Incidental Mutation 'IGL01815:Psmd5'
| ID |
154379 |
| 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 # |
IGL01815
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
34742099-34760983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34742783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 440
(F440L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028225]
|
| AlphaFold |
Q8BJY1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028225
AA Change: F440L
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000028225
Gene: ENSMUSG00000026869
AA Change: F440L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasom_PSMB
|
1 |
504 |
3.8e-199 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000135575
AA Change: F75L
|
| SMART Domains |
Protein: ENSMUSP00000116880
Gene: ENSMUSG00000026869
AA Change: F75L
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
A |
G |
4: 155,986,644 (GRCm39) |
E324G |
probably damaging |
Het |
| Arhgap20 |
T |
A |
9: 51,757,468 (GRCm39) |
Y487N |
probably damaging |
Het |
| Babam2 |
C |
T |
5: 31,859,442 (GRCm39) |
A3V |
possibly damaging |
Het |
| Fat4 |
T |
C |
3: 38,942,922 (GRCm39) |
L605P |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,284,239 (GRCm39) |
H1020R |
probably benign |
Het |
| Ighv1-53 |
T |
A |
12: 115,122,217 (GRCm39) |
M53L |
probably benign |
Het |
| Lepr |
A |
T |
4: 101,671,987 (GRCm39) |
I1004F |
possibly damaging |
Het |
| Limd1 |
T |
C |
9: 123,308,801 (GRCm39) |
S167P |
probably benign |
Het |
| Lrrc10b |
T |
C |
19: 10,434,117 (GRCm39) |
D188G |
probably damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,020,863 (GRCm39) |
L450P |
probably benign |
Het |
| Or56b1 |
T |
A |
7: 104,285,552 (GRCm39) |
Y224N |
probably damaging |
Het |
| Or5b104 |
A |
T |
19: 13,073,020 (GRCm39) |
|
probably null |
Het |
| Or7e165 |
A |
G |
9: 19,695,311 (GRCm39) |
N294S |
probably damaging |
Het |
| Or7g21 |
G |
T |
9: 19,032,622 (GRCm39) |
D121Y |
probably damaging |
Het |
| P2ry13 |
T |
C |
3: 59,117,121 (GRCm39) |
N219S |
probably benign |
Het |
| Pcnx1 |
A |
G |
12: 82,037,325 (GRCm39) |
D1861G |
probably damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,666,491 (GRCm39) |
I1007V |
probably benign |
Het |
| Ppp2r1a |
A |
G |
17: 21,177,094 (GRCm39) |
N211D |
probably benign |
Het |
| Rpe65 |
T |
A |
3: 159,310,167 (GRCm39) |
|
probably null |
Het |
| Utrn |
T |
C |
10: 12,528,460 (GRCm39) |
T2172A |
probably benign |
Het |
| Vwa8 |
C |
T |
14: 79,435,717 (GRCm39) |
T1809M |
possibly damaging |
Het |
| Wdr70 |
C |
T |
15: 7,916,805 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Psmd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02291:Psmd5
|
APN |
2 |
34,747,811 (GRCm39) |
missense |
probably benign |
|
|
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 |
2014-02-04 |
Incidental Mutation