Incidental Mutation 'R5585:Psmd3'
ID |
438668 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psmd3
|
Ensembl Gene |
ENSMUSG00000017221 |
Gene Name |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 |
Synonyms |
Tstap91a, AntP91a, Psd3 |
MMRRC Submission |
043139-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R5585 (G1)
|
Quality Score |
127 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
98573380-98586804 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 98573707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 51
(G51D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017365
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017365]
|
AlphaFold |
P14685 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017365
AA Change: G51D
PolyPhen 2
Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000017365 Gene: ENSMUSG00000017221 AA Change: G51D
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 |
noncoding transcript
Transcript: ENSMUST00000122854
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123676
|
SMART Domains |
Protein: ENSMUSP00000116968 Gene: ENSMUSG00000017221
Domain | Start | End | E-Value | Type |
PAM
|
2 |
198 |
2.1e-62 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149489
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152102
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600014C23Rik |
A |
T |
17: 46,044,670 (GRCm39) |
I17N |
unknown |
Het |
4932414N04Rik |
A |
G |
2: 68,571,770 (GRCm39) |
T549A |
probably benign |
Het |
9330159F19Rik |
C |
A |
10: 29,101,271 (GRCm39) |
S548Y |
possibly damaging |
Het |
Aanat |
A |
G |
11: 116,487,799 (GRCm39) |
Y166C |
probably damaging |
Het |
Adra2a |
G |
T |
19: 54,034,670 (GRCm39) |
A9S |
probably benign |
Het |
Ap4m1 |
A |
G |
5: 138,170,502 (GRCm39) |
Y17C |
probably damaging |
Het |
Arhgap33 |
T |
G |
7: 30,223,260 (GRCm39) |
M891L |
probably benign |
Het |
Calm5 |
A |
G |
13: 3,904,372 (GRCm39) |
D22G |
possibly damaging |
Het |
Ccdc15 |
C |
T |
9: 37,188,699 (GRCm39) |
R795H |
probably benign |
Het |
Cngb1 |
T |
A |
8: 95,989,767 (GRCm39) |
I323F |
probably damaging |
Het |
Cyp26b1 |
A |
G |
6: 84,554,171 (GRCm39) |
F74L |
probably damaging |
Het |
Dpagt1 |
G |
A |
9: 44,240,439 (GRCm39) |
|
probably null |
Het |
Ercc8 |
C |
T |
13: 108,312,123 (GRCm39) |
P196S |
probably damaging |
Het |
Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
Hfm1 |
G |
A |
5: 107,059,305 (GRCm39) |
S239L |
probably benign |
Het |
Hgf |
A |
G |
5: 16,769,799 (GRCm39) |
D91G |
possibly damaging |
Het |
Lefty2 |
T |
A |
1: 180,720,828 (GRCm39) |
V27D |
possibly damaging |
Het |
Lrp2 |
G |
A |
2: 69,294,968 (GRCm39) |
T3450I |
possibly damaging |
Het |
Lrrc38 |
A |
G |
4: 143,076,961 (GRCm39) |
I75V |
probably damaging |
Het |
Ncor2 |
C |
A |
5: 125,144,975 (GRCm39) |
E556* |
probably null |
Het |
Nedd9 |
A |
G |
13: 41,469,950 (GRCm39) |
L401P |
probably damaging |
Het |
Nfatc4 |
T |
C |
14: 56,064,212 (GRCm39) |
L163P |
probably damaging |
Het |
Nln |
T |
C |
13: 104,161,569 (GRCm39) |
N667S |
possibly damaging |
Het |
Or5w20 |
A |
G |
2: 87,727,019 (GRCm39) |
T159A |
possibly damaging |
Het |
Pnpla8 |
T |
C |
12: 44,329,847 (GRCm39) |
I133T |
probably benign |
Het |
Psma1 |
C |
T |
7: 113,873,302 (GRCm39) |
G12S |
probably damaging |
Het |
Ptprb |
A |
G |
10: 116,216,759 (GRCm39) |
Q1959R |
probably damaging |
Het |
Rhbdf1 |
A |
G |
11: 32,160,222 (GRCm39) |
|
probably null |
Het |
Rnf167 |
T |
C |
11: 70,540,308 (GRCm39) |
V110A |
probably damaging |
Het |
Rrp9 |
C |
T |
9: 106,362,525 (GRCm39) |
S470F |
probably benign |
Het |
Rtn3 |
G |
A |
19: 7,435,560 (GRCm39) |
P125L |
probably benign |
Het |
Scube1 |
C |
T |
15: 83,561,124 (GRCm39) |
C156Y |
probably damaging |
Het |
Tgm2 |
A |
T |
2: 157,973,375 (GRCm39) |
Y245* |
probably null |
Het |
Timeless |
T |
C |
10: 128,076,112 (GRCm39) |
I68T |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,645,054 (GRCm39) |
S12934P |
probably damaging |
Het |
Vwa5b2 |
T |
A |
16: 20,413,428 (GRCm39) |
Y214* |
probably null |
Het |
Yars2 |
T |
A |
16: 16,122,484 (GRCm39) |
N7K |
probably damaging |
Het |
Zfp142 |
G |
A |
1: 74,617,404 (GRCm39) |
Q150* |
probably null |
Het |
Zfp995 |
C |
T |
17: 22,106,339 (GRCm39) |
|
probably benign |
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 |
R3606:Psmd3
|
UTSW |
11 |
98,581,780 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TTTGCAGCTGCTCGGTCATC -3'
(R):5'- GAGAACAGGTTCGGTCATCG -3'
Sequencing Primer
(F):5'- TGAGGGTTTACGCGAGGCC -3'
(R):5'- TGACCCCAGCTCCATTGAC -3'
|
Posted On |
2016-10-26 |