Incidental Mutation 'R6224:Psmc3'
ID |
504178 |
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 |
044355-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6224 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
90884361-90889783 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 90884975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 47
(R47L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002171]
[ENSMUST00000067663]
[ENSMUST00000111441]
[ENSMUST00000185715]
|
AlphaFold |
O88685 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002171
AA Change: R47L
PolyPhen 2
Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000002171 Gene: ENSMUSG00000002102 AA Change: R47L
Domain | Start | End | E-Value | Type |
AAA
|
222 |
361 |
6.65e-22 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000067663
AA Change: R47L
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000071054 Gene: ENSMUSG00000002102 AA Change: R47L
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: R47L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107068 Gene: ENSMUSG00000002102 AA Change: R47L
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 |
probably benign
Transcript: ENSMUST00000185715
AA Change: R28L
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000139782 Gene: ENSMUSG00000002102 AA Change: R28L
Domain | Start | End | E-Value | Type |
AAA
|
203 |
301 |
9e-14 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000146506
AA Change: R29L
|
SMART Domains |
Protein: ENSMUSP00000121688 Gene: ENSMUSG00000002102 AA Change: R29L
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152269
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145317
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151419
|
Meta Mutation Damage Score |
0.4795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (55/55) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300003K06Rik |
A |
C |
11: 99,728,840 (GRCm39) |
M1R |
probably null |
Het |
4930505A04Rik |
A |
C |
11: 30,404,815 (GRCm39) |
N29K |
probably benign |
Het |
Adamtsl4 |
T |
C |
3: 95,589,039 (GRCm39) |
Y464C |
probably damaging |
Het |
Asgr2 |
T |
C |
11: 69,989,072 (GRCm39) |
V172A |
probably damaging |
Het |
Atad1 |
T |
C |
19: 32,676,028 (GRCm39) |
Y132C |
probably damaging |
Het |
Bpifa6 |
G |
A |
2: 153,829,073 (GRCm39) |
R200H |
probably damaging |
Het |
Brd1 |
A |
T |
15: 88,572,558 (GRCm39) |
M1171K |
possibly damaging |
Het |
Cadm2 |
A |
T |
16: 66,461,281 (GRCm39) |
L392Q |
probably damaging |
Het |
Ccdc183 |
C |
T |
2: 25,500,594 (GRCm39) |
E333K |
possibly damaging |
Het |
Cenpe |
T |
C |
3: 134,949,536 (GRCm39) |
I1335T |
possibly damaging |
Het |
Cpxm2 |
T |
C |
7: 131,745,460 (GRCm39) |
N122D |
probably benign |
Het |
Crls1 |
T |
A |
2: 132,691,770 (GRCm39) |
|
probably null |
Het |
Cyp46a1 |
T |
C |
12: 108,327,819 (GRCm39) |
F460S |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dcps |
T |
A |
9: 35,047,777 (GRCm39) |
T128S |
probably benign |
Het |
Dcun1d3 |
A |
T |
7: 119,458,714 (GRCm39) |
L107* |
probably null |
Het |
Eml1 |
T |
C |
12: 108,480,767 (GRCm39) |
F397S |
probably damaging |
Het |
Fanca |
T |
A |
8: 124,032,020 (GRCm39) |
H348L |
possibly damaging |
Het |
Foxo1 |
T |
A |
3: 52,253,093 (GRCm39) |
S419T |
probably benign |
Het |
Gli3 |
T |
C |
13: 15,899,730 (GRCm39) |
V1039A |
probably benign |
Het |
Gng14 |
A |
T |
8: 85,794,220 (GRCm39) |
*73R |
probably null |
Het |
Gp6 |
A |
T |
7: 4,397,211 (GRCm39) |
F75I |
probably benign |
Het |
Gpha2 |
T |
A |
19: 6,277,142 (GRCm39) |
I81N |
possibly damaging |
Het |
Gspt1 |
C |
A |
16: 11,042,406 (GRCm39) |
V493L |
probably benign |
Het |
Igsf10 |
C |
A |
3: 59,232,931 (GRCm39) |
C1934F |
probably damaging |
Het |
Irgm1 |
T |
C |
11: 48,757,713 (GRCm39) |
T49A |
probably benign |
Het |
Klc4 |
A |
G |
17: 46,950,988 (GRCm39) |
I207T |
possibly damaging |
Het |
Krt1 |
A |
T |
15: 101,758,702 (GRCm39) |
V154D |
possibly damaging |
Het |
Lama1 |
T |
C |
17: 68,109,982 (GRCm39) |
V2201A |
possibly damaging |
Het |
Lilrb4a |
T |
A |
10: 51,367,745 (GRCm39) |
Y96N |
probably damaging |
Het |
Lrfn2 |
A |
G |
17: 49,403,379 (GRCm39) |
T501A |
probably damaging |
Het |
Lrriq1 |
A |
G |
10: 103,051,618 (GRCm39) |
I378T |
probably damaging |
Het |
Mphosph8 |
T |
C |
14: 56,905,810 (GRCm39) |
M1T |
probably null |
Het |
Nsd1 |
T |
C |
13: 55,460,945 (GRCm39) |
S2391P |
possibly damaging |
Het |
Ogdhl |
G |
A |
14: 32,064,018 (GRCm39) |
G647D |
probably benign |
Het |
Or5p57 |
T |
C |
7: 107,665,949 (GRCm39) |
I19V |
probably benign |
Het |
Or6c76b |
A |
G |
10: 129,693,061 (GRCm39) |
K225E |
probably benign |
Het |
Pbrm1 |
T |
A |
14: 30,772,068 (GRCm39) |
H387Q |
probably benign |
Het |
Pdgfrb |
C |
A |
18: 61,215,011 (GRCm39) |
Y1013* |
probably null |
Het |
Pitrm1 |
T |
C |
13: 6,615,090 (GRCm39) |
V562A |
probably damaging |
Het |
Pnpla8 |
T |
C |
12: 44,329,811 (GRCm39) |
V121A |
possibly damaging |
Het |
Psd4 |
T |
C |
2: 24,291,569 (GRCm39) |
L639P |
probably damaging |
Het |
Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
Sesn2 |
A |
G |
4: 132,229,881 (GRCm39) |
V50A |
probably benign |
Het |
Skic3 |
C |
T |
13: 76,266,410 (GRCm39) |
T219M |
probably benign |
Het |
Slc6a16 |
G |
A |
7: 44,910,572 (GRCm39) |
G377S |
probably damaging |
Het |
Slitrk1 |
A |
G |
14: 109,149,454 (GRCm39) |
F419S |
probably damaging |
Het |
Slitrk5 |
GACTAC |
GACTACTAC |
14: 111,917,248 (GRCm39) |
|
probably benign |
Het |
Spata31d1a |
T |
A |
13: 59,854,134 (GRCm39) |
|
probably benign |
Homo |
Tgoln1 |
A |
T |
6: 72,592,984 (GRCm39) |
D165E |
possibly damaging |
Het |
Tmprss15 |
T |
A |
16: 78,821,266 (GRCm39) |
T492S |
probably benign |
Het |
Zc3h13 |
T |
A |
14: 75,574,849 (GRCm39) |
M1565K |
probably damaging |
Het |
Zcwpw1 |
T |
C |
5: 137,810,298 (GRCm39) |
V358A |
possibly damaging |
Het |
Zfp607a |
A |
G |
7: 27,578,007 (GRCm39) |
H359R |
probably damaging |
Het |
Zzef1 |
T |
A |
11: 72,746,209 (GRCm39) |
V837E |
probably damaging |
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 |
R3411:Psmc3
|
UTSW |
2 |
90,886,263 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- CAGAGCTTCTTGGGTTGTCC -3'
(R):5'- TACATGTCCAAACTGCAGAGGTC -3'
Sequencing Primer
(F):5'- GGGTTGTCCCGACTTCATC -3'
(R):5'- CCAGTGGGAAAACCTCCTG -3'
|
Posted On |
2018-02-28 |