Incidental Mutation 'R6700:Psmd13'
ID |
528215 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psmd13
|
Ensembl Gene |
ENSMUSG00000025487 |
Gene Name |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 |
Synonyms |
26S proteasome subunit p40.5, S11 |
MMRRC Submission |
044818-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.965)
|
Stock # |
R6700 (G1)
|
Quality Score |
205.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
140462307-140478555 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 140470522 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 255
(W255R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026560
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026560]
[ENSMUST00000163610]
[ENSMUST00000164681]
[ENSMUST00000166889]
|
AlphaFold |
Q9WVJ2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026560
AA Change: W255R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000026560 Gene: ENSMUSG00000025487 AA Change: W255R
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
14 |
N/A |
INTRINSIC |
PINT
|
263 |
356 |
2.26e-21 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121585
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125668
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129683
|
Predicted Effect |
unknown
Transcript: ENSMUST00000130462
AA Change: W91R
|
SMART Domains |
Protein: ENSMUSP00000126160 Gene: ENSMUSG00000025487 AA Change: W91R
Domain | Start | End | E-Value | Type |
PINT
|
100 |
189 |
6.59e-14 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140411
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163610
AA Change: W255R
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000130580 Gene: ENSMUSG00000025487 AA Change: W255R
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
14 |
N/A |
INTRINSIC |
PDB:4CR4|O
|
16 |
347 |
7e-44 |
PDB |
Blast:PINT
|
245 |
329 |
9e-26 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151644
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146875
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164681
|
SMART Domains |
Protein: ENSMUSP00000132405 Gene: ENSMUSG00000025487
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
14 |
N/A |
INTRINSIC |
PDB:4CR4|O
|
16 |
184 |
1e-12 |
PDB |
low complexity region
|
217 |
232 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166889
|
SMART Domains |
Protein: ENSMUSP00000126532 Gene: ENSMUSG00000025487
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
14 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165539
|
SMART Domains |
Protein: ENSMUSP00000130256 Gene: ENSMUSG00000025487
Domain | Start | End | E-Value | Type |
Pfam:PCI
|
1 |
63 |
7.7e-10 |
PFAM |
|
Meta Mutation Damage Score |
0.9044 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (62/62) |
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. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
T |
C |
9: 55,881,140 (GRCm39) |
E504G |
unknown |
Het |
Aak1 |
G |
A |
6: 86,941,185 (GRCm39) |
E660K |
unknown |
Het |
Abcc9 |
A |
G |
6: 142,633,013 (GRCm39) |
I243T |
possibly damaging |
Het |
Baiap3 |
A |
G |
17: 25,463,000 (GRCm39) |
S1013P |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,162,036 (GRCm39) |
D2295E |
probably benign |
Het |
Blm |
A |
G |
7: 80,113,598 (GRCm39) |
V1233A |
possibly damaging |
Het |
Brsk1 |
G |
T |
7: 4,695,700 (GRCm39) |
V62F |
probably damaging |
Het |
Cacna2d1 |
A |
G |
5: 16,570,458 (GRCm39) |
E1011G |
probably damaging |
Het |
Cdh18 |
A |
G |
15: 23,474,191 (GRCm39) |
Y687C |
probably benign |
Het |
Cfap221 |
T |
C |
1: 119,883,421 (GRCm39) |
E250G |
possibly damaging |
Het |
Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
Cps1 |
G |
T |
1: 67,268,682 (GRCm39) |
|
probably null |
Het |
Cyp4v3 |
A |
G |
8: 45,760,130 (GRCm39) |
V34A |
probably damaging |
Het |
Dnah9 |
C |
T |
11: 65,846,192 (GRCm39) |
V2949M |
probably damaging |
Het |
Dst |
A |
C |
1: 34,295,404 (GRCm39) |
Q3454P |
probably damaging |
Het |
Filip1l |
T |
C |
16: 57,391,611 (GRCm39) |
L495P |
possibly damaging |
Het |
Flnb |
C |
A |
14: 7,892,189 (GRCm38) |
H619Q |
probably damaging |
Het |
Fst |
G |
C |
13: 114,595,043 (GRCm39) |
A27G |
probably benign |
Het |
Ggnbp2 |
C |
A |
11: 84,730,931 (GRCm39) |
R364L |
probably damaging |
Het |
Gins1 |
C |
T |
2: 150,758,148 (GRCm39) |
A78V |
probably damaging |
Het |
Gm19410 |
T |
A |
8: 36,274,664 (GRCm39) |
L1495H |
possibly damaging |
Het |
Golgb1 |
C |
T |
16: 36,695,946 (GRCm39) |
|
probably benign |
Het |
Lin7a |
A |
G |
10: 107,216,167 (GRCm39) |
|
probably null |
Het |
Lrp6 |
A |
T |
6: 134,456,523 (GRCm39) |
C914S |
probably damaging |
Het |
Lrrc8e |
G |
A |
8: 4,286,034 (GRCm39) |
G753D |
probably damaging |
Het |
Mapk4 |
A |
G |
18: 74,063,882 (GRCm39) |
Y447H |
probably damaging |
Het |
Mbl1 |
A |
G |
14: 40,880,511 (GRCm39) |
N133S |
probably damaging |
Het |
Mrps30 |
A |
T |
13: 118,517,134 (GRCm39) |
S362T |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nbea |
T |
C |
3: 55,989,869 (GRCm39) |
N329S |
possibly damaging |
Het |
Or13p10 |
A |
T |
4: 118,523,609 (GRCm39) |
K298N |
probably benign |
Het |
Or51k2 |
G |
A |
7: 103,596,531 (GRCm39) |
V253M |
probably damaging |
Het |
Or5b120 |
A |
T |
19: 13,480,177 (GRCm39) |
I157F |
probably damaging |
Het |
Or6k14 |
G |
A |
1: 173,927,405 (GRCm39) |
C127Y |
probably damaging |
Het |
Pik3c3 |
A |
G |
18: 30,449,954 (GRCm39) |
E589G |
probably benign |
Het |
Plb1 |
A |
T |
5: 32,490,808 (GRCm39) |
D1035V |
probably damaging |
Het |
Plekhg1 |
G |
T |
10: 3,907,373 (GRCm39) |
M763I |
probably benign |
Het |
Poc5 |
A |
G |
13: 96,531,003 (GRCm39) |
N67S |
probably benign |
Het |
Rbm27 |
A |
G |
18: 42,459,004 (GRCm39) |
Y735C |
probably damaging |
Het |
Rhpn2 |
A |
T |
7: 35,075,594 (GRCm39) |
N257I |
possibly damaging |
Het |
Rilpl2 |
C |
T |
5: 124,607,843 (GRCm39) |
E126K |
probably damaging |
Het |
Rp1 |
G |
A |
1: 4,420,119 (GRCm39) |
T331M |
probably damaging |
Het |
Sh3pxd2a |
A |
G |
19: 47,353,146 (GRCm39) |
V105A |
possibly damaging |
Het |
Slc9a9 |
T |
C |
9: 94,818,364 (GRCm39) |
S253P |
possibly damaging |
Het |
St8sia3 |
C |
T |
18: 64,398,452 (GRCm39) |
|
probably benign |
Het |
Strbp |
T |
C |
2: 37,493,975 (GRCm39) |
D366G |
probably null |
Het |
Tbx5 |
A |
G |
5: 120,009,462 (GRCm39) |
T324A |
probably benign |
Het |
Tex15 |
T |
A |
8: 34,064,917 (GRCm39) |
I1449N |
possibly damaging |
Het |
Tmtc3 |
C |
T |
10: 100,307,339 (GRCm39) |
V222I |
probably benign |
Het |
Top3b |
T |
C |
16: 16,710,533 (GRCm39) |
S788P |
possibly damaging |
Het |
Tsc22d4 |
A |
G |
5: 137,756,785 (GRCm39) |
D71G |
probably benign |
Het |
Tubgcp4 |
T |
A |
2: 121,020,329 (GRCm39) |
V434E |
probably benign |
Het |
Ufsp1 |
A |
G |
5: 137,293,158 (GRCm39) |
Y36C |
possibly damaging |
Het |
Unc79 |
T |
A |
12: 103,091,962 (GRCm39) |
H1956Q |
possibly damaging |
Het |
Usp34 |
A |
T |
11: 23,389,011 (GRCm39) |
N2217I |
probably damaging |
Het |
Vmn2r112 |
A |
T |
17: 22,822,462 (GRCm39) |
D380V |
possibly damaging |
Het |
Vmn2r13 |
A |
G |
5: 109,322,938 (GRCm39) |
I117T |
probably benign |
Het |
Vmn2r53 |
A |
G |
7: 12,315,633 (GRCm39) |
Y729H |
probably damaging |
Het |
Wnt3a |
A |
T |
11: 59,140,587 (GRCm39) |
L310M |
probably damaging |
Het |
Zc3h7a |
T |
C |
16: 10,976,831 (GRCm39) |
Q155R |
possibly damaging |
Het |
|
Other mutations in Psmd13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00233:Psmd13
|
APN |
7 |
140,477,534 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02265:Psmd13
|
APN |
7 |
140,462,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R0326:Psmd13
|
UTSW |
7 |
140,477,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R1163:Psmd13
|
UTSW |
7 |
140,477,367 (GRCm39) |
missense |
probably damaging |
0.97 |
R1667:Psmd13
|
UTSW |
7 |
140,470,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R1721:Psmd13
|
UTSW |
7 |
140,463,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R1867:Psmd13
|
UTSW |
7 |
140,463,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R1993:Psmd13
|
UTSW |
7 |
140,478,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R2070:Psmd13
|
UTSW |
7 |
140,477,561 (GRCm39) |
missense |
probably damaging |
0.99 |
R2844:Psmd13
|
UTSW |
7 |
140,477,653 (GRCm39) |
intron |
probably benign |
|
R2845:Psmd13
|
UTSW |
7 |
140,477,653 (GRCm39) |
intron |
probably benign |
|
R2846:Psmd13
|
UTSW |
7 |
140,477,653 (GRCm39) |
intron |
probably benign |
|
R2869:Psmd13
|
UTSW |
7 |
140,466,968 (GRCm39) |
missense |
probably damaging |
0.99 |
R2869:Psmd13
|
UTSW |
7 |
140,466,968 (GRCm39) |
missense |
probably damaging |
0.99 |
R2871:Psmd13
|
UTSW |
7 |
140,466,968 (GRCm39) |
missense |
probably damaging |
0.99 |
R2871:Psmd13
|
UTSW |
7 |
140,466,968 (GRCm39) |
missense |
probably damaging |
0.99 |
R4358:Psmd13
|
UTSW |
7 |
140,469,418 (GRCm39) |
intron |
probably benign |
|
R4973:Psmd13
|
UTSW |
7 |
140,466,766 (GRCm39) |
nonsense |
probably null |
|
R5197:Psmd13
|
UTSW |
7 |
140,474,374 (GRCm39) |
splice site |
probably null |
|
R8239:Psmd13
|
UTSW |
7 |
140,466,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R8798:Psmd13
|
UTSW |
7 |
140,477,663 (GRCm39) |
nonsense |
probably null |
|
R9516:Psmd13
|
UTSW |
7 |
140,478,455 (GRCm39) |
missense |
|
|
Z1176:Psmd13
|
UTSW |
7 |
140,462,339 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTGGCCTGGCACTTAACAGC -3'
(R):5'- ATCGTAGTAAGCGGTTTCTTTCAC -3'
Sequencing Primer
(F):5'- TGGCACTTAACAGCGTGGG -3'
(R):5'- ACCGAGCGTTCTGGAAAGTTC -3'
|
Posted On |
2018-07-24 |