Incidental Mutation 'R4033:Psmg3'
ID 313578
Institutional Source Beutler Lab
Gene Symbol Psmg3
Ensembl Gene ENSMUSG00000029551
Gene Name proteasome (prosome, macropain) assembly chaperone 3
Synonyms 4930403H09Rik, 1810042K04Rik
MMRRC Submission 040961-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.885) question?
Stock # R4033 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 139809368-139812649 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 139812086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 5 (P5S)
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: P5S

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000031531
Gene: ENSMUSG00000029551
AA Change: P5S

DomainStartEndE-ValueType
Pfam:PAC3 34 119 1.9e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182602
AA Change: P5S

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000138161
Gene: ENSMUSG00000029551
AA Change: P5S

DomainStartEndE-ValueType
Pfam:DUF2372 34 121 2.5e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182743
Predicted Effect probably damaging
Transcript: ENSMUST00000182839
AA Change: P5S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138120
Gene: ENSMUSG00000098140
AA Change: P5S

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 0.0926 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l C G 8: 44,079,710 (GRCm39) M171I probably benign Het
Als2 G T 1: 59,235,400 (GRCm39) S761R probably benign Het
Ankrd63 C A 2: 118,533,412 (GRCm39) probably benign Het
Brf1 G A 12: 112,943,352 (GRCm39) T166M probably damaging Het
Car9 T C 4: 43,508,624 (GRCm39) V131A possibly damaging Het
Cerk T G 15: 86,039,228 (GRCm39) H221P possibly damaging Het
Cfap69 A T 5: 5,654,389 (GRCm39) I458N possibly damaging Het
Chil4 T C 3: 106,121,765 (GRCm39) Y28C probably damaging Het
Cracd A G 5: 77,006,312 (GRCm39) N891S unknown Het
Dmxl1 A G 18: 49,984,498 (GRCm39) T165A possibly damaging Het
Erich6b A T 14: 75,896,207 (GRCm39) N31I probably benign Het
Fgf17 G T 14: 70,878,966 (GRCm39) probably benign Het
Fhit A T 14: 10,751,671 (GRCm38) probably benign Het
Fnip1 A T 11: 54,393,297 (GRCm39) I578L probably benign Het
Gm17641 C T 3: 68,777,146 (GRCm39) R36W probably damaging Het
Gprin2 A T 14: 33,916,635 (GRCm39) D378E probably benign Het
Grhl3 T A 4: 135,300,735 (GRCm39) M1L probably benign Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Ifih1 G A 2: 62,465,534 (GRCm39) S212L probably benign Het
Iqck T C 7: 118,540,827 (GRCm39) I242T probably damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Lsm14b A G 2: 179,673,309 (GRCm39) K195E probably benign Het
Mical1 G A 10: 41,357,172 (GRCm39) V326I probably benign Het
Mtnr1b A T 9: 15,774,830 (GRCm39) N76K probably damaging Het
Nalcn T C 14: 123,837,401 (GRCm39) probably benign Het
Nop14 T C 5: 34,807,861 (GRCm39) D367G probably benign Het
Nrxn3 T C 12: 89,499,771 (GRCm39) C721R probably damaging Het
Or51e1 C T 7: 102,358,697 (GRCm39) T77I probably damaging Het
Prr27 G T 5: 87,991,164 (GRCm39) E259* probably null Het
Pxdn A G 12: 30,053,224 (GRCm39) T1134A probably benign Het
Rbm28 T C 6: 29,159,668 (GRCm39) N120S probably damaging Het
Reg3b A T 6: 78,350,192 (GRCm39) K157N possibly damaging Het
Rlf T G 4: 121,004,540 (GRCm39) Q1480P probably damaging Het
Slc16a12 A T 19: 34,652,567 (GRCm39) L193Q probably damaging Het
Smo G A 6: 29,759,917 (GRCm39) R672H probably damaging Het
Smyd4 A G 11: 75,240,580 (GRCm39) D25G probably benign Het
Sorbs2 C G 8: 46,228,632 (GRCm39) D264E probably damaging Het
Tctn3 G T 19: 40,585,767 (GRCm39) Q593K probably benign Het
Tdrd9 A T 12: 111,958,973 (GRCm39) I136L possibly damaging Het
Tshz3 G A 7: 36,470,009 (GRCm39) S666N possibly damaging Het
Ubn1 C T 16: 4,882,475 (GRCm39) T69M probably damaging Het
Unk A T 11: 115,944,353 (GRCm39) H368L probably benign Het
Zan A T 5: 137,436,122 (GRCm39) L2051* probably null Het
Other mutations in Psmg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2084:Psmg3 UTSW 5 139,809,744 (GRCm39) missense probably benign 0.01
R4568:Psmg3 UTSW 5 139,812,004 (GRCm39) missense probably damaging 0.99
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'- CACTGGCTTGCTGATGTCATTG -3'
(R):5'- TCTGGAAGTGGGACAGCTAG -3'

Sequencing Primer
(F):5'- GATGTCATTGGCCACATTGC -3'
(R):5'- GGTATTGATAACAGGGTCTCCC -3'
Posted On 2015-04-30