Incidental Mutation 'IGL01574:Psmg2'
ID278582
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: 0.952) question?
Stock #IGL01574
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik T C 9: 22,444,130 V487A possibly damaging Het
Ankrd26 T G 6: 118,539,698 T502P probably damaging Het
Apoa4 C A 9: 46,242,985 Q295K probably benign Het
Asxl3 T G 18: 22,523,564 C1544G probably benign Het
Ccl7 G A 11: 82,046,625 V62I probably damaging Het
Ceacam20 C A 7: 19,974,322 T284K possibly damaging Het
Ces4a A T 8: 105,145,227 probably benign Het
Col4a2 G T 8: 11,439,306 G1147V probably damaging Het
Gtf3c4 T C 2: 28,834,436 D428G possibly damaging Het
Itgb2 G A 10: 77,557,964 V413I possibly damaging Het
Itgb7 T G 15: 102,227,540 E20A possibly damaging Het
Kank2 C A 9: 21,794,604 G373W probably damaging Het
Kif1a T A 1: 93,082,340 I28F probably damaging Het
Klhdc7b T C 15: 89,387,369 V818A probably benign Het
Klhl20 T C 1: 161,093,726 Y53C probably damaging Het
Mroh1 A G 15: 76,432,288 N772S probably benign Het
Mtmr4 C T 11: 87,600,647 T146I probably benign Het
Nup210 C T 6: 91,040,564 V1152I probably benign Het
Pclo T A 5: 14,713,448 D3978E unknown Het
Pkd1l3 T C 8: 109,623,771 L416P probably benign Het
Pkn2 T C 3: 142,839,231 M161V possibly damaging Het
Plxnb2 T C 15: 89,162,683 probably null Het
Polr2e C A 10: 80,039,633 D3Y probably damaging Het
Prss27 A T 17: 24,038,371 probably benign Het
Tmem30c T A 16: 57,276,742 I152F possibly damaging Het
Usp2 G A 9: 44,093,803 R378H probably damaging Het
Vmn2r106 A T 17: 20,268,310 I609N possibly damaging Het
Vmn2r51 T A 7: 10,102,454 E133D probably damaging Het
Zkscan3 A T 13: 21,394,091 probably benign 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
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