Incidental Mutation 'IGL00335:Psmg1'
ID 3941
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 # IGL00335
Quality Score
Status
Chromosome 16
Chromosomal Location 95781133-95792160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 95781268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 259 (T259I)
Ref Sequence ENSEMBL: ENSMUSP00000113102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023630] [ENSMUST00000117044] [ENSMUST00000149066]
AlphaFold Q9JK23
Predicted Effect possibly damaging
Transcript: ENSMUST00000023630
AA Change: T280I

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000117044
AA Change: T259I

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000149066
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700048O20Rik C A 9: 121,769,833 (GRCm39) noncoding transcript Het
4930579F01Rik C A 3: 137,891,959 (GRCm39) probably benign Het
Aurkc T A 7: 6,999,547 (GRCm39) I18N probably damaging Het
Bace1 T C 9: 45,750,588 (GRCm39) probably null Het
Chrne C T 11: 70,506,588 (GRCm39) V311I probably benign Het
Cimip2b G A 4: 43,428,158 (GRCm39) R100W possibly damaging Het
Cyp2c70 C T 19: 40,156,020 (GRCm39) V177M probably damaging Het
Dusp10 A G 1: 183,801,328 (GRCm39) E365G probably benign Het
Fcgbp C A 7: 27,785,560 (GRCm39) N332K possibly damaging Het
Irx4 T C 13: 73,416,810 (GRCm39) V402A probably benign Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Lama3 A G 18: 12,582,645 (GRCm39) probably benign Het
Lhfpl7 A G 5: 113,383,869 (GRCm39) R96G probably benign Het
Lrrc8b T C 5: 105,628,365 (GRCm39) I237T probably damaging Het
Mepe G T 5: 104,485,843 (GRCm39) G328C probably damaging Het
Numb A G 12: 83,854,906 (GRCm39) I129T probably damaging Het
Or5h25 T C 16: 58,930,961 (GRCm39) D4G probably benign Het
Or6c209 T C 10: 129,483,306 (GRCm39) I103T probably benign Het
Osmr T C 15: 6,866,504 (GRCm39) D390G probably benign Het
Pglyrp3 G A 3: 91,929,986 (GRCm39) V51I probably damaging Het
Phactr2 T C 10: 13,121,279 (GRCm39) T470A probably damaging Het
Rtl3 T C X: 105,882,543 (GRCm39) T240A probably benign Het
Ryr1 C T 7: 28,824,385 (GRCm39) probably null Het
Slc10a6 A G 5: 103,756,991 (GRCm39) S258P probably benign Het
Slc1a6 T C 10: 78,637,647 (GRCm39) L391P probably damaging Het
Slc6a7 C T 18: 61,134,681 (GRCm39) V465M possibly damaging Het
Sost T C 11: 101,857,705 (GRCm39) D32G probably damaging Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Tifab A G 13: 56,324,282 (GRCm39) S54P probably damaging Het
Tnrc6a T A 7: 122,770,003 (GRCm39) S598T probably benign Het
Vmn2r1 T A 3: 64,012,809 (GRCm39) I890N probably damaging Het
Wapl A G 14: 34,414,593 (GRCm39) D485G probably benign Het
Wee2 A T 6: 40,438,995 (GRCm39) I373F probably damaging Het
Xkr6 A G 14: 64,056,664 (GRCm39) T192A probably damaging Het
Zfp638 A G 6: 83,956,700 (GRCm39) D1769G probably damaging Het
Other mutations in Psmg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20