Incidental Mutation 'R6687:Psmb5'
ID |
527843 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psmb5
|
Ensembl Gene |
ENSMUSG00000022193 |
Gene Name |
proteasome (prosome, macropain) subunit, beta type 5 |
Synonyms |
|
MMRRC Submission |
044805-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.961)
|
Stock # |
R6687 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
54851577-54855452 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 54854130 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 116
(R116L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022803
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022803]
[ENSMUST00000227257]
[ENSMUST00000228446]
|
AlphaFold |
O55234 |
PDB Structure |
Mouse constitutive 20S proteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse constitutive 20S proteasome [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022803
AA Change: R116L
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000022803 Gene: ENSMUSG00000022193 AA Change: R116L
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
42 |
N/A |
INTRINSIC |
Pfam:Proteasome
|
56 |
238 |
8.3e-50 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000102174
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227257
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228446
|
Meta Mutation Damage Score |
0.6772 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
100% (33/33) |
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 proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit in the proteasome. This catalytic subunit is not present in the immunoproteasome and is replaced by catalytic subunit 3i (proteasome beta 8 subunit). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl4 |
T |
C |
3: 151,248,392 (GRCm39) |
V688A |
probably benign |
Het |
AI661453 |
A |
G |
17: 47,777,927 (GRCm39) |
|
probably benign |
Het |
Atp6ap1l |
A |
G |
13: 91,034,842 (GRCm39) |
F180S |
probably benign |
Het |
Cfd |
G |
A |
10: 79,727,553 (GRCm39) |
V77M |
probably damaging |
Het |
Col5a2 |
A |
T |
1: 45,422,764 (GRCm39) |
L1151H |
probably damaging |
Het |
Dennd3 |
G |
A |
15: 73,428,215 (GRCm39) |
V854M |
possibly damaging |
Het |
Dlg5 |
C |
T |
14: 24,240,441 (GRCm39) |
R247Q |
probably damaging |
Het |
Fam3c |
G |
C |
6: 22,328,669 (GRCm39) |
P53A |
probably benign |
Het |
Gpbp1 |
T |
C |
13: 111,574,619 (GRCm39) |
N302D |
possibly damaging |
Het |
Hmcn1 |
A |
G |
1: 150,620,784 (GRCm39) |
V1142A |
probably benign |
Het |
Ighv9-3 |
G |
A |
12: 114,104,544 (GRCm39) |
S40F |
probably damaging |
Het |
Insr |
C |
T |
8: 3,248,111 (GRCm39) |
R478H |
probably benign |
Het |
Kcna2 |
C |
A |
3: 107,012,343 (GRCm39) |
S308Y |
probably damaging |
Het |
Larp1 |
A |
G |
11: 57,948,156 (GRCm39) |
D985G |
probably damaging |
Het |
Loxl3 |
A |
T |
6: 83,027,645 (GRCm39) |
H729L |
probably damaging |
Het |
Lrrc14b |
T |
C |
13: 74,508,881 (GRCm39) |
M509V |
probably benign |
Het |
Lrrc8e |
A |
G |
8: 4,284,798 (GRCm39) |
Y341C |
probably damaging |
Het |
Mettl18 |
A |
G |
1: 163,824,369 (GRCm39) |
D230G |
possibly damaging |
Het |
Mup12 |
T |
C |
4: 60,697,308 (GRCm39) |
|
probably benign |
Het |
Myo1c |
T |
C |
11: 75,563,027 (GRCm39) |
S1020P |
probably benign |
Het |
Or3a4 |
C |
A |
11: 73,945,210 (GRCm39) |
R125L |
probably damaging |
Het |
Phkb |
T |
C |
8: 86,756,175 (GRCm39) |
I823T |
probably damaging |
Het |
Rpap2 |
T |
C |
5: 107,751,496 (GRCm39) |
|
probably null |
Het |
Rpl38 |
T |
C |
11: 114,559,594 (GRCm39) |
|
probably benign |
Het |
Scn8a |
T |
C |
15: 100,872,508 (GRCm39) |
F516L |
probably benign |
Het |
Slc51a |
A |
T |
16: 32,298,543 (GRCm39) |
D71E |
probably damaging |
Het |
Slco1a6 |
T |
C |
6: 142,045,076 (GRCm39) |
E470G |
possibly damaging |
Het |
Spag17 |
C |
A |
3: 100,000,266 (GRCm39) |
H1811N |
probably benign |
Het |
Sycp2 |
C |
T |
2: 177,996,753 (GRCm39) |
C1150Y |
probably damaging |
Het |
Ttc12 |
A |
G |
9: 49,349,718 (GRCm39) |
V693A |
probably benign |
Het |
Wdr83 |
C |
T |
8: 85,806,778 (GRCm39) |
V101I |
probably benign |
Het |
Wnt3 |
G |
T |
11: 103,703,411 (GRCm39) |
R298L |
probably damaging |
Het |
|
Other mutations in Psmb5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01140:Psmb5
|
APN |
14 |
54,855,264 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02967:Psmb5
|
APN |
14 |
54,854,083 (GRCm39) |
missense |
probably benign |
0.11 |
IGL03095:Psmb5
|
APN |
14 |
54,854,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R2447:Psmb5
|
UTSW |
14 |
54,851,927 (GRCm39) |
missense |
probably damaging |
0.97 |
R5651:Psmb5
|
UTSW |
14 |
54,854,221 (GRCm39) |
missense |
possibly damaging |
0.64 |
R6346:Psmb5
|
UTSW |
14 |
54,854,130 (GRCm39) |
missense |
probably damaging |
0.98 |
R6372:Psmb5
|
UTSW |
14 |
54,854,130 (GRCm39) |
missense |
probably damaging |
0.98 |
R6657:Psmb5
|
UTSW |
14 |
54,851,840 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6688:Psmb5
|
UTSW |
14 |
54,854,130 (GRCm39) |
missense |
probably damaging |
0.98 |
R6752:Psmb5
|
UTSW |
14 |
54,854,212 (GRCm39) |
missense |
probably benign |
0.00 |
R7007:Psmb5
|
UTSW |
14 |
54,854,166 (GRCm39) |
missense |
probably damaging |
0.99 |
R7801:Psmb5
|
UTSW |
14 |
54,854,212 (GRCm39) |
missense |
probably benign |
0.00 |
R8066:Psmb5
|
UTSW |
14 |
54,851,698 (GRCm39) |
missense |
probably benign |
0.00 |
R8278:Psmb5
|
UTSW |
14 |
54,855,342 (GRCm39) |
missense |
probably benign |
0.13 |
R8497:Psmb5
|
UTSW |
14 |
54,851,837 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8728:Psmb5
|
UTSW |
14 |
54,855,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCTCACAGGACACAACTC -3'
(R):5'- GCAAAGCCAGGTTATCTTTCTG -3'
Sequencing Primer
(F):5'- ACTCACCAGGGCCTCTC -3'
(R):5'- TGGTCTTACGGGGCCTCTC -3'
|
Posted On |
2018-07-23 |