Incidental Mutation 'R3411:Psmc3'
| ID |
267696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psmc3
|
| Ensembl Gene |
ENSMUSG00000002102 |
| Gene Name |
proteasome (prosome, macropain) 26S subunit, ATPase 3 |
| Synonyms |
Tat binding protein 1, TBP-1 |
| MMRRC Submission |
040629-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3411 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
90884361-90889783 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 90886263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 159
(D159A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002171]
[ENSMUST00000067663]
[ENSMUST00000111441]
[ENSMUST00000185715]
|
| AlphaFold |
O88685 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002171
AA Change: D159A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000002171
Gene: ENSMUSG00000002102
AA Change: D159A
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
222 |
361 |
6.65e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067663
AA Change: D159A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000071054
Gene: ENSMUSG00000002102
AA Change: D159A
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
222 |
361 |
6.65e-22 |
SMART |
|
Blast:AAA
|
390 |
436 |
9e-20 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111441
AA Change: D117A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107068
Gene: ENSMUSG00000002102
AA Change: D117A
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
180 |
319 |
6.65e-22 |
SMART |
|
Blast:AAA
|
348 |
394 |
8e-20 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131473
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141462
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145317
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151419
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152269
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185715
AA Change: D140A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139782
Gene: ENSMUSG00000002102
AA Change: D140A
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
203 |
301 |
9e-14 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000146506
AA Change: D141A
|
| SMART Domains |
Protein: ENSMUSP00000121688
Gene: ENSMUSG00000002102
AA Change: D141A
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4CR4|M
|
13 |
183 |
2e-69 |
PDB |
|
Blast:AAA
|
140 |
183 |
1e-20 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146633
|
| Meta Mutation Damage Score |
0.7049 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.6%
|
| 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 one of the ATPase subunits, a member of the triple-A family of ATPases that have chaperone-like activity. This subunit may compete with PSMC2 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. A pseudogene has been identified on chromosome 9. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
A |
T |
12: 81,466,596 (GRCm39) |
V675D |
possibly damaging |
Het |
| Adamts16 |
T |
C |
13: 70,901,345 (GRCm39) |
T911A |
probably benign |
Het |
| Adgra1 |
T |
C |
7: 139,427,619 (GRCm39) |
F62S |
possibly damaging |
Het |
| Adgra3 |
A |
G |
5: 50,159,272 (GRCm39) |
V326A |
probably damaging |
Het |
| Aff1 |
T |
A |
5: 103,902,572 (GRCm39) |
M1K |
probably null |
Het |
| AI429214 |
C |
T |
8: 37,461,071 (GRCm39) |
S73L |
probably benign |
Het |
| Apc |
C |
A |
18: 34,402,312 (GRCm39) |
|
probably benign |
Het |
| Apcs |
T |
C |
1: 172,722,130 (GRCm39) |
Y72C |
probably damaging |
Het |
| Arid4a |
T |
C |
12: 71,108,299 (GRCm39) |
|
probably benign |
Het |
| Armcx4 |
C |
A |
X: 133,591,774 (GRCm39) |
Q561K |
probably benign |
Het |
| Atp5po |
C |
T |
16: 91,725,794 (GRCm39) |
R64H |
probably damaging |
Het |
| Bank1 |
G |
A |
3: 135,953,534 (GRCm39) |
|
probably benign |
Het |
| Ccdc150 |
A |
G |
1: 54,395,932 (GRCm39) |
D805G |
probably benign |
Het |
| Ccdc88a |
T |
A |
11: 29,436,006 (GRCm39) |
C10S |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 30,991,774 (GRCm39) |
M3076K |
possibly damaging |
Het |
| Dnpep |
A |
G |
1: 75,293,270 (GRCm39) |
V33A |
probably damaging |
Het |
| Egfem1 |
C |
T |
3: 29,637,170 (GRCm39) |
T202I |
probably damaging |
Het |
| Fam120b |
T |
A |
17: 15,651,897 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,881,416 (GRCm39) |
T1263A |
possibly damaging |
Het |
| Gm6802 |
C |
A |
12: 19,540,621 (GRCm39) |
|
noncoding transcript |
Het |
| Golga2 |
C |
A |
2: 32,192,954 (GRCm39) |
A424E |
probably damaging |
Het |
| Gpat2 |
G |
A |
2: 127,270,211 (GRCm39) |
V75M |
probably damaging |
Het |
| Grik5 |
T |
C |
7: 24,762,397 (GRCm39) |
D198G |
probably benign |
Het |
| Hcrtr2 |
A |
G |
9: 76,140,290 (GRCm39) |
F333L |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Htr1b |
A |
C |
9: 81,514,094 (GRCm39) |
V171G |
probably benign |
Het |
| Kalrn |
G |
T |
16: 34,032,642 (GRCm39) |
D1117E |
probably benign |
Het |
| Kcp |
T |
C |
6: 29,482,845 (GRCm39) |
N1408S |
possibly damaging |
Het |
| Klhl7 |
G |
T |
5: 24,343,319 (GRCm39) |
V212L |
probably damaging |
Het |
| Klra17 |
T |
A |
6: 129,851,809 (GRCm39) |
N21I |
probably damaging |
Het |
| Lrrc8d |
A |
T |
5: 105,974,572 (GRCm39) |
|
noncoding transcript |
Het |
| Mast2 |
C |
G |
4: 116,168,107 (GRCm39) |
E881Q |
possibly damaging |
Het |
| Mcm6 |
T |
C |
1: 128,279,322 (GRCm39) |
T155A |
probably benign |
Het |
| Mslnl |
T |
C |
17: 25,963,491 (GRCm39) |
F326L |
probably benign |
Het |
| Nlrp4c |
A |
G |
7: 6,095,569 (GRCm39) |
K816E |
possibly damaging |
Het |
| Or10g1 |
T |
A |
14: 52,647,818 (GRCm39) |
R170S |
possibly damaging |
Het |
| Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
| Or5p69 |
A |
T |
7: 107,967,551 (GRCm39) |
I285F |
possibly damaging |
Het |
| Or8k3 |
T |
C |
2: 86,058,986 (GRCm39) |
S110G |
probably benign |
Het |
| Otoa |
A |
G |
7: 120,721,266 (GRCm39) |
Q427R |
probably damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,468,945 (GRCm39) |
E622G |
probably damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,333,845 (GRCm39) |
Y59H |
probably damaging |
Het |
| Ripk4 |
T |
C |
16: 97,545,157 (GRCm39) |
T497A |
probably benign |
Het |
| Rpn2 |
C |
A |
2: 157,132,572 (GRCm39) |
A108E |
possibly damaging |
Het |
| Serpina3n |
A |
G |
12: 104,377,536 (GRCm39) |
E263G |
possibly damaging |
Het |
| Six4 |
A |
G |
12: 73,159,657 (GRCm39) |
F101S |
probably damaging |
Het |
| Slc16a4 |
G |
A |
3: 107,208,188 (GRCm39) |
E233K |
probably benign |
Het |
| Smu1 |
T |
C |
4: 40,752,008 (GRCm39) |
T183A |
probably benign |
Het |
| Sptb |
T |
G |
12: 76,657,589 (GRCm39) |
K1311Q |
possibly damaging |
Het |
| Styxl1 |
T |
C |
5: 135,794,618 (GRCm39) |
Y83C |
probably damaging |
Het |
| Sypl2 |
C |
T |
3: 108,124,045 (GRCm39) |
V166I |
possibly damaging |
Het |
| Tal2 |
A |
G |
4: 53,785,843 (GRCm39) |
N8S |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,501,737 (GRCm39) |
Y1314H |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,772,749 (GRCm39) |
N2415K |
possibly damaging |
Het |
| Usp53 |
T |
C |
3: 122,743,507 (GRCm39) |
|
probably null |
Het |
| Vmn2r65 |
T |
C |
7: 84,595,896 (GRCm39) |
I263V |
probably benign |
Het |
|
| Other mutations in Psmc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
E0370:Psmc3
|
UTSW |
2 |
90,885,463 (GRCm39) |
splice site |
probably null |
|
|
R0747:Psmc3
|
UTSW |
2 |
90,884,645 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1182:Psmc3
|
UTSW |
2 |
90,886,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Psmc3
|
UTSW |
2 |
90,886,340 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1967:Psmc3
|
UTSW |
2 |
90,888,189 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2056:Psmc3
|
UTSW |
2 |
90,888,433 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2484:Psmc3
|
UTSW |
2 |
90,886,346 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3608:Psmc3
|
UTSW |
2 |
90,884,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4917:Psmc3
|
UTSW |
2 |
90,896,317 (GRCm39) |
unclassified |
probably benign |
|
|
R4954:Psmc3
|
UTSW |
2 |
90,885,974 (GRCm39) |
intron |
probably benign |
|
|
R5033:Psmc3
|
UTSW |
2 |
90,884,953 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5073:Psmc3
|
UTSW |
2 |
90,884,915 (GRCm39) |
splice site |
probably benign |
|
|
R5279:Psmc3
|
UTSW |
2 |
90,884,667 (GRCm39) |
missense |
probably benign |
|
|
R5354:Psmc3
|
UTSW |
2 |
90,889,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6169:Psmc3
|
UTSW |
2 |
90,888,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6224:Psmc3
|
UTSW |
2 |
90,884,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7039:Psmc3
|
UTSW |
2 |
90,885,391 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7275:Psmc3
|
UTSW |
2 |
90,886,275 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7962:Psmc3
|
UTSW |
2 |
90,887,007 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCTCCAGTAAGCTGCCTTG -3'
(R):5'- GCACCTGACAGTCTTTGTTTTG -3'
Sequencing Primer
(F):5'- AGTAAGCTGCCTTGCCACTG -3'
(R):5'- CACAGTAAGGGAATACACTCTGGTC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation