Incidental Mutation 'R3811:Psmd9'
ID |
275194 |
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 |
040767-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R3811 (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: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
97% (36/37) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl3 |
G |
T |
6: 34,776,664 (GRCm39) |
S385I |
probably damaging |
Het |
Arhgap28 |
G |
A |
17: 68,203,088 (GRCm39) |
P122S |
probably benign |
Het |
Arid2 |
T |
C |
15: 96,186,967 (GRCm39) |
V73A |
probably benign |
Het |
Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
Cacybp |
T |
C |
1: 160,031,222 (GRCm39) |
D202G |
probably benign |
Het |
Chsy3 |
C |
G |
18: 59,309,242 (GRCm39) |
P165R |
probably benign |
Het |
Creb3 |
C |
T |
4: 43,565,501 (GRCm39) |
Q227* |
probably null |
Het |
Crnkl1 |
C |
A |
2: 145,773,226 (GRCm39) |
R140L |
probably damaging |
Het |
Cyth4 |
A |
G |
15: 78,488,849 (GRCm39) |
E39G |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,168,481 (GRCm39) |
T481A |
probably benign |
Het |
Dock4 |
T |
A |
12: 40,829,123 (GRCm39) |
I1003N |
possibly damaging |
Het |
Galntl5 |
T |
C |
5: 25,391,178 (GRCm39) |
F26L |
probably benign |
Het |
Glrx5 |
C |
G |
12: 104,999,147 (GRCm39) |
C63W |
probably damaging |
Het |
Gm9602 |
T |
A |
14: 15,932,645 (GRCm39) |
I28N |
probably damaging |
Het |
Hivep2 |
A |
G |
10: 14,006,101 (GRCm39) |
T900A |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,525,328 (GRCm39) |
|
probably null |
Het |
Ighv1-24 |
G |
T |
12: 114,736,685 (GRCm39) |
L72I |
probably benign |
Het |
Ilvbl |
G |
A |
10: 78,414,869 (GRCm39) |
C244Y |
probably benign |
Het |
Kat7 |
A |
G |
11: 95,182,441 (GRCm39) |
|
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Lamc1 |
A |
T |
1: 153,138,454 (GRCm39) |
|
probably null |
Het |
Mall |
T |
A |
2: 127,550,774 (GRCm39) |
I129F |
probably damaging |
Het |
Mdn1 |
A |
T |
4: 32,693,506 (GRCm39) |
K1044* |
probably null |
Het |
Med23 |
A |
T |
10: 24,768,490 (GRCm39) |
R77* |
probably null |
Het |
Med23 |
G |
A |
10: 24,768,491 (GRCm39) |
|
probably null |
Het |
Metap2 |
A |
T |
10: 93,706,026 (GRCm39) |
L252* |
probably null |
Het |
Or8k28 |
A |
T |
2: 86,285,691 (GRCm39) |
V308E |
probably benign |
Het |
Psmd1 |
T |
A |
1: 86,060,437 (GRCm39) |
V828D |
probably damaging |
Het |
Rbbp5 |
T |
C |
1: 132,420,325 (GRCm39) |
V59A |
probably damaging |
Het |
Sco2 |
T |
C |
15: 89,257,882 (GRCm39) |
|
probably benign |
Het |
Slc32a1 |
G |
T |
2: 158,456,656 (GRCm39) |
C437F |
possibly damaging |
Het |
Spem2 |
T |
C |
11: 69,707,990 (GRCm39) |
E325G |
possibly damaging |
Het |
Steap4 |
A |
G |
5: 8,027,017 (GRCm39) |
T327A |
probably benign |
Het |
Tsc2 |
T |
C |
17: 24,848,011 (GRCm39) |
D70G |
probably benign |
Het |
Txndc5 |
T |
C |
13: 38,707,381 (GRCm39) |
K99E |
probably benign |
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 |
R3816:Psmd9
|
UTSW |
5 |
123,372,653 (GRCm39) |
unclassified |
probably benign |
|
R3879:Psmd9
|
UTSW |
5 |
123,372,653 (GRCm39) |
unclassified |
probably benign |
|
R3880: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'- AAAACTGGTACCCACTGCAGAG -3'
(R):5'- AGCAGAAAAGCTTTGCAGTGC -3'
Sequencing Primer
(F):5'- CCCACTGCAGAGGGTAGCTATAAG -3'
(R):5'- AAGCTTTGCAGTGCTCAATG -3'
|
Posted On |
2015-04-02 |