Incidental Mutation 'R4568:Psmg3'
ID 341938
Institutional Source Beutler Lab
Gene Symbol Psmg3
Ensembl Gene ENSMUSG00000029551
Gene Name proteasome (prosome, macropain) assembly chaperone 3
Synonyms 4930403H09Rik, 1810042K04Rik
MMRRC Submission 041792-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.890) question?
Stock # R4568 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 139809368-139812649 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139812004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 32 (I32T)
Ref Sequence ENSEMBL: ENSMUSP00000138120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031531] [ENSMUST00000182602] [ENSMUST00000182839]
AlphaFold Q9CZH3
Predicted Effect probably benign
Transcript: ENSMUST00000031531
AA Change: I32T

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031531
Gene: ENSMUSG00000029551
AA Change: I32T

DomainStartEndE-ValueType
Pfam:PAC3 34 119 1.9e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182602
AA Change: I32T

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000138161
Gene: ENSMUSG00000029551
AA Change: I32T

DomainStartEndE-ValueType
Pfam:DUF2372 34 121 2.5e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182743
Predicted Effect probably damaging
Transcript: ENSMUST00000182839
AA Change: I32T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138120
Gene: ENSMUSG00000098140
AA Change: I32T

DomainStartEndE-ValueType
Pfam:DUF2372 34 82 2e-14 PFAM
low complexity region 94 102 N/A INTRINSIC
Pfam:Solute_trans_a 127 226 3.5e-36 PFAM
Meta Mutation Damage Score 0.6579 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 T A 7: 119,162,740 (GRCm39) W5R probably benign Het
Bik T C 15: 83,425,645 (GRCm39) probably null Het
Col6a1 A T 10: 76,555,031 (GRCm39) probably benign Het
Crem A G 18: 3,299,175 (GRCm39) I83T probably damaging Het
Csn1s1 G A 5: 87,828,763 (GRCm39) V276I possibly damaging Het
Ctnna3 C T 10: 63,688,588 (GRCm39) T344M possibly damaging Het
Dgcr8 G A 16: 18,098,258 (GRCm39) P378S probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Gpr139 C T 7: 118,744,028 (GRCm39) V186M probably damaging Het
Krba1 A G 6: 48,386,657 (GRCm39) T422A probably damaging Het
Lgals8 T G 13: 12,468,254 (GRCm39) Y125S probably damaging Het
Map4k1 G A 7: 28,686,079 (GRCm39) G107D probably damaging Het
Mfsd6 A T 1: 52,702,448 (GRCm39) Y599* probably null Het
Omt2b T A 9: 78,235,529 (GRCm39) probably benign Het
Or1d2 A G 11: 74,256,035 (GRCm39) E180G probably damaging Het
Or9s15 A T 1: 92,525,113 (GRCm39) M291L probably benign Het
Pga5 A G 19: 10,649,216 (GRCm39) Y235H probably damaging Het
Phldb2 T A 16: 45,598,081 (GRCm39) K869* probably null Het
Pik3cb T C 9: 98,972,355 (GRCm39) M268V probably benign Het
Pla2g4a T C 1: 149,717,977 (GRCm39) D624G probably benign Het
Plxna4 T A 6: 32,129,873 (GRCm39) I1817F probably damaging Het
Ptpn4 T C 1: 119,607,789 (GRCm39) E757G probably damaging Het
Rasl2-9 AGG A 7: 5,128,374 (GRCm39) probably null Het
Ripply3 T A 16: 94,136,688 (GRCm39) D116E probably damaging Het
Robo4 T C 9: 37,316,118 (GRCm39) V263A possibly damaging Het
Slc5a9 C A 4: 111,748,941 (GRCm39) probably null Het
Spef2 T C 15: 9,647,303 (GRCm39) H1008R probably damaging Het
Stag1 T C 9: 100,730,722 (GRCm39) V379A probably damaging Het
Tasor A T 14: 27,198,658 (GRCm39) probably null Het
Tbc1d9 A G 8: 83,997,806 (GRCm39) E1121G probably benign Het
Tpr T C 1: 150,268,710 (GRCm39) probably benign Het
Trpv6 G T 6: 41,603,503 (GRCm39) P206H probably damaging Het
Vmn2r63 T C 7: 42,583,250 (GRCm39) probably null Het
Vmn2r65 C T 7: 84,596,677 (GRCm39) C126Y probably damaging Het
Other mutations in Psmg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2084:Psmg3 UTSW 5 139,809,744 (GRCm39) missense probably benign 0.01
R4033:Psmg3 UTSW 5 139,812,086 (GRCm39) missense probably damaging 1.00
R4723:Psmg3 UTSW 5 139,812,125 (GRCm39) utr 5 prime probably benign
R8128:Psmg3 UTSW 5 139,809,788 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCACTGCGCATAGTTTGGG -3'
(R):5'- CTCCAGGTTGTGTCCGATTCTG -3'

Sequencing Primer
(F):5'- ACGTATGGAGTTGTGCCTATCAG -3'
(R):5'- GTGTCCGATTCTGATTGCTCC -3'
Posted On 2015-09-24