Incidental Mutation 'IGL02947:Psmd9'
ID 364811
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmd9
Ensembl Gene ENSMUSG00000029440
Gene Name proteasome (prosome, macropain) 26S subunit, non-ATPase, 9
Synonyms P27, Bridge-1, 1500011J20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # IGL02947
Quality Score
Status
Chromosome 5
Chromosomal Location 123366253-123388189 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123384278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 145 (I145V)
Ref Sequence ENSEMBL: ENSMUSP00000143635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100729] [ENSMUST00000197809] [ENSMUST00000198183]
AlphaFold Q9CR00
Predicted Effect probably benign
Transcript: ENSMUST00000100729
AA Change: I192V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000098295
Gene: ENSMUSG00000029440
AA Change: I192V

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 benign
Transcript: ENSMUST00000197809
AA Change: I145V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000143635
Gene: ENSMUSG00000029440
AA Change: I145V

DomainStartEndE-ValueType
PDB:3WHL|H 1 53 9e-8 PDB
PDZ 75 148 1.5e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198183
SMART Domains Protein: ENSMUSP00000142433
Gene: ENSMUSG00000029440

DomainStartEndE-ValueType
Blast:PDZ 1 45 6e-16 BLAST
Coding Region Coverage
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,049,957 (GRCm39) V13A probably benign Het
Atp8b5 T A 4: 43,305,774 (GRCm39) I106K possibly damaging Het
Cdh15 T C 8: 123,592,111 (GRCm39) S633P probably benign Het
Celsr3 A G 9: 108,723,134 (GRCm39) T228A probably benign Het
Cfap90 T A 13: 68,759,312 (GRCm39) F95L probably benign Het
Chrng A G 1: 87,137,606 (GRCm39) probably null Het
Coprs T C 8: 13,935,782 (GRCm39) E79G probably damaging Het
Cpb2 A C 14: 75,520,758 (GRCm39) Y391S probably damaging Het
Cyp2j8 A T 4: 96,358,815 (GRCm39) I368N probably damaging Het
Ddah1 T C 3: 145,464,842 (GRCm39) F76L probably benign Het
Eif2ak4 A G 2: 118,261,514 (GRCm39) T573A probably benign Het
Exoc6b T A 6: 84,835,411 (GRCm39) M375L probably benign Het
Fasn T C 11: 120,706,502 (GRCm39) E994G probably damaging Het
Fem1a T A 17: 56,565,640 (GRCm39) C578S probably benign Het
Garnl3 A G 2: 32,936,606 (GRCm39) S188P probably damaging Het
Gpn3 T C 5: 122,516,551 (GRCm39) V60A possibly damaging Het
Hnrnpr A G 4: 136,043,690 (GRCm39) D59G probably damaging Het
Hydin A T 8: 111,145,094 (GRCm39) E815V probably damaging Het
Itga9 C T 9: 118,487,601 (GRCm39) T228M probably damaging Het
Kpna7 T C 5: 144,930,884 (GRCm39) I320M probably damaging Het
Lnpep T C 17: 17,791,234 (GRCm39) T437A probably damaging Het
Ltf C T 9: 110,868,015 (GRCm39) T48I probably benign Het
Masp1 T G 16: 23,313,476 (GRCm39) D153A probably damaging Het
Mcpt9 T A 14: 56,264,373 (GRCm39) R241* probably null Het
Msantd4 T A 9: 4,384,787 (GRCm39) S171T probably damaging Het
Nos1 G A 5: 118,081,382 (GRCm39) V1229M probably damaging Het
Npc1l1 A G 11: 6,179,246 (GRCm39) S55P probably benign Het
Oc90 T C 15: 65,759,983 (GRCm39) K212R probably benign Het
Or2a12 A G 6: 42,904,830 (GRCm39) I222V probably benign Het
Or5t15 C T 2: 86,681,130 (GRCm39) R304K probably benign Het
Or6c202 C A 10: 128,996,439 (GRCm39) C138F probably damaging Het
Prr12 T A 7: 44,697,980 (GRCm39) Q645L unknown Het
Rbks T C 5: 31,817,407 (GRCm39) I121V probably benign Het
Rnase2b A T 14: 51,400,264 (GRCm39) Y115F probably damaging Het
Sarnp A G 10: 128,675,723 (GRCm39) E78G probably benign Het
Sltm A G 9: 70,498,946 (GRCm39) S1007G probably benign Het
Spata31d1c T A 13: 65,182,759 (GRCm39) Y100* probably null Het
Srrm2 T C 17: 24,029,720 (GRCm39) S222P probably benign Het
Sult3a1 G A 10: 33,740,046 (GRCm39) R35Q possibly damaging Het
Tfap4 T C 16: 4,369,224 (GRCm39) D132G probably damaging Het
Tmem53 C T 4: 117,125,285 (GRCm39) Q111* probably null Het
Togaram1 T A 12: 65,068,274 (GRCm39) V1709D probably damaging Het
Trpm3 A T 19: 22,878,483 (GRCm39) D628V probably damaging Het
Ttn T A 2: 76,544,838 (GRCm39) K31009* probably null Het
Vldlr A G 19: 27,217,120 (GRCm39) I58V probably benign Het
Vmn1r4 T C 6: 56,934,231 (GRCm39) F245S probably benign Het
Vrtn T A 12: 84,695,258 (GRCm39) S3T probably damaging Het
Vwa7 A G 17: 35,242,476 (GRCm39) probably null Het
Wrnip1 T A 13: 33,006,053 (GRCm39) Y632N 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
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
R9758:Psmd9 UTSW 5 123,372,745 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18