Incidental Mutation 'R7647:Psmc5'
| ID |
590601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psmc5
|
| Ensembl Gene |
ENSMUSG00000020708 |
| Gene Name |
protease (prosome, macropain) 26S subunit, ATPase 5 |
| Synonyms |
mSUG1, Rpt6 |
| MMRRC Submission |
045725-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R7647 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106147011-106153938 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106152433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 150
(M150T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021049]
[ENSMUST00000021052]
[ENSMUST00000106843]
[ENSMUST00000133131]
[ENSMUST00000140255]
|
| AlphaFold |
P62196 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021049
AA Change: M150T
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000021049
Gene: ENSMUSG00000020708
AA Change: M150T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
|
AAA
|
182 |
321 |
6.96e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021052
|
| SMART Domains |
Protein: ENSMUSP00000021052
Gene: ENSMUSG00000078619
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
131 |
N/A |
INTRINSIC |
|
Blast:KISc
|
136 |
287 |
2e-36 |
BLAST |
|
SWIB
|
307 |
386 |
1.3e-21 |
SMART |
|
Blast:MYSc
|
468 |
514 |
5e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106843
|
| SMART Domains |
Protein: ENSMUSP00000102456
Gene: ENSMUSG00000078619
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
75 |
84 |
N/A |
INTRINSIC |
|
Blast:KISc
|
89 |
240 |
1e-36 |
BLAST |
|
SWIB
|
260 |
339 |
1.3e-21 |
SMART |
|
Blast:MYSc
|
421 |
467 |
5e-11 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133131
AA Change: M150T
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138057
Gene: ENSMUSG00000020708
AA Change: M150T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
|
AAA
|
182 |
321 |
6.96e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140255
|
| SMART Domains |
Protein: ENSMUSP00000133629
Gene: ENSMUSG00000078619
| Domain | Start | End | E-Value | Type |
|---|
|
SWIB
|
29 |
108 |
1.3e-21 |
SMART |
|
Blast:MYSc
|
190 |
236 |
6e-12 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (43/43) |
| 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. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. In addition to participation in proteasome functions, this subunit may participate in transcriptional regulation since it has been shown to interact with the thyroid hormone receptor and retinoid X receptor-alpha. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for a phospho-mimetic allele exhibit absence of cocaine locomotor activity sensitization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
C |
A |
12: 18,564,803 (GRCm39) |
T22K |
possibly damaging |
Het |
| Abca7 |
G |
T |
10: 79,836,656 (GRCm39) |
M344I |
probably benign |
Het |
| Alg14 |
T |
C |
3: 121,155,334 (GRCm39) |
S185P |
probably damaging |
Het |
| Atg13 |
A |
T |
2: 91,519,006 (GRCm39) |
H146Q |
possibly damaging |
Het |
| Atmin |
T |
G |
8: 117,684,661 (GRCm39) |
F774V |
possibly damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,395,863 (GRCm39) |
D782G |
probably damaging |
Het |
| Ccdc86 |
A |
G |
19: 10,926,363 (GRCm39) |
S79P |
unknown |
Het |
| Cd180 |
A |
T |
13: 102,842,451 (GRCm39) |
E499V |
probably damaging |
Het |
| Cd24a |
C |
T |
10: 43,458,747 (GRCm39) |
H73Y |
unknown |
Het |
| Cdh17 |
C |
T |
4: 11,814,698 (GRCm39) |
P751L |
probably damaging |
Het |
| Chil3 |
A |
G |
3: 106,056,122 (GRCm39) |
L344S |
possibly damaging |
Het |
| Cspp1 |
A |
G |
1: 10,206,162 (GRCm39) |
D1129G |
probably benign |
Het |
| Cyth1 |
C |
A |
11: 118,068,114 (GRCm39) |
V288L |
probably benign |
Het |
| Ddx19a |
A |
T |
8: 111,703,259 (GRCm39) |
|
probably null |
Het |
| Dpysl4 |
T |
A |
7: 138,679,689 (GRCm39) |
Y520N |
possibly damaging |
Het |
| Eif4b |
T |
A |
15: 101,997,129 (GRCm39) |
M249K |
unknown |
Het |
| Enam |
G |
A |
5: 88,650,884 (GRCm39) |
D798N |
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,839,470 (GRCm39) |
K428E |
probably benign |
Het |
| Gldc |
A |
G |
19: 30,096,067 (GRCm39) |
V648A |
probably damaging |
Het |
| Gm7995 |
A |
G |
14: 42,133,308 (GRCm39) |
I62V |
possibly damaging |
Het |
| Ice1 |
A |
G |
13: 70,737,916 (GRCm39) |
V2177A |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,404,747 (GRCm39) |
S1330T |
probably benign |
Het |
| Mon2 |
G |
T |
10: 122,841,931 (GRCm39) |
P1553Q |
probably benign |
Het |
| Mylk |
G |
C |
16: 34,699,894 (GRCm39) |
S419T |
probably benign |
Het |
| Nphs1 |
T |
A |
7: 30,181,390 (GRCm39) |
|
probably null |
Het |
| Nsd1 |
A |
G |
13: 55,447,648 (GRCm39) |
T1924A |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,888,113 (GRCm39) |
|
probably null |
Het |
| Or11l3 |
A |
T |
11: 58,516,029 (GRCm39) |
V281D |
probably damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,893 (GRCm39) |
F256L |
probably benign |
Het |
| Or6c213 |
A |
T |
10: 129,574,070 (GRCm39) |
C239S |
probably damaging |
Het |
| Or6c6 |
T |
C |
10: 129,187,326 (GRCm39) |
V298A |
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,280,329 (GRCm39) |
D718G |
possibly damaging |
Het |
| Pitrm1 |
A |
T |
13: 6,605,444 (GRCm39) |
N158I |
probably damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,897,296 (GRCm39) |
V538M |
|
Het |
| Prkdc |
G |
T |
16: 15,555,807 (GRCm39) |
G2194C |
probably damaging |
Het |
| Rint1 |
T |
C |
5: 24,005,800 (GRCm39) |
Y161H |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,684,563 (GRCm39) |
K1966R |
probably damaging |
Het |
| Sgcb |
A |
T |
5: 73,796,720 (GRCm39) |
|
probably null |
Het |
| Slc4a7 |
G |
A |
14: 14,773,348 (GRCm38) |
E773K |
probably benign |
Het |
| Sp100 |
A |
G |
1: 85,619,764 (GRCm39) |
K353E |
possibly damaging |
Het |
| Ssh1 |
T |
C |
5: 114,081,019 (GRCm39) |
T804A |
probably benign |
Het |
| Vipr1 |
T |
C |
9: 121,482,905 (GRCm39) |
L40P |
possibly damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,002,255 (GRCm39) |
S2P |
probably benign |
Het |
| Vwa8 |
T |
C |
14: 79,172,669 (GRCm39) |
S304P |
probably damaging |
Het |
| Zbed4 |
T |
C |
15: 88,665,924 (GRCm39) |
M664T |
probably damaging |
Het |
|
| Other mutations in Psmc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02234:Psmc5
|
APN |
11 |
106,153,836 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02508:Psmc5
|
APN |
11 |
106,153,869 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
Chomp
|
UTSW |
11 |
106,152,746 (GRCm39) |
nonsense |
probably null |
|
|
R0398:Psmc5
|
UTSW |
11 |
106,152,370 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0529:Psmc5
|
UTSW |
11 |
106,151,990 (GRCm39) |
splice site |
probably null |
|
|
R1642:Psmc5
|
UTSW |
11 |
106,153,242 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5353:Psmc5
|
UTSW |
11 |
106,152,327 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6159:Psmc5
|
UTSW |
11 |
106,152,088 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7802:Psmc5
|
UTSW |
11 |
106,152,538 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8757:Psmc5
|
UTSW |
11 |
106,153,687 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8759:Psmc5
|
UTSW |
11 |
106,153,687 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8783:Psmc5
|
UTSW |
11 |
106,153,858 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8872:Psmc5
|
UTSW |
11 |
106,152,746 (GRCm39) |
nonsense |
probably null |
|
|
R8992:Psmc5
|
UTSW |
11 |
106,152,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9427:Psmc5
|
UTSW |
11 |
106,153,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Psmc5
|
UTSW |
11 |
106,153,418 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATCCTGAGGGCAAATTTG -3'
(R):5'- TTACGGAACATGCCCACGTG -3'
Sequencing Primer
(F):5'- TGTTGTTGATGTGGACAAGAAC -3'
(R):5'- CCTGGACTGTGTATTCAAACTAGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation