Incidental Mutation 'IGL00335:Psmg1'
ID3941
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmg1
Ensembl Gene ENSMUSG00000022913
Gene Nameproteasome (prosome, macropain) assembly chaperone 1
SynonymsDscr2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00335
Quality Score
Status
Chromosome16
Chromosomal Location95979954-95990903 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 95980068 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 259 (T259I)
Ref Sequence ENSEMBL: ENSMUSP00000113102 (fasta)
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: 121,940,767 noncoding transcript Het
4930579F01Rik C A 3: 138,186,198 probably benign Het
Aurkc T A 7: 6,996,548 I18N probably damaging Het
Bace1 T C 9: 45,839,290 probably null Het
Chrne C T 11: 70,615,762 V311I probably benign Het
Cyp2c70 C T 19: 40,167,576 V177M probably damaging Het
Dusp10 A G 1: 184,069,131 E365G probably benign Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fcgbp C A 7: 28,086,135 N332K possibly damaging Het
Irx4 T C 13: 73,268,691 V402A probably benign Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Lama3 A G 18: 12,449,588 probably benign Het
Lrrc8b T C 5: 105,480,499 I237T probably damaging Het
Mepe G T 5: 104,337,977 G328C probably damaging Het
Numb A G 12: 83,808,132 I129T probably damaging Het
Olfr193 T C 16: 59,110,598 D4G probably benign Het
Olfr799 T C 10: 129,647,437 I103T probably benign Het
Osmr T C 15: 6,837,023 D390G probably benign Het
Pglyrp3 G A 3: 92,022,679 V51I probably damaging Het
Phactr2 T C 10: 13,245,535 T470A probably damaging Het
Rtl3 T C X: 106,838,937 T240A probably benign Het
Ryr1 C T 7: 29,124,960 probably null Het
Slc10a6 A G 5: 103,609,125 S258P probably benign Het
Slc1a6 T C 10: 78,801,813 L391P probably damaging Het
Slc6a7 C T 18: 61,001,609 V465M possibly damaging Het
Sost T C 11: 101,966,879 D32G probably damaging Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Tifab A G 13: 56,176,469 S54P probably damaging Het
Tmem211 A G 5: 113,236,003 R96G probably benign Het
Tnrc6a T A 7: 123,170,780 S598T probably benign Het
Vmn2r1 T A 3: 64,105,388 I890N probably damaging Het
Wapl A G 14: 34,692,636 D485G probably benign Het
Wee2 A T 6: 40,462,061 I373F probably damaging Het
Xkr6 A G 14: 63,819,215 T192A probably damaging Het
Zfp638 A G 6: 83,979,718 D1769G probably damaging Het
Other mutations in Psmg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01585:Psmg1 APN 16 95988021 missense possibly damaging 0.94
IGL02597:Psmg1 APN 16 95987297 missense probably damaging 1.00
R0306:Psmg1 UTSW 16 95987340 missense probably damaging 1.00
R0362:Psmg1 UTSW 16 95987971 missense possibly damaging 0.91
R0506:Psmg1 UTSW 16 95989487 unclassified probably benign
R2566:Psmg1 UTSW 16 95982195 nonsense probably null
R3014:Psmg1 UTSW 16 95980048 missense probably damaging 1.00
R4944:Psmg1 UTSW 16 95989612 unclassified probably benign
R5048:Psmg1 UTSW 16 95983971 missense probably benign 0.34
R5771:Psmg1 UTSW 16 95982169 missense probably damaging 1.00
R6086:Psmg1 UTSW 16 95980044 missense probably damaging 1.00
R6499:Psmg1 UTSW 16 95988097 missense probably damaging 1.00
X0066:Psmg1 UTSW 16 95987320 missense probably benign 0.19
Posted On2012-04-20