Incidental Mutation 'IGL01630:Psmg2'
ID |
278719 |
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 # |
IGL01630
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam30 |
A |
G |
3: 98,069,171 (GRCm39) |
T207A |
possibly damaging |
Het |
Ak8 |
T |
A |
2: 28,602,291 (GRCm39) |
M75K |
probably benign |
Het |
Aldh1a7 |
A |
T |
19: 20,673,693 (GRCm39) |
|
probably benign |
Het |
Ankrd34c |
G |
A |
9: 89,611,879 (GRCm39) |
T154I |
probably damaging |
Het |
Arrb2 |
A |
G |
11: 70,327,697 (GRCm39) |
I120M |
probably damaging |
Het |
Atp2a1 |
A |
G |
7: 126,049,437 (GRCm39) |
V535A |
probably benign |
Het |
Cckbr |
G |
T |
7: 105,083,293 (GRCm39) |
W165C |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,564,648 (GRCm39) |
H1677Q |
probably damaging |
Het |
Fancd2 |
T |
C |
6: 113,540,085 (GRCm39) |
F658S |
probably damaging |
Het |
Gm5581 |
A |
T |
6: 131,145,259 (GRCm39) |
|
noncoding transcript |
Het |
H2-M3 |
A |
G |
17: 37,581,548 (GRCm39) |
E70G |
possibly damaging |
Het |
Hltf |
A |
G |
3: 20,137,068 (GRCm39) |
|
probably benign |
Het |
Ighv1-24 |
C |
A |
12: 114,736,673 (GRCm39) |
V76F |
probably benign |
Het |
Igkv1-110 |
A |
T |
6: 68,248,145 (GRCm39) |
R85W |
probably damaging |
Het |
Kif9 |
A |
C |
9: 110,314,138 (GRCm39) |
R43S |
probably benign |
Het |
Klf11 |
T |
C |
12: 24,710,368 (GRCm39) |
I472T |
probably benign |
Het |
Napsa |
A |
G |
7: 44,236,089 (GRCm39) |
Y376C |
probably damaging |
Het |
Notch2 |
C |
T |
3: 98,053,934 (GRCm39) |
A2199V |
possibly damaging |
Het |
Or10a5 |
A |
T |
7: 106,636,318 (GRCm39) |
|
probably benign |
Het |
Or1e30 |
A |
G |
11: 73,678,687 (GRCm39) |
K308E |
probably benign |
Het |
Pcnt |
T |
A |
10: 76,256,080 (GRCm39) |
D720V |
probably damaging |
Het |
Ptk6 |
T |
C |
2: 180,838,859 (GRCm39) |
E298G |
probably damaging |
Het |
Rbm27 |
T |
A |
18: 42,434,905 (GRCm39) |
L323H |
probably damaging |
Het |
Sall3 |
A |
G |
18: 81,014,484 (GRCm39) |
L1076P |
probably benign |
Het |
Sprr2h |
A |
G |
3: 92,294,258 (GRCm39) |
N35S |
unknown |
Het |
Susd1 |
T |
C |
4: 59,365,817 (GRCm39) |
D412G |
possibly damaging |
Het |
Ugdh |
T |
A |
5: 65,574,248 (GRCm39) |
M432L |
probably benign |
Het |
Uggt2 |
C |
T |
14: 119,280,184 (GRCm39) |
V765I |
probably benign |
Het |
Unc13d |
T |
C |
11: 115,964,692 (GRCm39) |
Q258R |
probably benign |
Het |
Wdfy3 |
A |
T |
5: 102,055,354 (GRCm39) |
F1572Y |
probably benign |
Het |
Xpo1 |
A |
G |
11: 23,235,846 (GRCm39) |
T645A |
probably benign |
Het |
Zer1 |
A |
G |
2: 29,991,843 (GRCm39) |
V659A |
probably damaging |
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 |
|
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 |
|
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 |