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)
|
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
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |