Incidental Mutation 'R6956:Psmd3'
ID 541470
Institutional Source Beutler Lab
Gene Symbol Psmd3
Ensembl Gene ENSMUSG00000017221
Gene Name proteasome (prosome, macropain) 26S subunit, non-ATPase, 3
Synonyms Tstap91a, AntP91a, Psd3
MMRRC Submission 045067-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R6956 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 98573380-98586804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98586377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 515 (L515Q)
Ref Sequence ENSEMBL: ENSMUSP00000017365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017365]
AlphaFold P14685
Predicted Effect probably damaging
Transcript: ENSMUST00000017365
AA Change: L515Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017365
Gene: ENSMUSG00000017221
AA Change: L515Q

low complexity region 14 31 N/A INTRINSIC
low complexity region 37 51 N/A INTRINSIC
PAM 217 389 1.07e-68 SMART
PINT 389 479 3.26e-27 SMART
coiled coil region 495 527 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123676
SMART Domains Protein: ENSMUSP00000116968
Gene: ENSMUSG00000017221

PAM 2 198 2.1e-62 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency 100% (43/43)
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. This gene encodes a member of the proteasome subunit S3 family that functions as one of the non-ATPase subunits of the 19S regulator lid. Single nucleotide polymorphisms in this gene are associated with neutrophil count. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 G A 8: 111,781,762 (GRCm39) V945M probably benign Het
Amotl2 A G 9: 102,601,967 (GRCm39) T371A probably damaging Het
Bmpr1a A G 14: 34,163,132 (GRCm39) I86T possibly damaging Het
C9 A T 15: 6,474,945 (GRCm39) M35L probably benign Het
Cc2d1a G T 8: 84,862,528 (GRCm39) P661T probably damaging Het
Ccdc202 T A 14: 96,119,869 (GRCm39) W209R probably damaging Het
Dcdc2a T A 13: 25,303,349 (GRCm39) S293R probably benign Het
Dchs2 T A 3: 83,261,233 (GRCm39) N2500K probably benign Het
Dicer1 A G 12: 104,697,282 (GRCm39) S92P probably damaging Het
Dnah7a T A 1: 53,616,446 (GRCm39) I1172F probably benign Het
Dnajc6 A G 4: 101,471,470 (GRCm39) S364G probably damaging Het
Dpp6 A T 5: 27,803,819 (GRCm39) N255I probably damaging Het
Eif2ak4 T C 2: 118,252,748 (GRCm39) I440T probably damaging Het
Fam184b T C 5: 45,688,099 (GRCm39) T937A probably damaging Het
Fam229b T A 10: 39,009,843 (GRCm39) probably null Het
Gbp11 A G 5: 105,476,241 (GRCm39) probably null Het
Gipc2 A G 3: 151,799,885 (GRCm39) F282L probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
H2-T3 T A 17: 36,500,263 (GRCm39) Y144F probably damaging Het
Kel T G 6: 41,664,907 (GRCm39) D7A probably damaging Het
Lrrc7 A G 3: 157,994,668 (GRCm39) V166A probably benign Het
Mapt T C 11: 104,209,081 (GRCm39) probably null Het
Marchf3 A G 18: 56,909,053 (GRCm39) V244A probably benign Het
Mboat1 T C 13: 30,422,059 (GRCm39) V396A possibly damaging Het
Mphosph9 T C 5: 124,435,621 (GRCm39) D604G probably damaging Het
Muc16 T C 9: 18,556,322 (GRCm39) T3324A unknown Het
Nalf1 T A 8: 9,820,744 (GRCm39) Q92L probably benign Het
Nat10 T C 2: 103,564,757 (GRCm39) I495V probably benign Het
Or6c208 A T 10: 129,224,166 (GRCm39) K221N probably benign Het
Pfkfb2 T C 1: 130,635,337 (GRCm39) N75D probably damaging Het
Rpgrip1l A C 8: 92,012,941 (GRCm39) probably null Het
Scube1 T C 15: 83,606,077 (GRCm39) Y65C probably damaging Het
Slc12a4 A G 8: 106,680,484 (GRCm39) F211L probably damaging Het
Socs7 T C 11: 97,267,849 (GRCm39) S327P probably benign Het
Spef2 A T 15: 9,685,021 (GRCm39) D591E probably damaging Het
Sult2a6 T A 7: 13,988,748 (GRCm39) D4V possibly damaging Het
Tdpoz8 T C 3: 92,981,279 (GRCm39) V25A possibly damaging Het
Tdrd9 A G 12: 112,002,788 (GRCm39) probably benign Het
Tgm4 G T 9: 122,893,768 (GRCm39) M155I possibly damaging Het
Togaram2 T C 17: 72,036,183 (GRCm39) V891A probably benign Het
Usp1 A G 4: 98,819,243 (GRCm39) E235G probably damaging Het
Usp2 T A 9: 44,004,053 (GRCm39) V533E probably damaging Het
Vcan T A 13: 89,837,550 (GRCm39) I2665F probably damaging Het
Vmn2r31 G A 7: 7,397,505 (GRCm39) S251L probably benign Het
Vmn2r84 C A 10: 130,225,136 (GRCm39) C458F probably damaging Het
Other mutations in Psmd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00957:Psmd3 APN 11 98,576,394 (GRCm39) missense probably benign 0.06
IGL01353:Psmd3 APN 11 98,581,426 (GRCm39) missense probably benign 0.05
R1368:Psmd3 UTSW 11 98,573,746 (GRCm39) missense probably damaging 1.00
R1563:Psmd3 UTSW 11 98,585,051 (GRCm39) missense probably damaging 1.00
R2258:Psmd3 UTSW 11 98,581,790 (GRCm39) missense probably benign 0.18
R2259:Psmd3 UTSW 11 98,581,790 (GRCm39) missense probably benign 0.18
R3606:Psmd3 UTSW 11 98,581,780 (GRCm39) missense probably damaging 1.00
R3607:Psmd3 UTSW 11 98,581,780 (GRCm39) missense probably damaging 1.00
R4616:Psmd3 UTSW 11 98,573,752 (GRCm39) missense probably benign 0.00
R4833:Psmd3 UTSW 11 98,578,586 (GRCm39) missense probably damaging 1.00
R5033:Psmd3 UTSW 11 98,573,650 (GRCm39) missense probably damaging 1.00
R5585:Psmd3 UTSW 11 98,573,707 (GRCm39) missense possibly damaging 0.45
R5687:Psmd3 UTSW 11 98,584,495 (GRCm39) missense probably damaging 1.00
R5929:Psmd3 UTSW 11 98,586,422 (GRCm39) missense probably damaging 1.00
R6028:Psmd3 UTSW 11 98,576,491 (GRCm39) missense probably damaging 0.99
R6240:Psmd3 UTSW 11 98,584,479 (GRCm39) missense probably damaging 0.98
R6449:Psmd3 UTSW 11 98,576,466 (GRCm39) missense probably benign
R7009:Psmd3 UTSW 11 98,573,592 (GRCm39) missense probably benign 0.04
R7051:Psmd3 UTSW 11 98,573,659 (GRCm39) missense possibly damaging 0.68
R7401:Psmd3 UTSW 11 98,576,466 (GRCm39) missense probably benign
R7449:Psmd3 UTSW 11 98,586,377 (GRCm39) missense probably damaging 1.00
R7549:Psmd3 UTSW 11 98,581,787 (GRCm39) missense probably benign 0.38
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-11-28