Incidental Mutation 'IGL01898:Psma3'
ID 179450
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psma3
Ensembl Gene ENSMUSG00000060073
Gene Name proteasome subunit alpha 3
Synonyms Lmpc8
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # IGL01898
Quality Score
Status
Chromosome 12
Chromosomal Location 71021395-71043121 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71031448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 36 (H36Q)
Ref Sequence ENSEMBL: ENSMUSP00000124894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071704] [ENSMUST00000160027] [ENSMUST00000160864] [ENSMUST00000162626] [ENSMUST00000162851]
AlphaFold O70435
Predicted Effect probably benign
Transcript: ENSMUST00000071704
Predicted Effect probably benign
Transcript: ENSMUST00000160027
AA Change: H111Q

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000125548
Gene: ENSMUSG00000060073
AA Change: H111Q

DomainStartEndE-ValueType
Proteasome_A_N 8 30 9.72e-9 SMART
Pfam:Proteasome 31 217 6.2e-53 PFAM
low complexity region 241 253 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160683
Predicted Effect probably benign
Transcript: ENSMUST00000160864
AA Change: H36Q

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000124894
Gene: ENSMUSG00000060073
AA Change: H36Q

DomainStartEndE-ValueType
Pfam:Proteasome 1 142 1.7e-38 PFAM
low complexity region 166 178 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161041
Predicted Effect probably benign
Transcript: ENSMUST00000162626
Predicted Effect probably benign
Transcript: ENSMUST00000162851
SMART Domains Protein: ENSMUSP00000124082
Gene: ENSMUSG00000060073

DomainStartEndE-ValueType
Proteasome_A_N 8 30 9.72e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163035
Predicted Effect probably benign
Transcript: ENSMUST00000162898
SMART Domains Protein: ENSMUSP00000125490
Gene: ENSMUSG00000060073

DomainStartEndE-ValueType
Pfam:Proteasome 1 53 3.3e-12 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. Two alternative transcripts encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl10 A T 2: 154,394,633 (GRCm39) D195V probably damaging Het
Aqp11 A G 7: 97,375,870 (GRCm39) W260R probably benign Het
Atp8a2 T C 14: 60,260,962 (GRCm39) T390A probably damaging Het
Atp8b4 T C 2: 126,231,281 (GRCm39) N431S probably benign Het
Ccdc110 T G 8: 46,395,161 (GRCm39) S351A possibly damaging Het
Cntnap4 T C 8: 113,582,939 (GRCm39) F1006L possibly damaging Het
Ddr2 A G 1: 169,825,725 (GRCm39) F292L possibly damaging Het
F830104G03Rik G A 3: 56,797,637 (GRCm39) Q97* probably null Het
Fam171a2 T C 11: 102,330,582 (GRCm39) T267A possibly damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Igkv5-43 T A 6: 69,752,876 (GRCm39) K69* probably null Het
Mios T C 6: 8,222,668 (GRCm39) I534T probably benign Het
Nus1 A G 10: 52,306,163 (GRCm39) D185G probably benign Het
Proc A G 18: 32,266,198 (GRCm39) probably null Het
Sh3rf3 G T 10: 58,885,352 (GRCm39) A412S probably damaging Het
Smgc A T 15: 91,728,727 (GRCm39) probably null Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Spta1 T A 1: 174,041,428 (GRCm39) S1297R probably benign Het
Steap3 T C 1: 120,169,304 (GRCm39) D293G probably benign Het
Tbx18 A T 9: 87,589,912 (GRCm39) M342K possibly damaging Het
Trip11 T C 12: 101,851,935 (GRCm39) M425V probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Other mutations in Psma3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0316:Psma3 UTSW 12 71,030,163 (GRCm39) missense probably benign 0.01
R0669:Psma3 UTSW 12 71,035,269 (GRCm39) splice site probably benign
R1933:Psma3 UTSW 12 71,031,468 (GRCm39) missense probably benign 0.22
R2288:Psma3 UTSW 12 71,041,145 (GRCm39) missense possibly damaging 0.70
R3745:Psma3 UTSW 12 71,025,522 (GRCm39) missense possibly damaging 0.86
R4479:Psma3 UTSW 12 71,031,555 (GRCm39) unclassified probably benign
R5260:Psma3 UTSW 12 71,031,416 (GRCm39) unclassified probably benign
R5384:Psma3 UTSW 12 71,021,539 (GRCm39) missense probably damaging 1.00
R5457:Psma3 UTSW 12 71,031,339 (GRCm39) missense probably benign
R5794:Psma3 UTSW 12 71,037,271 (GRCm39) missense probably benign 0.00
R8348:Psma3 UTSW 12 71,035,250 (GRCm39) missense probably damaging 1.00
R8448:Psma3 UTSW 12 71,035,250 (GRCm39) missense probably damaging 1.00
R8814:Psma3 UTSW 12 71,025,580 (GRCm39) missense probably benign 0.17
R9275:Psma3 UTSW 12 71,041,156 (GRCm39) missense probably benign 0.04
R9278:Psma3 UTSW 12 71,041,156 (GRCm39) missense probably benign 0.04
Posted On 2014-05-07