Incidental Mutation 'IGL01557:Psmg2'
ID |
278576 |
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)
|
Stock # |
IGL01557
|
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
Domain | Start | End | E-Value | Type |
Pfam:PAC2
|
17 |
230 |
3.8e-38 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
T |
A |
18: 59,101,792 (GRCm39) |
|
probably null |
Het |
Arl9 |
T |
G |
5: 77,151,948 (GRCm39) |
|
probably null |
Het |
Ces3a |
C |
A |
8: 105,784,383 (GRCm39) |
T439K |
probably damaging |
Het |
Cyp3a25 |
A |
G |
5: 145,921,711 (GRCm39) |
W408R |
probably damaging |
Het |
Defb22 |
T |
G |
2: 152,327,999 (GRCm39) |
D62A |
possibly damaging |
Het |
Dnah17 |
C |
T |
11: 117,964,512 (GRCm39) |
R2422Q |
probably damaging |
Het |
Ehd3 |
A |
G |
17: 74,112,275 (GRCm39) |
K13R |
probably benign |
Het |
Fndc1 |
T |
C |
17: 7,975,221 (GRCm39) |
E1406G |
probably damaging |
Het |
Gak |
A |
C |
5: 108,732,203 (GRCm39) |
Y762D |
probably damaging |
Het |
Igf2r |
A |
G |
17: 12,923,522 (GRCm39) |
S1187P |
possibly damaging |
Het |
Ighmbp2 |
T |
C |
19: 3,331,472 (GRCm39) |
E68G |
probably benign |
Het |
Itpr2 |
T |
C |
6: 146,060,474 (GRCm39) |
T2448A |
probably damaging |
Het |
Lrrk2 |
T |
G |
15: 91,584,192 (GRCm39) |
C317W |
probably damaging |
Het |
Morc1 |
T |
A |
16: 48,319,129 (GRCm39) |
S278T |
probably damaging |
Het |
Mrps9 |
T |
C |
1: 42,890,510 (GRCm39) |
V20A |
probably benign |
Het |
Nutm1 |
A |
T |
2: 112,082,163 (GRCm39) |
N304K |
probably benign |
Het |
Or14j8 |
G |
A |
17: 38,263,742 (GRCm39) |
P58S |
probably damaging |
Het |
Pcdhb9 |
T |
C |
18: 37,536,100 (GRCm39) |
V698A |
probably damaging |
Het |
Pitrm1 |
C |
A |
13: 6,602,720 (GRCm39) |
D70E |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,187,203 (GRCm39) |
T3702A |
possibly damaging |
Het |
Ppm1h |
A |
T |
10: 122,618,086 (GRCm39) |
|
probably null |
Het |
Ptpn5 |
T |
C |
7: 46,731,636 (GRCm39) |
Y411C |
probably damaging |
Het |
Spon2 |
G |
A |
5: 33,374,047 (GRCm39) |
A112V |
probably damaging |
Het |
Zfp648 |
T |
A |
1: 154,080,426 (GRCm39) |
V195D |
probably benign |
Het |
|
Other mutations in Psmg2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01550: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 |