Incidental Mutation 'R4479:Psma3'
ID 331408
Institutional Source Beutler Lab
Gene Symbol Psma3
Ensembl Gene ENSMUSG00000060073
Gene Name proteasome (prosome, macropain) subunit, alpha type 3
Synonyms Lmpc8
MMRRC Submission 041736-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # R4479 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 70974621-70996347 bp(+) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 70984781 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000125548
Gene: ENSMUSG00000060073

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
SMART Domains Protein: ENSMUSP00000124894
Gene: ENSMUSG00000060073

DomainStartEndE-ValueType
Pfam:Proteasome 1 142 1.7e-38 PFAM
low complexity region 166 178 N/A INTRINSIC
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 probably benign
Transcript: ENSMUST00000162898
SMART Domains Protein: ENSMUSP00000125490
Gene: ENSMUSG00000060073

DomainStartEndE-ValueType
Pfam:Proteasome 1 53 3.3e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163035
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 95% (36/38)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 46,005,239 (GRCm38) T553A possibly damaging Het
Adamts20 C T 15: 94,403,445 (GRCm38) R66H probably damaging Het
Anks1b A G 10: 90,049,892 (GRCm38) E150G probably damaging Het
Chp2 A G 7: 122,220,918 (GRCm38) D97G probably benign Het
Cnbd2 T C 2: 156,333,653 (GRCm38) probably benign Het
D130040H23Rik C A 8: 69,302,503 (GRCm38) H187N possibly damaging Het
Dusp15 A G 2: 152,944,182 (GRCm38) L135P probably damaging Het
Eif4g1 G T 16: 20,678,843 (GRCm38) probably benign Het
Erlin2 G T 8: 27,025,099 (GRCm38) V10L probably benign Het
F830104G03Rik A G 3: 56,890,213 (GRCm38) S98P unknown Het
Fat3 G A 9: 15,998,271 (GRCm38) S2145F probably damaging Het
Gm3159 T C 14: 4,398,584 (GRCm38) Y92H probably damaging Het
Ighv1-22 G T 12: 114,746,663 (GRCm38) A15E possibly damaging Het
Ints4 T C 7: 97,484,971 (GRCm38) S37P probably damaging Het
Irs1 G A 1: 82,287,294 (GRCm38) T1067I probably damaging Het
Lrrc28 C T 7: 67,531,614 (GRCm38) probably null Het
Olfr1243 A G 2: 89,528,170 (GRCm38) I80T possibly damaging Het
Olfr1420 A G 19: 11,896,558 (GRCm38) Y179C probably damaging Het
Olfr206 G A 16: 59,344,867 (GRCm38) T278I probably damaging Het
Psg18 C T 7: 18,350,862 (GRCm38) S103N probably benign Het
Slc7a11 T C 3: 50,417,963 (GRCm38) probably benign Het
Tas2r115 T C 6: 132,737,532 (GRCm38) D152G probably damaging Het
Tti1 A T 2: 158,008,395 (GRCm38) L308Q possibly damaging Het
Unc93b1 G A 19: 3,935,236 (GRCm38) A15T probably benign Het
Usp43 G A 11: 67,856,407 (GRCm38) R820C possibly damaging Het
Vmn2r68 TCC TC 7: 85,221,550 (GRCm38) probably null Het
Vps8 A T 16: 21,545,236 (GRCm38) probably benign Het
Wdr73 T C 7: 80,893,221 (GRCm38) E213G probably benign Het
Zfp286 C G 11: 62,780,204 (GRCm38) G348R probably damaging Het
Zkscan5 T C 5: 145,211,174 (GRCm38) probably benign Het
Other mutations in Psma3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01898:Psma3 APN 12 70,984,674 (GRCm38) missense probably benign 0.17
R0316:Psma3 UTSW 12 70,983,389 (GRCm38) missense probably benign 0.01
R0669:Psma3 UTSW 12 70,988,495 (GRCm38) splice site probably benign
R1933:Psma3 UTSW 12 70,984,694 (GRCm38) missense probably benign 0.22
R2288:Psma3 UTSW 12 70,994,371 (GRCm38) missense possibly damaging 0.70
R3745:Psma3 UTSW 12 70,978,748 (GRCm38) missense possibly damaging 0.86
R5260:Psma3 UTSW 12 70,984,642 (GRCm38) unclassified probably benign
R5384:Psma3 UTSW 12 70,974,765 (GRCm38) missense probably damaging 1.00
R5457:Psma3 UTSW 12 70,984,565 (GRCm38) missense probably benign
R5794:Psma3 UTSW 12 70,990,497 (GRCm38) missense probably benign 0.00
R8348:Psma3 UTSW 12 70,988,476 (GRCm38) missense probably damaging 1.00
R8448:Psma3 UTSW 12 70,988,476 (GRCm38) missense probably damaging 1.00
R8814:Psma3 UTSW 12 70,978,806 (GRCm38) missense probably benign 0.17
R9275:Psma3 UTSW 12 70,994,382 (GRCm38) missense probably benign 0.04
R9278:Psma3 UTSW 12 70,994,382 (GRCm38) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TTTAGGTCCAACTTCGGCTATAAC -3'
(R):5'- CCTGGTGAGAAGCTGATCTG -3'

Sequencing Primer
(F):5'- AGGTCCAACTTCGGCTATAACATTCC -3'
(R):5'- CTGGTGAGAAGCTGATCTGGGAAC -3'
Posted On 2015-07-21