Incidental Mutation 'IGL01512:Psmd6'
| ID |
89268 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Psmd6
|
| Ensembl Gene |
ENSMUSG00000021737 |
| Gene Name |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 |
| Synonyms |
2400006A19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
IGL01512
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
8348818-8357578 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14114237 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 294
(Y294C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022256]
[ENSMUST00000224955]
|
| AlphaFold |
Q99JI4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022256
AA Change: Y294C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022256
Gene: ENSMUSG00000021737
AA Change: Y294C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPN7
|
66 |
239 |
5e-65 |
PFAM |
|
PINT
|
290 |
373 |
9.59e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127228
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153237
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224076
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224955
AA Change: Y165C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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 member of the protease subunit S10 family. The encoded protein is a subunit of the 26S proteasome which colocalizes with DNA damage foci and is involved in the ATP-dependent degradation of ubiquinated proteins. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,208,649 (GRCm39) |
I223V |
probably benign |
Het |
| Abra |
T |
C |
15: 41,729,413 (GRCm39) |
E329G |
probably damaging |
Het |
| Ahsa2 |
C |
T |
11: 23,441,582 (GRCm39) |
A163T |
probably benign |
Het |
| Atxn1 |
T |
C |
13: 45,720,077 (GRCm39) |
Q606R |
probably damaging |
Het |
| Fads1 |
T |
A |
19: 10,160,506 (GRCm39) |
S31T |
probably benign |
Het |
| Il6st |
T |
A |
13: 112,640,900 (GRCm39) |
M831K |
probably benign |
Het |
| Lztr1 |
G |
A |
16: 17,340,255 (GRCm39) |
|
probably null |
Het |
| Megf6 |
G |
A |
4: 154,347,040 (GRCm39) |
R755Q |
possibly damaging |
Het |
| Ndn |
T |
G |
7: 61,998,481 (GRCm39) |
L109R |
probably damaging |
Het |
| Or2b4 |
T |
G |
17: 38,116,503 (GRCm39) |
S156A |
probably damaging |
Het |
| Or4c52 |
A |
G |
2: 89,845,636 (GRCm39) |
I121V |
probably damaging |
Het |
| Serpina6 |
A |
G |
12: 103,620,318 (GRCm39) |
Y144H |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,709,286 (GRCm39) |
I68T |
possibly damaging |
Het |
| Trav6d-4 |
G |
A |
14: 52,990,870 (GRCm39) |
V6I |
probably benign |
Het |
| Utp3 |
T |
C |
5: 88,703,803 (GRCm39) |
V444A |
probably damaging |
Het |
| Wdr72 |
T |
C |
9: 74,056,041 (GRCm39) |
V299A |
probably benign |
Het |
| Zfp791 |
C |
T |
8: 85,840,172 (GRCm39) |
V32M |
probably damaging |
Het |
| Zfp9 |
A |
G |
6: 118,444,292 (GRCm39) |
F17S |
probably damaging |
Het |
|
| Other mutations in Psmd6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01937:Psmd6
|
APN |
14 |
14,116,169 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03240:Psmd6
|
APN |
14 |
14,112,393 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03284:Psmd6
|
APN |
14 |
14,112,546 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1479:Psmd6
|
UTSW |
14 |
14,116,819 (GRCm38) |
intron |
probably benign |
|
|
R1627:Psmd6
|
UTSW |
14 |
14,112,539 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1942:Psmd6
|
UTSW |
14 |
14,116,442 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4151:Psmd6
|
UTSW |
14 |
14,120,157 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4279:Psmd6
|
UTSW |
14 |
14,112,297 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R4776:Psmd6
|
UTSW |
14 |
14,120,932 (GRCm38) |
unclassified |
probably benign |
|
|
R4799:Psmd6
|
UTSW |
14 |
14,120,126 (GRCm38) |
missense |
probably benign |
|
|
R4956:Psmd6
|
UTSW |
14 |
14,116,166 (GRCm38) |
missense |
probably benign |
0.16 |
|
R5599:Psmd6
|
UTSW |
14 |
14,120,144 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5828:Psmd6
|
UTSW |
14 |
14,119,990 (GRCm38) |
missense |
probably benign |
0.16 |
|
R5884:Psmd6
|
UTSW |
14 |
14,116,526 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6362:Psmd6
|
UTSW |
14 |
14,116,949 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7208:Psmd6
|
UTSW |
14 |
14,112,225 (GRCm38) |
splice site |
probably null |
|
|
R7590:Psmd6
|
UTSW |
14 |
14,119,882 (GRCm38) |
frame shift |
probably null |
|
|
R7677:Psmd6
|
UTSW |
14 |
14,120,837 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7773:Psmd6
|
UTSW |
14 |
14,119,882 (GRCm38) |
frame shift |
probably null |
|
|
R8228:Psmd6
|
UTSW |
14 |
14,116,843 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R8236:Psmd6
|
UTSW |
14 |
14,119,882 (GRCm38) |
frame shift |
probably null |
|
|
R8506:Psmd6
|
UTSW |
14 |
14,114,181 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation