Incidental Mutation 'R2846:Psmd13'
| ID |
476722 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psmd13
|
| Ensembl Gene |
ENSMUSG00000025487 |
| Gene Name |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 |
| Synonyms |
26S proteasome subunit p40.5, S11 |
| MMRRC Submission |
040439-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R2846 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140462307-140478555 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to A
at 140477653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126532
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026560]
[ENSMUST00000026561]
[ENSMUST00000163610]
[ENSMUST00000164681]
[ENSMUST00000166889]
|
| AlphaFold |
Q9WVJ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026560
|
| SMART Domains |
Protein: ENSMUSP00000026560
Gene: ENSMUSG00000025487
| 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: P187T
|
| SMART Domains |
Protein: ENSMUSP00000126160
Gene: ENSMUSG00000025487
AA Change: P187T
| Domain | Start | End | E-Value | Type |
|---|
|
PINT
|
100 |
189 |
6.59e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151644
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163610
|
| SMART Domains |
Protein: ENSMUSP00000130580
Gene: ENSMUSG00000025487
| 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 |
probably benign
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 |
probably benign
Transcript: ENSMUST00000166889
|
| SMART Domains |
Protein: ENSMUSP00000126532
Gene: ENSMUSG00000025487
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
14 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165539
|
| SMART Domains |
Protein: ENSMUSP00000130256
Gene: ENSMUSG00000025487
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PCI
|
1 |
63 |
7.7e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Cdnf |
T |
A |
2: 3,514,165 (GRCm39) |
M1K |
probably null |
Het |
| Ddx4 |
T |
A |
13: 112,741,146 (GRCm39) |
K496M |
probably damaging |
Het |
| Dlg1 |
T |
C |
16: 31,682,015 (GRCm39) |
S779P |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,784,560 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
| Gal3st2c |
A |
T |
1: 93,924,122 (GRCm39) |
Q8L |
possibly damaging |
Het |
| Hsd3b1 |
T |
C |
3: 98,760,094 (GRCm39) |
E299G |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,245,746 (GRCm39) |
V2153A |
probably benign |
Het |
| Irs4 |
C |
A |
X: 140,507,336 (GRCm39) |
G287W |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,818,667 (GRCm39) |
I1570V |
probably benign |
Het |
| Kremen1 |
GG |
GGGCG |
11: 5,151,793 (GRCm39) |
|
probably benign |
Het |
| Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mindy4 |
T |
C |
6: 55,255,085 (GRCm39) |
V521A |
probably damaging |
Het |
| Or10al3 |
T |
C |
17: 38,011,714 (GRCm39) |
I51T |
probably damaging |
Het |
| Or1e25 |
A |
T |
11: 73,494,209 (GRCm39) |
T268S |
probably benign |
Het |
| Pdgfrb |
C |
T |
18: 61,197,088 (GRCm39) |
P175S |
probably benign |
Het |
| Pign |
C |
A |
1: 105,585,521 (GRCm39) |
L9F |
possibly damaging |
Het |
| Plekha1 |
G |
T |
7: 130,510,095 (GRCm39) |
W280C |
probably damaging |
Het |
| Ppfia3 |
C |
A |
7: 45,005,852 (GRCm39) |
R348L |
probably damaging |
Het |
| Prr12 |
G |
C |
7: 44,695,436 (GRCm39) |
S1343R |
unknown |
Het |
| Qpct |
A |
G |
17: 79,378,171 (GRCm39) |
T114A |
probably damaging |
Het |
| Sec24d |
A |
G |
3: 123,144,395 (GRCm39) |
D624G |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,623,792 (GRCm39) |
Y259C |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Smarcb1 |
C |
A |
10: 75,733,375 (GRCm39) |
R332L |
probably damaging |
Het |
| Ssh3 |
T |
C |
19: 4,315,324 (GRCm39) |
Y338C |
probably damaging |
Het |
| St18 |
T |
A |
1: 6,915,811 (GRCm39) |
C819S |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,732,230 (GRCm39) |
N180D |
possibly damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,299,280 (GRCm39) |
D49G |
probably damaging |
Het |
| Tmem204 |
G |
A |
17: 25,299,307 (GRCm39) |
H71Y |
probably benign |
Het |
| Vmn1r212 |
A |
G |
13: 23,068,262 (GRCm39) |
S24P |
probably damaging |
Het |
| Vmn2r6 |
A |
G |
3: 64,464,211 (GRCm39) |
S208P |
possibly damaging |
Het |
| Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
| Zmiz1 |
A |
G |
14: 25,646,099 (GRCm39) |
S259G |
probably benign |
Het |
|
| Other mutations in Psmd13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00233:Psmd13
|
APN |
7 |
140,477,534 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
|
| Posted On |
2017-05-15 |
Incidental Mutation