Incidental Mutation 'R4479:Psma3'
| ID |
331408 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psma3
|
| Ensembl Gene |
ENSMUSG00000060073 |
| Gene Name |
proteasome subunit alpha 3 |
| Synonyms |
Lmpc8 |
| MMRRC Submission |
041736-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R4479 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
71021395-71043121 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 71031555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071704]
[ENSMUST00000160027]
[ENSMUST00000160864]
[ENSMUST00000162626]
[ENSMUST00000162851]
|
| AlphaFold |
O70435 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071704
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160027
|
| SMART Domains |
Protein: ENSMUSP00000125548
Gene: ENSMUSG00000060073
| Domain | Start | End | E-Value | Type |
|---|
|
Proteasome_A_N
|
8 |
30 |
9.72e-9 |
SMART |
|
Pfam:Proteasome
|
31 |
217 |
6.2e-53 |
PFAM |
|
low complexity region
|
241 |
253 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160683
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160864
|
| SMART Domains |
Protein: ENSMUSP00000124894
Gene: ENSMUSG00000060073
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
1 |
142 |
1.7e-38 |
PFAM |
|
low complexity region
|
166 |
178 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162626
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162851
|
| SMART Domains |
Protein: ENSMUSP00000124082
Gene: ENSMUSG00000060073
| Domain | Start | End | E-Value | Type |
|---|
|
Proteasome_A_N
|
8 |
30 |
9.72e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162898
|
| SMART Domains |
Protein: ENSMUSP00000125490
Gene: ENSMUSG00000060073
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
1 |
53 |
3.3e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163035
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
95% (36/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure 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. 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 member of the peptidase T1A family, that is a 20S core alpha subunit. Two alternative transcripts encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,654,663 (GRCm39) |
T553A |
possibly damaging |
Het |
| Adamts20 |
C |
T |
15: 94,301,326 (GRCm39) |
R66H |
probably damaging |
Het |
| Anks1b |
A |
G |
10: 89,885,754 (GRCm39) |
E150G |
probably damaging |
Het |
| Chp2 |
A |
G |
7: 121,820,141 (GRCm39) |
D97G |
probably benign |
Het |
| Cnbd2 |
T |
C |
2: 156,175,573 (GRCm39) |
|
probably benign |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,155 (GRCm39) |
H187N |
possibly damaging |
Het |
| Dusp15 |
A |
G |
2: 152,786,102 (GRCm39) |
L135P |
probably damaging |
Het |
| Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
| Erlin2 |
G |
T |
8: 27,515,127 (GRCm39) |
V10L |
probably benign |
Het |
| F830104G03Rik |
A |
G |
3: 56,797,634 (GRCm39) |
S98P |
unknown |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Gm3159 |
T |
C |
14: 4,398,584 (GRCm38) |
Y92H |
probably damaging |
Het |
| Ighv1-22 |
G |
T |
12: 114,710,283 (GRCm39) |
A15E |
possibly damaging |
Het |
| Ints4 |
T |
C |
7: 97,134,178 (GRCm39) |
S37P |
probably damaging |
Het |
| Irs1 |
G |
A |
1: 82,265,015 (GRCm39) |
T1067I |
probably damaging |
Het |
| Lrrc28 |
C |
T |
7: 67,181,362 (GRCm39) |
|
probably null |
Het |
| Or10v1 |
A |
G |
19: 11,873,922 (GRCm39) |
Y179C |
probably damaging |
Het |
| Or4a71 |
A |
G |
2: 89,358,514 (GRCm39) |
I80T |
possibly damaging |
Het |
| Or5ac24 |
G |
A |
16: 59,165,230 (GRCm39) |
T278I |
probably damaging |
Het |
| Psg18 |
C |
T |
7: 18,084,787 (GRCm39) |
S103N |
probably benign |
Het |
| Slc7a11 |
T |
C |
3: 50,372,412 (GRCm39) |
|
probably benign |
Het |
| Tas2r115 |
T |
C |
6: 132,714,495 (GRCm39) |
D152G |
probably damaging |
Het |
| Tti1 |
A |
T |
2: 157,850,315 (GRCm39) |
L308Q |
possibly damaging |
Het |
| Unc93b1 |
G |
A |
19: 3,985,236 (GRCm39) |
A15T |
probably benign |
Het |
| Usp43 |
G |
A |
11: 67,747,233 (GRCm39) |
R820C |
possibly damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vps8 |
A |
T |
16: 21,363,986 (GRCm39) |
|
probably benign |
Het |
| Wdr73 |
T |
C |
7: 80,542,969 (GRCm39) |
E213G |
probably benign |
Het |
| Zfp286 |
C |
G |
11: 62,671,030 (GRCm39) |
G348R |
probably damaging |
Het |
| Zkscan5 |
T |
C |
5: 145,147,984 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Psma3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01898:Psma3
|
APN |
12 |
71,031,448 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0316:Psma3
|
UTSW |
12 |
71,030,163 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0669:Psma3
|
UTSW |
12 |
71,035,269 (GRCm39) |
splice site |
probably benign |
|
|
R1933:Psma3
|
UTSW |
12 |
71,031,468 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2288:Psma3
|
UTSW |
12 |
71,041,145 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3745:Psma3
|
UTSW |
12 |
71,025,522 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5260:Psma3
|
UTSW |
12 |
71,031,416 (GRCm39) |
unclassified |
probably benign |
|
|
R5384:Psma3
|
UTSW |
12 |
71,021,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5457:Psma3
|
UTSW |
12 |
71,031,339 (GRCm39) |
missense |
probably benign |
|
|
R5794:Psma3
|
UTSW |
12 |
71,037,271 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8348:Psma3
|
UTSW |
12 |
71,035,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8448:Psma3
|
UTSW |
12 |
71,035,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8814:Psma3
|
UTSW |
12 |
71,025,580 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9275:Psma3
|
UTSW |
12 |
71,041,156 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9278:Psma3
|
UTSW |
12 |
71,041,156 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTAGGTCCAACTTCGGCTATAAC -3'
(R):5'- CCTGGTGAGAAGCTGATCTG -3'
Sequencing Primer
(F):5'- AGGTCCAACTTCGGCTATAACATTCC -3'
(R):5'- CTGGTGAGAAGCTGATCTGGGAAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation