Incidental Mutation 'IGL03077:Psmd7'
ID 417729
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 # IGL03077
Quality Score
Status
Chromosome 8
Chromosomal Location 108307013-108315096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108309099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 149 (T149A)
Ref Sequence ENSEMBL: ENSMUSP00000041968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044106]
AlphaFold P26516
Predicted Effect probably benign
Transcript: ENSMUST00000044106
AA Change: T149A

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000041968
Gene: ENSMUSG00000039067
AA Change: T149A

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
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 A G 17: 84,999,308 (GRCm39) N135D probably damaging Het
Ak4 T C 4: 101,277,148 (GRCm39) L44P probably damaging Het
Angpt1 C A 15: 42,339,818 (GRCm39) G298* probably null Het
Appl2 C T 10: 83,457,623 (GRCm39) probably benign Het
Arhgap19 T A 19: 41,769,760 (GRCm39) H341L probably benign Het
Chmp5 T C 4: 40,952,438 (GRCm39) S98P probably benign Het
Chp1 A T 2: 119,415,081 (GRCm39) Q161L probably benign Het
Clgn T C 8: 84,150,769 (GRCm39) V478A probably benign Het
Cplane1 G A 15: 8,242,279 (GRCm39) probably benign Het
Cyp2b19 A T 7: 26,461,809 (GRCm39) M210L probably benign Het
Eif4g3 T A 4: 137,853,166 (GRCm39) V244D probably damaging Het
Ftcd T C 10: 76,417,461 (GRCm39) I300T probably damaging Het
Gm12886 C T 4: 121,272,697 (GRCm39) probably benign Het
Klrb1f A T 6: 129,030,765 (GRCm39) E92V probably null Het
Krt23 A G 11: 99,374,700 (GRCm39) probably benign Het
Mib2 T G 4: 155,743,900 (GRCm39) R47S probably benign Het
Mindy4 A G 6: 55,286,315 (GRCm39) T728A probably damaging Het
Myh15 A G 16: 48,916,901 (GRCm39) N407S probably benign Het
Nlrp4f A G 13: 65,342,412 (GRCm39) V411A probably benign Het
Or10ag56 T C 2: 87,140,056 (GRCm39) *328Q probably null Het
Or4c12b A C 2: 89,647,486 (GRCm39) D266A probably damaging Het
Otud4 T G 8: 80,400,087 (GRCm39) S934A probably damaging Het
P3h1 C T 4: 119,093,983 (GRCm39) R213W probably damaging Het
Phrf1 A T 7: 140,834,881 (GRCm39) K19* probably null Het
Prl3b1 A T 13: 27,429,759 (GRCm39) M66L probably benign Het
Samd4b T C 7: 28,105,868 (GRCm39) D450G probably damaging Het
Scn3a G A 2: 65,367,016 (GRCm39) A2V probably damaging Het
Snrpa G A 7: 26,891,186 (GRCm39) T95I probably benign Het
Traip A G 9: 107,840,125 (GRCm39) probably benign Het
Trbc1 T A 6: 41,515,383 (GRCm39) probably benign Het
Trim72 A T 7: 127,607,013 (GRCm39) M181L probably benign Het
Ttc41 T C 10: 86,594,212 (GRCm39) Y882H probably damaging Het
Vmn1r191 A C 13: 22,363,316 (GRCm39) I146S probably benign Het
Vmn2r9 G T 5: 108,996,173 (GRCm39) probably benign Het
Vps13a A G 19: 16,688,246 (GRCm39) S854P probably benign Het
Wdfy1 T C 1: 79,692,622 (GRCm39) K232E possibly damaging Het
Xpr1 A T 1: 155,156,774 (GRCm39) D625E possibly damaging Het
Zbbx T A 3: 74,989,153 (GRCm39) T317S possibly damaging Het
Other mutations in Psmd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Psmd7 APN 8 108,312,342 (GRCm39) missense probably damaging 1.00
IGL01296:Psmd7 APN 8 108,313,249 (GRCm39) splice site probably benign
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 2016-08-02