Incidental Mutation 'IGL01550:Psmg2'
ID278573
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 #IGL01550
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik T G 11: 3,937,974 R137S unknown Het
Epha8 G T 4: 136,931,740 Q868K possibly damaging Het
Erc1 T A 6: 119,783,394 M386L probably damaging Het
Gfpt2 T A 11: 49,824,323 probably null Het
Gm14124 T A 2: 150,266,443 probably benign Het
Gpr142 T A 11: 114,804,326 L39Q probably damaging Het
Hmcn1 A T 1: 150,598,397 W4765R probably damaging Het
Hmcn2 A T 2: 31,424,252 E3603V possibly damaging Het
Hsp90b1 C T 10: 86,704,370 D26N probably benign Het
Kmt2c T C 5: 25,281,276 T4760A probably damaging Het
Lmo7 C A 14: 101,926,140 probably benign Het
Mup4 A T 4: 59,960,120 I48K probably damaging Het
Mylk3 T A 8: 85,365,089 D29V probably damaging Het
Myo1b A G 1: 51,784,531 F405S probably damaging Het
Nbea T C 3: 55,805,248 D2136G possibly damaging Het
Olfr243 T G 7: 103,716,997 H134Q probably damaging Het
Olfr364-ps1 A T 2: 37,146,974 Y254F probably damaging Het
Olfr869 A T 9: 20,137,454 T113S probably damaging Het
Olfr996 T A 2: 85,579,531 C97* probably null Het
Rpp40 T C 13: 35,906,200 probably null Het
Samd7 T A 3: 30,765,250 S383T probably damaging Het
Tbc1d10c T C 19: 4,184,824 T413A probably damaging Het
Tlr12 A G 4: 128,615,742 L905P probably damaging Het
Tnr A G 1: 159,874,258 K643R probably benign Het
Vmn2r124 T C 17: 18,063,355 probably null Het
Vwf A T 6: 125,679,289 I2606F probably benign Het
Wbp4 T C 14: 79,466,334 T258A probably benign Het
Zfp758 T C 17: 22,375,040 L137S probably damaging Het
Other mutations in Psmg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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