Incidental Mutation 'R6275:Psmd11'
ID |
529383 |
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 |
044445-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.965)
|
Stock # |
R6275 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
80319441-80364074 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 80329458 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133442
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017572]
[ENSMUST00000172615]
[ENSMUST00000172773]
[ENSMUST00000172847]
[ENSMUST00000174743]
[ENSMUST00000173565]
[ENSMUST00000173186]
[ENSMUST00000173938]
|
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 |
noncoding transcript
Transcript: ENSMUST00000147898
|
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 |
noncoding transcript
Transcript: ENSMUST00000172641
|
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: ENSMUST00000174743
|
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: ENSMUST00000173186
|
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.4%
|
Validation Efficiency |
98% (56/57) |
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 |
Abca7 |
T |
A |
10: 79,833,625 (GRCm39) |
L30H |
probably damaging |
Het |
Abcb6 |
T |
C |
1: 75,149,195 (GRCm39) |
|
probably null |
Het |
Acsbg1 |
T |
A |
9: 54,517,056 (GRCm39) |
M586L |
probably benign |
Het |
Ano6 |
A |
T |
15: 95,811,314 (GRCm39) |
Y159F |
probably damaging |
Het |
C1ql1 |
A |
G |
11: 102,830,575 (GRCm39) |
I254T |
probably damaging |
Het |
Ccdc81 |
T |
C |
7: 89,531,519 (GRCm39) |
D318G |
possibly damaging |
Het |
Ccr7 |
C |
T |
11: 99,036,489 (GRCm39) |
M144I |
probably damaging |
Het |
Cdca3 |
C |
T |
6: 124,809,627 (GRCm39) |
|
probably null |
Het |
Ces1h |
A |
T |
8: 94,099,274 (GRCm39) |
L93I |
probably benign |
Het |
Cntfr |
T |
C |
4: 41,663,216 (GRCm39) |
D197G |
possibly damaging |
Het |
Cyp2d12 |
C |
A |
15: 82,440,859 (GRCm39) |
P126T |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,862,248 (GRCm39) |
T2225A |
probably damaging |
Het |
Edrf1 |
A |
T |
7: 133,269,311 (GRCm39) |
N1147Y |
possibly damaging |
Het |
Eif1ad15 |
T |
C |
12: 88,287,995 (GRCm39) |
D86G |
possibly damaging |
Het |
Eif1ad16 |
T |
C |
12: 87,985,255 (GRCm39) |
N96S |
probably benign |
Het |
Ermap |
C |
T |
4: 119,035,747 (GRCm39) |
V414M |
probably damaging |
Het |
Fam13a |
A |
G |
6: 58,931,242 (GRCm39) |
I446T |
probably damaging |
Het |
Fgfbp3 |
T |
C |
19: 36,896,153 (GRCm39) |
H155R |
possibly damaging |
Het |
Folr1 |
T |
A |
7: 101,508,742 (GRCm39) |
N61I |
probably damaging |
Het |
Fsip1 |
T |
C |
2: 118,035,583 (GRCm39) |
I431V |
probably benign |
Het |
Gm5493 |
A |
T |
17: 22,969,043 (GRCm39) |
E74D |
probably benign |
Het |
H2-Oa |
A |
G |
17: 34,313,540 (GRCm39) |
D197G |
probably benign |
Het |
Hps1 |
T |
C |
19: 42,758,046 (GRCm39) |
E169G |
probably null |
Het |
Il17rc |
A |
T |
6: 113,457,308 (GRCm39) |
M372L |
probably benign |
Het |
Itga10 |
A |
G |
3: 96,565,501 (GRCm39) |
S1042G |
probably benign |
Het |
Jchain |
A |
T |
5: 88,669,212 (GRCm39) |
V147E |
probably damaging |
Het |
Laptm4b |
A |
G |
15: 34,283,473 (GRCm39) |
T211A |
probably benign |
Het |
Mal2 |
T |
C |
15: 54,435,035 (GRCm39) |
|
probably null |
Het |
Mov10l1 |
T |
A |
15: 88,910,823 (GRCm39) |
I1071N |
probably damaging |
Het |
Mpp2 |
T |
A |
11: 101,951,795 (GRCm39) |
Y401F |
probably damaging |
Het |
Myh15 |
A |
G |
16: 48,965,610 (GRCm39) |
T1172A |
probably benign |
Het |
Or51q1 |
T |
A |
7: 103,629,181 (GRCm39) |
S261T |
probably damaging |
Het |
Pcnx1 |
G |
T |
12: 81,965,381 (GRCm39) |
S516I |
probably benign |
Het |
Pidd1 |
C |
T |
7: 141,019,708 (GRCm39) |
A685T |
probably damaging |
Het |
Psg28 |
A |
C |
7: 18,164,365 (GRCm39) |
Y116D |
probably damaging |
Het |
Rapgefl1 |
T |
A |
11: 98,741,946 (GRCm39) |
Y637N |
probably damaging |
Het |
Rbm25 |
T |
A |
12: 83,691,206 (GRCm39) |
M66K |
probably damaging |
Het |
Rnf38 |
T |
A |
4: 44,152,408 (GRCm39) |
H52L |
probably benign |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGTGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
Sec62 |
A |
G |
3: 30,863,985 (GRCm39) |
Q89R |
probably damaging |
Het |
Serpina6 |
T |
A |
12: 103,614,979 (GRCm39) |
Q289L |
probably benign |
Het |
Sf3b2 |
A |
C |
19: 5,333,678 (GRCm39) |
I640S |
probably damaging |
Het |
Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
Slc26a11 |
T |
C |
11: 119,250,125 (GRCm39) |
F127L |
probably benign |
Het |
Spata31h1 |
T |
C |
10: 82,121,202 (GRCm39) |
D3936G |
probably damaging |
Het |
Stac3 |
T |
A |
10: 127,343,615 (GRCm39) |
Y252* |
probably null |
Het |
Stoml3 |
G |
A |
3: 53,414,927 (GRCm39) |
A240T |
probably damaging |
Het |
Tanc1 |
A |
T |
2: 59,673,854 (GRCm39) |
H1653L |
probably benign |
Het |
Tll1 |
A |
T |
8: 64,504,401 (GRCm39) |
L665* |
probably null |
Het |
Tnr |
A |
C |
1: 159,688,840 (GRCm39) |
Q434P |
probably damaging |
Het |
Tpgs1 |
C |
A |
10: 79,511,354 (GRCm39) |
D165E |
probably benign |
Het |
Tsc2 |
A |
G |
17: 24,819,394 (GRCm39) |
V1185A |
probably benign |
Het |
Tulp4 |
A |
G |
17: 6,249,011 (GRCm39) |
H203R |
probably damaging |
Het |
Txnl4a |
T |
A |
18: 80,261,980 (GRCm39) |
M72K |
possibly damaging |
Het |
Usp42 |
G |
A |
5: 143,700,727 (GRCm39) |
R1099W |
probably damaging |
Het |
Zfp292 |
G |
A |
4: 34,808,883 (GRCm39) |
A1387V |
possibly damaging |
Het |
Zfp994 |
A |
T |
17: 22,418,972 (GRCm39) |
L659* |
probably null |
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 |
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'- TGCCTACTTACTTCACTGTGGTAG -3'
(R):5'- GAGAAGAACTCTTTGAACAGCTC -3'
Sequencing Primer
(F):5'- AGTGTGTGGAAGGATGCTG -3'
(R):5'- CAGCTCAAAGTCCAATTTAAACTTGC -3'
|
Posted On |
2018-08-01 |