Incidental Mutation 'R9588:Psma4'
ID 722895
Institutional Source Beutler Lab
Gene Symbol Psma4
Ensembl Gene ENSMUSG00000032301
Gene Name proteasome subunit alpha 4
Synonyms C9
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R9588 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 54858074-54865314 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54862245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 123 (Q123L)
Ref Sequence ENSEMBL: ENSMUSP00000034848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034848] [ENSMUST00000054018] [ENSMUST00000171900] [ENSMUST00000172407]
AlphaFold Q9R1P0
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: ENSMUST00000034848
AA Change: Q123L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034848
Gene: ENSMUSG00000032301
AA Change: Q123L

DomainStartEndE-ValueType
Proteasome_A_N 5 27 1.6e-9 SMART
Pfam:Proteasome 28 216 1.5e-57 PFAM
low complexity region 238 261 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000054018
SMART Domains Protein: ENSMUSP00000049861
Gene: ENSMUSG00000044820

DomainStartEndE-ValueType
low complexity region 14 36 N/A INTRINSIC
transmembrane domain 105 127 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171900
AA Change: Q123L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132368
Gene: ENSMUSG00000032301
AA Change: Q123L

DomainStartEndE-ValueType
Proteasome_A_N 5 27 1.6e-9 SMART
Pfam:Proteasome 28 139 1.2e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172407
AA Change: Q123L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126844
Gene: ENSMUSG00000032301
AA Change: Q123L

DomainStartEndE-ValueType
Proteasome_A_N 5 27 1.6e-9 SMART
Pfam:Proteasome 28 210 3.2e-56 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a core alpha subunit of the 20S proteosome, which is a highly ordered ring-shaped structure composed of four rings of 28 non-identical subunits. Proteasomes cleave peptides in an ATP- and ubiquitin-dependent manner. [provided by RefSeq, Aug 2016]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr5 T C 2: 158,468,328 (GRCm39) F153L possibly damaging Het
Ano3 T C 2: 110,528,342 (GRCm39) K491E possibly damaging Het
Arhgap21 C A 2: 20,858,938 (GRCm39) C1252F possibly damaging Het
Bcat1 T C 6: 144,950,126 (GRCm39) N424S probably benign Het
Ccdc61 A G 7: 18,644,266 (GRCm39) probably benign Het
Cecr2 T C 6: 120,733,770 (GRCm39) S586P possibly damaging Het
Chd3 A G 11: 69,241,046 (GRCm39) C1516R probably damaging Het
Cops5 C A 1: 10,108,222 (GRCm39) R5L unknown Het
Cpne2 C A 8: 95,286,781 (GRCm39) P369Q possibly damaging Het
Cyp3a25 G T 5: 145,921,699 (GRCm39) Q412K probably benign Het
Dbn1 A G 13: 55,622,785 (GRCm39) V612A probably benign Het
Dnah17 T C 11: 118,012,783 (GRCm39) D426G probably benign Het
Dolpp1 T A 2: 30,282,515 (GRCm39) Y23N probably damaging Het
Egf T C 3: 129,511,617 (GRCm39) M517V probably benign Het
Fbxw27 ATGT AT 9: 109,602,322 (GRCm39) probably null Het
Foxc1 A T 13: 31,992,587 (GRCm39) H466L unknown Het
Hsf2bp A G 17: 32,241,810 (GRCm39) L78P probably damaging Het
Ikbkb G A 8: 23,151,410 (GRCm39) A738V unknown Het
Itgb8 G T 12: 119,140,754 (GRCm39) N374K probably benign Het
Kif16b T A 2: 142,553,804 (GRCm39) Q998L possibly damaging Het
Krtap11-1 A C 16: 89,368,062 (GRCm39) probably benign Het
Lamp3 T A 16: 19,494,832 (GRCm39) probably null Het
Lrrc43 A T 5: 123,641,307 (GRCm39) H497L probably damaging Het
Mmp1a C T 9: 7,467,225 (GRCm39) T267I probably benign Het
Mroh2b T A 15: 4,978,130 (GRCm39) D1299E probably benign Het
Ndst4 A C 3: 125,476,808 (GRCm39) H11P probably damaging Het
Oas1c A G 5: 120,946,202 (GRCm39) F99L probably benign Het
Or10s1 T C 9: 39,986,353 (GRCm39) L254P probably damaging Het
Or14c39 T A 7: 86,343,948 (GRCm39) C95S probably damaging Het
Or1j11 G T 2: 36,311,784 (GRCm39) A125S probably damaging Het
Or5w15 G A 2: 87,568,644 (GRCm39) T8I probably benign Het
Pcdhga3 A G 18: 37,808,564 (GRCm39) D339G probably damaging Het
Pcsk1 A T 13: 75,259,039 (GRCm39) N271I probably damaging Het
Pdilt A T 7: 119,100,870 (GRCm39) D160E probably benign Het
Selenbp2 A T 3: 94,605,368 (GRCm39) I127F possibly damaging Het
Setd5 A G 6: 113,121,025 (GRCm39) N1078S probably damaging Het
Sorl1 A C 9: 41,993,105 (GRCm39) Y306* probably null Het
Spata17 T C 1: 186,849,471 (GRCm39) K255E possibly damaging Het
Surf4 C A 2: 26,823,622 (GRCm39) probably benign Het
Tbc1d16 G T 11: 119,101,335 (GRCm39) H58Q probably damaging Het
Tfdp2 A G 9: 96,169,663 (GRCm39) T5A probably damaging Het
Thsd7b T G 1: 130,108,223 (GRCm39) C1313G probably damaging Het
Trmt44 A T 5: 35,727,256 (GRCm39) C320S probably damaging Het
Unc119b G A 5: 115,272,827 (GRCm39) T48M probably benign Het
Vit T A 17: 78,930,079 (GRCm39) I348N probably damaging Het
Vmn1r184 T A 7: 25,966,347 (GRCm39) M31K probably null Het
Vmn2r81 A G 10: 79,129,205 (GRCm39) T699A possibly damaging Het
Xrn1 A G 9: 95,920,756 (GRCm39) T1339A probably benign Het
Zfp827 T A 8: 79,905,604 (GRCm39) H860Q probably damaging Het
Other mutations in Psma4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5020:Psma4 UTSW 9 54,860,056 (GRCm39) missense probably damaging 1.00
R7422:Psma4 UTSW 9 54,862,166 (GRCm39) missense probably benign 0.11
R9544:Psma4 UTSW 9 54,862,245 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCAGCATGTCTCCAAGGAAAGC -3'
(R):5'- GCTACACAAAGAAACCCTGTCTTG -3'

Sequencing Primer
(F):5'- GCATGTCTCCAAGGAAAGCTTTTTC -3'
(R):5'- ACAAAGAAACCCTGTCTTGATAAAG -3'
Posted On 2022-08-09