Incidental Mutation 'IGL01937:Psmd6'
| ID |
180732 |
| 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 # |
IGL01937
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
8348818-8357578 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14116169 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 140
(S140T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022256]
[ENSMUST00000224955]
|
| AlphaFold |
Q99JI4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022256
AA Change: S269T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022256
Gene: ENSMUSG00000021737
AA Change: S269T
| 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: ENSMUST00000147471
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153237
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224076
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224955
AA Change: S140T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
C |
11: 109,974,130 (GRCm39) |
|
probably benign |
Het |
| Abcb11 |
G |
T |
2: 69,117,956 (GRCm39) |
P474H |
probably damaging |
Het |
| Actn1 |
T |
C |
12: 80,218,537 (GRCm39) |
N749S |
probably benign |
Het |
| Atf7ip2 |
T |
A |
16: 10,059,401 (GRCm39) |
|
probably null |
Het |
| Brinp3 |
A |
T |
1: 146,776,878 (GRCm39) |
T442S |
probably benign |
Het |
| Cdh20 |
A |
G |
1: 110,065,826 (GRCm39) |
N700S |
probably benign |
Het |
| Cntn4 |
T |
A |
6: 106,414,865 (GRCm39) |
V132E |
probably damaging |
Het |
| Dlc1 |
G |
T |
8: 37,317,345 (GRCm39) |
S443R |
probably benign |
Het |
| Evi2b |
T |
A |
11: 79,406,893 (GRCm39) |
K227N |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gstm3 |
T |
C |
3: 107,874,973 (GRCm39) |
E93G |
probably damaging |
Het |
| Hemgn |
T |
C |
4: 46,396,057 (GRCm39) |
Y393C |
probably damaging |
Het |
| Hepacam2 |
T |
A |
6: 3,487,117 (GRCm39) |
Y4F |
probably benign |
Het |
| Hipk1 |
T |
C |
3: 103,651,320 (GRCm39) |
I1148V |
possibly damaging |
Het |
| Katnip |
A |
G |
7: 125,453,777 (GRCm39) |
T1165A |
probably benign |
Het |
| Kl |
A |
T |
5: 150,912,402 (GRCm39) |
D717V |
probably damaging |
Het |
| Mmp14 |
T |
C |
14: 54,675,053 (GRCm39) |
|
probably benign |
Het |
| Nlrp1b |
T |
G |
11: 71,072,233 (GRCm39) |
T537P |
probably damaging |
Het |
| Or5k3 |
T |
C |
16: 58,969,827 (GRCm39) |
S205P |
probably benign |
Het |
| Or8k33 |
A |
G |
2: 86,383,793 (GRCm39) |
V225A |
probably benign |
Het |
| Pcnx3 |
A |
G |
19: 5,727,691 (GRCm39) |
V1031A |
probably benign |
Het |
| Plk2 |
A |
G |
13: 110,535,588 (GRCm39) |
D470G |
possibly damaging |
Het |
| Ppa1 |
G |
A |
10: 61,501,215 (GRCm39) |
V161M |
probably benign |
Het |
| Prrc2a |
A |
C |
17: 35,374,567 (GRCm39) |
I1361S |
possibly damaging |
Het |
| Ptprm |
A |
G |
17: 67,353,158 (GRCm39) |
|
probably benign |
Het |
| Ranbp17 |
T |
C |
11: 33,278,520 (GRCm39) |
T116A |
possibly damaging |
Het |
| Reps1 |
A |
G |
10: 17,969,584 (GRCm39) |
N229S |
probably benign |
Het |
| Rfx3 |
A |
T |
19: 27,808,129 (GRCm39) |
Y205N |
probably damaging |
Het |
| Robo1 |
A |
T |
16: 72,759,114 (GRCm39) |
I376F |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,805,249 (GRCm39) |
I872F |
probably damaging |
Het |
| Selenop |
C |
T |
15: 3,308,750 (GRCm39) |
T234M |
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,823,439 (GRCm39) |
Y707H |
probably damaging |
Het |
| Strap |
A |
G |
6: 137,718,333 (GRCm39) |
I146V |
probably benign |
Het |
| Tcim |
A |
T |
8: 24,928,892 (GRCm39) |
H7Q |
probably benign |
Het |
| Thada |
G |
T |
17: 84,530,194 (GRCm39) |
T1725N |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r84 |
A |
G |
10: 130,221,755 (GRCm39) |
C822R |
probably damaging |
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 |
|
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 |
2014-05-07 |
Incidental Mutation