Incidental Mutation 'R9758:Psmd9'
ID 732845
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R9758 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 123366253-123388189 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 123372745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Methionine at position 76 (R76M)
Ref Sequence ENSEMBL: ENSMUSP00000098295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100729] [ENSMUST00000197809]
AlphaFold Q9CR00
Predicted Effect probably damaging
Transcript: ENSMUST00000100729
AA Change: R76M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098295
Gene: ENSMUSG00000029440
AA Change: R76M

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 probably damaging
Transcript: ENSMUST00000197809
AA Change: R30M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143635
Gene: ENSMUSG00000029440
AA Change: R30M

DomainStartEndE-ValueType
PDB:3WHL|H 1 53 9e-8 PDB
PDZ 75 148 1.5e-7 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actc1 T C 2: 113,879,799 (GRCm39) Y220C probably damaging Het
Actmap T C 7: 26,896,655 (GRCm39) S73P possibly damaging Het
Bmper G A 9: 23,286,902 (GRCm39) G276D possibly damaging Het
C2cd5 A T 6: 142,984,613 (GRCm39) M549K probably benign Het
Caprin1 A G 2: 103,606,283 (GRCm39) V319A possibly damaging Het
Cchcr1 G A 17: 35,839,285 (GRCm39) probably null Het
Cdc42bpb A T 12: 111,265,783 (GRCm39) V1383E possibly damaging Het
Cep350 T C 1: 155,770,433 (GRCm39) E1819G probably damaging Het
Ces4a A G 8: 105,869,054 (GRCm39) E163G possibly damaging Het
Chrnd C T 1: 87,118,792 (GRCm39) R50* probably null Het
Cntn3 A G 6: 102,183,511 (GRCm39) S715P probably damaging Het
Creb1 A T 1: 64,598,909 (GRCm39) R95S probably benign Het
Ctdp1 T C 18: 80,492,710 (GRCm39) Y595C probably damaging Het
Cts7 C T 13: 61,504,223 (GRCm39) E86K probably damaging Het
Dazap1 A G 10: 80,113,440 (GRCm39) N113S unknown Het
Dhdds T C 4: 133,727,706 (GRCm39) probably null Het
Dnaaf9 A G 2: 130,554,938 (GRCm39) S998P probably damaging Het
Dnah1 T C 14: 30,985,395 (GRCm39) D3832G probably damaging Het
Drd1 A G 13: 54,207,182 (GRCm39) L344P probably damaging Het
Fam135b G A 15: 71,324,199 (GRCm39) T1256I probably benign Het
Fam234a A T 17: 26,432,627 (GRCm39) D507E probably benign Het
Fbxw16 A T 9: 109,278,169 (GRCm39) I3N probably benign Het
Foxd4 A T 19: 24,877,670 (GRCm39) W177R probably damaging Het
Fyb2 A G 4: 104,802,961 (GRCm39) S288G probably benign Het
Gadl1 A G 9: 115,789,519 (GRCm39) H275R probably benign Het
Gbp5 A G 3: 142,206,366 (GRCm39) T17A probably benign Het
Gm1110 A T 9: 26,800,894 (GRCm39) Y433* probably null Het
Gm6408 C A 5: 146,420,628 (GRCm39) D169E probably benign Het
Gramd2b T A 18: 56,611,972 (GRCm39) V145E probably damaging Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Hcn1 GCA GCAACA 13: 118,112,305 (GRCm39) probably benign Het
Hif1an G A 19: 44,558,378 (GRCm39) V293M probably damaging Het
Hyal3 A G 9: 107,462,347 (GRCm39) D127G probably damaging Het
Ighg1 T A 12: 113,293,252 (GRCm39) D146V possibly damaging Het
Iws1 T A 18: 32,216,347 (GRCm39) D362E probably damaging Het
Kif21b G A 1: 136,080,961 (GRCm39) E601K probably damaging Het
Kndc1 C A 7: 139,500,620 (GRCm39) P662T possibly damaging Het
Krtap13-1 C T 16: 88,526,229 (GRCm39) T151I probably benign Het
Ndufa10 A T 1: 92,379,752 (GRCm39) I327N probably benign Het
Or10ag53 A G 2: 87,082,439 (GRCm39) I53V possibly damaging Het
Or10z1 A G 1: 174,077,902 (GRCm39) L197P probably damaging Het
Pcdhb14 T C 18: 37,582,040 (GRCm39) V382A probably benign Het
Pex1 A T 5: 3,685,876 (GRCm39) I1206F probably damaging Het
Pi4k2b T A 5: 52,918,331 (GRCm39) D386E probably benign Het
Pik3c2a A G 7: 115,945,427 (GRCm39) F1460L probably damaging Het
Plcb2 A C 2: 118,545,921 (GRCm39) M588R probably damaging Het
Prl7d1 C A 13: 27,893,260 (GRCm39) R216L possibly damaging Het
Psg28 G T 7: 18,156,887 (GRCm39) Y449* probably null Het
Psg28 T A 7: 18,164,602 (GRCm39) T37S probably benign Het
Rfc1 T C 5: 65,459,391 (GRCm39) D189G probably benign Het
Rnf207 A G 4: 152,397,666 (GRCm39) S363P probably benign Het
Sco1 T A 11: 66,949,250 (GRCm39) D239E probably damaging Het
Sec24d C T 3: 123,136,803 (GRCm39) T512M probably damaging Het
Shkbp1 T C 7: 27,046,442 (GRCm39) K441E probably benign Het
Slc44a5 A T 3: 153,959,322 (GRCm39) I338F probably damaging Het
Slc4a3 A T 1: 75,534,319 (GRCm39) I1161F probably damaging Het
Spmip11 T A 15: 98,483,264 (GRCm39) L65I probably damaging Het
Tnfsf9 T A 17: 57,414,355 (GRCm39) L261M probably damaging Het
Trim55 C T 3: 19,699,498 (GRCm39) R77C probably damaging Het
Vmn2r27 A G 6: 124,168,637 (GRCm39) I831T possibly damaging Het
Vwa3b A G 1: 37,081,438 (GRCm39) I60V probably benign Het
Vwf A G 6: 125,603,230 (GRCm39) N860S Het
Zfp54 T A 17: 21,654,149 (GRCm39) N214K probably benign Het
Zfp707 T C 15: 75,845,418 (GRCm39) I94T 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
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
Predicted Primers PCR Primer
(F):5'- AAGACATCACTGTGTGGTCC -3'
(R):5'- TAAAGCCATCGACATGCAACTCTG -3'

Sequencing Primer
(F):5'- GTGGTCCTCGTTTCTTTCATCATGAG -3'
(R):5'- AACTCTGCCATCCACCCTG -3'
Posted On 2022-11-14