Incidental Mutation 'IGL02361:Psmd9'
ID |
290494 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Psmd9
|
Ensembl Gene |
ENSMUSG00000029440 |
Gene Name |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 9 |
Synonyms |
P27, Bridge-1, 1500011J20Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
IGL02361
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
123366253-123388189 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 123386379 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Isoleucine
at position 175
(R175I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143635
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100729]
[ENSMUST00000121964]
[ENSMUST00000197809]
[ENSMUST00000198183]
|
AlphaFold |
Q9CR00 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100729
AA Change: R222I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000098295 Gene: ENSMUSG00000029440 AA Change: R222I
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 |
probably benign
Transcript: ENSMUST00000121964
|
SMART Domains |
Protein: ENSMUSP00000113309 Gene: ENSMUSG00000029442
Domain | Start | End | E-Value | Type |
coiled coil region
|
9 |
160 |
N/A |
INTRINSIC |
coiled coil region
|
243 |
299 |
N/A |
INTRINSIC |
WD40
|
437 |
478 |
1.58e-2 |
SMART |
WD40
|
481 |
525 |
6.16e0 |
SMART |
Blast:WD40
|
532 |
572 |
2e-15 |
BLAST |
Blast:WD40
|
584 |
623 |
5e-17 |
BLAST |
low complexity region
|
627 |
641 |
N/A |
INTRINSIC |
WD40
|
643 |
677 |
7.64e1 |
SMART |
Blast:WD40
|
686 |
742 |
1e-13 |
BLAST |
WD40
|
745 |
784 |
8.62e-4 |
SMART |
WD40
|
789 |
827 |
1.19e1 |
SMART |
WD40
|
832 |
871 |
5.97e-1 |
SMART |
WD40
|
880 |
923 |
1.23e2 |
SMART |
WD40
|
1030 |
1070 |
1.15e0 |
SMART |
low complexity region
|
1274 |
1285 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133386
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000197809
AA Change: R175I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143635 Gene: ENSMUSG00000029440 AA Change: R175I
Domain | Start | End | E-Value | Type |
PDB:3WHL|H
|
1 |
53 |
9e-8 |
PDB |
PDZ
|
75 |
148 |
1.5e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198183
AA Change: E41D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000142433 Gene: ENSMUSG00000029440 AA Change: E41D
Domain | Start | End | E-Value | Type |
Blast:PDZ
|
1 |
45 |
6e-16 |
BLAST |
|
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. 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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aqp1 |
A |
C |
6: 55,322,498 (GRCm39) |
L164F |
possibly damaging |
Het |
Bfsp1 |
T |
C |
2: 143,673,907 (GRCm39) |
E261G |
probably damaging |
Het |
Brinp2 |
A |
G |
1: 158,074,748 (GRCm39) |
C458R |
probably damaging |
Het |
Cacng3 |
T |
G |
7: 122,271,169 (GRCm39) |
M58R |
possibly damaging |
Het |
Cfap43 |
A |
T |
19: 47,885,852 (GRCm39) |
C254* |
probably null |
Het |
Cnga1 |
T |
C |
5: 72,774,061 (GRCm39) |
|
probably null |
Het |
Dis3 |
A |
T |
14: 99,317,148 (GRCm39) |
Y765* |
probably null |
Het |
Dpep1 |
T |
A |
8: 123,926,957 (GRCm39) |
S260R |
probably benign |
Het |
Elmod1 |
A |
G |
9: 53,838,842 (GRCm39) |
L106P |
probably damaging |
Het |
Fut10 |
A |
G |
8: 31,691,398 (GRCm39) |
Y81C |
probably damaging |
Het |
Fzd10 |
T |
A |
5: 128,678,932 (GRCm39) |
D217E |
possibly damaging |
Het |
Gap43 |
T |
C |
16: 42,160,871 (GRCm39) |
|
probably benign |
Het |
Gigyf1 |
T |
C |
5: 137,517,989 (GRCm39) |
|
probably benign |
Het |
Gpc5 |
C |
T |
14: 115,370,699 (GRCm39) |
R175* |
probably null |
Het |
Gpi-ps |
T |
C |
8: 5,690,896 (GRCm39) |
|
noncoding transcript |
Het |
Kcna1 |
C |
A |
6: 126,619,869 (GRCm39) |
Q150H |
probably damaging |
Het |
Lama5 |
A |
T |
2: 179,835,677 (GRCm39) |
C1225* |
probably null |
Het |
Lrrc25 |
A |
T |
8: 71,070,477 (GRCm39) |
D86V |
probably benign |
Het |
Madd |
A |
T |
2: 90,992,543 (GRCm39) |
V1043E |
probably benign |
Het |
Mov10 |
A |
T |
3: 104,711,437 (GRCm39) |
|
probably benign |
Het |
Mzb1 |
T |
A |
18: 35,782,250 (GRCm39) |
H46L |
possibly damaging |
Het |
Nek10 |
A |
T |
14: 14,843,856 (GRCm38) |
Q193L |
probably damaging |
Het |
Nos3 |
A |
T |
5: 24,572,621 (GRCm39) |
I187F |
probably damaging |
Het |
Or4c1 |
T |
A |
2: 89,133,526 (GRCm39) |
M137L |
probably benign |
Het |
Or5p53 |
T |
A |
7: 107,533,484 (GRCm39) |
Y252* |
probably null |
Het |
Or6c69c |
A |
G |
10: 129,911,143 (GRCm39) |
Y288C |
probably damaging |
Het |
Pgap1 |
T |
C |
1: 54,551,975 (GRCm39) |
T486A |
probably benign |
Het |
Prdm9 |
C |
T |
17: 15,783,109 (GRCm39) |
V58M |
probably damaging |
Het |
Prkd2 |
A |
G |
7: 16,581,583 (GRCm39) |
Y146C |
probably damaging |
Het |
Pxdn |
A |
G |
12: 30,049,188 (GRCm39) |
D618G |
probably damaging |
Het |
Rgs6 |
A |
T |
12: 82,665,393 (GRCm39) |
|
probably benign |
Het |
Rrm2 |
G |
T |
12: 24,761,438 (GRCm39) |
|
probably benign |
Het |
Shank3 |
T |
C |
15: 89,388,536 (GRCm39) |
V376A |
probably damaging |
Het |
Slc5a10 |
A |
G |
11: 61,610,666 (GRCm39) |
|
probably null |
Het |
Slfn3 |
A |
T |
11: 83,104,068 (GRCm39) |
Q313L |
possibly damaging |
Het |
Sptbn1 |
A |
T |
11: 30,060,783 (GRCm39) |
F2062L |
probably damaging |
Het |
Tbc1d10a |
T |
C |
11: 4,165,047 (GRCm39) |
V500A |
probably benign |
Het |
Tcea1 |
T |
C |
1: 4,966,570 (GRCm39) |
|
probably benign |
Het |
Thsd7a |
T |
C |
6: 12,348,192 (GRCm39) |
|
probably benign |
Het |
Tm9sf4 |
C |
T |
2: 153,029,570 (GRCm39) |
T173M |
probably benign |
Het |
Tmtc2 |
T |
C |
10: 105,107,387 (GRCm39) |
T709A |
probably benign |
Het |
Zfp385b |
T |
C |
2: 77,280,647 (GRCm39) |
E97G |
probably damaging |
Het |
Zim1 |
A |
T |
7: 6,685,873 (GRCm39) |
|
probably null |
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 |
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 |
|
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 |
|
Posted On |
2015-04-16 |