Incidental Mutation 'R5333:Psma6'
ID 423365
Institutional Source Beutler Lab
Gene Symbol Psma6
Ensembl Gene ENSMUSG00000021024
Gene Name proteasome subunit alpha 6
Synonyms
MMRRC Submission 042915-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # R5333 (G1)
Quality Score 222
Status Validated
Chromosome 12
Chromosomal Location 55431007-55465239 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 55454213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021412] [ENSMUST00000162711] [ENSMUST00000163070]
AlphaFold Q9QUM9
Predicted Effect probably benign
Transcript: ENSMUST00000021412
SMART Domains Protein: ENSMUSP00000021412
Gene: ENSMUSG00000021024

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
SMART Domains Protein: ENSMUSP00000124781
Gene: ENSMUSG00000021024

DomainStartEndE-ValueType
Pfam:Proteasome 13 201 1.5e-56 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 97% (56/58)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Abca14 T A 7: 119,888,769 (GRCm39) Y1238* probably null Het
Abcb5 A T 12: 118,831,677 (GRCm39) V1225D probably damaging Het
Arhgef15 A G 11: 68,838,022 (GRCm39) probably benign Het
As3mt A G 19: 46,696,635 (GRCm39) R58G probably null Het
Asap1 T G 15: 63,999,263 (GRCm39) N525T possibly damaging Het
Bhmt2 A G 13: 93,807,938 (GRCm39) V50A probably benign Het
Bpnt2 A C 4: 4,767,963 (GRCm39) V271G possibly damaging Het
Ccdc180 A T 4: 45,890,935 (GRCm39) I36F possibly damaging Het
Cd209c A G 8: 3,994,976 (GRCm39) S63P probably damaging Het
Cdc37 T C 9: 21,054,457 (GRCm39) E56G possibly damaging Het
Cdkal1 T C 13: 29,510,135 (GRCm39) Y541C probably benign Het
Cenph G T 13: 100,898,280 (GRCm39) H208N probably benign Het
Cfap65 A T 1: 74,942,334 (GRCm39) L1740Q probably benign Het
Cfap74 A G 4: 155,521,197 (GRCm39) D623G probably damaging Het
Ckap4 C A 10: 84,363,474 (GRCm39) V530L probably damaging Het
Cldn13 A T 5: 134,943,869 (GRCm39) N105K probably benign Het
Ddn T C 15: 98,703,237 (GRCm39) D685G possibly damaging Het
Fdxr T C 11: 115,163,084 (GRCm39) I70V probably benign Het
Fn1 A T 1: 71,663,339 (GRCm39) Y1050N probably damaging Het
Iqcf3 A G 9: 106,430,860 (GRCm39) I96T possibly damaging Het
Itgax A G 7: 127,741,455 (GRCm39) Y822C probably damaging Het
Katnb1 A T 8: 95,822,234 (GRCm39) I286L possibly damaging Het
Lrp2 A C 2: 69,355,572 (GRCm39) I424R probably benign Het
Lrpprc C A 17: 85,097,821 (GRCm39) A41S probably benign Het
Mast3 A G 8: 71,236,145 (GRCm39) L761P probably benign Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Mpp4 C A 1: 59,196,600 (GRCm39) R44L probably benign Het
Nalf1 T A 8: 9,820,762 (GRCm39) Q86L possibly damaging Het
Nkain3 T A 4: 20,484,889 (GRCm39) M63L probably benign Het
Nup88 A C 11: 70,835,842 (GRCm39) probably benign Het
Obscn A T 11: 58,953,518 (GRCm39) C3837S probably damaging Het
Ogdh T G 11: 6,302,126 (GRCm39) L850V probably damaging Het
Or4f17-ps1 A G 2: 111,358,048 (GRCm39) I148V probably benign Het
Or5w11 A G 2: 87,459,458 (GRCm39) Y217C probably damaging Het
Panx2 T C 15: 88,952,742 (GRCm39) I411T possibly damaging Het
Papss1 T A 3: 131,348,805 (GRCm39) M585K probably damaging Het
Pcbp2 T G 15: 102,394,456 (GRCm39) L180R possibly damaging Het
Pcdha7 A T 18: 37,107,619 (GRCm39) T215S probably benign Het
Pcdhga4 C T 18: 37,818,477 (GRCm39) R9C probably benign Het
Plin4 A G 17: 56,411,970 (GRCm39) V687A probably benign Het
Potefam1 A T 2: 111,024,682 (GRCm39) Y61N possibly damaging Het
Rcn1 A T 2: 105,219,471 (GRCm39) S241T probably benign Het
Scgb2b18 A T 7: 32,872,700 (GRCm39) L35H probably damaging Het
Slc11a1 A C 1: 74,423,304 (GRCm39) D385A probably damaging Het
Stk31 T A 6: 49,446,086 (GRCm39) C930S probably benign Het
Syt10 T A 15: 89,725,932 (GRCm39) Q14L probably benign Het
Tnxb T G 17: 34,909,205 (GRCm39) W1578G probably damaging Het
Triml1 C T 8: 43,583,327 (GRCm39) A425T possibly damaging Het
Vil1 G A 1: 74,471,549 (GRCm39) V777I probably benign Het
Vmn1r175 T C 7: 23,508,004 (GRCm39) I208V possibly damaging Het
Other mutations in Psma6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01919:Psma6 APN 12 55,454,254 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AAAATTATCCCACCTTAGCCAGA -3'
(R):5'- TTTGATTTTGCAGCCATTGACTG -3'

Sequencing Primer
(F):5'- GAGCTACATAATGAGATCCTGGCTC -3'
(R):5'- ACTGGCTGGGCAGTATTACTTAC -3'
Posted On 2016-08-04