Incidental Mutation 'IGL01919:Psma6'
ID 180060
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psma6
Ensembl Gene ENSMUSG00000021024
Gene Name proteasome subunit alpha 6
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # IGL01919
Quality Score
Status
Chromosome 12
Chromosomal Location 55431007-55465239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55454254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 26 (E26G)
Ref Sequence ENSEMBL: ENSMUSP00000021412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021412] [ENSMUST00000162711] [ENSMUST00000163070]
AlphaFold Q9QUM9
PDB Structure Mouse constitutive 20S proteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse constitutive 20S proteasome [X-RAY DIFFRACTION]
Mouse 20S immunoproteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse 20S immunoproteasome [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000021412
AA Change: E26G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021412
Gene: ENSMUSG00000021024
AA Change: E26G

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: K7R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124781
Gene: ENSMUSG00000021024
AA Change: K7R

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,608,580 (GRCm39) probably null Het
Alms1 T C 6: 85,604,986 (GRCm39) F2212S possibly damaging Het
Anpep T C 7: 79,475,098 (GRCm39) I155V possibly damaging Het
Aoc1 G A 6: 48,885,223 (GRCm39) V653M probably damaging Het
Arl8b T C 6: 108,798,518 (GRCm39) probably benign Het
Bax A C 7: 45,115,552 (GRCm39) probably null Het
Cpne7 G A 8: 123,852,382 (GRCm39) E195K probably damaging Het
Csmd3 A G 15: 47,539,168 (GRCm39) I2330T possibly damaging Het
Dnajc16 A G 4: 141,501,940 (GRCm39) S297P probably benign Het
Farp2 A G 1: 93,504,155 (GRCm39) K311E probably damaging Het
Fhad1 A G 4: 141,691,906 (GRCm39) L410P probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm12185 T C 11: 48,798,886 (GRCm39) T536A possibly damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hydin C T 8: 111,245,806 (GRCm39) T2173I possibly damaging Het
Kpnb1 A G 11: 97,055,556 (GRCm39) V783A probably benign Het
Krt1 A G 15: 101,754,811 (GRCm39) V509A unknown Het
Lrwd1 A T 5: 136,164,729 (GRCm39) L26* probably null Het
Mal2 T A 15: 54,451,728 (GRCm39) W50R probably damaging Het
Map3k21 A T 8: 126,668,871 (GRCm39) E819V probably damaging Het
Mrgprx3-ps T C 7: 46,959,959 (GRCm39) T11A probably benign Het
Mroh2b T C 15: 4,953,170 (GRCm39) F635L probably benign Het
Mylip G A 13: 45,562,178 (GRCm39) E327K probably damaging Het
Nfix T C 8: 85,453,103 (GRCm39) D308G probably damaging Het
Or1l8 G A 2: 36,817,824 (GRCm39) Q101* probably null Het
Or7e166 G A 9: 19,624,638 (GRCm39) V172I probably benign Het
Rgs16 T A 1: 153,617,804 (GRCm39) S105T probably damaging Het
Slc25a23 T A 17: 57,354,291 (GRCm39) N372Y possibly damaging Het
Slc35e2 A G 4: 155,697,187 (GRCm39) M234V probably benign Het
Tbc1d8 A G 1: 39,431,334 (GRCm39) V346A probably damaging Het
Tgfb1i1 C T 7: 127,847,654 (GRCm39) probably benign Het
Triml2 A C 8: 43,643,349 (GRCm39) T177P probably damaging Het
Uba6 T C 5: 86,267,245 (GRCm39) T959A probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Other mutations in Psma6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02658:Psma6 APN 12 55,458,996 (GRCm39) missense probably benign 0.07
IGL02991:Psma6 APN 12 55,454,357 (GRCm39) splice site probably benign
R0761:Psma6 UTSW 12 55,459,127 (GRCm39) missense possibly damaging 0.87
R1758:Psma6 UTSW 12 55,454,317 (GRCm39) missense probably damaging 0.99
R2103:Psma6 UTSW 12 55,454,842 (GRCm39) missense probably benign 0.23
R2897:Psma6 UTSW 12 55,454,829 (GRCm39) missense probably benign 0.00
R5333:Psma6 UTSW 12 55,454,213 (GRCm39) intron probably benign
R5782:Psma6 UTSW 12 55,457,041 (GRCm39) missense possibly damaging 0.68
R7432:Psma6 UTSW 12 55,445,613 (GRCm39) intron probably benign
R8302:Psma6 UTSW 12 55,456,966 (GRCm39) missense probably benign 0.01
Posted On 2014-05-07