Incidental Mutation 'IGL01700:Psmc1'
| ID |
104447 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Psmc1
|
| Ensembl Gene |
ENSMUSG00000021178 |
| Gene Name |
protease (prosome, macropain) 26S subunit, ATPase 1 |
| Synonyms |
P26s4, Rpt2/S4, rpt2, S4 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01700
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
100076461-100089623 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 100079337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Histidine
at position 27
(P27H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021595
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021595]
|
| AlphaFold |
P62192 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021595
AA Change: P27H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021595
Gene: ENSMUSG00000021178
AA Change: P27H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
43 |
N/A |
INTRINSIC |
|
AAA
|
218 |
357 |
1.57e-23 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223078
|
| 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. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit and a 20S core alpha subunit interact specifically with the hepatitis B virus X protein, a protein critical to viral replication. This subunit also interacts with the adenovirus E1A protein and this interaction alters the activity of the proteasome. Finally, this subunit interacts with ataxin-7, suggesting a role for the proteasome in the development of spinocerebellar ataxia type 7, a progressive neurodegenerative disorder. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are embryonic lethal. Conditional null in cortical neurons causes neurodegeneration and premature death in several different models. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,319,549 (GRCm39) |
M1778L |
probably benign |
Het |
| Aldh6a1 |
C |
T |
12: 84,486,312 (GRCm39) |
C202Y |
probably damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,582,198 (GRCm39) |
T276A |
probably benign |
Het |
| Ankrd55 |
T |
C |
13: 112,517,702 (GRCm39) |
I556T |
probably benign |
Het |
| Aqp4 |
A |
G |
18: 15,532,922 (GRCm39) |
I57T |
probably benign |
Het |
| Atp1a1 |
T |
C |
3: 101,501,574 (GRCm39) |
D43G |
possibly damaging |
Het |
| Cyld |
G |
A |
8: 89,433,727 (GRCm39) |
R172H |
probably damaging |
Het |
| Ear2 |
A |
T |
14: 44,340,716 (GRCm39) |
R125* |
probably null |
Het |
| Efcab9 |
T |
C |
11: 32,477,451 (GRCm39) |
R24G |
probably damaging |
Het |
| F7 |
C |
A |
8: 13,078,685 (GRCm39) |
Q39K |
probably benign |
Het |
| Galntl6 |
A |
T |
8: 58,411,494 (GRCm39) |
|
probably benign |
Het |
| Kcnj5 |
A |
G |
9: 32,233,925 (GRCm39) |
V130A |
probably damaging |
Het |
| Magee2 |
A |
G |
X: 103,899,574 (GRCm39) |
I359T |
possibly damaging |
Het |
| Myh1 |
T |
G |
11: 67,102,238 (GRCm39) |
I843S |
probably damaging |
Het |
| Nfat5 |
T |
A |
8: 108,065,762 (GRCm39) |
M98K |
probably damaging |
Het |
| Nrip3 |
T |
A |
7: 109,361,074 (GRCm39) |
N200I |
possibly damaging |
Het |
| Or6c219 |
A |
T |
10: 129,781,810 (GRCm39) |
N40K |
probably damaging |
Het |
| Phkb |
A |
T |
8: 86,744,094 (GRCm39) |
Q581L |
probably benign |
Het |
| Plxdc2 |
T |
C |
2: 16,516,926 (GRCm39) |
V69A |
probably benign |
Het |
| Pou3f1 |
G |
T |
4: 124,552,650 (GRCm39) |
W384L |
probably damaging |
Het |
| Prrc2a |
G |
A |
17: 35,369,643 (GRCm39) |
S1890L |
possibly damaging |
Het |
| Pvr |
C |
A |
7: 19,643,157 (GRCm39) |
A359S |
probably benign |
Het |
| Rasal1 |
A |
T |
5: 120,814,882 (GRCm39) |
I711F |
probably benign |
Het |
| Ror1 |
C |
T |
4: 100,266,968 (GRCm39) |
A223V |
probably damaging |
Het |
| Slc22a16 |
A |
T |
10: 40,479,904 (GRCm39) |
I638L |
unknown |
Het |
| Slfn10-ps |
C |
T |
11: 82,919,938 (GRCm39) |
|
noncoding transcript |
Het |
| Sptbn4 |
A |
G |
7: 27,103,693 (GRCm39) |
L1176P |
probably damaging |
Het |
| Usp21 |
A |
T |
1: 171,110,975 (GRCm39) |
F421I |
probably damaging |
Het |
| Utp25 |
G |
A |
1: 192,800,573 (GRCm39) |
P416S |
probably damaging |
Het |
| Vmn1r61 |
T |
A |
7: 5,614,202 (GRCm39) |
R37S |
possibly damaging |
Het |
| Vps13a |
G |
A |
19: 16,722,221 (GRCm39) |
R364* |
probably null |
Het |
| Vps29 |
A |
G |
5: 122,500,930 (GRCm39) |
Y165C |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,742,195 (GRCm39) |
|
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,044,802 (GRCm39) |
D219G |
probably damaging |
Het |
| Xpo1 |
T |
C |
11: 23,226,422 (GRCm39) |
|
probably benign |
Het |
| Zfp831 |
C |
A |
2: 174,486,711 (GRCm39) |
T462K |
possibly damaging |
Het |
| Zswim5 |
T |
C |
4: 116,843,658 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Psmc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02445:Psmc1
|
APN |
12 |
100,081,087 (GRCm39) |
splice site |
probably benign |
|
|
IGL02605:Psmc1
|
APN |
12 |
100,085,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0018:Psmc1
|
UTSW |
12 |
100,082,951 (GRCm39) |
splice site |
probably benign |
|
|
R0018:Psmc1
|
UTSW |
12 |
100,082,951 (GRCm39) |
splice site |
probably benign |
|
|
R0427:Psmc1
|
UTSW |
12 |
100,085,487 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0534:Psmc1
|
UTSW |
12 |
100,086,389 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0931:Psmc1
|
UTSW |
12 |
100,085,341 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1937:Psmc1
|
UTSW |
12 |
100,081,102 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2405:Psmc1
|
UTSW |
12 |
100,086,362 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5063:Psmc1
|
UTSW |
12 |
100,081,734 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5293:Psmc1
|
UTSW |
12 |
100,081,731 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5346:Psmc1
|
UTSW |
12 |
100,086,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5542:Psmc1
|
UTSW |
12 |
100,086,399 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7513:Psmc1
|
UTSW |
12 |
100,081,773 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7993:Psmc1
|
UTSW |
12 |
100,081,824 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8489:Psmc1
|
UTSW |
12 |
100,089,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation