795,907 (GRCm39) T679A probably damaging Het
Sipa1l2 G A 8: 126,174,436 (GRCm39) P1281S possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc25a24 A G 3: 109,064,316 (GRCm39) M222V probably benign Het
Smg9 T C 7: 24,120,313 (GRCm39) F429S possibly damaging Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Sorl1 T A 9: 41,993,250 (GRCm39) Y258F probably damaging Het
Srp72 C T 5: 77,132,047 (GRCm39) T242I probably benign Het
Stc1 A T 14: 69,275,867 (GRCm39) Q220L probably damaging Het
Tas2r122 T C 6: 132,688,795 (GRCm39) T33A possibly damaging Het
Tbc1d10b A G 7: 126,798,206 (GRCm39) L645P probably damaging Het
Thoc2l T C 5: 104,665,619 (GRCm39) F47S probably benign Het
Timd4 T A 11: 46,727,898 (GRCm39) H272Q probably benign Het
Ttll5 T G 12: 85,923,368 (GRCm39) probably null Het
Veph1 G T 3: 65,964,680 (GRCm39) S783Y probably damaging Het
Vmn1r230 T C 17: 21,067,078 (GRCm39) L89S possibly damaging Het
Xcr1 A G 9: 123,685,219 (GRCm39) V165A possibly damaging Het
Zfp286 T C 11: 62,675,788 (GRCm39) D58G probably damaging Het
Zfyve26 C T 12: 79,323,055 (GRCm39) R897H 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
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
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'- ACAGAGCCTGATGTGTGCTAAAGAC -3'
(R):5'- TCGACATGCAACTCTGCCATCC -3'

Sequencing Primer
(F):5'- CCTGATGTGTGCTAAAGACATCAC -3'
(R):5'- AACTCTGCCATCCACCCTG -3'
Posted On 2013-04-16