Incidental Mutation 'IGL01976:Psmd9'
| ID |
182682 |
| 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: 0.151)
|
| Stock # |
IGL01976
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
123366253-123388189 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123372697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 60
(E60G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098295
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100729]
[ENSMUST00000197809]
|
| AlphaFold |
Q9CR00 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100729
AA Change: E60G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098295
Gene: ENSMUSG00000029440
AA Change: E60G
| 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 damaging
Transcript: ENSMUST00000197809
AA Change: E14G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143635
Gene: ENSMUSG00000029440
AA Change: E14G
| 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
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
T |
C |
6: 85,599,647 (GRCm39) |
V1960A |
possibly damaging |
Het |
| Asph |
A |
T |
4: 9,475,471 (GRCm39) |
N537K |
probably damaging |
Het |
| Bnip2 |
T |
C |
9: 69,908,116 (GRCm39) |
|
probably benign |
Het |
| Cc2d2a |
C |
A |
5: 43,840,457 (GRCm39) |
Q104K |
probably benign |
Het |
| Cd300ld |
A |
G |
11: 114,878,270 (GRCm39) |
S81P |
probably damaging |
Het |
| Clec4a1 |
T |
C |
6: 122,905,033 (GRCm39) |
|
probably benign |
Het |
| Dnajb8 |
T |
C |
6: 88,199,508 (GRCm39) |
S15P |
probably damaging |
Het |
| Erp27 |
C |
A |
6: 136,896,987 (GRCm39) |
V72L |
probably damaging |
Het |
| Gpr156 |
A |
G |
16: 37,799,395 (GRCm39) |
T131A |
probably damaging |
Het |
| Grk1 |
T |
C |
8: 13,465,993 (GRCm39) |
V479A |
probably damaging |
Het |
| H2bc1 |
T |
A |
13: 24,117,982 (GRCm39) |
D53V |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,289,237 (GRCm39) |
D3784G |
probably damaging |
Het |
| Irf2 |
A |
T |
8: 47,260,260 (GRCm39) |
K26M |
probably damaging |
Het |
| Irx6 |
C |
A |
8: 93,402,717 (GRCm39) |
C27* |
probably null |
Het |
| Izumo1r |
C |
T |
9: 14,812,975 (GRCm39) |
C99Y |
probably damaging |
Het |
| Klrb1a |
T |
A |
6: 128,595,072 (GRCm39) |
T132S |
probably benign |
Het |
| Mmp13 |
C |
T |
9: 7,278,974 (GRCm39) |
|
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,831,348 (GRCm39) |
R766Q |
probably damaging |
Het |
| Myt1 |
T |
C |
2: 181,437,532 (GRCm39) |
L81P |
probably damaging |
Het |
| Nfat5 |
G |
A |
8: 108,094,191 (GRCm39) |
V793I |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 91,030,596 (GRCm39) |
V108A |
possibly damaging |
Het |
| Omd |
T |
A |
13: 49,743,119 (GRCm39) |
Y56* |
probably null |
Het |
| Or4b1d |
A |
G |
2: 89,969,268 (GRCm39) |
S72P |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,579,363 (GRCm39) |
N316S |
probably benign |
Het |
| Rab11fip1 |
T |
C |
8: 27,642,825 (GRCm39) |
E658G |
possibly damaging |
Het |
| Smchd1 |
T |
A |
17: 71,701,720 (GRCm39) |
K1091* |
probably null |
Het |
| Supt16 |
A |
T |
14: 52,419,764 (GRCm39) |
N111K |
possibly damaging |
Het |
| Trrap |
A |
G |
5: 144,793,799 (GRCm39) |
T3666A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,616,095 (GRCm39) |
D8289G |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,643,438 (GRCm39) |
S4267T |
probably benign |
Het |
| Usp50 |
T |
A |
2: 126,551,386 (GRCm39) |
E31V |
probably benign |
Het |
|
| Other mutations in Psmd9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation