Incidental Mutation 'R5794:Psmd11'
| ID |
447130 |
| 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 |
043385-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R5794 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
80319441-80364074 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80362318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 125
(D125E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133452
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017572]
[ENSMUST00000125591]
[ENSMUST00000129500]
[ENSMUST00000148895]
[ENSMUST00000172847]
[ENSMUST00000173938]
[ENSMUST00000174743]
|
| AlphaFold |
Q8BG32 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017572
AA Change: D389E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000017572
Gene: ENSMUSG00000017428
AA Change: D389E
| 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
AA Change: D125E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000133452
Gene: ENSMUSG00000017428
AA Change: D125E
| 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
AA Change: D176E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134083
Gene: ENSMUSG00000017428
AA Change: D176E
| 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: D126E
|
| SMART Domains |
Protein: ENSMUSP00000133739
Gene: ENSMUSG00000017428
AA Change: D126E
| 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
AA Change: D389E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133571
Gene: ENSMUSG00000017428
AA Change: D389E
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aftph |
T |
C |
11: 20,676,955 (GRCm39) |
|
probably null |
Het |
| Ank2 |
T |
C |
3: 126,723,669 (GRCm39) |
N923S |
probably benign |
Het |
| Ano6 |
A |
T |
15: 95,792,405 (GRCm39) |
T76S |
probably benign |
Het |
| Carmil1 |
G |
T |
13: 24,276,533 (GRCm39) |
N204K |
probably damaging |
Het |
| Cep126 |
T |
G |
9: 8,103,440 (GRCm39) |
N190T |
possibly damaging |
Het |
| Clasrp |
A |
T |
7: 19,325,034 (GRCm39) |
D198E |
probably damaging |
Het |
| Cma1 |
T |
C |
14: 56,181,977 (GRCm39) |
T18A |
probably benign |
Het |
| Ece1 |
A |
G |
4: 137,683,844 (GRCm39) |
I565M |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,811,323 (GRCm39) |
F1135L |
probably damaging |
Het |
| Fbxw20 |
T |
C |
9: 109,052,358 (GRCm39) |
N325S |
probably damaging |
Het |
| Fbxw20 |
A |
T |
9: 109,062,668 (GRCm39) |
C53S |
possibly damaging |
Het |
| Gnb2 |
T |
C |
5: 137,526,961 (GRCm39) |
D203G |
probably benign |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hoxd9 |
T |
A |
2: 74,529,617 (GRCm39) |
F291Y |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,928,332 (GRCm39) |
S1004G |
probably benign |
Het |
| Irgm1 |
T |
C |
11: 48,757,064 (GRCm39) |
Y249C |
probably damaging |
Het |
| Kcnh3 |
A |
C |
15: 99,130,855 (GRCm39) |
I491L |
probably benign |
Het |
| Kctd10 |
G |
A |
5: 114,505,398 (GRCm39) |
R199W |
probably damaging |
Het |
| Klk1b4 |
A |
T |
7: 43,859,069 (GRCm39) |
N29I |
probably damaging |
Het |
| Klrc1 |
C |
T |
6: 129,652,317 (GRCm39) |
R188Q |
probably damaging |
Het |
| Krt32 |
C |
A |
11: 99,975,812 (GRCm39) |
C275F |
probably damaging |
Het |
| Krt73 |
T |
A |
15: 101,703,264 (GRCm39) |
T449S |
probably benign |
Het |
| Napepld |
T |
A |
5: 21,888,429 (GRCm39) |
S7C |
possibly damaging |
Het |
| Nfia |
G |
T |
4: 97,671,838 (GRCm39) |
V183L |
possibly damaging |
Het |
| Or5g27 |
T |
C |
2: 85,409,685 (GRCm39) |
V34A |
probably benign |
Het |
| Or6c3 |
A |
C |
10: 129,309,295 (GRCm39) |
I245L |
possibly damaging |
Het |
| Psma3 |
A |
G |
12: 71,037,271 (GRCm39) |
T111A |
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,392,914 (GRCm39) |
D523E |
probably benign |
Het |
| Rttn |
G |
T |
18: 89,013,693 (GRCm39) |
R454L |
probably benign |
Het |
| Serpine2 |
T |
C |
1: 79,799,156 (GRCm39) |
N33D |
probably benign |
Het |
| Six4 |
A |
T |
12: 73,159,124 (GRCm39) |
S271T |
possibly damaging |
Het |
| Smoc2 |
T |
A |
17: 14,589,310 (GRCm39) |
C260S |
possibly damaging |
Het |
| Snai2 |
A |
T |
16: 14,524,590 (GRCm39) |
Y32F |
probably benign |
Het |
| Tapt1 |
C |
T |
5: 44,334,476 (GRCm39) |
G505D |
probably benign |
Het |
| Thap12 |
T |
A |
7: 98,365,600 (GRCm39) |
D589E |
probably benign |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Vmn2r116 |
T |
C |
17: 23,604,942 (GRCm39) |
I85T |
probably damaging |
Het |
| Zfp592 |
G |
T |
7: 80,674,781 (GRCm39) |
V582L |
probably benign |
Het |
| Zfp827 |
T |
C |
8: 79,797,071 (GRCm39) |
W386R |
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 |
|
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'- TCCCTTTGAAGAATGTGTAAGGG -3'
(R):5'- GACGGTGTTCAGTGTCGAC -3'
Sequencing Primer
(F):5'- AGTCAGTGCTCTTAACCGCTGAG -3'
(R):5'- GTTCAGTGTCGACAGGCAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation