Incidental Mutation 'IGL03380:Psme3'
ID |
420673 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Psme3
|
Ensembl Gene |
ENSMUSG00000078652 |
Gene Name |
proteaseome (prosome, macropain) activator subunit 3 (PA28 gamma, Ki) |
Synonyms |
pa28g, REGgamma, PA28gamma, Ki |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.945)
|
Stock # |
IGL03380
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
101207039-101214363 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 101210852 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116996
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019470]
[ENSMUST00000142640]
[ENSMUST00000151385]
|
AlphaFold |
P61290 |
Predicted Effect |
probably null
Transcript: ENSMUST00000019470
|
SMART Domains |
Protein: ENSMUSP00000019470 Gene: ENSMUSG00000078652
Domain | Start | End | E-Value | Type |
Pfam:PA28_alpha
|
9 |
69 |
2.9e-30 |
PFAM |
Pfam:PA28_beta
|
108 |
252 |
3e-68 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127998
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131170
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142640
|
SMART Domains |
Protein: ENSMUSP00000118279 Gene: ENSMUSG00000078652
Domain | Start | End | E-Value | Type |
Pfam:PA28_alpha
|
31 |
95 |
8.4e-33 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000151385
|
SMART Domains |
Protein: ENSMUSP00000116996 Gene: ENSMUSG00000078652
Domain | Start | End | E-Value | Type |
Pfam:PA28_alpha
|
17 |
81 |
1.5e-32 |
PFAM |
Pfam:PA28_beta
|
116 |
203 |
5.6e-40 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the gamma subunit of the 11S regulator. Six gamma subunits combine to form a homohexameric ring. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012] PHENOTYPE: Homozygous null mutants are smaller than normal with a defect in cell proliferation and increased susceptibility to fungal infection. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,248,574 (GRCm39) |
N2774D |
probably benign |
Het |
Aldh1a2 |
T |
G |
9: 71,162,399 (GRCm39) |
Y149* |
probably null |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Arhgap23 |
A |
G |
11: 97,343,344 (GRCm39) |
D542G |
probably damaging |
Het |
Atp8a1 |
T |
C |
5: 67,889,529 (GRCm39) |
E582G |
probably benign |
Het |
C4b |
A |
T |
17: 34,959,260 (GRCm39) |
V438D |
probably benign |
Het |
Caps2 |
A |
G |
10: 112,036,601 (GRCm39) |
E345G |
probably benign |
Het |
Cdk19 |
C |
T |
10: 40,352,908 (GRCm39) |
P308L |
probably benign |
Het |
Drc3 |
A |
G |
11: 60,268,731 (GRCm39) |
E307G |
probably benign |
Het |
Dst |
G |
A |
1: 34,296,881 (GRCm39) |
A1041T |
probably damaging |
Het |
Elp2 |
T |
C |
18: 24,755,537 (GRCm39) |
V428A |
probably benign |
Het |
Eml5 |
G |
T |
12: 98,840,906 (GRCm39) |
|
probably benign |
Het |
Fam120b |
G |
A |
17: 15,623,396 (GRCm39) |
|
probably benign |
Het |
Fpr-rs6 |
G |
A |
17: 20,403,245 (GRCm39) |
L39F |
possibly damaging |
Het |
Fsd1 |
T |
C |
17: 56,302,456 (GRCm39) |
I300T |
probably benign |
Het |
Hsd17b6 |
T |
C |
10: 127,830,207 (GRCm39) |
|
probably null |
Het |
Hspa1a |
T |
C |
17: 35,189,253 (GRCm39) |
K550R |
probably benign |
Het |
Krba1 |
A |
G |
6: 48,380,387 (GRCm39) |
H37R |
possibly damaging |
Het |
Lama2 |
T |
C |
10: 26,926,261 (GRCm39) |
D2117G |
probably damaging |
Het |
Map4k2 |
T |
C |
19: 6,394,620 (GRCm39) |
F332S |
possibly damaging |
Het |
Mindy1 |
T |
C |
3: 95,198,329 (GRCm39) |
|
probably benign |
Het |
Nhsl1 |
T |
G |
10: 18,399,627 (GRCm39) |
Y284* |
probably null |
Het |
Or5b109 |
T |
A |
19: 13,212,365 (GRCm39) |
F250L |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,270,894 (GRCm39) |
T3220S |
probably damaging |
Het |
Pramel7 |
A |
T |
2: 87,321,716 (GRCm39) |
D106E |
probably benign |
Het |
Rsph1 |
T |
C |
17: 31,496,210 (GRCm39) |
E7G |
unknown |
Het |
Slc13a2 |
T |
C |
11: 78,289,908 (GRCm39) |
T469A |
probably benign |
Het |
Slc30a9 |
C |
T |
5: 67,473,054 (GRCm39) |
T46I |
probably benign |
Het |
Slc37a4 |
T |
G |
9: 44,311,320 (GRCm39) |
S204A |
probably benign |
Het |
Slc8b1 |
T |
C |
5: 120,657,800 (GRCm39) |
F88L |
probably damaging |
Het |
Smpd3 |
C |
T |
8: 106,986,291 (GRCm39) |
V504I |
probably benign |
Het |
Tbx4 |
A |
G |
11: 85,805,465 (GRCm39) |
N418S |
probably benign |
Het |
Tmem132c |
A |
G |
5: 127,613,506 (GRCm39) |
T470A |
probably benign |
Het |
Tmem207 |
A |
T |
16: 26,345,407 (GRCm39) |
C20S |
probably damaging |
Het |
Usp43 |
G |
A |
11: 67,766,142 (GRCm39) |
A761V |
possibly damaging |
Het |
Vmn1r191 |
C |
T |
13: 22,363,055 (GRCm39) |
S233N |
probably damaging |
Het |
Vmn2r58 |
T |
A |
7: 41,513,874 (GRCm39) |
E256D |
probably benign |
Het |
Zc3hav1 |
T |
C |
6: 38,313,493 (GRCm39) |
Y184C |
probably damaging |
Het |
|
Other mutations in Psme3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02474:Psme3
|
APN |
11 |
101,208,480 (GRCm39) |
missense |
probably benign |
0.09 |
R0432:Psme3
|
UTSW |
11 |
101,211,268 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0545:Psme3
|
UTSW |
11 |
101,210,730 (GRCm39) |
splice site |
probably benign |
|
R0747:Psme3
|
UTSW |
11 |
101,207,872 (GRCm39) |
missense |
probably benign |
0.04 |
R3889:Psme3
|
UTSW |
11 |
101,210,282 (GRCm39) |
missense |
probably damaging |
0.96 |
R4603:Psme3
|
UTSW |
11 |
101,208,435 (GRCm39) |
splice site |
probably null |
|
R4849:Psme3
|
UTSW |
11 |
101,207,907 (GRCm39) |
missense |
probably benign |
0.00 |
R8693:Psme3
|
UTSW |
11 |
101,211,422 (GRCm39) |
missense |
probably damaging |
0.98 |
R9235:Psme3
|
UTSW |
11 |
101,211,594 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9322:Psme3
|
UTSW |
11 |
101,211,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R9416:Psme3
|
UTSW |
11 |
101,211,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |