Incidental Mutation 'IGL01570:Psmg2'
ID278580
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: 0.951) question?
Stock #IGL01570
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 T C 16: 20,559,998 S54P probably damaging Het
Adam5 A G 8: 24,810,823 V230A probably damaging Het
Arid4b T A 13: 14,186,809 probably benign Het
Cep250 T G 2: 155,967,663 probably benign Het
Col28a1 T A 6: 8,014,540 D955V probably damaging Het
Gm7676 A G 8: 13,896,311 noncoding transcript Het
Hao1 A G 2: 134,554,200 S45P probably damaging Het
Hars2 A T 18: 36,787,592 I163L probably benign Het
Iqgap1 T C 7: 80,723,061 Y1510C possibly damaging Het
Itga4 G A 2: 79,322,634 probably null Het
Kif18b G A 11: 102,912,391 H498Y probably benign Het
Kin C T 2: 10,091,952 T204M probably benign Het
Lmo7 T C 14: 101,902,371 probably null Het
Ltbp2 G A 12: 84,794,033 T1009I probably benign Het
Mad1l1 A G 5: 140,117,277 S489P probably benign Het
Memo1 A G 17: 74,217,108 probably benign Het
Myocd T A 11: 65,200,807 H103L probably benign Het
Nhlrc2 T A 19: 56,574,787 F273I possibly damaging Het
Olfr385 C A 11: 73,589,383 M118I probably benign Het
Olfr481 A T 7: 108,081,273 T160S probably benign Het
Olfr978 T C 9: 39,994,329 I173T probably damaging Het
Pappa2 A C 1: 158,814,540 Y1315* probably null Het
Pdzk1ip1 C T 4: 115,089,017 P25S possibly damaging Het
Ppp2r5d A T 17: 46,687,917 V73D possibly damaging Het
Qars C T 9: 108,511,539 T266M probably damaging Het
Slc26a2 A C 18: 61,198,260 C700G possibly damaging Het
Zfp638 C A 6: 83,947,847 A724E 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
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
IGL01630: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