Incidental Mutation 'IGL00233:Psmd13'
| ID |
306830 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Psmd13
|
| Ensembl Gene |
ENSMUSG00000025487 |
| Gene Name |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 |
| Synonyms |
26S proteasome subunit p40.5, S11 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
IGL00233
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
140462307-140478555 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140477534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 311
(V311A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026560]
[ENSMUST00000026561]
[ENSMUST00000163610]
[ENSMUST00000164681]
[ENSMUST00000166889]
|
| AlphaFold |
Q9WVJ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026560
AA Change: V311A
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026560
Gene: ENSMUSG00000025487
AA Change: V311A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
14 |
N/A |
INTRINSIC |
|
PINT
|
263 |
356 |
2.26e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026561
|
| SMART Domains |
Protein: ENSMUSP00000026561
Gene: ENSMUSG00000025488
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX8
|
25 |
67 |
9.6e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125668
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000130462
AA Change: V147A
|
| SMART Domains |
Protein: ENSMUSP00000126160
Gene: ENSMUSG00000025487
AA Change: V147A
| Domain | Start | End | E-Value | Type |
|---|
|
PINT
|
100 |
189 |
6.59e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151644
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163610
AA Change: V284A
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000130580
Gene: ENSMUSG00000025487
AA Change: V284A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
14 |
N/A |
INTRINSIC |
|
PDB:4CR4|O
|
16 |
347 |
7e-44 |
PDB |
|
Blast:PINT
|
245 |
329 |
9e-26 |
BLAST |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000164681
|
| SMART Domains |
Protein: ENSMUSP00000132405
Gene: ENSMUSG00000025487
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
14 |
N/A |
INTRINSIC |
|
PDB:4CR4|O
|
16 |
184 |
1e-12 |
PDB |
|
low complexity region
|
217 |
232 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000165539
AA Change: V41A
|
| SMART Domains |
Protein: ENSMUSP00000130256
Gene: ENSMUSG00000025487
AA Change: V41A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PCI
|
1 |
63 |
7.7e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166889
|
| SMART Domains |
Protein: ENSMUSP00000126532
Gene: ENSMUSG00000025487
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
14 |
N/A |
INTRINSIC |
|
| 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 a non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aimp1 |
A |
T |
3: 132,382,904 (GRCm39) |
|
probably benign |
Het |
| Arpc5 |
A |
G |
1: 152,644,658 (GRCm39) |
I64V |
probably benign |
Het |
| C030048H21Rik |
G |
A |
2: 26,146,632 (GRCm39) |
R1227W |
probably damaging |
Het |
| Cacnb1 |
T |
C |
11: 97,913,190 (GRCm39) |
E21G |
possibly damaging |
Het |
| Catsper3 |
A |
G |
13: 55,946,635 (GRCm39) |
K111E |
possibly damaging |
Het |
| Cda |
T |
C |
4: 138,095,157 (GRCm39) |
Y33C |
probably damaging |
Het |
| Celsr3 |
A |
T |
9: 108,726,124 (GRCm39) |
R3118W |
probably damaging |
Het |
| Clvs1 |
G |
A |
4: 9,281,939 (GRCm39) |
G128R |
probably damaging |
Het |
| Col9a1 |
A |
G |
1: 24,224,306 (GRCm39) |
S163G |
unknown |
Het |
| Cyp4v3 |
T |
C |
8: 45,760,040 (GRCm39) |
D64G |
probably benign |
Het |
| Dst |
C |
A |
1: 34,290,920 (GRCm39) |
L837M |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,294,536 (GRCm39) |
I1349N |
probably damaging |
Het |
| Elob |
C |
A |
17: 24,043,954 (GRCm39) |
|
probably null |
Het |
| Glipr1 |
T |
A |
10: 111,821,555 (GRCm39) |
I216L |
probably benign |
Het |
| Gm3238 |
C |
T |
10: 77,607,126 (GRCm39) |
|
probably benign |
Het |
| Gm43638 |
C |
T |
5: 87,608,258 (GRCm39) |
R527H |
probably damaging |
Het |
| H2-M11 |
A |
G |
17: 36,858,445 (GRCm39) |
K80E |
probably benign |
Het |
| Htt |
A |
G |
5: 35,053,370 (GRCm39) |
|
probably null |
Het |
| Kif26a |
A |
G |
12: 112,124,066 (GRCm39) |
S224G |
probably damaging |
Het |
| Mgat5b |
T |
A |
11: 116,822,488 (GRCm39) |
M74K |
probably damaging |
Het |
| Ms4a7 |
A |
T |
19: 11,299,724 (GRCm39) |
V89D |
probably damaging |
Het |
| Nlrx1 |
G |
A |
9: 44,175,365 (GRCm39) |
T137I |
probably benign |
Het |
| Pcdhb12 |
A |
G |
18: 37,570,035 (GRCm39) |
T394A |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,340,982 (GRCm39) |
I151T |
probably damaging |
Het |
| Plcl1 |
T |
C |
1: 55,445,695 (GRCm39) |
V50A |
probably benign |
Het |
| Prkd2 |
T |
C |
7: 16,599,787 (GRCm39) |
F750S |
probably damaging |
Het |
| Rec8 |
C |
T |
14: 55,860,972 (GRCm39) |
Q334* |
probably null |
Het |
| Rfx7 |
G |
A |
9: 72,514,972 (GRCm39) |
V157I |
probably damaging |
Het |
| Sele |
G |
A |
1: 163,879,403 (GRCm39) |
C312Y |
probably damaging |
Het |
| Sorcs3 |
A |
G |
19: 48,736,758 (GRCm39) |
T694A |
probably benign |
Het |
| Tma16 |
G |
T |
8: 66,933,097 (GRCm39) |
Q95K |
probably benign |
Het |
| Vmn1r191 |
T |
C |
13: 22,362,890 (GRCm39) |
D288G |
probably damaging |
Het |
| Vmn1r231 |
A |
T |
17: 21,110,828 (GRCm39) |
I29N |
possibly damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,389 (GRCm39) |
L750* |
probably null |
Het |
|
| Other mutations in Psmd13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02265:Psmd13
|
APN |
7 |
140,462,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0326:Psmd13
|
UTSW |
7 |
140,477,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1163:Psmd13
|
UTSW |
7 |
140,477,367 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1667:Psmd13
|
UTSW |
7 |
140,470,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1721:Psmd13
|
UTSW |
7 |
140,463,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1867:Psmd13
|
UTSW |
7 |
140,463,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1993:Psmd13
|
UTSW |
7 |
140,478,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2070:Psmd13
|
UTSW |
7 |
140,477,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2844:Psmd13
|
UTSW |
7 |
140,477,653 (GRCm39) |
intron |
probably benign |
|
|
R2845:Psmd13
|
UTSW |
7 |
140,477,653 (GRCm39) |
intron |
probably benign |
|
|
R2846:Psmd13
|
UTSW |
7 |
140,477,653 (GRCm39) |
intron |
probably benign |
|
|
R2869:Psmd13
|
UTSW |
7 |
140,466,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2869:Psmd13
|
UTSW |
7 |
140,466,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2871:Psmd13
|
UTSW |
7 |
140,466,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2871:Psmd13
|
UTSW |
7 |
140,466,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4358:Psmd13
|
UTSW |
7 |
140,469,418 (GRCm39) |
intron |
probably benign |
|
|
R4973:Psmd13
|
UTSW |
7 |
140,466,766 (GRCm39) |
nonsense |
probably null |
|
|
R5197:Psmd13
|
UTSW |
7 |
140,474,374 (GRCm39) |
splice site |
probably null |
|
|
R6700:Psmd13
|
UTSW |
7 |
140,470,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8239:Psmd13
|
UTSW |
7 |
140,466,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8798:Psmd13
|
UTSW |
7 |
140,477,663 (GRCm39) |
nonsense |
probably null |
|
|
R9516:Psmd13
|
UTSW |
7 |
140,478,455 (GRCm39) |
missense |
|
|
|
Z1176:Psmd13
|
UTSW |
7 |
140,462,339 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation