Incidental Mutation 'IGL00234:Psmd7'
ID 2301
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmd7
Ensembl Gene ENSMUSG00000039067
Gene Name proteasome (prosome, macropain) 26S subunit, non-ATPase, 7
Synonyms Mov-34, Mov34
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00234
Quality Score
Status
Chromosome 8
Chromosomal Location 108307013-108315096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108312342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 85 (V85A)
Ref Sequence ENSEMBL: ENSMUSP00000041968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044106]
AlphaFold P26516
Predicted Effect probably damaging
Transcript: ENSMUST00000044106
AA Change: V85A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041968
Gene: ENSMUSG00000039067
AA Change: V85A

DomainStartEndE-ValueType
JAB_MPN 8 143 3.43e-44 SMART
Pfam:MitMem_reg 166 277 2e-39 PFAM
coiled coil region 285 321 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213080
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. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice carrying a proviral insertion at this locus develop normally to the blastocyst stage but die shortly after implantation before reaching the egg cylinder stage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl4 T C 17: 34,000,242 (GRCm39) N42S probably damaging Het
Apoc4 A T 7: 19,412,665 (GRCm39) S27T probably benign Het
Atp13a3 T A 16: 30,170,097 (GRCm39) Q363L probably damaging Het
Cfap69 A G 5: 5,667,295 (GRCm39) Y417H probably benign Het
Cry1 A G 10: 84,982,698 (GRCm39) S243P probably benign Het
Epb41l2 A G 10: 25,377,734 (GRCm39) T116A probably damaging Het
Foxb1 A G 9: 69,667,480 (GRCm39) S17P probably damaging Het
Glb1l3 A T 9: 26,764,967 (GRCm39) L148H probably damaging Het
Hnrnpk T C 13: 58,543,111 (GRCm39) probably benign Het
Icam5 G A 9: 20,948,091 (GRCm39) probably null Het
Lats1 A G 10: 7,567,330 (GRCm39) I34V probably damaging Het
Lipc A T 9: 70,727,719 (GRCm39) Y43N possibly damaging Het
Maml3 A G 3: 51,598,125 (GRCm39) I207T probably benign Het
Nfatc2 A T 2: 168,346,810 (GRCm39) S761R probably damaging Het
Nubp1 G A 16: 10,240,703 (GRCm39) G280S probably damaging Het
Or4d2 T G 11: 87,784,191 (GRCm39) R186S possibly damaging Het
Pabpc4 A G 4: 123,180,497 (GRCm39) N73S probably damaging Het
Pcsk6 G A 7: 65,577,568 (GRCm39) C163Y probably damaging Het
Phf3 G A 1: 30,850,928 (GRCm39) T1142M probably damaging Het
Prune2 T A 19: 17,145,708 (GRCm39) probably null Het
Rc3h2 A G 2: 37,279,759 (GRCm39) V490A possibly damaging Het
Sh3tc1 A C 5: 35,868,301 (GRCm39) S388A probably damaging Het
Trank1 T C 9: 111,221,677 (GRCm39) F2805L probably damaging Het
Yars2 T C 16: 16,121,185 (GRCm39) L113P probably damaging Het
Zfp82 G A 7: 29,765,755 (GRCm39) S16L probably damaging Het
Other mutations in Psmd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01296:Psmd7 APN 8 108,313,249 (GRCm39) splice site probably benign
IGL03077:Psmd7 APN 8 108,309,099 (GRCm39) missense probably benign 0.44
R0348:Psmd7 UTSW 8 108,307,523 (GRCm39) missense unknown
R1460:Psmd7 UTSW 8 108,307,691 (GRCm39) missense possibly damaging 0.59
R1715:Psmd7 UTSW 8 108,307,817 (GRCm39) missense probably benign 0.05
R1857:Psmd7 UTSW 8 108,311,525 (GRCm39) missense probably damaging 1.00
R7718:Psmd7 UTSW 8 108,313,261 (GRCm39) missense possibly damaging 0.95
R7780:Psmd7 UTSW 8 108,307,920 (GRCm39) missense possibly damaging 0.46
R8794:Psmd7 UTSW 8 108,310,831 (GRCm39) missense probably damaging 1.00
Posted On 2011-12-09