Incidental Mutation 'IGL00496:Psmd14'
| ID |
13203 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Psmd14
|
| Ensembl Gene |
ENSMUSG00000026914 |
| Gene Name |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 |
| Synonyms |
Pad1, 2610312C03Rik, POH1, 3200001M20Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00496
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
61542038-61630720 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61591026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 32
(Y32C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028278]
|
| AlphaFold |
O35593 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028278
AA Change: Y32C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028278
Gene: ENSMUSG00000026914
AA Change: Y32C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
JAB_MPN
|
30 |
165 |
3.71e-49 |
SMART |
|
Pfam:MitMem_reg
|
173 |
307 |
9e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146051
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154627
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174919
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a component of the 19S regulatory cap complex of the 26S proteasome and mediates substrate deubiquitination. A pseudogene of this gene is also located on the long arm of chromosome 2. [provided by RefSeq, Feb 2012]
|
| Allele List at MGI |
All alleles(42) : Gene trapped(42) |
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
G |
A |
3: 89,960,400 (GRCm39) |
V14M |
possibly damaging |
Het |
| Adgrg6 |
C |
A |
10: 14,326,322 (GRCm39) |
|
probably null |
Het |
| Ankmy1 |
A |
G |
1: 92,813,988 (GRCm39) |
L397P |
probably damaging |
Het |
| Atp6v1c1 |
A |
G |
15: 38,687,100 (GRCm39) |
K232E |
probably damaging |
Het |
| Cnfn |
G |
T |
7: 25,067,385 (GRCm39) |
|
probably benign |
Het |
| Copb2 |
A |
G |
9: 98,452,371 (GRCm39) |
T52A |
probably benign |
Het |
| Daw1 |
A |
C |
1: 83,174,957 (GRCm39) |
L152F |
probably damaging |
Het |
| Gpr87 |
A |
T |
3: 59,087,211 (GRCm39) |
I98K |
probably damaging |
Het |
| Il17a |
G |
A |
1: 20,802,507 (GRCm39) |
R72H |
probably damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,111,512 (GRCm39) |
Q744R |
probably benign |
Het |
| Micall1 |
G |
A |
15: 78,999,221 (GRCm39) |
|
probably benign |
Het |
| Micall2 |
T |
C |
5: 139,702,083 (GRCm39) |
T387A |
probably benign |
Het |
| Nckap1 |
T |
A |
2: 80,336,546 (GRCm39) |
I1057F |
possibly damaging |
Het |
| Nr1h3 |
T |
C |
2: 91,020,544 (GRCm39) |
D263G |
probably damaging |
Het |
| Nrip1 |
A |
T |
16: 76,090,591 (GRCm39) |
V322E |
possibly damaging |
Het |
| Pck1 |
T |
C |
2: 172,995,911 (GRCm39) |
|
probably null |
Het |
| Ppp3r2 |
A |
G |
4: 49,681,773 (GRCm39) |
I59T |
possibly damaging |
Het |
| Pradc1 |
A |
G |
6: 85,424,948 (GRCm39) |
|
probably null |
Het |
| Rrp12 |
A |
C |
19: 41,866,466 (GRCm39) |
|
probably null |
Het |
| Scaf8 |
A |
T |
17: 3,221,409 (GRCm39) |
I299F |
unknown |
Het |
| Selenoo |
A |
G |
15: 88,979,875 (GRCm39) |
D341G |
probably damaging |
Het |
| Slc1a6 |
C |
A |
10: 78,629,142 (GRCm39) |
N186K |
probably damaging |
Het |
| Smarcc2 |
T |
A |
10: 128,298,924 (GRCm39) |
S102R |
probably damaging |
Het |
| Stambpl1 |
T |
A |
19: 34,217,430 (GRCm39) |
V423E |
probably damaging |
Het |
| Svep1 |
A |
C |
4: 58,069,001 (GRCm39) |
C2928W |
possibly damaging |
Het |
| Tmed9 |
T |
C |
13: 55,741,334 (GRCm39) |
Y43H |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,571,091 (GRCm39) |
T24855A |
possibly damaging |
Het |
| Usp7 |
A |
G |
16: 8,512,977 (GRCm39) |
V795A |
probably damaging |
Het |
| Wdr17 |
A |
C |
8: 55,112,614 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Psmd14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01071:Psmd14
|
APN |
2 |
61,630,407 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03036:Psmd14
|
APN |
2 |
61,614,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Agra
|
UTSW |
2 |
61,591,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Psmd14
|
UTSW |
2 |
61,591,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0506:Psmd14
|
UTSW |
2 |
61,630,407 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1006:Psmd14
|
UTSW |
2 |
61,627,726 (GRCm39) |
splice site |
probably null |
|
|
R1518:Psmd14
|
UTSW |
2 |
61,591,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1543:Psmd14
|
UTSW |
2 |
61,615,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1913:Psmd14
|
UTSW |
2 |
61,615,800 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2356:Psmd14
|
UTSW |
2 |
61,630,351 (GRCm39) |
missense |
probably benign |
|
|
R6820:Psmd14
|
UTSW |
2 |
61,607,068 (GRCm39) |
missense |
probably benign |
|
|
R7271:Psmd14
|
UTSW |
2 |
61,591,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9075:Psmd14
|
UTSW |
2 |
61,607,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation