Incidental Mutation 'R5585:Psmd3'
ID 438668
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 043139-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R5585 (G1)
Quality Score 127
Status Not validated
Chromosome 11
Chromosomal Location 98573380-98586804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 98573707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 51 (G51D)
Ref Sequence ENSEMBL: ENSMUSP00000017365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017365]
AlphaFold P14685
Predicted Effect possibly damaging
Transcript: ENSMUST00000017365
AA Change: G51D

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000017365
Gene: ENSMUSG00000017221
AA Change: G51D

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000122854
Predicted Effect probably benign
Transcript: ENSMUST00000123676
SMART Domains Protein: ENSMUSP00000116968
Gene: ENSMUSG00000017221

DomainStartEndE-ValueType
PAM 2 198 2.1e-62 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149489
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152102
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C23Rik A T 17: 46,044,670 (GRCm39) I17N unknown Het
4932414N04Rik A G 2: 68,571,770 (GRCm39) T549A probably benign Het
9330159F19Rik C A 10: 29,101,271 (GRCm39) S548Y possibly damaging Het
Aanat A G 11: 116,487,799 (GRCm39) Y166C probably damaging Het
Adra2a G T 19: 54,034,670 (GRCm39) A9S probably benign Het
Ap4m1 A G 5: 138,170,502 (GRCm39) Y17C probably damaging Het
Arhgap33 T G 7: 30,223,260 (GRCm39) M891L probably benign Het
Calm5 A G 13: 3,904,372 (GRCm39) D22G possibly damaging Het
Ccdc15 C T 9: 37,188,699 (GRCm39) R795H probably benign Het
Cngb1 T A 8: 95,989,767 (GRCm39) I323F probably damaging Het
Cyp26b1 A G 6: 84,554,171 (GRCm39) F74L probably damaging Het
Dpagt1 G A 9: 44,240,439 (GRCm39) probably null Het
Ercc8 C T 13: 108,312,123 (GRCm39) P196S probably damaging Het
Gm10985 A C 3: 53,752,674 (GRCm39) Y19S probably damaging Het
Hfm1 G A 5: 107,059,305 (GRCm39) S239L probably benign Het
Hgf A G 5: 16,769,799 (GRCm39) D91G possibly damaging Het
Lefty2 T A 1: 180,720,828 (GRCm39) V27D possibly damaging Het
Lrp2 G A 2: 69,294,968 (GRCm39) T3450I possibly damaging Het
Lrrc38 A G 4: 143,076,961 (GRCm39) I75V probably damaging Het
Ncor2 C A 5: 125,144,975 (GRCm39) E556* probably null Het
Nedd9 A G 13: 41,469,950 (GRCm39) L401P probably damaging Het
Nfatc4 T C 14: 56,064,212 (GRCm39) L163P probably damaging Het
Nln T C 13: 104,161,569 (GRCm39) N667S possibly damaging Het
Or5w20 A G 2: 87,727,019 (GRCm39) T159A possibly damaging Het
Pnpla8 T C 12: 44,329,847 (GRCm39) I133T probably benign Het
Psma1 C T 7: 113,873,302 (GRCm39) G12S probably damaging Het
Ptprb A G 10: 116,216,759 (GRCm39) Q1959R probably damaging Het
Rhbdf1 A G 11: 32,160,222 (GRCm39) probably null Het
Rnf167 T C 11: 70,540,308 (GRCm39) V110A probably damaging Het
Rrp9 C T 9: 106,362,525 (GRCm39) S470F probably benign Het
Rtn3 G A 19: 7,435,560 (GRCm39) P125L probably benign Het
Scube1 C T 15: 83,561,124 (GRCm39) C156Y probably damaging Het
Tgm2 A T 2: 157,973,375 (GRCm39) Y245* probably null Het
Timeless T C 10: 128,076,112 (GRCm39) I68T probably damaging Het
Ttn A G 2: 76,645,054 (GRCm39) S12934P probably damaging Het
Vwa5b2 T A 16: 20,413,428 (GRCm39) Y214* probably null Het
Yars2 T A 16: 16,122,484 (GRCm39) N7K probably damaging Het
Zfp142 G A 1: 74,617,404 (GRCm39) Q150* probably null Het
Zfp995 C T 17: 22,106,339 (GRCm39) probably benign 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
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
R6956:Psmd3 UTSW 11 98,586,377 (GRCm39) missense probably damaging 1.00
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
(F):5'- TTTGCAGCTGCTCGGTCATC -3'
(R):5'- GAGAACAGGTTCGGTCATCG -3'

Sequencing Primer
(F):5'- TGAGGGTTTACGCGAGGCC -3'
(R):5'- TGACCCCAGCTCCATTGAC -3'
Posted On 2016-10-26