Incidental Mutation 'IGL01630:Psmg2'
ID278719
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmg2
Ensembl Gene ENSMUSG00000024537
Gene Nameproteasome (prosome, macropain) assembly chaperone 2
SynonymsTnfsf5ip1, 1700017I17Rik, Clast3
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.953) question?
Stock #IGL01630
Quality Score
Status
Chromosome18
Chromosomal Location67641599-67654162 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 67653223 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 218 (V218I)
Ref Sequence ENSEMBL: ENSMUSP00000025418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025418]
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: 98,161,855 T207A possibly damaging Het
Ak8 T A 2: 28,712,279 M75K probably benign Het
Aldh1a7 A T 19: 20,696,329 probably benign Het
Ankrd34c G A 9: 89,729,826 T154I probably damaging Het
Arrb2 A G 11: 70,436,871 I120M probably damaging Het
Atp2a1 A G 7: 126,450,265 V535A probably benign Het
Cckbr G T 7: 105,434,086 W165C probably damaging Het
Col12a1 A T 9: 79,657,366 H1677Q probably damaging Het
Fancd2 T C 6: 113,563,124 F658S probably damaging Het
Gm5581 A T 6: 131,168,296 noncoding transcript Het
H2-M3 A G 17: 37,270,657 E70G possibly damaging Het
Hltf A G 3: 20,082,904 probably benign Het
Ighv1-24 C A 12: 114,773,053 V76F probably benign Het
Igkv1-110 A T 6: 68,271,161 R85W probably damaging Het
Kif9 A C 9: 110,485,070 R43S probably benign Het
Klf11 T C 12: 24,660,369 I472T probably benign Het
Napsa A G 7: 44,586,665 Y376C probably damaging Het
Notch2 C T 3: 98,146,618 A2199V possibly damaging Het
Olfr390 A G 11: 73,787,861 K308E probably benign Het
Olfr713 A T 7: 107,037,111 probably benign Het
Pcnt T A 10: 76,420,246 D720V probably damaging Het
Ptk6 T C 2: 181,197,066 E298G probably damaging Het
Rbm27 T A 18: 42,301,840 L323H probably damaging Het
Sall3 A G 18: 80,971,269 L1076P probably benign Het
Sprr2h A G 3: 92,386,951 N35S unknown Het
Susd1 T C 4: 59,365,817 D412G possibly damaging Het
Ugdh T A 5: 65,416,905 M432L probably benign Het
Uggt2 C T 14: 119,042,772 V765I probably benign Het
Unc13d T C 11: 116,073,866 Q258R probably benign Het
Wdfy3 A T 5: 101,907,488 F1572Y probably benign Het
Xpo1 A G 11: 23,285,846 T645A probably benign Het
Zer1 A G 2: 30,101,831 V659A probably damaging Het
Other mutations in Psmg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01550:Psmg2 APN 18 67653223 missense probably benign
IGL01557:Psmg2 APN 18 67653223 missense probably benign
IGL01560:Psmg2 APN 18 67653223 missense probably benign
IGL01563:Psmg2 APN 18 67653223 missense probably benign
IGL01569:Psmg2 APN 18 67653223 missense probably benign
IGL01570:Psmg2 APN 18 67653223 missense probably benign
IGL01571:Psmg2 APN 18 67653223 missense probably benign
IGL01574:Psmg2 APN 18 67653223 missense probably benign
IGL01586:Psmg2 APN 18 67653223 missense probably benign
IGL01611:Psmg2 APN 18 67653223 missense probably benign
IGL01615:Psmg2 APN 18 67653223 missense probably benign
IGL01617:Psmg2 APN 18 67653223 missense probably benign
IGL03064:Psmg2 APN 18 67646032 nonsense probably null
R0757:Psmg2 UTSW 18 67646025 frame shift probably null
R1320:Psmg2 UTSW 18 67644321 missense probably damaging 0.98
R1363:Psmg2 UTSW 18 67646025 frame shift probably null
R1368:Psmg2 UTSW 18 67646025 frame shift probably null
R1759:Psmg2 UTSW 18 67648176 missense probably benign 0.04
R1761:Psmg2 UTSW 18 67646025 frame shift probably null
R2696:Psmg2 UTSW 18 67648218 missense possibly damaging 0.88
R4806:Psmg2 UTSW 18 67648922 missense probably benign 0.14
R4916:Psmg2 UTSW 18 67648856 missense probably damaging 1.00
R5737:Psmg2 UTSW 18 67646037 missense possibly damaging 0.95
R6620:Psmg2 UTSW 18 67641737 critical splice donor site probably null
R6823:Psmg2 UTSW 18 67648857 missense possibly damaging 0.63
R7147:Psmg2 UTSW 18 67653268 missense probably benign 0.03
Z1177:Psmg2 UTSW 18 67653174 missense probably benign 0.00
Posted On2015-04-16