Incidental Mutation 'IGL03284:Psmd6'
ID |
415659 |
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 # |
IGL03284
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
8348818-8357578 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 14112546 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 351
(N351K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022256
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022256]
[ENSMUST00000224955]
|
AlphaFold |
Q99JI4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022256
AA Change: N351K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000022256 Gene: ENSMUSG00000021737 AA Change: N351K
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 benign
Transcript: ENSMUST00000224955
|
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: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
A |
T |
8: 25,276,354 (GRCm39) |
|
probably benign |
Het |
Atxn7l3b |
T |
C |
10: 112,764,431 (GRCm39) |
D66G |
probably benign |
Het |
Dmac2 |
T |
C |
7: 25,321,851 (GRCm39) |
|
probably null |
Het |
Ephb2 |
A |
G |
4: 136,388,827 (GRCm39) |
M590T |
probably damaging |
Het |
Fbxo41 |
C |
T |
6: 85,456,747 (GRCm39) |
R474H |
probably damaging |
Het |
Fcgbp |
G |
T |
7: 27,784,857 (GRCm39) |
A306S |
possibly damaging |
Het |
Hapstr1 |
A |
G |
16: 8,673,786 (GRCm39) |
I238V |
possibly damaging |
Het |
Hmg20a |
A |
G |
9: 56,388,901 (GRCm39) |
D156G |
probably benign |
Het |
Mast4 |
A |
G |
13: 102,887,905 (GRCm39) |
V1168A |
probably damaging |
Het |
Oog2 |
A |
G |
4: 143,923,177 (GRCm39) |
|
probably benign |
Het |
Pate12 |
T |
A |
9: 36,344,759 (GRCm39) |
C96S |
probably damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,410,914 (GRCm39) |
|
probably benign |
Het |
Ralgps1 |
T |
C |
2: 33,036,577 (GRCm39) |
|
probably benign |
Het |
Rbl1 |
C |
T |
2: 157,035,989 (GRCm39) |
|
probably benign |
Het |
Smarcc1 |
G |
A |
9: 110,004,142 (GRCm39) |
V399I |
probably benign |
Het |
Srek1 |
C |
A |
13: 103,897,045 (GRCm39) |
V99F |
probably damaging |
Het |
Styxl1 |
A |
G |
5: 135,785,949 (GRCm39) |
V32A |
possibly damaging |
Het |
Tnn |
C |
T |
1: 159,953,022 (GRCm39) |
V673I |
probably benign |
Het |
Vmn2r107 |
T |
A |
17: 20,577,173 (GRCm39) |
D390E |
probably benign |
Het |
|
Other mutations in Psmd6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01512:Psmd6
|
APN |
14 |
14,114,237 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01937:Psmd6
|
APN |
14 |
14,116,169 (GRCm38) |
missense |
probably benign |
0.00 |
IGL03240:Psmd6
|
APN |
14 |
14,112,393 (GRCm38) |
unclassified |
probably benign |
|
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 |
2016-08-02 |