Incidental Mutation 'R6357:Psma1'
ID 512378
Institutional Source Beutler Lab
Gene Symbol Psma1
Ensembl Gene ENSMUSG00000030751
Gene Name proteasome subunit alpha 1
Synonyms C2, Pros-30, HC2
Accession Numbers
Essential gene? Possibly essential (E-score: 0.680) question?
Stock # R6357 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 113863841-113875353 bp(-) (GRCm39)
Type of Mutation splice site (49 bp from exon)
DNA Base Change (assembly) T to C at 113873602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033008] [ENSMUST00000135570]
AlphaFold Q9R1P4
Predicted Effect probably null
Transcript: ENSMUST00000033008
SMART Domains Protein: ENSMUSP00000033008
Gene: ENSMUSG00000030751

DomainStartEndE-ValueType
Proteasome_A_N 6 28 6.32e-8 SMART
Pfam:Proteasome 29 215 3.2e-54 PFAM
low complexity region 243 262 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123801
Predicted Effect probably null
Transcript: ENSMUST00000135570
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210966
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 97.8%
  • 20x: 92.8%
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. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 T C 17: 57,184,591 (GRCm39) probably null Het
Aoc1l2 A G 6: 48,907,908 (GRCm39) M303V probably benign Het
Armh4 A T 14: 50,010,769 (GRCm39) S313T probably benign Het
Calcr T C 6: 3,714,710 (GRCm39) D140G probably benign Het
Card10 T C 15: 78,683,579 (GRCm39) E188G probably damaging Het
Cenpq T C 17: 41,235,418 (GRCm39) E193G probably damaging Het
Cep164 G A 9: 45,682,182 (GRCm39) L1874F probably damaging Het
Dennd3 T C 15: 73,428,321 (GRCm39) M889T possibly damaging Het
Dnah9 T C 11: 65,765,022 (GRCm39) K3841E probably damaging Het
Dynlt2b T G 16: 32,247,873 (GRCm39) probably null Het
Eci2 A G 13: 35,177,082 (GRCm39) V26A possibly damaging Het
Eftud2 A T 11: 102,755,606 (GRCm39) N200K probably damaging Het
Eml5 T A 12: 98,837,143 (GRCm39) H357L probably damaging Het
Esam T C 9: 37,449,076 (GRCm39) *395R probably null Het
Galt C T 4: 41,757,565 (GRCm39) P246S probably benign Het
Gjb3 A T 4: 127,220,423 (GRCm39) Y36* probably null Het
Gli2 T C 1: 118,769,689 (GRCm39) E621G probably damaging Het
Gls T C 1: 52,258,665 (GRCm39) D201G probably damaging Het
Gm10801 C CGTCA 2: 98,494,152 (GRCm39) probably null Het
Gm1110 T C 9: 26,825,424 (GRCm39) probably null Het
Gm5565 T A 5: 146,097,283 (GRCm39) H13L possibly damaging Het
Hydin A C 8: 111,268,289 (GRCm39) T2923P possibly damaging Het
Kank1 A T 19: 25,388,717 (GRCm39) I797L probably benign Het
Klhdc8a A T 1: 132,230,891 (GRCm39) Q252L probably damaging Het
Kmt5c T C 7: 4,745,204 (GRCm39) F65S possibly damaging Het
Lix1 C T 17: 17,666,255 (GRCm39) P138L probably benign Het
Lnpep T C 17: 17,773,176 (GRCm39) N664S probably benign Het
Msh6 T A 17: 88,291,888 (GRCm39) Y214* probably null Het
Nefl A G 14: 68,321,767 (GRCm39) E119G probably damaging Het
Nptxr C A 15: 79,678,516 (GRCm39) R257L possibly damaging Het
Or4k15c C A 14: 50,321,446 (GRCm39) A231S probably damaging Het
Or7e173 T A 9: 19,938,925 (GRCm39) Q103L probably damaging Het
Oxct2b A G 4: 123,010,709 (GRCm39) I210V probably benign Het
Plppr3 T A 10: 79,701,240 (GRCm39) Q534L probably benign Het
Rbp3 G A 14: 33,678,991 (GRCm39) A980T probably damaging Het
Ripply2 T A 9: 86,898,331 (GRCm39) S58R possibly damaging Het
Robo1 T C 16: 72,767,190 (GRCm39) V454A probably benign Het
Sacs A G 14: 61,446,273 (GRCm39) D2773G possibly damaging Het
Sirpb1b A T 3: 15,568,243 (GRCm39) V366E possibly damaging Het
Slc5a7 T C 17: 54,594,389 (GRCm39) I197M probably benign Het
Spata31f1a T A 4: 42,850,393 (GRCm39) I588F probably damaging Het
Spmap2 T C 10: 79,422,789 (GRCm39) S38G probably benign Het
Srgap2 T C 1: 131,283,280 (GRCm39) Y267C probably damaging Het
Ssc4d T C 5: 135,994,950 (GRCm39) T189A probably benign Het
Tas2r106 A G 6: 131,654,925 (GRCm39) *309Q probably null Het
Vmn2r44 T C 7: 8,373,657 (GRCm39) M511V probably benign Het
Wdfy4 G T 14: 32,823,006 (GRCm39) Y1364* probably null Het
Zbtb8a T C 4: 129,248,092 (GRCm39) H393R probably benign Het
Other mutations in Psma1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03001:Psma1 APN 7 113,865,674 (GRCm39) missense probably benign 0.01
tempt UTSW 7 113,873,683 (GRCm39) missense probably damaging 1.00
R0046:Psma1 UTSW 7 113,866,440 (GRCm39) splice site probably benign
R0046:Psma1 UTSW 7 113,866,440 (GRCm39) splice site probably benign
R2062:Psma1 UTSW 7 113,869,001 (GRCm39) missense possibly damaging 0.95
R2217:Psma1 UTSW 7 113,864,173 (GRCm39) missense unknown
R4633:Psma1 UTSW 7 113,870,369 (GRCm39) missense probably damaging 1.00
R5585:Psma1 UTSW 7 113,873,302 (GRCm39) missense probably damaging 1.00
R7137:Psma1 UTSW 7 113,873,683 (GRCm39) missense probably damaging 1.00
R7592:Psma1 UTSW 7 113,868,961 (GRCm39) missense probably benign
R8432:Psma1 UTSW 7 113,873,080 (GRCm39) missense probably damaging 1.00
R9049:Psma1 UTSW 7 113,865,764 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CAGCCTATAATCTCACAAGCTTTG -3'
(R):5'- TGCATTGCAAACTGAGTGCTG -3'

Sequencing Primer
(F):5'- CCTATAATCTCACAAGCTTTGTTTCC -3'
(R):5'- TGTCTCAAGAAAGCTGCACTAG -3'
Posted On 2018-04-27