Incidental Mutation 'R3880:Psmd9'
| ID |
312776 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psmd9
|
| Ensembl Gene |
ENSMUSG00000029440 |
| Gene Name |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 9 |
| Synonyms |
P27, Bridge-1, 1500011J20Rik |
| MMRRC Submission |
040794-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
R3880 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
123366253-123388189 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 123372653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143635
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100729]
[ENSMUST00000197809]
|
| AlphaFold |
Q9CR00 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100729
|
| SMART Domains |
Protein: ENSMUSP00000098295
Gene: ENSMUSG00000029440
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
Blast:PDZ
|
20 |
58 |
7e-7 |
BLAST |
|
PDB:3WHL|H
|
23 |
99 |
2e-12 |
PDB |
|
PDZ
|
121 |
195 |
5.02e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133386
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181022
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197809
|
| SMART Domains |
Protein: ENSMUSP00000143635
Gene: ENSMUSG00000029440
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3WHL|H
|
1 |
53 |
9e-8 |
PDB |
|
PDZ
|
75 |
148 |
1.5e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199260
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200560
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
92% (35/38) |
| 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. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,584,959 (GRCm39) |
W872R |
probably damaging |
Het |
| Abcg3 |
T |
C |
5: 105,086,046 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,583,824 (GRCm39) |
Q4627L |
probably benign |
Het |
| Armc2 |
T |
C |
10: 41,839,721 (GRCm39) |
I415V |
possibly damaging |
Het |
| Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
| Bcas3 |
A |
G |
11: 85,261,948 (GRCm39) |
M107V |
probably benign |
Het |
| Ccdc43 |
T |
C |
11: 102,583,029 (GRCm39) |
|
probably null |
Het |
| Dtx4 |
A |
C |
19: 12,463,820 (GRCm39) |
S321A |
probably benign |
Het |
| Enox1 |
A |
T |
14: 77,848,826 (GRCm39) |
H379L |
possibly damaging |
Het |
| Evx1 |
A |
T |
6: 52,290,846 (GRCm39) |
D6V |
probably damaging |
Het |
| Fubp1 |
T |
A |
3: 151,926,133 (GRCm39) |
V286E |
probably damaging |
Het |
| Itgav |
T |
C |
2: 83,598,645 (GRCm39) |
V234A |
probably damaging |
Het |
| Khdc3 |
T |
C |
9: 73,010,872 (GRCm39) |
S241P |
possibly damaging |
Het |
| Lipc |
T |
A |
9: 70,727,800 (GRCm39) |
I16F |
probably damaging |
Het |
| Mael |
T |
C |
1: 166,064,437 (GRCm39) |
|
probably benign |
Het |
| Myo7b |
T |
G |
18: 32,102,567 (GRCm39) |
E1487A |
probably damaging |
Het |
| Or52a33 |
T |
G |
7: 103,288,831 (GRCm39) |
K172T |
probably benign |
Het |
| Osgin1 |
A |
G |
8: 120,168,191 (GRCm39) |
H6R |
probably benign |
Het |
| Otog |
C |
T |
7: 45,937,445 (GRCm39) |
T1718I |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,663,565 (GRCm39) |
E1002G |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,911,983 (GRCm39) |
N241S |
unknown |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Slc6a2 |
C |
A |
8: 93,716,846 (GRCm39) |
N337K |
probably damaging |
Het |
| Snx19 |
A |
T |
9: 30,373,688 (GRCm39) |
Q917L |
probably damaging |
Het |
| Srsf3 |
T |
C |
17: 29,255,257 (GRCm39) |
V14A |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,471,874 (GRCm39) |
V4729I |
probably benign |
Het |
| Syngap1 |
T |
A |
17: 27,172,038 (GRCm39) |
I82N |
probably damaging |
Het |
| Telo2 |
A |
T |
17: 25,325,807 (GRCm39) |
M407K |
probably damaging |
Het |
| Thsd7b |
G |
A |
1: 129,523,107 (GRCm39) |
G47D |
probably damaging |
Het |
| Tradd |
A |
T |
8: 105,987,287 (GRCm39) |
N6K |
possibly damaging |
Het |
| Trim30a |
C |
A |
7: 104,060,396 (GRCm39) |
C460F |
probably benign |
Het |
| Trip13 |
T |
C |
13: 74,066,597 (GRCm39) |
Y318C |
probably damaging |
Het |
| Ubfd1 |
T |
A |
7: 121,667,999 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,215,885 (GRCm39) |
|
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,857,226 (GRCm39) |
C101S |
possibly damaging |
Het |
| Zfp345 |
T |
C |
2: 150,314,075 (GRCm39) |
I487M |
possibly damaging |
Het |
|
| Other mutations in Psmd9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01976:Psmd9
|
APN |
5 |
123,372,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02354:Psmd9
|
APN |
5 |
123,386,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02361:Psmd9
|
APN |
5 |
123,386,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02947:Psmd9
|
APN |
5 |
123,384,278 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0318:Psmd9
|
UTSW |
5 |
123,372,712 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1491:Psmd9
|
UTSW |
5 |
123,366,410 (GRCm39) |
missense |
probably benign |
|
|
R1598:Psmd9
|
UTSW |
5 |
123,379,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2024:Psmd9
|
UTSW |
5 |
123,379,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3811:Psmd9
|
UTSW |
5 |
123,372,653 (GRCm39) |
unclassified |
probably benign |
|
|
R3816:Psmd9
|
UTSW |
5 |
123,372,653 (GRCm39) |
unclassified |
probably benign |
|
|
R3879:Psmd9
|
UTSW |
5 |
123,372,653 (GRCm39) |
unclassified |
probably benign |
|
|
R8004:Psmd9
|
UTSW |
5 |
123,379,998 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8143:Psmd9
|
UTSW |
5 |
123,366,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9337:Psmd9
|
UTSW |
5 |
123,386,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9758:Psmd9
|
UTSW |
5 |
123,372,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAACTGGTACCCACTGCAG -3'
(R):5'- AGCAGAAAAGCTTTGCAGTGC -3'
Sequencing Primer
(F):5'- CCCACTGCAGAGGGTAGCTATAAG -3'
(R):5'- AAGCTTTGCAGTGCTCAATG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation