Incidental Mutation 'R2844:Psmd13'
| ID |
476713 |
| 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 |
040437-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R2844 (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: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (42/43) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
G |
A |
3: 59,843,830 (GRCm39) |
V175I |
probably benign |
Het |
| Abcb1a |
A |
T |
5: 8,736,164 (GRCm39) |
I186F |
probably benign |
Het |
| Afg3l1 |
T |
C |
8: 124,221,678 (GRCm39) |
|
probably benign |
Het |
| Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
| Ccdc50 |
A |
G |
16: 27,225,479 (GRCm39) |
E64G |
probably damaging |
Het |
| Celsr3 |
G |
T |
9: 108,706,507 (GRCm39) |
G997W |
probably damaging |
Het |
| Chd8 |
C |
T |
14: 52,441,952 (GRCm39) |
E2138K |
possibly damaging |
Het |
| Col19a1 |
C |
T |
1: 24,598,762 (GRCm39) |
G77E |
unknown |
Het |
| Dnaaf11 |
A |
G |
15: 66,319,525 (GRCm39) |
|
probably benign |
Het |
| Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
| Fzr1 |
G |
T |
10: 81,205,252 (GRCm39) |
T159K |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gna13 |
T |
C |
11: 109,253,951 (GRCm39) |
I51T |
probably damaging |
Het |
| Gorab |
A |
G |
1: 163,224,375 (GRCm39) |
|
probably null |
Het |
| Hydin |
T |
C |
8: 111,245,746 (GRCm39) |
V2153A |
probably benign |
Het |
| Ints6 |
A |
G |
14: 62,942,275 (GRCm39) |
V486A |
probably damaging |
Het |
| Irx2 |
A |
G |
13: 72,779,709 (GRCm39) |
K331R |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
| Med14 |
A |
T |
X: 12,550,235 (GRCm39) |
H684Q |
probably benign |
Het |
| Or1e25 |
A |
T |
11: 73,494,209 (GRCm39) |
T268S |
probably benign |
Het |
| Pde5a |
T |
C |
3: 122,645,357 (GRCm39) |
L755P |
probably damaging |
Het |
| Pex14 |
A |
T |
4: 149,047,968 (GRCm39) |
I203N |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,168,657 (GRCm39) |
E691G |
probably damaging |
Het |
| Plekha1 |
G |
T |
7: 130,510,095 (GRCm39) |
W280C |
probably damaging |
Het |
| Pnoc |
A |
T |
14: 65,642,284 (GRCm39) |
F160I |
probably damaging |
Het |
| Ppfia3 |
C |
A |
7: 45,005,852 (GRCm39) |
R348L |
probably damaging |
Het |
| Ppil6 |
A |
T |
10: 41,377,689 (GRCm39) |
|
probably benign |
Het |
| Psme4 |
T |
C |
11: 30,795,173 (GRCm39) |
|
probably benign |
Het |
| Rfx3 |
T |
C |
19: 27,784,186 (GRCm39) |
|
probably benign |
Het |
| Rnase11 |
A |
G |
14: 51,287,227 (GRCm39) |
L109S |
probably damaging |
Het |
| Rngtt |
A |
G |
4: 33,368,678 (GRCm39) |
T404A |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,187,421 (GRCm39) |
|
probably null |
Het |
| Sema5b |
A |
G |
16: 35,480,301 (GRCm39) |
N656S |
probably damaging |
Het |
| Ssh3 |
T |
C |
19: 4,315,324 (GRCm39) |
Y338C |
probably damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,299,280 (GRCm39) |
D49G |
probably damaging |
Het |
| Thbs1 |
C |
T |
2: 117,948,109 (GRCm39) |
T423I |
probably benign |
Het |
| Ttc17 |
A |
T |
2: 94,206,419 (GRCm39) |
Y243* |
probably null |
Het |
| Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
| Zfp648 |
A |
T |
1: 154,080,881 (GRCm39) |
K347* |
probably null |
Het |
| Zfp84 |
T |
G |
7: 29,474,758 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
| Predicted Primers |
|
| Posted On |
2017-05-15 |
Incidental Mutation