Incidental Mutation 'IGL01586:Psmg2'
ID278590
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: 0.955) question?
Stock #IGL01586
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik A T 17: 48,128,515 Y144N unknown Het
Abca9 A C 11: 110,154,417 C363W probably damaging Het
Acmsd G A 1: 127,759,710 R243H probably damaging Het
Adam33 T C 2: 131,054,050 T490A probably damaging Het
Ank1 A G 8: 23,120,912 D1411G probably benign Het
Arhgap39 T C 15: 76,730,438 E842G probably benign Het
Asgr2 T C 11: 70,105,367 probably benign Het
Bbs9 T C 9: 22,645,997 V14A possibly damaging Het
Cer1 A G 4: 82,884,843 S81P probably damaging Het
Cln6 T A 9: 62,844,618 H41Q probably damaging Het
Dock1 A G 7: 134,753,377 D334G probably damaging Het
Dpy19l2 A G 9: 24,666,975 I261T probably benign Het
Fhod3 T G 18: 25,090,747 I1050S probably damaging Het
Gbgt1 T C 2: 28,497,830 V22A probably benign Het
Izumo3 A G 4: 92,146,295 probably null Het
Kif11 T C 19: 37,384,233 probably benign Het
Krt2 C A 15: 101,811,390 G615V unknown Het
Midn A G 10: 80,156,643 probably benign Het
Mier1 C T 4: 103,155,572 T342I probably damaging Het
Mycbp2 A T 14: 103,140,869 probably null Het
Nrp1 A T 8: 128,432,032 S267C possibly damaging Het
Olfr145 A G 9: 37,897,976 T191A possibly damaging Het
Pcdh20 A T 14: 88,470,908 M28K probably benign Het
Prmt5 G A 14: 54,509,951 probably benign Het
Rps6ka5 T C 12: 100,570,914 E519G probably damaging Het
Samm50 T A 15: 84,195,838 I39N probably benign Het
Shc2 A T 10: 79,622,304 M515K probably damaging Het
Sorbs2 T A 8: 45,795,594 F608L probably damaging Het
Sos2 T C 12: 69,607,398 K727E probably damaging Het
Sox13 A T 1: 133,389,444 H150Q possibly damaging Het
Tmem132e T C 11: 82,434,669 V165A probably damaging Het
Trmt11 T C 10: 30,597,751 T43A probably benign Het
Tyrp1 G T 4: 80,844,898 V341L probably benign Het
Ugt2b35 C A 5: 87,011,391 H481Q probably benign Het
Zzz3 T A 3: 152,455,839 I290N possibly 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
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
Posted On2015-04-16