Incidental Mutation 'IGL01630:Psmg2'
ID 278719
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmg2
Ensembl Gene ENSMUSG00000024537
Gene Name proteasome (prosome, macropain) assembly chaperone 2
Synonyms 1700017I17Rik, Tnfsf5ip1, Clast3
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # IGL01630
Quality Score
Status
Chromosome 18
Chromosomal Location 67774669-67787232 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 67786293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 218 (V218I)
Ref Sequence ENSEMBL: ENSMUSP00000025418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025418]
AlphaFold Q9EST4
Predicted Effect probably benign
Transcript: ENSMUST00000025418
AA Change: V218I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025418
Gene: ENSMUSG00000024537
AA Change: V218I

DomainStartEndE-ValueType
Pfam:PAC2 17 230 3.8e-38 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 A G 3: 98,069,171 (GRCm39) T207A possibly damaging Het
Ak8 T A 2: 28,602,291 (GRCm39) M75K probably benign Het
Aldh1a7 A T 19: 20,673,693 (GRCm39) probably benign Het
Ankrd34c G A 9: 89,611,879 (GRCm39) T154I probably damaging Het
Arrb2 A G 11: 70,327,697 (GRCm39) I120M probably damaging Het
Atp2a1 A G 7: 126,049,437 (GRCm39) V535A probably benign Het
Cckbr G T 7: 105,083,293 (GRCm39) W165C probably damaging Het
Col12a1 A T 9: 79,564,648 (GRCm39) H1677Q probably damaging Het
Fancd2 T C 6: 113,540,085 (GRCm39) F658S probably damaging Het
Gm5581 A T 6: 131,145,259 (GRCm39) noncoding transcript Het
H2-M3 A G 17: 37,581,548 (GRCm39) E70G possibly damaging Het
Hltf A G 3: 20,137,068 (GRCm39) probably benign Het
Ighv1-24 C A 12: 114,736,673 (GRCm39) V76F probably benign Het
Igkv1-110 A T 6: 68,248,145 (GRCm39) R85W probably damaging Het
Kif9 A C 9: 110,314,138 (GRCm39) R43S probably benign Het
Klf11 T C 12: 24,710,368 (GRCm39) I472T probably benign Het
Napsa A G 7: 44,236,089 (GRCm39) Y376C probably damaging Het
Notch2 C T 3: 98,053,934 (GRCm39) A2199V possibly damaging Het
Or10a5 A T 7: 106,636,318 (GRCm39) probably benign Het
Or1e30 A G 11: 73,678,687 (GRCm39) K308E probably benign Het
Pcnt T A 10: 76,256,080 (GRCm39) D720V probably damaging Het
Ptk6 T C 2: 180,838,859 (GRCm39) E298G probably damaging Het
Rbm27 T A 18: 42,434,905 (GRCm39) L323H probably damaging Het
Sall3 A G 18: 81,014,484 (GRCm39) L1076P probably benign Het
Sprr2h A G 3: 92,294,258 (GRCm39) N35S unknown Het
Susd1 T C 4: 59,365,817 (GRCm39) D412G possibly damaging Het
Ugdh T A 5: 65,574,248 (GRCm39) M432L probably benign Het
Uggt2 C T 14: 119,280,184 (GRCm39) V765I probably benign Het
Unc13d T C 11: 115,964,692 (GRCm39) Q258R probably benign Het
Wdfy3 A T 5: 102,055,354 (GRCm39) F1572Y probably benign Het
Xpo1 A G 11: 23,235,846 (GRCm39) T645A probably benign Het
Zer1 A G 2: 29,991,843 (GRCm39) V659A probably damaging Het
Other mutations in Psmg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01550:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01557:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01560:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01563:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01569:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01570:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01571:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01574:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01586:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01611:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01615:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01617:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL03064:Psmg2 APN 18 67,779,102 (GRCm39) nonsense probably null
R0757:Psmg2 UTSW 18 67,779,095 (GRCm39) frame shift probably null
R1320:Psmg2 UTSW 18 67,777,391 (GRCm39) missense probably damaging 0.98
R1363:Psmg2 UTSW 18 67,779,095 (GRCm39) frame shift probably null
R1368:Psmg2 UTSW 18 67,779,095 (GRCm39) frame shift probably null
R1759:Psmg2 UTSW 18 67,781,246 (GRCm39) missense probably benign 0.04
R1761:Psmg2 UTSW 18 67,779,095 (GRCm39) frame shift probably null
R2696:Psmg2 UTSW 18 67,781,288 (GRCm39) missense possibly damaging 0.88
R4806:Psmg2 UTSW 18 67,781,992 (GRCm39) missense probably benign 0.14
R4916:Psmg2 UTSW 18 67,781,926 (GRCm39) missense probably damaging 1.00
R5737:Psmg2 UTSW 18 67,779,107 (GRCm39) missense possibly damaging 0.95
R6620:Psmg2 UTSW 18 67,774,807 (GRCm39) critical splice donor site probably null
R6823:Psmg2 UTSW 18 67,781,927 (GRCm39) missense possibly damaging 0.63
R7147:Psmg2 UTSW 18 67,786,338 (GRCm39) missense probably benign 0.03
R8547:Psmg2 UTSW 18 67,779,077 (GRCm39) missense possibly damaging 0.71
R8826:Psmg2 UTSW 18 67,787,158 (GRCm39) utr 3 prime probably benign
Z1177:Psmg2 UTSW 18 67,786,244 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16