Incidental Mutation 'R0358:Psmd11'
| ID |
29953 |
| 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 |
038564-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R0358 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
80319441-80364074 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 80353510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017572]
[ENSMUST00000125591]
[ENSMUST00000129500]
[ENSMUST00000148895]
[ENSMUST00000172773]
[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: 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: 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
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 88.5%
|
| Validation Efficiency |
100% (64/64) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
G |
A |
17: 79,935,585 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
A |
T |
7: 120,143,939 (GRCm39) |
K1651N |
probably benign |
Het |
| Abcb1b |
T |
C |
5: 8,871,423 (GRCm39) |
S326P |
probably benign |
Het |
| Ache |
A |
G |
5: 137,288,635 (GRCm39) |
T114A |
probably benign |
Het |
| Akap3 |
T |
A |
6: 126,843,775 (GRCm39) |
V798D |
probably damaging |
Het |
| Ankle1 |
A |
G |
8: 71,860,189 (GRCm39) |
T256A |
probably damaging |
Het |
| Aqp4 |
T |
C |
18: 15,531,302 (GRCm39) |
N153S |
probably benign |
Het |
| Arhgap23 |
G |
A |
11: 97,354,414 (GRCm39) |
V265M |
probably damaging |
Het |
| Arhgef25 |
A |
T |
10: 127,020,322 (GRCm39) |
M326K |
probably damaging |
Het |
| Atp6v1c2 |
T |
C |
12: 17,334,961 (GRCm39) |
|
probably benign |
Het |
| Cars1 |
A |
T |
7: 143,142,219 (GRCm39) |
|
probably benign |
Het |
| Cep83 |
A |
T |
10: 94,555,593 (GRCm39) |
M96L |
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,231,449 (GRCm39) |
|
probably benign |
Het |
| Cnnm3 |
T |
A |
1: 36,560,303 (GRCm39) |
S608T |
probably damaging |
Het |
| Cul7 |
G |
A |
17: 46,974,670 (GRCm39) |
|
probably null |
Het |
| Dhrs2 |
G |
A |
14: 55,473,574 (GRCm39) |
V78M |
probably damaging |
Het |
| Dhx38 |
A |
T |
8: 110,279,094 (GRCm39) |
D1051E |
probably benign |
Het |
| Eftud2 |
A |
G |
11: 102,755,627 (GRCm39) |
|
probably benign |
Het |
| Egln3 |
T |
C |
12: 54,250,082 (GRCm39) |
E89G |
possibly damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,294,410 (GRCm39) |
|
probably null |
Het |
| Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,813,677 (GRCm39) |
N3332I |
possibly damaging |
Het |
| Gbp2b |
A |
T |
3: 142,312,550 (GRCm39) |
E311V |
probably damaging |
Het |
| Gcnt2 |
G |
T |
13: 41,014,329 (GRCm39) |
A167S |
probably damaging |
Het |
| Gm9797 |
A |
T |
10: 11,485,088 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch3 |
A |
G |
4: 133,305,215 (GRCm39) |
|
probably null |
Het |
| Gpr22 |
T |
C |
12: 31,759,981 (GRCm39) |
N47S |
probably benign |
Het |
| Il18rap |
A |
T |
1: 40,588,202 (GRCm39) |
H600L |
possibly damaging |
Het |
| Larp7 |
A |
G |
3: 127,340,737 (GRCm39) |
|
probably null |
Het |
| Mep1a |
A |
G |
17: 43,789,841 (GRCm39) |
Y490H |
possibly damaging |
Het |
| Mrgprh |
T |
A |
17: 13,096,237 (GRCm39) |
V159D |
probably damaging |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,402,231 (GRCm39) |
I64N |
probably damaging |
Het |
| Nup214 |
G |
A |
2: 31,894,312 (GRCm39) |
|
probably null |
Het |
| Or10d1b |
A |
G |
9: 39,613,297 (GRCm39) |
I256T |
possibly damaging |
Het |
| Or13a21 |
G |
T |
7: 139,998,856 (GRCm39) |
L277M |
probably damaging |
Het |
| Or2o1 |
T |
A |
11: 49,051,071 (GRCm39) |
C77S |
probably benign |
Het |
| Or4k15b |
A |
T |
14: 50,272,743 (GRCm39) |
L39Q |
probably damaging |
Het |
| Pef1 |
A |
G |
4: 130,021,180 (GRCm39) |
T245A |
probably damaging |
Het |
| Phrf1 |
A |
G |
7: 140,838,217 (GRCm39) |
|
probably benign |
Het |
| Ppig |
A |
G |
2: 69,573,942 (GRCm39) |
|
probably benign |
Het |
| Ppp1r8 |
G |
T |
4: 132,562,039 (GRCm39) |
F60L |
probably damaging |
Het |
| Ptk6 |
G |
T |
2: 180,840,315 (GRCm39) |
H230Q |
probably benign |
Het |
| Ptprd |
T |
C |
4: 75,863,226 (GRCm39) |
Y1496C |
probably damaging |
Het |
| Rhbdl3 |
G |
T |
11: 80,244,457 (GRCm39) |
W388L |
probably damaging |
Het |
| Rnf130 |
T |
A |
11: 49,962,109 (GRCm39) |
M185K |
probably benign |
Het |
| S100a13 |
A |
T |
3: 90,423,299 (GRCm39) |
I97F |
probably damaging |
Het |
| Slc22a16 |
T |
G |
10: 40,463,488 (GRCm39) |
|
probably null |
Het |
| Tcte1 |
A |
T |
17: 45,846,211 (GRCm39) |
T272S |
probably benign |
Het |
| Terf1 |
T |
C |
1: 15,876,062 (GRCm39) |
V54A |
possibly damaging |
Het |
| Tmem63a |
T |
A |
1: 180,783,988 (GRCm39) |
N189K |
probably benign |
Het |
| Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
| Trim66 |
G |
A |
7: 109,059,383 (GRCm39) |
Q954* |
probably null |
Het |
| Trpv4 |
A |
G |
5: 114,768,493 (GRCm39) |
F525S |
probably damaging |
Het |
| Ttll7 |
A |
G |
3: 146,649,871 (GRCm39) |
T634A |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,929,918 (GRCm39) |
D47G |
probably damaging |
Het |
| Ush2a |
T |
G |
1: 188,269,977 (GRCm39) |
N1741K |
possibly damaging |
Het |
| Wdr87-ps |
A |
T |
7: 29,231,636 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp451 |
T |
A |
1: 33,816,810 (GRCm39) |
H163L |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACTGGGGAAGTGGGGCACATT -3'
(R):5'- TTGCAAGTTAGGTTCACAACAGGAAGA -3'
Sequencing Primer
(F):5'- ttttcttctctttctcttttcctcc -3'
(R):5'- TGTTACAGTGCCCAATACTGAC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation