Incidental Mutation 'R3606:Psmd3'
| ID |
269094 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psmd3
|
| Ensembl Gene |
ENSMUSG00000017221 |
| Gene Name |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 |
| Synonyms |
Tstap91a, AntP91a, Psd3 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R3606 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
98573380-98586804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 98581780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 302
(R302W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017365]
|
| AlphaFold |
P14685 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017365
AA Change: R302W
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000017365
Gene: ENSMUSG00000017221
AA Change: R302W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
51 |
N/A |
INTRINSIC |
|
PAM
|
217 |
389 |
1.07e-68 |
SMART |
|
PINT
|
389 |
479 |
3.26e-27 |
SMART |
|
coiled coil region
|
495 |
527 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000123676
AA Change: R86W
|
| SMART Domains |
Protein: ENSMUSP00000116968
Gene: ENSMUSG00000017221
AA Change: R86W
| Domain | Start | End | E-Value | Type |
|---|
|
PAM
|
2 |
198 |
2.1e-62 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142790
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149489
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152102
|
| Meta Mutation Damage Score |
0.3298 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.8%
|
| 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. This gene encodes a member of the proteasome subunit S3 family that functions as one of the non-ATPase subunits of the 19S regulator lid. Single nucleotide polymorphisms in this gene are associated with neutrophil count. [provided by RefSeq, Jul 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid4b |
T |
C |
13: 14,294,826 (GRCm39) |
V36A |
probably damaging |
Het |
| Cd101 |
A |
T |
3: 100,927,913 (GRCm39) |
I56N |
probably damaging |
Het |
| Cs |
A |
T |
10: 128,195,892 (GRCm39) |
H367L |
probably benign |
Het |
| Ddb1 |
A |
G |
19: 10,605,857 (GRCm39) |
E1095G |
probably damaging |
Het |
| Fgfrl1 |
C |
A |
5: 108,853,289 (GRCm39) |
T213K |
probably damaging |
Het |
| Ift70a1 |
T |
C |
2: 75,811,621 (GRCm39) |
D154G |
probably benign |
Het |
| Kprp |
C |
A |
3: 92,731,588 (GRCm39) |
Q487H |
unknown |
Het |
| Myom2 |
T |
C |
8: 15,119,775 (GRCm39) |
V177A |
probably damaging |
Het |
| Nelfcd |
A |
G |
2: 174,268,337 (GRCm39) |
Y525C |
probably benign |
Het |
| Or2t49 |
C |
T |
11: 58,392,957 (GRCm39) |
V148M |
possibly damaging |
Het |
| Or5i1 |
C |
A |
2: 87,613,551 (GRCm39) |
F222L |
probably benign |
Het |
| Pcdhgc5 |
A |
G |
18: 37,953,560 (GRCm39) |
D278G |
probably benign |
Het |
| Peg3 |
T |
C |
7: 6,711,508 (GRCm39) |
E1238G |
probably damaging |
Het |
| Plekha7 |
T |
C |
7: 115,763,477 (GRCm39) |
D313G |
possibly damaging |
Het |
| Ppp1r9a |
A |
G |
6: 5,113,674 (GRCm39) |
N726S |
possibly damaging |
Het |
| Ptbp2 |
A |
G |
3: 119,541,281 (GRCm39) |
L223P |
probably damaging |
Het |
| Ranbp10 |
A |
G |
8: 106,502,667 (GRCm39) |
S300P |
probably benign |
Het |
| Rundc3b |
A |
T |
5: 8,562,386 (GRCm39) |
D327E |
probably damaging |
Het |
| Tsr1 |
T |
C |
11: 74,796,059 (GRCm39) |
S562P |
probably benign |
Het |
| Ube3c |
A |
G |
5: 29,803,936 (GRCm39) |
T180A |
possibly damaging |
Het |
|
| Other mutations in Psmd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00957:Psmd3
|
APN |
11 |
98,576,394 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01353:Psmd3
|
APN |
11 |
98,581,426 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1368:Psmd3
|
UTSW |
11 |
98,573,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1563:Psmd3
|
UTSW |
11 |
98,585,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2258:Psmd3
|
UTSW |
11 |
98,581,790 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2259:Psmd3
|
UTSW |
11 |
98,581,790 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3607:Psmd3
|
UTSW |
11 |
98,581,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4616:Psmd3
|
UTSW |
11 |
98,573,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4833:Psmd3
|
UTSW |
11 |
98,578,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5033:Psmd3
|
UTSW |
11 |
98,573,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5585:Psmd3
|
UTSW |
11 |
98,573,707 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R5687:Psmd3
|
UTSW |
11 |
98,584,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5929:Psmd3
|
UTSW |
11 |
98,586,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6028:Psmd3
|
UTSW |
11 |
98,576,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6240:Psmd3
|
UTSW |
11 |
98,584,479 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6449:Psmd3
|
UTSW |
11 |
98,576,466 (GRCm39) |
missense |
probably benign |
|
|
R6956:Psmd3
|
UTSW |
11 |
98,586,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7009:Psmd3
|
UTSW |
11 |
98,573,592 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7051:Psmd3
|
UTSW |
11 |
98,573,659 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7401:Psmd3
|
UTSW |
11 |
98,576,466 (GRCm39) |
missense |
probably benign |
|
|
R7449:Psmd3
|
UTSW |
11 |
98,586,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7549:Psmd3
|
UTSW |
11 |
98,581,787 (GRCm39) |
missense |
probably benign |
0.38 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCAGATAGGCACATGAGG -3'
(R):5'- TGGCAACTCCGACACTGATAG -3'
Sequencing Primer
(F):5'- GGCCTGCACATGGGATAATCTAC -3'
(R):5'- TCCGACACTGATAGCCGAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation