Incidental Mutation 'IGL02605:Psmc1'
| ID |
300225 |
| 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 # |
IGL02605
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
100076461-100089623 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 100085386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 249
(R249L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021595
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021595]
|
| AlphaFold |
P62192 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021595
AA Change: R249L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021595
Gene: ENSMUSG00000021178
AA Change: R249L
| 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: ENSMUST00000221308
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
T |
2: 103,547,602 (GRCm39) |
Y992F |
probably benign |
Het |
| Adgrg6 |
T |
A |
10: 14,342,976 (GRCm39) |
N324Y |
probably damaging |
Het |
| Ampd3 |
T |
C |
7: 110,394,965 (GRCm39) |
F305L |
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,588,388 (GRCm39) |
|
probably null |
Het |
| Api5 |
A |
G |
2: 94,260,064 (GRCm39) |
I64T |
possibly damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,860,399 (GRCm39) |
I1165T |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,214,623 (GRCm39) |
|
probably null |
Het |
| Capn3 |
T |
A |
2: 120,326,518 (GRCm39) |
I570N |
probably damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,418,990 (GRCm39) |
H232R |
possibly damaging |
Het |
| Clcn7 |
T |
C |
17: 25,365,792 (GRCm39) |
L156P |
possibly damaging |
Het |
| Cpa3 |
C |
A |
3: 20,276,376 (GRCm39) |
V286F |
probably benign |
Het |
| Csrnp3 |
G |
A |
2: 65,853,153 (GRCm39) |
C527Y |
probably damaging |
Het |
| Dock5 |
A |
T |
14: 68,065,887 (GRCm39) |
V372E |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,789,372 (GRCm39) |
L696P |
probably damaging |
Het |
| Fam91a1 |
T |
C |
15: 58,303,045 (GRCm39) |
|
probably benign |
Het |
| Gm12695 |
T |
A |
4: 96,650,988 (GRCm39) |
D155V |
probably null |
Het |
| Hspa4l |
A |
G |
3: 40,736,055 (GRCm39) |
I559V |
probably benign |
Het |
| Kdm1a |
G |
T |
4: 136,278,348 (GRCm39) |
|
probably benign |
Het |
| Lrrc8d |
A |
T |
5: 105,974,683 (GRCm39) |
|
noncoding transcript |
Het |
| Minpp1 |
A |
T |
19: 32,475,815 (GRCm39) |
Y316F |
possibly damaging |
Het |
| Neto2 |
T |
C |
8: 86,390,064 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,500,610 (GRCm39) |
D277E |
probably benign |
Het |
| Ola1 |
A |
G |
2: 72,972,644 (GRCm39) |
|
probably benign |
Het |
| Or4k48 |
A |
G |
2: 111,475,850 (GRCm39) |
V164A |
probably benign |
Het |
| Or51r1 |
T |
C |
7: 102,228,602 (GRCm39) |
I300T |
probably damaging |
Het |
| Or8c15 |
T |
A |
9: 38,120,532 (GRCm39) |
M61K |
probably damaging |
Het |
| Pam |
A |
G |
1: 97,768,064 (GRCm39) |
V722A |
possibly damaging |
Het |
| Pfdn6 |
T |
C |
17: 34,158,077 (GRCm39) |
Y90C |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,621,126 (GRCm39) |
H844L |
possibly damaging |
Het |
| Plk5 |
G |
A |
10: 80,198,896 (GRCm39) |
V422M |
probably damaging |
Het |
| Ptpro |
C |
T |
6: 137,357,316 (GRCm39) |
P269L |
probably benign |
Het |
| Ralgapa1 |
G |
T |
12: 55,759,450 (GRCm39) |
H1480Q |
possibly damaging |
Het |
| Rars1 |
G |
A |
11: 35,715,353 (GRCm39) |
|
probably benign |
Het |
| Rbm48 |
G |
A |
5: 3,640,600 (GRCm39) |
R260C |
possibly damaging |
Het |
| Smarcc1 |
C |
T |
9: 110,051,068 (GRCm39) |
H963Y |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,725,238 (GRCm39) |
E230G |
probably damaging |
Het |
| Spg11 |
A |
G |
2: 121,922,741 (GRCm39) |
S903P |
probably benign |
Het |
| Tas2r122 |
T |
C |
6: 132,688,572 (GRCm39) |
Y107C |
probably damaging |
Het |
| Tpm3 |
C |
A |
3: 89,995,753 (GRCm39) |
N204K |
probably benign |
Het |
| Wdr36 |
T |
C |
18: 32,985,044 (GRCm39) |
I450T |
possibly damaging |
Het |
|
| Other mutations in Psmc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01700:Psmc1
|
APN |
12 |
100,079,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02445:Psmc1
|
APN |
12 |
100,081,087 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation