Incidental Mutation 'IGL02597:Psmg1'
ID 299897
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmg1
Ensembl Gene ENSMUSG00000022913
Gene Name proteasome (prosome, macropain) assembly chaperone 1
Synonyms Dscr2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02597
Quality Score
Status
Chromosome 16
Chromosomal Location 95781133-95792160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95788497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 152 (E152G)
Ref Sequence ENSEMBL: ENSMUSP00000023630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023630] [ENSMUST00000023631] [ENSMUST00000099502] [ENSMUST00000117044] [ENSMUST00000149066]
AlphaFold Q9JK23
Predicted Effect probably damaging
Transcript: ENSMUST00000023630
AA Change: E152G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000023631
SMART Domains Protein: ENSMUSP00000023631
Gene: ENSMUSG00000022914

DomainStartEndE-ValueType
low complexity region 36 48 N/A INTRINSIC
WD40 175 214 1.3e-7 SMART
WD40 217 256 2.26e-7 SMART
WD40 259 302 1.83e-7 SMART
WD40 311 352 3.82e1 SMART
WD40 357 396 4.27e-8 SMART
WD40 417 454 8.59e-1 SMART
WD40 457 497 1.47e-6 SMART
WD40 504 544 9.21e0 SMART
low complexity region 660 676 N/A INTRINSIC
low complexity region 753 767 N/A INTRINSIC
low complexity region 852 868 N/A INTRINSIC
low complexity region 906 927 N/A INTRINSIC
BROMO 1156 1267 1.72e-6 SMART
low complexity region 1277 1292 N/A INTRINSIC
BROMO 1317 1422 2.65e-30 SMART
low complexity region 1497 1513 N/A INTRINSIC
low complexity region 1543 1558 N/A INTRINSIC
internal_repeat_1 1574 1762 1.42e-9 PROSPERO
low complexity region 1764 1775 N/A INTRINSIC
internal_repeat_1 1857 2050 1.42e-9 PROSPERO
low complexity region 2165 2174 N/A INTRINSIC
low complexity region 2260 2270 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099502
SMART Domains Protein: ENSMUSP00000097101
Gene: ENSMUSG00000022914

DomainStartEndE-ValueType
low complexity region 36 48 N/A INTRINSIC
WD40 175 214 1.3e-7 SMART
WD40 217 256 2.26e-7 SMART
WD40 259 302 1.83e-7 SMART
WD40 311 352 3.82e1 SMART
WD40 357 396 4.27e-8 SMART
WD40 417 454 8.59e-1 SMART
WD40 457 497 1.47e-6 SMART
WD40 504 544 9.21e0 SMART
low complexity region 660 676 N/A INTRINSIC
low complexity region 753 767 N/A INTRINSIC
low complexity region 852 868 N/A INTRINSIC
low complexity region 906 927 N/A INTRINSIC
BROMO 1156 1267 1.72e-6 SMART
low complexity region 1277 1292 N/A INTRINSIC
BROMO 1317 1422 2.65e-30 SMART
low complexity region 1497 1513 N/A INTRINSIC
low complexity region 1543 1558 N/A INTRINSIC
internal_repeat_1 1574 1762 1.42e-9 PROSPERO
low complexity region 1764 1775 N/A INTRINSIC
internal_repeat_1 1857 2050 1.42e-9 PROSPERO
low complexity region 2165 2174 N/A INTRINSIC
low complexity region 2260 2270 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117044
Predicted Effect probably benign
Transcript: ENSMUST00000149066
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150692
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 A G 10: 85,469,665 (GRCm39) Y862C probably damaging Het
Anapc1 T C 2: 128,465,851 (GRCm39) K1648E probably benign Het
Arhgef10 C T 8: 14,980,198 (GRCm39) A146V probably benign Het
Atp7a A T X: 105,113,494 (GRCm39) N34I probably benign Het
Casq2 A G 3: 102,033,953 (GRCm39) Y232C probably damaging Het
Cdan1 A T 2: 120,555,720 (GRCm39) N738K probably benign Het
Cdh24 A G 14: 54,870,972 (GRCm39) V132A possibly damaging Het
Chd5 C A 4: 152,456,169 (GRCm39) T946K probably damaging Het
Clip4 T C 17: 72,156,965 (GRCm39) probably benign Het
Copz2 T C 11: 96,748,425 (GRCm39) probably benign Het
Cyp2c39 C A 19: 39,549,331 (GRCm39) S283* probably null Het
Dlec1 A T 9: 118,963,604 (GRCm39) S973C probably damaging Het
Far1 A T 7: 113,150,463 (GRCm39) T264S probably benign Het
Iqgap1 A G 7: 80,373,633 (GRCm39) L1452P probably damaging Het
Irx5 A C 8: 93,087,400 (GRCm39) N444T possibly damaging Het
Kcnip2 A G 19: 45,784,712 (GRCm39) probably benign Het
Kmt2d A T 15: 98,761,712 (GRCm39) M546K unknown Het
Lrrc37a A G 11: 103,395,113 (GRCm39) L104S probably benign Het
Med12 T C X: 100,328,538 (GRCm39) L1143P probably damaging Het
Mtcl1 T C 17: 66,645,016 (GRCm39) H1477R probably benign Het
Nkap T A X: 36,411,437 (GRCm39) probably benign Het
Ntmt2 A G 1: 163,544,656 (GRCm39) V109A probably benign Het
Or10a2 A T 7: 106,673,646 (GRCm39) T204S possibly damaging Het
Osbpl6 C T 2: 76,386,318 (GRCm39) Q214* probably null Het
Pex1 C T 5: 3,685,865 (GRCm39) T1202I possibly damaging Het
Prrc2b A T 2: 32,109,625 (GRCm39) N1066I probably damaging Het
Scn10a A G 9: 119,439,189 (GRCm39) I1560T probably damaging Het
Shd A G 17: 56,280,987 (GRCm39) E221G possibly damaging Het
Slc39a4 T C 15: 76,497,824 (GRCm39) T478A probably benign Het
Snx2 A G 18: 53,343,444 (GRCm39) I281V probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tmem161a A T 8: 70,634,693 (GRCm39) R297S probably damaging Het
Tns1 A G 1: 74,025,032 (GRCm39) probably null Het
Ugt2b36 G A 5: 87,228,783 (GRCm39) T420M probably damaging Het
Wdfy4 G A 14: 32,812,818 (GRCm39) R1652* probably null Het
Zap70 T A 1: 36,811,001 (GRCm39) Y178* probably null Het
Zdhhc3 A G 9: 122,929,456 (GRCm39) F60L probably damaging 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
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
R3014:Psmg1 UTSW 16 95,781,248 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16