Incidental Mutation 'IGL01550:Psmg2'
ID 278573
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psmg2
Ensembl Gene ENSMUSG00000024537
Gene Name proteasome (prosome, macropain) assembly chaperone 2
Synonyms 1700017I17Rik, Tnfsf5ip1, Clast3
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # IGL01550
Quality Score
Status
Chromosome 18
Chromosomal Location 67774669-67787232 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 67786293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 218 (V218I)
Ref Sequence ENSEMBL: ENSMUSP00000025418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025418]
AlphaFold Q9EST4
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: 3,887,974 (GRCm39) R137S unknown Het
Epha8 G T 4: 136,659,051 (GRCm39) Q868K possibly damaging Het
Erc1 T A 6: 119,760,355 (GRCm39) M386L probably damaging Het
Gfpt2 T A 11: 49,715,150 (GRCm39) probably null Het
Gpr142 T A 11: 114,695,152 (GRCm39) L39Q probably damaging Het
Hmcn1 A T 1: 150,474,148 (GRCm39) W4765R probably damaging Het
Hmcn2 A T 2: 31,314,264 (GRCm39) E3603V possibly damaging Het
Hsp90b1 C T 10: 86,540,234 (GRCm39) D26N probably benign Het
Kmt2c T C 5: 25,486,274 (GRCm39) T4760A probably damaging Het
Lmo7 C A 14: 102,163,576 (GRCm39) probably benign Het
Mup4 A T 4: 59,960,120 (GRCm39) I48K probably damaging Het
Mylk3 T A 8: 86,091,718 (GRCm39) D29V probably damaging Het
Myo1b A G 1: 51,823,690 (GRCm39) F405S probably damaging Het
Nbea T C 3: 55,712,669 (GRCm39) D2136G possibly damaging Het
Or1l4b A T 2: 37,036,986 (GRCm39) Y254F probably damaging Het
Or52a20 T G 7: 103,366,204 (GRCm39) H134Q probably damaging Het
Or5g27 T A 2: 85,409,875 (GRCm39) C97* probably null Het
Or7e175 A T 9: 20,048,750 (GRCm39) T113S probably damaging Het
Rpp40 T C 13: 36,090,183 (GRCm39) probably null Het
Samd7 T A 3: 30,819,399 (GRCm39) S383T probably damaging Het
Tbc1d10c T C 19: 4,234,823 (GRCm39) T413A probably damaging Het
Tlr12 A G 4: 128,509,535 (GRCm39) L905P probably damaging Het
Tnr A G 1: 159,701,828 (GRCm39) K643R probably benign Het
Vmn2r124 T C 17: 18,283,617 (GRCm39) probably null Het
Vwf A T 6: 125,656,252 (GRCm39) I2606F probably benign Het
Wbp4 T C 14: 79,703,774 (GRCm39) T258A probably benign Het
Zfp1005 T A 2: 150,108,363 (GRCm39) probably benign Het
Zfp758 T C 17: 22,594,021 (GRCm39) L137S probably damaging Het
Other mutations in Psmg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01557:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01560:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01563:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01569:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01570:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01571:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01574:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01586:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01611:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01615:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01617:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL01630:Psmg2 APN 18 67,786,293 (GRCm39) missense probably benign
IGL03064:Psmg2 APN 18 67,779,102 (GRCm39) nonsense probably null
R0757:Psmg2 UTSW 18 67,779,095 (GRCm39) frame shift probably null
R1320:Psmg2 UTSW 18 67,777,391 (GRCm39) missense probably damaging 0.98
R1363:Psmg2 UTSW 18 67,779,095 (GRCm39) frame shift probably null
R1368:Psmg2 UTSW 18 67,779,095 (GRCm39) frame shift probably null
R1759:Psmg2 UTSW 18 67,781,246 (GRCm39) missense probably benign 0.04
R1761:Psmg2 UTSW 18 67,779,095 (GRCm39) frame shift probably null
R2696:Psmg2 UTSW 18 67,781,288 (GRCm39) missense possibly damaging 0.88
R4806:Psmg2 UTSW 18 67,781,992 (GRCm39) missense probably benign 0.14
R4916:Psmg2 UTSW 18 67,781,926 (GRCm39) missense probably damaging 1.00
R5737:Psmg2 UTSW 18 67,779,107 (GRCm39) missense possibly damaging 0.95
R6620:Psmg2 UTSW 18 67,774,807 (GRCm39) critical splice donor site probably null
R6823:Psmg2 UTSW 18 67,781,927 (GRCm39) missense possibly damaging 0.63
R7147:Psmg2 UTSW 18 67,786,338 (GRCm39) missense probably benign 0.03
R8547:Psmg2 UTSW 18 67,779,077 (GRCm39) missense possibly damaging 0.71
R8826:Psmg2 UTSW 18 67,787,158 (GRCm39) utr 3 prime probably benign
Z1177:Psmg2 UTSW 18 67,786,244 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16