Incidental Mutation 'R5353:Psmc5'
ID |
423924 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psmc5
|
Ensembl Gene |
ENSMUSG00000020708 |
Gene Name |
protease (prosome, macropain) 26S subunit, ATPase 5 |
Synonyms |
mSUG1, Rpt6 |
MMRRC Submission |
042932-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R5353 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
106147011-106153938 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 106152327 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 115
(A115S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138057
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021049]
[ENSMUST00000021052]
[ENSMUST00000106843]
[ENSMUST00000133131]
[ENSMUST00000140255]
|
AlphaFold |
P62196 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021049
AA Change: A115S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000021049 Gene: ENSMUSG00000020708 AA Change: A115S
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 |
noncoding transcript
Transcript: ENSMUST00000083228
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000106841
|
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 |
noncoding transcript
Transcript: ENSMUST00000132278
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000133131
AA Change: A115S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000138057 Gene: ENSMUSG00000020708 AA Change: A115S
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 |
noncoding transcript
Transcript: ENSMUST00000155514
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174253
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155243
|
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 |
|
Meta Mutation Damage Score |
0.1952 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
Validation Efficiency |
100% (59/59) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim3 |
A |
G |
18: 61,934,470 (GRCm39) |
S649P |
probably damaging |
Het |
Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
Adamts1 |
T |
A |
16: 85,599,496 (GRCm39) |
M35L |
probably benign |
Het |
Adgrg3 |
A |
T |
8: 95,762,556 (GRCm39) |
H202L |
probably damaging |
Het |
Anln |
G |
T |
9: 22,271,813 (GRCm39) |
R681S |
probably damaging |
Het |
Aprt |
A |
T |
8: 123,302,147 (GRCm39) |
M1K |
probably null |
Het |
Arid3b |
G |
T |
9: 57,702,320 (GRCm39) |
|
probably null |
Het |
Cbl |
A |
G |
9: 44,084,620 (GRCm39) |
F172L |
probably damaging |
Het |
Cd109 |
G |
T |
9: 78,617,521 (GRCm39) |
V1340L |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
Chrm3 |
A |
G |
13: 9,928,593 (GRCm39) |
Y148H |
probably damaging |
Het |
Cog7 |
A |
C |
7: 121,540,470 (GRCm39) |
|
probably null |
Het |
Cpsf1 |
A |
T |
15: 76,486,771 (GRCm39) |
I255N |
probably damaging |
Het |
Crebzf |
G |
A |
7: 90,092,622 (GRCm39) |
G134R |
probably damaging |
Het |
Crybg1 |
T |
C |
10: 43,849,661 (GRCm39) |
S1705G |
probably damaging |
Het |
Dock6 |
A |
T |
9: 21,726,082 (GRCm39) |
H1409Q |
probably benign |
Het |
Fank1 |
A |
G |
7: 133,478,632 (GRCm39) |
D232G |
probably damaging |
Het |
Fat1 |
G |
T |
8: 45,489,168 (GRCm39) |
V3480L |
probably benign |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Fmn2 |
G |
T |
1: 174,330,572 (GRCm39) |
G321W |
unknown |
Het |
Greb1 |
A |
T |
12: 16,738,567 (GRCm39) |
Y1465* |
probably null |
Het |
Hdac9 |
G |
A |
12: 34,443,392 (GRCm39) |
Q330* |
probably null |
Het |
Kcnt2 |
C |
T |
1: 140,354,639 (GRCm39) |
T298I |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,901,464 (GRCm39) |
D1055G |
probably benign |
Het |
Mroh2b |
T |
C |
15: 4,946,660 (GRCm39) |
S487P |
probably damaging |
Het |
Naa38 |
G |
A |
11: 69,287,408 (GRCm39) |
V110I |
probably benign |
Het |
Nkd2 |
T |
C |
13: 73,969,557 (GRCm39) |
H303R |
probably damaging |
Het |
Nr1d2 |
A |
G |
14: 18,222,125 (GRCm38) |
C49R |
probably benign |
Het |
Or4c111 |
A |
G |
2: 88,844,099 (GRCm39) |
V103A |
probably benign |
Het |
Or52b2 |
A |
G |
7: 104,986,324 (GRCm39) |
Y200H |
probably damaging |
Het |
Ovch2 |
T |
A |
7: 107,393,631 (GRCm39) |
E165V |
probably damaging |
Het |
Phyh |
A |
T |
2: 4,947,012 (GRCm39) |
|
probably benign |
Het |
Pik3r4 |
G |
A |
9: 105,545,137 (GRCm39) |
|
probably null |
Het |
Ppip5k1 |
A |
C |
2: 121,142,201 (GRCm39) |
V1416G |
probably benign |
Het |
Ppm1b |
T |
C |
17: 85,301,537 (GRCm39) |
V139A |
probably benign |
Het |
Ppp1r12a |
T |
G |
10: 108,097,077 (GRCm39) |
|
probably null |
Het |
Pramel20 |
A |
G |
4: 143,297,807 (GRCm39) |
T76A |
probably benign |
Het |
Ptpn5 |
T |
A |
7: 46,731,642 (GRCm39) |
E409V |
probably benign |
Het |
Ptprg |
T |
A |
14: 11,554,235 (GRCm38) |
|
probably benign |
Het |
Qrich1 |
G |
T |
9: 108,422,164 (GRCm39) |
V593F |
probably damaging |
Het |
Rbbp9 |
T |
C |
2: 144,385,741 (GRCm39) |
I175V |
probably benign |
Het |
Selenot |
T |
C |
3: 58,493,387 (GRCm39) |
F88S |
possibly damaging |
Het |
Sp110 |
C |
T |
1: 85,516,841 (GRCm39) |
E219K |
possibly damaging |
Het |
Spred2 |
A |
G |
11: 19,968,155 (GRCm39) |
D208G |
possibly damaging |
Het |
Surf1 |
T |
C |
2: 26,804,204 (GRCm39) |
T197A |
probably benign |
Het |
Taco1 |
G |
A |
11: 105,963,539 (GRCm39) |
|
probably null |
Het |
Tas2r109 |
A |
G |
6: 132,957,594 (GRCm39) |
V112A |
possibly damaging |
Het |
Tpr |
C |
T |
1: 150,321,675 (GRCm39) |
R3C |
probably damaging |
Het |
Uggt2 |
A |
G |
14: 119,319,182 (GRCm39) |
I280T |
probably benign |
Het |
Yipf2 |
A |
G |
9: 21,503,228 (GRCm39) |
Y80H |
possibly damaging |
Het |
Zscan12 |
T |
C |
13: 21,548,178 (GRCm39) |
V120A |
possibly 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 |
R6159:Psmc5
|
UTSW |
11 |
106,152,088 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7647:Psmc5
|
UTSW |
11 |
106,152,433 (GRCm39) |
missense |
possibly damaging |
0.58 |
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'- CAAGGTAAAAGCAGCATGCC -3'
(R):5'- TGCCCAGTGCTTCAAAGAGC -3'
Sequencing Primer
(F):5'- AGGCTCCTAGTGCTCCC -3'
(R):5'- TGCTTCAAAGAGCTCGGG -3'
|
Posted On |
2016-08-04 |