Incidental Mutation 'R3014:Psmg1'
ID 257615
Institutional Source Beutler Lab
Gene Symbol Psmg1
Ensembl Gene ENSMUSG00000022913
Gene Name proteasome (prosome, macropain) assembly chaperone 1
Synonyms Dscr2
MMRRC Submission 040535-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3014 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 95781133-95792160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95781248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 266 (I266F)
Ref Sequence ENSEMBL: ENSMUSP00000113102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023630] [ENSMUST00000117044]
AlphaFold Q9JK23
Predicted Effect probably damaging
Transcript: ENSMUST00000023630
AA Change: I287F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000117044
AA Change: I266F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele die by E6.5. Mice homozygous for a conditional allele activated in the brain exhibit abnormal brain development, neurological defects, and die by P21. Mice homozygous for a conditional allele activated in the liver exhibit premature hepatocyte senescence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt4 G T 2: 151,771,517 (GRCm39) V278L probably benign Het
Dmbt1 A G 7: 130,633,827 (GRCm39) probably benign Het
Dnah2 A T 11: 69,321,304 (GRCm39) N3921K probably benign Het
Duxf4 G A 10: 58,071,356 (GRCm39) T286I possibly damaging Het
Fam193a A T 5: 34,623,016 (GRCm39) E1201D probably benign Het
Gm10220 G C 5: 26,322,826 (GRCm39) D195E probably damaging Het
Gmps A G 3: 63,922,857 (GRCm39) K607E possibly damaging Het
Gprin1 T A 13: 54,886,288 (GRCm39) D662V probably benign Het
Gria4 A G 9: 4,464,294 (GRCm39) I556T probably damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Hcar2 A T 5: 124,002,768 (GRCm39) V245E probably damaging Het
Hmces T G 6: 87,894,823 (GRCm39) D62E probably benign Het
Ighv1-4 T A 12: 114,450,769 (GRCm39) Y113F possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kng1 C T 16: 22,898,120 (GRCm39) H507Y possibly damaging Het
Lypd10 A G 7: 24,412,821 (GRCm39) I76M possibly damaging Het
Map3k5 A T 10: 19,970,175 (GRCm39) Y694F probably damaging Het
Myo1a T G 10: 127,552,214 (GRCm39) F778V probably damaging Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Or1ad1 A G 11: 50,875,534 (GRCm39) D2G probably benign Het
Or4l1 G A 14: 50,166,489 (GRCm39) H171Y probably benign Het
Or6aa1 A G 7: 86,043,884 (GRCm39) V274A probably benign Het
Or6z6 A T 7: 6,491,470 (GRCm39) Y134* probably null Het
Parp3 C A 9: 106,348,514 (GRCm39) S507I possibly damaging Het
Ppip5k2 T A 1: 97,671,800 (GRCm39) T491S probably damaging Het
Ptpn23 T C 9: 110,218,763 (GRCm39) T476A probably benign Het
Rttn G C 18: 89,032,744 (GRCm39) V671L probably damaging Het
Srsf7 T C 17: 80,508,990 (GRCm39) E235G unknown Het
Sv2a G A 3: 96,096,751 (GRCm39) W416* probably null Het
Tas2r107 A G 6: 131,636,972 (GRCm39) Y26H probably benign Het
Tenm2 T C 11: 35,914,800 (GRCm39) T2245A probably damaging Het
Vmn2r13 T A 5: 109,319,627 (GRCm39) H451L possibly damaging Het
Xkr6 T C 14: 64,056,793 (GRCm39) Y235H unknown Het
Other mutations in Psmg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Psmg1 APN 16 95,781,268 (GRCm39) missense possibly damaging 0.83
IGL01585:Psmg1 APN 16 95,789,221 (GRCm39) missense possibly damaging 0.94
IGL02597:Psmg1 APN 16 95,788,497 (GRCm39) missense probably damaging 1.00
R0306:Psmg1 UTSW 16 95,788,540 (GRCm39) missense probably damaging 1.00
R0362:Psmg1 UTSW 16 95,789,171 (GRCm39) missense possibly damaging 0.91
R0506:Psmg1 UTSW 16 95,790,687 (GRCm39) unclassified probably benign
R2566:Psmg1 UTSW 16 95,783,395 (GRCm39) nonsense probably null
R4944:Psmg1 UTSW 16 95,790,812 (GRCm39) unclassified probably benign
R5048:Psmg1 UTSW 16 95,785,171 (GRCm39) missense probably benign 0.34
R5771:Psmg1 UTSW 16 95,783,369 (GRCm39) missense probably damaging 1.00
R6086:Psmg1 UTSW 16 95,781,244 (GRCm39) missense probably damaging 1.00
R6499:Psmg1 UTSW 16 95,789,297 (GRCm39) missense probably damaging 1.00
R9282:Psmg1 UTSW 16 95,790,717 (GRCm39) missense probably damaging 0.99
X0066:Psmg1 UTSW 16 95,788,520 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- TGTATCACCTCTGGAAGAAAGG -3'
(R):5'- TGTTCCCTTTCCATTGAGCAAG -3'

Sequencing Primer
(F):5'- GTAAATCCAGCTCCAGGGTATC -3'
(R):5'- TTTCCATTGAGCAAGACAAAAGACAG -3'
Posted On 2015-01-11