Incidental Mutation 'R7802:Psmc5'
| ID |
600578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psmc5
|
| Ensembl Gene |
ENSMUSG00000020708 |
| Gene Name |
protease (prosome, macropain) 26S subunit, ATPase 5 |
| Synonyms |
mSUG1, Rpt6 |
| MMRRC Submission |
045857-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R7802 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106147011-106153938 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 106152538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021049]
[ENSMUST00000021052]
[ENSMUST00000106843]
[ENSMUST00000133131]
[ENSMUST00000140255]
|
| AlphaFold |
P62196 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021049
|
| SMART Domains |
Protein: ENSMUSP00000021049
Gene: ENSMUSG00000020708
| 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 |
probably benign
Transcript: ENSMUST00000133131
|
| SMART Domains |
Protein: ENSMUSP00000138057
Gene: ENSMUSG00000020708
| 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: 98.7%
|
| Validation Efficiency |
97% (35/36) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
T |
C |
2: 31,650,438 (GRCm39) |
V12A |
probably benign |
Het |
| Bahcc1 |
T |
C |
11: 120,165,518 (GRCm39) |
F983S |
probably benign |
Het |
| Cecr2 |
T |
C |
6: 120,720,808 (GRCm39) |
I312T |
probably benign |
Het |
| Col6a2 |
A |
T |
10: 76,439,632 (GRCm39) |
W711R |
probably damaging |
Het |
| Epb41l4a |
A |
G |
18: 33,961,227 (GRCm39) |
F436L |
probably benign |
Het |
| Epha1 |
C |
T |
6: 42,338,875 (GRCm39) |
R641Q |
possibly damaging |
Het |
| Ercc6 |
C |
A |
14: 32,239,260 (GRCm39) |
A116E |
probably damaging |
Het |
| Ermard |
A |
G |
17: 15,281,423 (GRCm39) |
E611G |
probably benign |
Het |
| Galnt16 |
T |
G |
12: 80,628,021 (GRCm39) |
I239S |
probably damaging |
Het |
| Gna15 |
T |
C |
10: 81,350,175 (GRCm39) |
R76G |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,813,838 (GRCm39) |
Y2657C |
probably damaging |
Het |
| Mapkapk2 |
T |
C |
1: 130,984,639 (GRCm39) |
I238V |
possibly damaging |
Het |
| Med13l |
T |
C |
5: 118,866,655 (GRCm39) |
S570P |
probably benign |
Het |
| Mrap |
C |
T |
16: 90,546,247 (GRCm39) |
T112M |
probably benign |
Het |
| Nadsyn1 |
T |
C |
7: 143,359,763 (GRCm39) |
Q403R |
probably benign |
Het |
| Nostrin |
T |
C |
2: 69,019,356 (GRCm39) |
V467A |
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,710,119 (GRCm39) |
|
probably null |
Het |
| Parp16 |
A |
G |
9: 65,137,179 (GRCm39) |
N135S |
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,211,137 (GRCm39) |
|
probably null |
Het |
| Pde8b |
T |
C |
13: 95,237,446 (GRCm39) |
D116G |
probably damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
G |
T |
7: 97,310,979 (GRCm39) |
V570F |
|
Het |
| Rundc3a |
A |
G |
11: 102,290,835 (GRCm39) |
E306G |
probably benign |
Het |
| Serpinb6b |
C |
T |
13: 33,155,579 (GRCm39) |
|
|
Het |
| Setx |
A |
G |
2: 29,037,033 (GRCm39) |
T1173A |
probably benign |
Het |
| Slamf8 |
A |
G |
1: 172,415,677 (GRCm39) |
S54P |
probably damaging |
Het |
| Slc5a2 |
A |
C |
7: 127,870,970 (GRCm39) |
D570A |
possibly damaging |
Het |
| Slco5a1 |
T |
A |
1: 13,060,700 (GRCm39) |
Q7L |
possibly damaging |
Het |
| Stt3b |
G |
T |
9: 115,105,949 (GRCm39) |
S175R |
probably damaging |
Het |
| Taar6 |
T |
A |
10: 23,861,151 (GRCm39) |
I132F |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,689,500 (GRCm39) |
V2029A |
probably damaging |
Het |
| Tgm4 |
A |
G |
9: 122,880,401 (GRCm39) |
|
probably benign |
Het |
| Tmt1a |
A |
T |
15: 100,203,182 (GRCm39) |
N152I |
possibly damaging |
Het |
| Togaram1 |
T |
A |
12: 65,013,758 (GRCm39) |
C336* |
probably null |
Het |
| Ttn |
G |
A |
2: 76,768,015 (GRCm39) |
T3028M |
unknown |
Het |
| Vmn2r25 |
A |
T |
6: 123,828,791 (GRCm39) |
I161N |
possibly damaging |
Het |
| Vwf |
T |
C |
6: 125,643,640 (GRCm39) |
C2394R |
|
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 |
|
R7647:Psmc5
|
UTSW |
11 |
106,152,433 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
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'- ATCTTACCTAACAAGGTGGACC -3'
(R):5'- CAATGTCTTCCCAGTGCCTG -3'
Sequencing Primer
(F):5'- ACCCTTTGGTGTCACTAATGATG -3'
(R):5'- CTAGAGGGAGAGTATACATTACACTC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation