Incidental Mutation 'R8733:Psmd11'
| ID |
682577 |
| 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 |
068581-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R8733 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
80319441-80364074 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 80325342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017572]
[ENSMUST00000172615]
[ENSMUST00000172773]
[ENSMUST00000172847]
[ENSMUST00000173186]
[ENSMUST00000173565]
[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: ENSMUST00000172615
|
| SMART Domains |
Protein: ENSMUSP00000134129
Gene: ENSMUSG00000017428
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3TXN|A
|
37 |
106 |
1e-22 |
PDB |
|
Blast:PAM
|
83 |
106 |
2e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172773
|
| SMART Domains |
Protein: ENSMUSP00000134096
Gene: ENSMUSG00000017428
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3TXN|A
|
37 |
110 |
7e-24 |
PDB |
|
Blast:PAM
|
83 |
110 |
1e-7 |
BLAST |
|
| 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: ENSMUST00000173060
|
| SMART Domains |
Protein: ENSMUSP00000133509
Gene: ENSMUSG00000017428
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3TXN|A
|
29 |
98 |
2e-22 |
PDB |
|
Blast:PAM
|
75 |
98 |
1e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173186
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173565
|
| SMART Domains |
Protein: ENSMUSP00000134326
Gene: ENSMUSG00000017428
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3TXN|A
|
1 |
114 |
2e-50 |
PDB |
|
Blast:PAM
|
45 |
114 |
3e-31 |
BLAST |
|
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,249,627 (GRCm39) |
L1106P |
probably damaging |
Het |
| Alx3 |
C |
G |
3: 107,512,135 (GRCm39) |
P258A |
probably damaging |
Het |
| Bbs9 |
A |
G |
9: 22,582,128 (GRCm39) |
T607A |
probably benign |
Het |
| Catsperg1 |
A |
T |
7: 28,891,111 (GRCm39) |
V644E |
possibly damaging |
Het |
| Cep85 |
T |
C |
4: 133,875,472 (GRCm39) |
K499E |
possibly damaging |
Het |
| Chd5 |
A |
T |
4: 152,463,923 (GRCm39) |
H1464L |
probably damaging |
Het |
| Chrne |
A |
G |
11: 70,507,856 (GRCm39) |
L281P |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,379,472 (GRCm39) |
|
probably benign |
Het |
| Cpsf4l |
A |
G |
11: 113,600,279 (GRCm39) |
F13L |
possibly damaging |
Het |
| Dgcr8 |
T |
C |
16: 18,077,825 (GRCm39) |
I603V |
probably benign |
Het |
| Dhx16 |
A |
G |
17: 36,192,267 (GRCm39) |
D102G |
probably benign |
Het |
| Dnm1 |
G |
T |
2: 32,206,987 (GRCm39) |
D564E |
probably benign |
Het |
| Dync1li1 |
T |
A |
9: 114,534,178 (GRCm39) |
Y93N |
probably damaging |
Het |
| Esp31 |
A |
G |
17: 38,955,509 (GRCm39) |
I51V |
probably benign |
Het |
| Grap |
G |
T |
11: 61,562,517 (GRCm39) |
A163S |
possibly damaging |
Het |
| Hgs |
G |
A |
11: 120,360,954 (GRCm39) |
|
probably null |
Het |
| Icosl |
A |
T |
10: 77,909,697 (GRCm39) |
N214I |
probably damaging |
Het |
| Ints6 |
G |
A |
14: 62,934,297 (GRCm39) |
P737S |
probably benign |
Het |
| Irag1 |
C |
T |
7: 110,477,425 (GRCm39) |
V564M |
probably benign |
Het |
| Lima1 |
A |
G |
15: 99,678,699 (GRCm39) |
S581P |
probably damaging |
Het |
| Lrfn2 |
G |
A |
17: 49,403,824 (GRCm39) |
R649H |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,417,532 (GRCm39) |
T3493A |
possibly damaging |
Het |
| Mup4 |
A |
T |
4: 59,958,587 (GRCm39) |
N104K |
probably damaging |
Het |
| Nedd4 |
T |
C |
9: 72,633,766 (GRCm39) |
V424A |
possibly damaging |
Het |
| Or10ag55-ps1 |
A |
T |
2: 87,115,116 (GRCm39) |
I161F |
probably benign |
Het |
| Or6c88 |
T |
A |
10: 129,406,579 (GRCm39) |
D18E |
possibly damaging |
Het |
| Or8d23 |
A |
G |
9: 38,841,985 (GRCm39) |
I173V |
probably benign |
Het |
| Otop1 |
G |
A |
5: 38,457,117 (GRCm39) |
R292H |
probably damaging |
Het |
| Otop1 |
T |
A |
5: 38,457,796 (GRCm39) |
C518* |
probably null |
Het |
| Parp3 |
C |
T |
9: 106,353,150 (GRCm39) |
V9M |
probably benign |
Het |
| Pcdhb20 |
C |
T |
18: 37,638,437 (GRCm39) |
A321V |
probably damaging |
Het |
| Pik3c2g |
C |
T |
6: 139,714,426 (GRCm39) |
Q311* |
probably null |
Het |
| Pkd1l1 |
A |
T |
11: 8,883,657 (GRCm39) |
V855D |
|
Het |
| Polr2k |
T |
A |
15: 36,176,913 (GRCm39) |
D97E |
probably benign |
Het |
| Ralgapa2 |
G |
A |
2: 146,266,683 (GRCm39) |
T631M |
probably damaging |
Het |
| Ralgps1 |
C |
A |
2: 33,174,836 (GRCm39) |
|
probably null |
Het |
| Rbm18 |
A |
G |
2: 36,024,211 (GRCm39) |
S17P |
probably damaging |
Het |
| Rcc1 |
C |
A |
4: 132,065,515 (GRCm39) |
L49F |
probably benign |
Het |
| Rgma |
T |
C |
7: 73,059,036 (GRCm39) |
S63P |
possibly damaging |
Het |
| Scn1a |
T |
A |
2: 66,154,944 (GRCm39) |
I672L |
probably benign |
Het |
| Sema4c |
T |
C |
1: 36,591,954 (GRCm39) |
T270A |
probably damaging |
Het |
| Serac1 |
A |
G |
17: 6,100,303 (GRCm39) |
L479P |
probably damaging |
Het |
| Slc22a16 |
A |
G |
10: 40,450,061 (GRCm39) |
M187V |
probably benign |
Het |
| Slc41a3 |
A |
T |
6: 90,610,710 (GRCm39) |
T191S |
possibly damaging |
Het |
| Slu7 |
G |
A |
11: 43,334,167 (GRCm39) |
V398M |
probably damaging |
Het |
| Sphk1 |
A |
G |
11: 116,426,451 (GRCm39) |
T136A |
probably benign |
Het |
| Sqstm1 |
G |
T |
11: 50,101,493 (GRCm39) |
P31Q |
possibly damaging |
Het |
| Trappc11 |
A |
T |
8: 47,954,883 (GRCm39) |
V885D |
probably damaging |
Het |
| Trav6-1 |
T |
A |
14: 52,876,213 (GRCm39) |
Y44* |
probably null |
Het |
| Trav9-2 |
T |
A |
14: 53,828,755 (GRCm39) |
C42S |
probably damaging |
Het |
| Zc2hc1a |
A |
G |
3: 7,593,168 (GRCm39) |
T194A |
probably benign |
Het |
| Zfp729a |
A |
G |
13: 67,769,104 (GRCm39) |
V375A |
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 |
|
|
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 |
|
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'- CTGAGTTTGTTAGATTCTAAGAAGGAG -3'
(R):5'- CACCTATCCCAAGTCATTAATGATTTC -3'
Sequencing Primer
(F):5'- CATTTGCTCCTCTGTTAAGG -3'
(R):5'- TAACATTGGCCAGCTCAGTG -3'
|
| Posted On |
2021-10-07 |
Incidental Mutation