Incidental Mutation 'IGL02291:Psmd5'
| ID |
290334 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Psmd5
|
| Ensembl Gene |
ENSMUSG00000026869 |
| Gene Name |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 |
| Synonyms |
S5b, 1500032A03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02291
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
34742099-34760983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34747811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 282
(V282A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028225]
|
| AlphaFold |
Q8BJY1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028225
AA Change: V282A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028225
Gene: ENSMUSG00000026869
AA Change: V282A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasom_PSMB
|
1 |
504 |
3.8e-199 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135575
|
| SMART Domains |
Protein: ENSMUSP00000116880
Gene: ENSMUSG00000026869
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasom_PSMB
|
1 |
56 |
1.4e-17 |
PFAM |
|
Pfam:Proteasom_PSMB
|
51 |
140 |
1.5e-34 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143456
|
| Coding Region Coverage |
|
| 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 non-ATPase subunit of the 19S regulator base that functions as a chaperone protein during 26S proteasome assembly. [provided by RefSeq, Jul 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
T |
A |
8: 78,109,344 (GRCm39) |
|
probably benign |
Het |
| Cfap161 |
C |
T |
7: 83,440,847 (GRCm39) |
G135D |
probably benign |
Het |
| Cpne1 |
A |
G |
2: 155,920,340 (GRCm39) |
V179A |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,487,021 (GRCm39) |
I219N |
probably damaging |
Het |
| Creb3l4 |
T |
G |
3: 90,149,290 (GRCm39) |
R139S |
probably benign |
Het |
| Fer1l4 |
T |
C |
2: 155,861,458 (GRCm39) |
K1929E |
probably damaging |
Het |
| Gm5431 |
A |
G |
11: 48,779,791 (GRCm39) |
L655P |
probably damaging |
Het |
| Igsf3 |
T |
G |
3: 101,346,845 (GRCm39) |
H613Q |
probably damaging |
Het |
| Kcnab1 |
T |
C |
3: 65,264,503 (GRCm39) |
Y251H |
possibly damaging |
Het |
| Kmt2d |
T |
C |
15: 98,763,373 (GRCm39) |
|
probably benign |
Het |
| Krt17 |
A |
T |
11: 100,147,319 (GRCm39) |
V404E |
probably benign |
Het |
| Lipo2 |
A |
G |
19: 33,723,192 (GRCm39) |
I199T |
possibly damaging |
Het |
| Mks1 |
T |
A |
11: 87,750,493 (GRCm39) |
|
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 71,013,415 (GRCm39) |
|
probably null |
Het |
| Nup210 |
T |
C |
6: 91,078,250 (GRCm39) |
D100G |
probably damaging |
Het |
| Or13a21 |
A |
T |
7: 139,999,200 (GRCm39) |
L162Q |
probably damaging |
Het |
| Or1o11 |
G |
A |
17: 37,757,176 (GRCm39) |
V255I |
possibly damaging |
Het |
| Or2y1g |
T |
A |
11: 49,171,812 (GRCm39) |
I279N |
probably damaging |
Het |
| Or7h8 |
T |
C |
9: 20,124,098 (GRCm39) |
I151T |
probably benign |
Het |
| Rasal3 |
A |
T |
17: 32,612,711 (GRCm39) |
|
probably benign |
Het |
| Rnf10 |
T |
C |
5: 115,398,255 (GRCm39) |
N93D |
probably damaging |
Het |
| Semp2l2a |
T |
A |
8: 13,887,704 (GRCm39) |
N129I |
probably benign |
Het |
| Slc7a9 |
G |
A |
7: 35,156,439 (GRCm39) |
G294R |
probably damaging |
Het |
| Taf7 |
C |
T |
18: 37,776,415 (GRCm39) |
G51R |
possibly damaging |
Het |
| Tas2r126 |
G |
A |
6: 42,412,221 (GRCm39) |
M251I |
probably benign |
Het |
| Trim33 |
T |
C |
3: 103,234,181 (GRCm39) |
F473S |
probably damaging |
Het |
| Vmn1r127 |
A |
G |
7: 21,052,999 (GRCm39) |
L263P |
possibly damaging |
Het |
| Vmn1r234 |
G |
A |
17: 21,449,193 (GRCm39) |
V36I |
probably benign |
Het |
| Vmn2r84 |
T |
A |
10: 130,226,617 (GRCm39) |
H407L |
probably damaging |
Het |
|
| Other mutations in Psmd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01815:Psmd5
|
APN |
2 |
34,742,783 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01929:Psmd5
|
APN |
2 |
34,753,478 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02019:Psmd5
|
APN |
2 |
34,744,286 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02402:Psmd5
|
APN |
2 |
34,747,784 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1597:Psmd5
|
UTSW |
2 |
34,757,035 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1820:Psmd5
|
UTSW |
2 |
34,760,758 (GRCm39) |
splice site |
probably null |
|
|
R4855:Psmd5
|
UTSW |
2 |
34,742,564 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4948:Psmd5
|
UTSW |
2 |
34,760,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5019:Psmd5
|
UTSW |
2 |
34,755,965 (GRCm39) |
intron |
probably benign |
|
|
R5633:Psmd5
|
UTSW |
2 |
34,746,500 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6208:Psmd5
|
UTSW |
2 |
34,757,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6765:Psmd5
|
UTSW |
2 |
34,746,545 (GRCm39) |
missense |
probably benign |
|
|
R6787:Psmd5
|
UTSW |
2 |
34,747,649 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7594:Psmd5
|
UTSW |
2 |
34,750,741 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7883:Psmd5
|
UTSW |
2 |
34,746,524 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8409:Psmd5
|
UTSW |
2 |
34,760,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8886:Psmd5
|
UTSW |
2 |
34,747,755 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9218:Psmd5
|
UTSW |
2 |
34,747,794 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9457:Psmd5
|
UTSW |
2 |
34,744,338 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation