Incidental Mutation 'R8239:Psmd13'
ID |
637505 |
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 |
067646-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.965)
|
Stock # |
R8239 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
140462307-140478555 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 140466450 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 79
(I79K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026560
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026559]
[ENSMUST00000026560]
[ENSMUST00000106048]
[ENSMUST00000137710]
[ENSMUST00000147331]
[ENSMUST00000163610]
[ENSMUST00000164681]
[ENSMUST00000166889]
[ENSMUST00000210296]
[ENSMUST00000211179]
|
AlphaFold |
Q9WVJ2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026559
|
SMART Domains |
Protein: ENSMUSP00000026559 Gene: ENSMUSG00000025486
Domain | Start | End | E-Value | Type |
Pfam:SIR2
|
3 |
184 |
5.3e-57 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026560
AA Change: I79K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000026560 Gene: ENSMUSG00000025487 AA Change: I79K
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
14 |
N/A |
INTRINSIC |
PINT
|
263 |
356 |
2.26e-21 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106048
|
SMART Domains |
Protein: ENSMUSP00000101663 Gene: ENSMUSG00000025486
Domain | Start | End | E-Value | Type |
Pfam:SIR2
|
3 |
184 |
8.7e-57 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130462
|
SMART Domains |
Protein: ENSMUSP00000126160 Gene: ENSMUSG00000025487
Domain | Start | End | E-Value | Type |
PINT
|
100 |
189 |
6.59e-14 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137710
|
SMART Domains |
Protein: ENSMUSP00000115202 Gene: ENSMUSG00000025486
Domain | Start | End | E-Value | Type |
Pfam:SIR2
|
3 |
99 |
1.2e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147331
|
SMART Domains |
Protein: ENSMUSP00000121151 Gene: ENSMUSG00000025486
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
36 |
N/A |
INTRINSIC |
low complexity region
|
43 |
54 |
N/A |
INTRINSIC |
Pfam:SIR2
|
80 |
258 |
1.9e-54 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163610
AA Change: I79K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000130580 Gene: ENSMUSG00000025487 AA Change: I79K
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 |
probably damaging
Transcript: ENSMUST00000164681
AA Change: I79K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132405 Gene: ENSMUSG00000025487 AA Change: I79K
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 |
possibly damaging
Transcript: ENSMUST00000166889
AA Change: N67K
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000126532 Gene: ENSMUSG00000025487 AA Change: N67K
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
14 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210296
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211179
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.9%
|
Validation Efficiency |
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam39 |
T |
C |
8: 41,278,106 (GRCm39) |
S166P |
probably damaging |
Het |
Appl1 |
T |
A |
14: 26,686,914 (GRCm39) |
T19S |
probably damaging |
Het |
Arid4b |
T |
A |
13: 14,344,594 (GRCm39) |
D557E |
probably benign |
Het |
Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
C2cd2l |
T |
C |
9: 44,227,502 (GRCm39) |
E307G |
possibly damaging |
Het |
Cdh20 |
A |
C |
1: 110,027,832 (GRCm39) |
T526P |
probably benign |
Het |
Dchs1 |
C |
T |
7: 105,414,718 (GRCm39) |
V775M |
probably benign |
Het |
Dennd1b |
A |
G |
1: 138,969,673 (GRCm39) |
N63S |
probably benign |
Het |
Dtnb |
A |
T |
12: 3,694,056 (GRCm39) |
Y248F |
unknown |
Het |
Ehbp1l1 |
T |
A |
19: 5,770,089 (GRCm39) |
T405S |
possibly damaging |
Het |
Fam149a |
A |
G |
8: 45,803,490 (GRCm39) |
Y415H |
possibly damaging |
Het |
Fam186a |
A |
G |
15: 99,839,191 (GRCm39) |
L2351P |
unknown |
Het |
Fsip2 |
T |
G |
2: 82,819,687 (GRCm39) |
I5140S |
possibly damaging |
Het |
Gm8674 |
T |
C |
13: 50,054,262 (GRCm39) |
T749A |
noncoding transcript |
Het |
Kalrn |
A |
G |
16: 33,870,153 (GRCm39) |
V1894A |
noncoding transcript |
Het |
Kpna3 |
A |
T |
14: 61,624,919 (GRCm39) |
N141K |
probably damaging |
Het |
Lrba |
G |
A |
3: 86,449,882 (GRCm39) |
G2067D |
probably damaging |
Het |
Lrp2 |
G |
T |
2: 69,311,611 (GRCm39) |
Y2622* |
probably null |
Het |
Lrtm2 |
A |
C |
6: 119,297,778 (GRCm39) |
F88V |
probably damaging |
Het |
Mboat1 |
T |
C |
13: 30,429,333 (GRCm39) |
S454P |
probably damaging |
Het |
Nkpd1 |
C |
T |
7: 19,253,753 (GRCm39) |
P40S |
probably benign |
Het |
Or2b7 |
T |
C |
13: 21,739,788 (GRCm39) |
I135V |
probably benign |
Het |
Or4a76 |
T |
A |
2: 89,460,907 (GRCm39) |
I112F |
probably damaging |
Het |
Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
Or8k27 |
C |
A |
2: 86,275,473 (GRCm39) |
M284I |
noncoding transcript |
Het |
Patj |
A |
G |
4: 98,570,308 (GRCm39) |
E1711G |
possibly damaging |
Het |
Pcdha4 |
A |
T |
18: 37,086,128 (GRCm39) |
I104F |
probably damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Plekhg4 |
C |
T |
8: 106,107,546 (GRCm39) |
R990* |
probably null |
Het |
Pphln1 |
T |
C |
15: 93,386,930 (GRCm39) |
S343P |
probably benign |
Het |
Pram1 |
A |
T |
17: 33,860,241 (GRCm39) |
K269N |
probably damaging |
Het |
Ptprf |
T |
C |
4: 118,069,309 (GRCm39) |
D1586G |
possibly damaging |
Het |
Ptprh |
T |
A |
7: 4,584,090 (GRCm39) |
Q167H |
probably damaging |
Het |
Rbm46 |
C |
T |
3: 82,772,775 (GRCm39) |
R119Q |
probably benign |
Het |
Rreb1 |
T |
C |
13: 38,077,848 (GRCm39) |
M20T |
probably damaging |
Het |
Scrn2 |
T |
G |
11: 96,923,046 (GRCm39) |
L163R |
probably damaging |
Het |
Slc36a3 |
C |
T |
11: 55,022,433 (GRCm39) |
V254I |
probably benign |
Het |
Slc6a6 |
T |
C |
6: 91,701,951 (GRCm39) |
F120L |
probably benign |
Het |
Slc8a2 |
A |
T |
7: 15,879,230 (GRCm39) |
H572L |
probably benign |
Het |
Spats2 |
T |
A |
15: 99,106,776 (GRCm39) |
D357E |
probably damaging |
Het |
Speg |
A |
T |
1: 75,395,677 (GRCm39) |
N1816I |
probably damaging |
Het |
Sult2b1 |
A |
G |
7: 45,433,361 (GRCm39) |
V2A |
unknown |
Het |
Susd3 |
T |
C |
13: 49,384,731 (GRCm39) |
T231A |
probably benign |
Het |
Tamalin |
C |
T |
15: 101,128,902 (GRCm39) |
L217F |
probably damaging |
Het |
Tcp1 |
A |
G |
17: 13,139,738 (GRCm39) |
D261G |
probably benign |
Het |
Trpm2 |
C |
G |
10: 77,771,836 (GRCm39) |
S601T |
probably benign |
Het |
Ugt2b38 |
A |
T |
5: 87,571,659 (GRCm39) |
F124L |
probably benign |
Het |
Unc80 |
G |
T |
1: 66,693,178 (GRCm39) |
E2522D |
probably benign |
Het |
Usp34 |
A |
G |
11: 23,396,750 (GRCm39) |
T2365A |
|
Het |
Vmn2r92 |
G |
T |
17: 18,405,278 (GRCm39) |
M807I |
probably benign |
Het |
Vps13b |
C |
A |
15: 35,597,550 (GRCm39) |
P1030Q |
probably damaging |
Het |
Wrn |
T |
G |
8: 33,819,213 (GRCm39) |
K246N |
probably damaging |
Het |
Zer1 |
T |
A |
2: 29,991,147 (GRCm39) |
|
probably null |
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 |
|
R6700:Psmd13
|
UTSW |
7 |
140,470,522 (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'- ATGCAGCTTCTGGAGTCTGG -3'
(R):5'- AAGCAGTTAACAGTTCCCTCTCTC -3'
Sequencing Primer
(F):5'- GGGCTCGTGCTGTACTAATTCTC -3'
(R):5'- CTCTCTCCGATCATTACAAAAATCTC -3'
|
Posted On |
2020-07-13 |