Incidental Mutation 'IGL02658:Psma6'
ID302451
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psma6
Ensembl Gene ENSMUSG00000021024
Gene Nameproteasome (prosome, macropain) subunit, alpha type 6
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.947) question?
Stock #IGL02658
Quality Score
Status
Chromosome12
Chromosomal Location55384222-55418454 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55412211 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 126 (E126G)
Ref Sequence ENSEMBL: ENSMUSP00000124781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021412] [ENSMUST00000162711] [ENSMUST00000163070]
Predicted Effect probably benign
Transcript: ENSMUST00000021412
AA Change: E145G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000021412
Gene: ENSMUSG00000021024
AA Change: E145G

DomainStartEndE-ValueType
Proteasome_A_N 9 31 3.21e-9 SMART
Pfam:Proteasome 32 220 3.1e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162711
SMART Domains Protein: ENSMUSP00000123914
Gene: ENSMUSG00000021024

DomainStartEndE-ValueType
Pfam:Proteasome_A_N 9 25 4.1e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162972
Predicted Effect probably benign
Transcript: ENSMUST00000163070
AA Change: E126G

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000124781
Gene: ENSMUSG00000021024
AA Change: E126G

DomainStartEndE-ValueType
Pfam:Proteasome 13 201 1.5e-56 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure 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. 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 member of the peptidase T1A family, that is a 20S core alpha subunit. Multiple transcript variants encoding several different isoforms have been found for this gene. A pseudogene has been identified on the Y chromosome. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,952,560 Y946F probably benign Het
Abcb4 T G 5: 8,934,240 W657G probably benign Het
Adcy1 T C 11: 7,138,279 probably benign Het
Arap3 A G 18: 37,990,994 V351A probably benign Het
Bpifb9b A C 2: 154,311,281 Y89S probably benign Het
Carns1 C T 19: 4,173,084 C47Y probably benign Het
Chd5 C T 4: 152,360,593 H344Y probably damaging Het
Ctnna2 T C 6: 76,980,824 T481A probably benign Het
Cyth1 T A 11: 118,182,246 D264V probably damaging Het
Dph1 C A 11: 75,180,635 L311F probably benign Het
Eif3l A G 15: 79,076,942 D65G probably damaging Het
Gtf2a1l T A 17: 88,668,718 F3Y probably benign Het
Hcn4 A T 9: 58,859,465 T770S unknown Het
Hydin A T 8: 110,413,276 I726F possibly damaging Het
Klf2 A G 8: 72,319,096 I7V probably benign Het
Ltn1 A T 16: 87,415,774 L633H probably damaging Het
Ncoa3 A G 2: 166,051,393 D206G probably benign Het
Nlrp4a T G 7: 26,449,713 D248E probably benign Het
Nyap1 A G 5: 137,735,484 I429T probably damaging Het
Olfr1370 G A 13: 21,072,812 T163I probably damaging Het
Olfr285 A G 15: 98,313,356 S65P probably damaging Het
Olfr338 T A 2: 36,377,060 C95S probably damaging Het
Olfr578 A G 7: 102,984,330 M278T probably benign Het
Olfr720 T A 14: 14,175,732 M117L possibly damaging Het
Pcf11 T C 7: 92,647,046 E1322G probably damaging Het
Plcxd2 A T 16: 45,972,326 F217I probably benign Het
Plxna4 A T 6: 32,185,411 I1389N probably damaging Het
Ppp1r15a T C 7: 45,524,667 Y239C probably benign Het
R3hcc1l T A 19: 42,562,702 V46E probably damaging Het
Rap1gds1 G T 3: 138,957,479 H320N probably damaging Het
Sdhaf3 A G 6: 7,038,992 M105V probably damaging Het
Slc22a26 T A 19: 7,788,248 N345I probably benign Het
Sncaip T C 18: 52,894,955 I412T possibly damaging Het
Sorcs1 A T 19: 50,190,092 I864N probably damaging Het
Spag5 C T 11: 78,321,331 Q1062* probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Szrd1 A G 4: 141,139,746 probably benign Het
Tns2 C A 15: 102,107,796 probably benign Het
Trcg1 C A 9: 57,242,228 S361* probably null Het
Tshz3 T C 7: 36,769,158 F191L probably damaging Het
Ttc39a T C 4: 109,422,893 V124A probably damaging Het
Ttf1 T C 2: 29,074,011 I633T probably damaging Het
Zfp691 A G 4: 119,170,507 F176S probably damaging Het
Other mutations in Psma6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01919:Psma6 APN 12 55407469 missense probably damaging 1.00
IGL02991:Psma6 APN 12 55407572 splice site probably benign
R0761:Psma6 UTSW 12 55412342 missense possibly damaging 0.87
R1758:Psma6 UTSW 12 55407532 missense probably damaging 0.99
R2103:Psma6 UTSW 12 55408057 missense probably benign 0.23
R2897:Psma6 UTSW 12 55408044 missense probably benign 0.00
R5333:Psma6 UTSW 12 55407428 intron probably benign
R5782:Psma6 UTSW 12 55410256 missense possibly damaging 0.68
R7432:Psma6 UTSW 12 55398828 intron probably benign
R8302:Psma6 UTSW 12 55410181 missense probably benign 0.01
Posted On2015-04-16