Incidental Mutation 'IGL01570:Psmg2'
| ID |
278580 |
| 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 # |
IGL01570
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
T |
C |
16: 20,378,748 (GRCm39) |
S54P |
probably damaging |
Het |
| Adam5 |
A |
G |
8: 25,300,839 (GRCm39) |
V230A |
probably damaging |
Het |
| Arid4b |
T |
A |
13: 14,361,394 (GRCm39) |
|
probably benign |
Het |
| Cep250 |
T |
G |
2: 155,809,583 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
T |
A |
6: 8,014,540 (GRCm39) |
D955V |
probably damaging |
Het |
| Gm7676 |
A |
G |
8: 13,946,311 (GRCm39) |
|
noncoding transcript |
Het |
| Hao1 |
A |
G |
2: 134,396,120 (GRCm39) |
S45P |
probably damaging |
Het |
| Hars2 |
A |
T |
18: 36,920,645 (GRCm39) |
I163L |
probably benign |
Het |
| Iqgap1 |
T |
C |
7: 80,372,809 (GRCm39) |
Y1510C |
possibly damaging |
Het |
| Itga4 |
G |
A |
2: 79,152,978 (GRCm39) |
|
probably null |
Het |
| Kif18b |
G |
A |
11: 102,803,217 (GRCm39) |
H498Y |
probably benign |
Het |
| Kin |
C |
T |
2: 10,096,763 (GRCm39) |
T204M |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,139,807 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
G |
A |
12: 84,840,807 (GRCm39) |
T1009I |
probably benign |
Het |
| Mad1l1 |
A |
G |
5: 140,103,032 (GRCm39) |
S489P |
probably benign |
Het |
| Memo1 |
A |
G |
17: 74,524,103 (GRCm39) |
|
probably benign |
Het |
| Myocd |
T |
A |
11: 65,091,633 (GRCm39) |
H103L |
probably benign |
Het |
| Nhlrc2 |
T |
A |
19: 56,563,219 (GRCm39) |
F273I |
possibly damaging |
Het |
| Or10g7 |
T |
C |
9: 39,905,625 (GRCm39) |
I173T |
probably damaging |
Het |
| Or1e26 |
C |
A |
11: 73,480,209 (GRCm39) |
M118I |
probably benign |
Het |
| Or5p4 |
A |
T |
7: 107,680,480 (GRCm39) |
T160S |
probably benign |
Het |
| Pappa2 |
A |
C |
1: 158,642,110 (GRCm39) |
Y1315* |
probably null |
Het |
| Pdzk1ip1 |
C |
T |
4: 114,946,214 (GRCm39) |
P25S |
possibly damaging |
Het |
| Ppp2r5d |
A |
T |
17: 46,998,843 (GRCm39) |
V73D |
possibly damaging |
Het |
| Qars1 |
C |
T |
9: 108,388,738 (GRCm39) |
T266M |
probably damaging |
Het |
| Slc26a2 |
A |
C |
18: 61,331,332 (GRCm39) |
C700G |
possibly damaging |
Het |
| Zfp638 |
C |
A |
6: 83,924,829 (GRCm39) |
A724E |
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 |
|
|
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 |
Incidental Mutation