Incidental Mutation 'R0529:Psmd11'
| ID |
49066 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psmd11
|
| Ensembl Gene |
ENSMUSG00000017428 |
| Gene Name |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 |
| Synonyms |
C78232, 2810055C24Rik, P44.5, S9, 1810019E17Rik, 2610024G20Rik, 1700089D09Rik |
| MMRRC Submission |
038721-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R0529 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
80319441-80364074 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 80361515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017572]
[ENSMUST00000125591]
[ENSMUST00000129500]
[ENSMUST00000148895]
[ENSMUST00000172847]
[ENSMUST00000173938]
[ENSMUST00000174743]
|
| AlphaFold |
Q8BG32 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017572
|
| SMART Domains |
Protein: ENSMUSP00000017572
Gene: ENSMUSG00000017428
| Domain | Start | End | E-Value | Type |
|---|
|
PAM
|
143 |
320 |
1.6e-67 |
SMART |
|
PINT
|
321 |
404 |
4.34e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125591
|
| SMART Domains |
Protein: ENSMUSP00000134320
Gene: ENSMUSG00000017428
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PCI
|
21 |
92 |
2.1e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129500
|
| SMART Domains |
Protein: ENSMUSP00000133452
Gene: ENSMUSG00000017428
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PAM
|
1 |
68 |
8e-42 |
BLAST |
|
PINT
|
69 |
140 |
4.38e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147898
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148895
|
| SMART Domains |
Protein: ENSMUSP00000134083
Gene: ENSMUSG00000017428
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PAM
|
1 |
107 |
1e-74 |
BLAST |
|
PINT
|
108 |
191 |
4.34e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172847
|
| SMART Domains |
Protein: ENSMUSP00000134136
Gene: ENSMUSG00000017428
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3TXN|A
|
30 |
99 |
2e-22 |
PDB |
|
Blast:PAM
|
76 |
99 |
1e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173797
|
| SMART Domains |
Protein: ENSMUSP00000133739
Gene: ENSMUSG00000017428
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PAM
|
2 |
58 |
9e-33 |
BLAST |
|
PINT
|
59 |
142 |
4.34e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173938
|
| SMART Domains |
Protein: ENSMUSP00000133571
Gene: ENSMUSG00000017428
| Domain | Start | End | E-Value | Type |
|---|
|
PAM
|
143 |
320 |
1.6e-67 |
SMART |
|
PINT
|
321 |
404 |
4.34e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174743
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
97% (58/60) |
| 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. This gene encodes a member of the proteasome subunit S9 family that functions as a non-ATPase subunit of the 19S regulator and is phosphorylated by AMP-activated protein kinase. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
G |
A |
17: 9,211,228 (GRCm39) |
V126I |
probably benign |
Het |
| Aasdh |
A |
C |
5: 77,024,114 (GRCm39) |
Y179* |
probably null |
Het |
| Afp |
A |
G |
5: 90,652,254 (GRCm39) |
Y415C |
probably damaging |
Het |
| Aldh5a1 |
G |
T |
13: 25,097,856 (GRCm39) |
T393K |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,247,146 (GRCm39) |
S77P |
probably benign |
Het |
| Axl |
A |
G |
7: 25,486,712 (GRCm39) |
|
probably benign |
Het |
| Card10 |
A |
G |
15: 78,664,675 (GRCm39) |
|
probably null |
Het |
| Ccdc71l |
G |
A |
12: 32,429,251 (GRCm39) |
S90N |
probably damaging |
Het |
| Cebpa |
A |
T |
7: 34,819,624 (GRCm39) |
T261S |
probably benign |
Het |
| Cnmd |
T |
C |
14: 79,879,481 (GRCm39) |
E219G |
probably benign |
Het |
| Cntln |
T |
A |
4: 84,986,062 (GRCm39) |
L1010H |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,831,394 (GRCm39) |
|
probably benign |
Het |
| Cyld |
A |
G |
8: 89,456,387 (GRCm39) |
E479G |
probably benign |
Het |
| Dmp1 |
A |
G |
5: 104,360,092 (GRCm39) |
E256G |
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,822,846 (GRCm39) |
D1140G |
probably damaging |
Het |
| Drd2 |
A |
C |
9: 49,318,374 (GRCm39) |
M439L |
probably benign |
Het |
| Drd3 |
G |
A |
16: 43,643,077 (GRCm39) |
V438M |
probably damaging |
Het |
| Dyrk3 |
A |
G |
1: 131,057,858 (GRCm39) |
I70T |
probably benign |
Het |
| Fbxo38 |
T |
C |
18: 62,639,057 (GRCm39) |
K1082E |
probably damaging |
Het |
| Fbxw10 |
A |
C |
11: 62,750,671 (GRCm39) |
D428A |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,538,198 (GRCm39) |
|
probably benign |
Het |
| Fmnl2 |
A |
T |
2: 52,932,377 (GRCm39) |
I119F |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,610,834 (GRCm39) |
T995A |
probably damaging |
Het |
| Gda |
T |
A |
19: 21,402,901 (GRCm39) |
I82F |
probably damaging |
Het |
| Gpatch4 |
T |
A |
3: 87,958,583 (GRCm39) |
H22Q |
probably damaging |
Het |
| Gpr55 |
A |
G |
1: 85,869,225 (GRCm39) |
F119L |
probably benign |
Het |
| Gtf2i |
A |
T |
5: 134,290,723 (GRCm39) |
L425* |
probably null |
Het |
| Knstrn |
T |
A |
2: 118,661,461 (GRCm39) |
|
probably benign |
Het |
| Lipo2 |
T |
A |
19: 33,724,335 (GRCm39) |
I144L |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,377,463 (GRCm39) |
|
probably null |
Het |
| Mtmr14 |
T |
C |
6: 113,243,213 (GRCm39) |
|
probably benign |
Het |
| Nsmce4a |
A |
T |
7: 130,135,536 (GRCm39) |
S345R |
probably benign |
Het |
| Oacyl |
T |
A |
18: 65,875,290 (GRCm39) |
V385D |
probably damaging |
Het |
| Or6k8-ps1 |
G |
A |
1: 173,979,696 (GRCm39) |
A205T |
probably benign |
Het |
| Or8b52 |
A |
T |
9: 38,576,808 (GRCm39) |
C111S |
probably benign |
Het |
| Phlpp2 |
T |
C |
8: 110,603,603 (GRCm39) |
S55P |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,390,150 (GRCm39) |
V1422E |
possibly damaging |
Het |
| Plcd3 |
T |
G |
11: 102,971,013 (GRCm39) |
H181P |
probably benign |
Het |
| Psmc5 |
G |
A |
11: 106,151,990 (GRCm39) |
|
probably null |
Het |
| Rab39 |
T |
C |
9: 53,598,016 (GRCm39) |
Y83C |
probably damaging |
Het |
| Ric8a |
A |
G |
7: 140,440,806 (GRCm39) |
E93G |
probably damaging |
Het |
| Rtp3 |
T |
C |
9: 110,816,152 (GRCm39) |
E133G |
possibly damaging |
Het |
| Serpina1e |
A |
C |
12: 103,915,363 (GRCm39) |
L281R |
probably damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Tent5c |
A |
G |
3: 100,379,686 (GRCm39) |
Y357H |
probably benign |
Het |
| Tmem63a |
A |
T |
1: 180,788,659 (GRCm39) |
E332V |
probably benign |
Het |
| Tnk1 |
T |
C |
11: 69,745,990 (GRCm39) |
T312A |
probably damaging |
Het |
| Traf3ip3 |
G |
T |
1: 192,877,119 (GRCm39) |
|
probably benign |
Het |
| Trappc11 |
A |
G |
8: 47,980,014 (GRCm39) |
V174A |
possibly damaging |
Het |
| Vmn1r174 |
G |
A |
7: 23,453,622 (GRCm39) |
R96H |
probably benign |
Het |
| Vmn1r7 |
T |
A |
6: 57,001,450 (GRCm39) |
Y270F |
possibly damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,240,714 (GRCm39) |
V133A |
probably benign |
Het |
| Vmn2r18 |
T |
A |
5: 151,485,988 (GRCm39) |
E502V |
probably damaging |
Het |
| Wipf3 |
C |
A |
6: 54,462,348 (GRCm39) |
P186Q |
probably damaging |
Het |
| Yipf5 |
A |
T |
18: 40,345,215 (GRCm39) |
M55K |
probably benign |
Het |
| Zbtb7a |
G |
A |
10: 80,979,820 (GRCm39) |
V5M |
probably damaging |
Het |
| Zfy1 |
G |
T |
Y: 726,040 (GRCm39) |
S575Y |
probably damaging |
Het |
|
| Other mutations in Psmd11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Psmd11
|
APN |
11 |
80,361,210 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03383:Psmd11
|
APN |
11 |
80,360,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0358:Psmd11
|
UTSW |
11 |
80,353,510 (GRCm39) |
splice site |
probably benign |
|
|
R1127:Psmd11
|
UTSW |
11 |
80,362,410 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1936:Psmd11
|
UTSW |
11 |
80,319,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1985:Psmd11
|
UTSW |
11 |
80,336,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2356:Psmd11
|
UTSW |
11 |
80,319,530 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2994:Psmd11
|
UTSW |
11 |
80,351,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4898:Psmd11
|
UTSW |
11 |
80,329,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5173:Psmd11
|
UTSW |
11 |
80,351,566 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5234:Psmd11
|
UTSW |
11 |
80,319,566 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5794:Psmd11
|
UTSW |
11 |
80,362,318 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6169:Psmd11
|
UTSW |
11 |
80,351,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6266:Psmd11
|
UTSW |
11 |
80,336,767 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6275:Psmd11
|
UTSW |
11 |
80,329,458 (GRCm39) |
intron |
probably benign |
|
|
R7121:Psmd11
|
UTSW |
11 |
80,329,099 (GRCm39) |
nonsense |
probably null |
|
|
R7318:Psmd11
|
UTSW |
11 |
80,347,128 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7769:Psmd11
|
UTSW |
11 |
80,325,408 (GRCm39) |
intron |
probably benign |
|
|
R8250:Psmd11
|
UTSW |
11 |
80,336,752 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8733:Psmd11
|
UTSW |
11 |
80,325,342 (GRCm39) |
intron |
probably benign |
|
|
R8913:Psmd11
|
UTSW |
11 |
80,362,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9064:Psmd11
|
UTSW |
11 |
80,336,069 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1088:Psmd11
|
UTSW |
11 |
80,362,376 (GRCm39) |
frame shift |
probably null |
|
|
Z1176:Psmd11
|
UTSW |
11 |
80,319,474 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAACTTGGGCTCCGGGCTAC -3'
(R):5'- CCCAACTTTTCACAGCACGCCTT -3'
Sequencing Primer
(F):5'- CAGTTGTGTTGTTGGTATTTTGCTC -3'
(R):5'- ttctctctctctctctctctctc -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation