Incidental Mutation 'R3879:Psmd9'
| ID |
308675 |
| 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 |
040793-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R3879 (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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
95% (38/40) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
T |
C |
3: 89,970,561 (GRCm39) |
|
probably benign |
Het |
| Aass |
G |
A |
6: 23,122,520 (GRCm39) |
H68Y |
probably damaging |
Het |
| Abcc8 |
T |
A |
7: 45,754,051 (GRCm39) |
K1588N |
possibly damaging |
Het |
| Calcoco1 |
T |
C |
15: 102,615,823 (GRCm39) |
D601G |
probably damaging |
Het |
| Ccdc175 |
C |
A |
12: 72,182,792 (GRCm39) |
R409I |
probably damaging |
Het |
| Ccnl1 |
A |
G |
3: 65,856,179 (GRCm39) |
V242A |
possibly damaging |
Het |
| Clasp2 |
T |
C |
9: 113,719,029 (GRCm39) |
F705L |
probably damaging |
Het |
| Cyp46a1 |
A |
G |
12: 108,324,389 (GRCm39) |
T389A |
probably benign |
Het |
| Eps8 |
A |
G |
6: 137,504,360 (GRCm39) |
|
probably benign |
Het |
| Gm9894 |
T |
C |
13: 67,912,916 (GRCm39) |
|
noncoding transcript |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Nup153 |
A |
T |
13: 46,837,436 (GRCm39) |
V1262E |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,092,780 (GRCm39) |
T1245A |
probably damaging |
Het |
| Or10ad1b |
C |
T |
15: 98,125,085 (GRCm39) |
C147Y |
probably damaging |
Het |
| Or5b121 |
A |
G |
19: 13,507,613 (GRCm39) |
Y236C |
probably damaging |
Het |
| Pcif1 |
G |
A |
2: 164,727,878 (GRCm39) |
G189D |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,375,594 (GRCm39) |
S1514P |
probably damaging |
Het |
| Pigu |
A |
T |
2: 155,141,063 (GRCm39) |
F276I |
probably damaging |
Het |
| Pramex1 |
T |
C |
X: 134,514,194 (GRCm39) |
H365R |
probably benign |
Het |
| Rasgrp2 |
A |
T |
19: 6,463,920 (GRCm39) |
Q539H |
probably benign |
Het |
| Rgs22 |
T |
G |
15: 36,107,051 (GRCm39) |
I112L |
possibly damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,696,969 (GRCm39) |
T786S |
probably benign |
Het |
| Sned1 |
A |
G |
1: 93,192,752 (GRCm39) |
|
probably benign |
Het |
| St7l |
G |
A |
3: 104,833,763 (GRCm39) |
V475I |
probably damaging |
Het |
| Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
| Top3a |
A |
G |
11: 60,634,765 (GRCm39) |
V713A |
possibly damaging |
Het |
| Trim16 |
G |
A |
11: 62,731,433 (GRCm39) |
G348S |
probably damaging |
Het |
| Tshz3 |
C |
T |
7: 36,470,962 (GRCm39) |
Q984* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,566,406 (GRCm39) |
|
probably null |
Het |
| Ubfd1 |
T |
A |
7: 121,667,999 (GRCm39) |
|
probably benign |
Het |
| Zfp37 |
A |
T |
4: 62,109,572 (GRCm39) |
Y497* |
probably null |
Het |
| Zfp462 |
G |
A |
4: 55,060,095 (GRCm39) |
C1207Y |
probably damaging |
Het |
| Zfp607b |
A |
G |
7: 27,403,476 (GRCm39) |
E644G |
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 |
|
|
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'- TAATTAAAACTGGTACCCACTGCAG -3'
(R):5'- AAAAGCTTTGCAGTGCTCAATG -3'
Sequencing Primer
(F):5'- CCCACTGCAGAGGGTAGCTATAAG -3'
(R):5'- AATGCTAATCACCCCCTGTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation