Incidental Mutation 'R8903:Psme1'
ID 678333
Institutional Source Beutler Lab
Gene Symbol Psme1
Ensembl Gene ENSMUSG00000022216
Gene Name proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)
Synonyms PA28a
MMRRC Submission 068760-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8903 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 55815951-55818984 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55817853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 120 (E120G)
Ref Sequence ENSEMBL: ENSMUSP00000134735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022826] [ENSMUST00000022828] [ENSMUST00000089619] [ENSMUST00000172738] [ENSMUST00000174259] [ENSMUST00000174484] [ENSMUST00000174563]
AlphaFold P97371
Predicted Effect probably benign
Transcript: ENSMUST00000022826
SMART Domains Protein: ENSMUSP00000022826
Gene: ENSMUSG00000022215

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
transmembrane domain 58 80 N/A INTRINSIC
transmembrane domain 95 114 N/A INTRINSIC
low complexity region 127 141 N/A INTRINSIC
transmembrane domain 189 211 N/A INTRINSIC
transmembrane domain 221 243 N/A INTRINSIC
transmembrane domain 250 272 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000022828
SMART Domains Protein: ENSMUSP00000022828
Gene: ENSMUSG00000022217

DomainStartEndE-ValueType
Pfam:UPF0172 3 191 1.9e-59 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000089619
AA Change: E120G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087046
Gene: ENSMUSG00000022216
AA Change: E120G

DomainStartEndE-ValueType
Pfam:PA28_alpha 6 69 4.1e-29 PFAM
low complexity region 70 98 N/A INTRINSIC
Pfam:PA28_beta 100 236 2.4e-59 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172738
AA Change: E120G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133867
Gene: ENSMUSG00000022216
AA Change: E120G

DomainStartEndE-ValueType
Pfam:PA28_alpha 6 69 3.8e-29 PFAM
low complexity region 70 98 N/A INTRINSIC
Pfam:PA28_beta 129 226 3.2e-43 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000134735
Gene: ENSMUSG00000022216
AA Change: E120G

DomainStartEndE-ValueType
Pfam:PA28_alpha 8 68 6e-27 PFAM
low complexity region 70 98 N/A INTRINSIC
Pfam:PA28_beta 103 247 9.5e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174352
SMART Domains Protein: ENSMUSP00000133463
Gene: ENSMUSG00000022217

DomainStartEndE-ValueType
Pfam:UPF0172 1 43 6.3e-11 PFAM
Pfam:UPF0172 41 82 1.2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174419
Predicted Effect probably damaging
Transcript: ENSMUST00000174484
AA Change: E120G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133883
Gene: ENSMUSG00000022216
AA Change: E120G

DomainStartEndE-ValueType
Pfam:PA28_alpha 6 69 4.4e-29 PFAM
low complexity region 70 98 N/A INTRINSIC
Pfam:PA28_beta 100 238 7.7e-67 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174563
AA Change: E109G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133366
Gene: ENSMUSG00000022216
AA Change: E109G

DomainStartEndE-ValueType
Pfam:PA28_alpha 6 58 7.5e-18 PFAM
low complexity region 59 87 N/A INTRINSIC
Pfam:PA28_beta 89 173 5.4e-37 PFAM
Meta Mutation Damage Score 0.6332 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 97% (74/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core 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. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase 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. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the alpha subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three alpha and three beta subunits combine to form a heterohexameric ring. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,815,526 (GRCm39) F258S probably damaging Het
Abca3 A G 17: 24,602,959 (GRCm39) Y518C probably damaging Het
Ank2 A T 3: 126,840,431 (GRCm39) N274K probably damaging Het
Ankrd31 C T 13: 96,969,329 (GRCm39) L989F probably damaging Het
Ano6 A G 15: 95,825,463 (GRCm39) R354G probably benign Het
Ano8 T C 8: 71,934,834 (GRCm39) probably null Het
Arfgef1 T C 1: 10,211,838 (GRCm39) Y1735C probably damaging Het
B3gnt8 G A 7: 25,328,659 (GRCm39) G363D probably benign Het
Calcrl T C 2: 84,203,729 (GRCm39) probably null Het
Cc2d2b A T 19: 40,797,726 (GRCm39) D782V unknown Het
Ccdc162 A G 10: 41,531,440 (GRCm39) probably null Het
Cdkal1 A T 13: 29,809,918 (GRCm39) *219R probably null Het
Clcnkb A T 4: 141,135,160 (GRCm39) V526D possibly damaging Het
Cnbp A T 6: 87,821,074 (GRCm39) C162S probably damaging Het
Coq2 A G 5: 100,811,656 (GRCm39) probably benign Het
D6Wsu163e T A 6: 126,931,778 (GRCm39) L270Q probably damaging Het
Dennd10 C T 19: 60,823,423 (GRCm39) Q353* probably null Het
Dnhd1 C T 7: 105,362,855 (GRCm39) Q3806* probably null Het
Eepd1 T C 9: 25,394,518 (GRCm39) F261L probably benign Het
Fes C T 7: 80,036,559 (GRCm39) probably benign Het
Fsip2 T A 2: 82,807,681 (GRCm39) D1333E possibly damaging Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gm5113 T C 7: 29,878,292 (GRCm39) F127L probably benign Het
Grk3 A G 5: 113,066,697 (GRCm39) S596P possibly damaging Het
Gsk3a A G 7: 24,936,814 (GRCm39) V91A possibly damaging Het
Gss T C 2: 155,420,279 (GRCm39) K141E probably damaging Het
Il1rl2 A T 1: 40,366,530 (GRCm39) probably null Het
Kcnmb1 A G 11: 33,914,825 (GRCm39) Y42C probably damaging Het
Krtap16-1 A T 11: 99,877,170 (GRCm39) I78N probably damaging Het
Lrp2 C T 2: 69,379,382 (GRCm39) S110N possibly damaging Het
Lrrfip1 T A 1: 91,012,781 (GRCm39) probably benign Het
Magel2 G T 7: 62,029,441 (GRCm39) A782S unknown Het
Map1b C A 13: 99,569,017 (GRCm39) E1235* probably null Het
Mcpt1 A C 14: 56,257,520 (GRCm39) H222P probably benign Het
Met T A 6: 17,549,137 (GRCm39) N996K probably benign Het
Mia C A 7: 26,880,230 (GRCm39) Q52H probably damaging Het
Mia T A 7: 26,880,231 (GRCm39) Q52L possibly damaging Het
Myh7 T A 14: 55,230,228 (GRCm39) K35* probably null Het
Myt1l T A 12: 29,861,468 (GRCm39) D83E unknown Het
Nbl1 A G 4: 138,810,861 (GRCm39) V111A probably damaging Het
Nid1 T A 13: 13,638,515 (GRCm39) V145D probably benign Het
Nif3l1 C T 1: 58,486,653 (GRCm39) probably benign Het
Npnt T C 3: 132,591,764 (GRCm39) Y500C probably damaging Het
Nubpl T A 12: 52,144,676 (GRCm39) probably null Het
Nxpe4 T A 9: 48,310,250 (GRCm39) D504E probably damaging Het
Obsl1 A G 1: 75,463,917 (GRCm39) V1696A possibly damaging Het
Or56a3 A T 7: 104,735,329 (GRCm39) R135S possibly damaging Het
Or8s2 A T 15: 98,276,475 (GRCm39) I172N probably damaging Het
P2rx1 A T 11: 72,900,821 (GRCm39) H224L probably benign Het
Pald1 A T 10: 61,182,815 (GRCm39) probably null Het
Pard6g C T 18: 80,160,411 (GRCm39) R175* probably null Het
Pisd A G 5: 32,895,755 (GRCm39) I271T probably benign Het
Prrt3 T C 6: 113,472,796 (GRCm39) S459G probably damaging Het
Psd3 A T 8: 68,165,945 (GRCm39) C328S unknown Het
Pum3 A T 19: 27,397,457 (GRCm39) M306K possibly damaging Het
Pxdn T C 12: 30,040,992 (GRCm39) F423L probably benign Het
Rac3 A G 11: 120,614,071 (GRCm39) D118G probably damaging Het
Rnf14 A G 18: 38,446,267 (GRCm39) K357E probably benign Het
Rpl23a T C 11: 78,073,720 (GRCm39) I40V probably benign Het
Slc5a5 A T 8: 71,345,227 (GRCm39) S27T probably damaging Het
Slc7a14 A T 3: 31,277,595 (GRCm39) L670Q probably damaging Het
Snorc C T 1: 87,402,826 (GRCm39) T52I probably damaging Het
Sst T A 16: 23,708,499 (GRCm39) K111* probably null Het
Stxbp4 A G 11: 90,426,267 (GRCm39) S514P unknown Het
Susd1 T A 4: 59,390,576 (GRCm39) T300S probably benign Het
Tecpr1 C T 5: 144,150,845 (GRCm39) probably benign Het
Tmem185b C T 1: 119,454,198 (GRCm39) probably benign Het
Tor2a T A 2: 32,651,699 (GRCm39) F305I probably damaging Het
Ttk T A 9: 83,750,113 (GRCm39) D689E probably damaging Het
Tut4 A T 4: 108,336,408 (GRCm39) D44V probably damaging Het
Usp25 A G 16: 76,878,421 (GRCm39) D615G probably damaging Het
Vmn1r209 A G 13: 22,990,684 (GRCm39) V2A probably benign Het
Vmn2r80 A C 10: 79,017,928 (GRCm39) E551A probably damaging Het
Wac G T 18: 7,926,104 (GRCm39) E636* probably null Het
Wdr53 T A 16: 32,071,130 (GRCm39) D158E probably damaging Het
Zbtb7c T C 18: 76,270,152 (GRCm39) V80A probably damaging Het
Other mutations in Psme1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02532:Psme1 APN 14 55,818,595 (GRCm39) nonsense probably null
IGL02867:Psme1 APN 14 55,817,383 (GRCm39) splice site probably benign
IGL02889:Psme1 APN 14 55,817,383 (GRCm39) splice site probably benign
IGL03257:Psme1 APN 14 55,818,086 (GRCm39) missense probably damaging 1.00
R0491:Psme1 UTSW 14 55,817,378 (GRCm39) splice site probably benign
R1078:Psme1 UTSW 14 55,818,107 (GRCm39) missense probably damaging 1.00
R1597:Psme1 UTSW 14 55,818,222 (GRCm39) missense probably damaging 1.00
R7620:Psme1 UTSW 14 55,817,797 (GRCm39) nonsense probably null
R8050:Psme1 UTSW 14 55,817,056 (GRCm39) missense possibly damaging 0.86
R9022:Psme1 UTSW 14 55,817,271 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGAGCATCAGCCTCAGTC -3'
(R):5'- GAGCAAAGAACGCGTCTTGG -3'

Sequencing Primer
(F):5'- GAGCATCAGCCTCAGTCCTGTC -3'
(R):5'- CAAAGAACGCGTCTTGGCTTTATC -3'
Posted On 2021-08-02