Incidental Mutation 'IGL00435:Psmd11'
ID |
4533 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.961)
|
Stock # |
IGL00435
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
80319441-80364074 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 80361210 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 347
(I347N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133571
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017572]
[ENSMUST00000125591]
[ENSMUST00000129500]
[ENSMUST00000148895]
[ENSMUST00000172847]
[ENSMUST00000173938]
[ENSMUST00000174743]
|
AlphaFold |
Q8BG32 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017572
AA Change: I347N
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000017572 Gene: ENSMUSG00000017428 AA Change: I347N
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 |
possibly damaging
Transcript: ENSMUST00000148895
AA Change: I134N
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000134083 Gene: ENSMUSG00000017428 AA Change: I134N
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 |
unknown
Transcript: ENSMUST00000173797
AA Change: I84N
|
SMART Domains |
Protein: ENSMUSP00000133739 Gene: ENSMUSG00000017428 AA Change: I84N
Domain | Start | End | E-Value | Type |
Blast:PAM
|
2 |
58 |
9e-33 |
BLAST |
PINT
|
59 |
142 |
4.34e-23 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173938
AA Change: I347N
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000133571 Gene: ENSMUSG00000017428 AA Change: I347N
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 |
|
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. 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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap28 |
A |
T |
17: 68,152,796 (GRCm39) |
D657E |
probably damaging |
Het |
Cd200l1 |
A |
T |
16: 45,264,483 (GRCm39) |
L25Q |
probably damaging |
Het |
Cd68 |
T |
C |
11: 69,556,676 (GRCm39) |
T44A |
probably damaging |
Het |
Cecr2 |
C |
T |
6: 120,733,678 (GRCm39) |
T555M |
probably damaging |
Het |
Cep170b |
A |
G |
12: 112,701,628 (GRCm39) |
Q169R |
probably damaging |
Het |
Cs |
T |
C |
10: 128,195,912 (GRCm39) |
F374L |
probably damaging |
Het |
Dpy19l1 |
T |
C |
9: 24,393,226 (GRCm39) |
E181G |
probably damaging |
Het |
Efcab12 |
T |
C |
6: 115,800,625 (GRCm39) |
T133A |
probably benign |
Het |
Esr2 |
G |
A |
12: 76,180,653 (GRCm39) |
R423W |
probably damaging |
Het |
Eya4 |
T |
C |
10: 23,034,995 (GRCm39) |
Y120C |
probably benign |
Het |
Fbxw8 |
A |
G |
5: 118,206,202 (GRCm39) |
M582T |
probably benign |
Het |
Fcgbpl1 |
A |
T |
7: 27,863,953 (GRCm39) |
D2575V |
probably damaging |
Het |
Ghsr |
A |
G |
3: 27,426,532 (GRCm39) |
E196G |
possibly damaging |
Het |
Gm10024 |
G |
A |
10: 77,547,295 (GRCm39) |
|
probably benign |
Het |
Gpr65 |
A |
G |
12: 98,241,815 (GRCm39) |
E156G |
probably damaging |
Het |
Gtf3c3 |
T |
C |
1: 54,466,694 (GRCm39) |
Y249C |
possibly damaging |
Het |
H2-T23 |
G |
A |
17: 36,342,673 (GRCm39) |
A155V |
probably damaging |
Het |
Hadha |
A |
G |
5: 30,327,171 (GRCm39) |
S556P |
probably benign |
Het |
Hdac7 |
T |
A |
15: 97,707,376 (GRCm39) |
K187N |
probably damaging |
Het |
Inpp5j |
T |
C |
11: 3,452,255 (GRCm39) |
I332V |
probably benign |
Het |
Kank1 |
A |
G |
19: 25,407,600 (GRCm39) |
D1198G |
probably benign |
Het |
Kdr |
A |
G |
5: 76,129,410 (GRCm39) |
L159P |
probably damaging |
Het |
Me2 |
T |
C |
18: 73,903,713 (GRCm39) |
E585G |
probably benign |
Het |
Nfu1 |
A |
T |
6: 86,992,577 (GRCm39) |
T64S |
probably damaging |
Het |
Nsd3 |
A |
G |
8: 26,166,728 (GRCm39) |
D632G |
probably benign |
Het |
Pcna |
T |
C |
2: 132,093,852 (GRCm39) |
D97G |
probably benign |
Het |
Pgm2 |
A |
G |
5: 64,265,612 (GRCm39) |
|
probably benign |
Het |
Phactr1 |
C |
A |
13: 43,110,122 (GRCm39) |
R2S |
probably damaging |
Het |
Rad21l |
T |
C |
2: 151,495,436 (GRCm39) |
T416A |
probably benign |
Het |
Ruvbl2 |
A |
T |
7: 45,074,596 (GRCm39) |
S181T |
probably benign |
Het |
Rxrb |
A |
G |
17: 34,253,049 (GRCm39) |
T109A |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,490,494 (GRCm39) |
Y3785F |
probably damaging |
Het |
Sec16a |
T |
C |
2: 26,320,113 (GRCm39) |
T1442A |
probably benign |
Het |
Slc6a14 |
T |
A |
X: 21,600,363 (GRCm39) |
|
probably benign |
Het |
Slco2b1 |
G |
A |
7: 99,309,259 (GRCm39) |
Q691* |
probably null |
Het |
Tent5c |
A |
G |
3: 100,380,672 (GRCm39) |
V28A |
probably damaging |
Het |
Them5 |
A |
G |
3: 94,253,496 (GRCm39) |
T169A |
possibly damaging |
Het |
Trav13-2 |
T |
C |
14: 53,872,688 (GRCm39) |
F55L |
possibly damaging |
Het |
Tst |
A |
T |
15: 78,289,661 (GRCm39) |
S125T |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,630,868 (GRCm39) |
T14179A |
probably benign |
Het |
Vps37b |
A |
G |
5: 124,148,850 (GRCm39) |
Y62H |
probably damaging |
Het |
|
Other mutations in Psmd11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R0529:Psmd11
|
UTSW |
11 |
80,361,515 (GRCm39) |
unclassified |
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 |
|
|
Posted On |
2012-04-20 |