Incidental Mutation 'R5731:Psmb7'
| ID |
452742 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psmb7
|
| Ensembl Gene |
ENSMUSG00000026750 |
| Gene Name |
proteasome (prosome, macropain) subunit, beta type 7 |
| Synonyms |
MC14 |
| MMRRC Submission |
043192-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R5731 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
38478058-38533964 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38478289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 245
(Y245C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028083]
[ENSMUST00000054234]
[ENSMUST00000112895]
[ENSMUST00000112902]
|
| AlphaFold |
P70195 |
| 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: ENSMUST00000028083
AA Change: Y245C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028083
Gene: ENSMUSG00000026750
AA Change: Y245C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
40 |
221 |
5.4e-52 |
PFAM |
|
Pfam:Pr_beta_C
|
235 |
271 |
2e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054234
|
| SMART Domains |
Protein: ENSMUSP00000049723
Gene: ENSMUSG00000026749
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
45 |
310 |
3.01e-91 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112895
|
| SMART Domains |
Protein: ENSMUSP00000108516
Gene: ENSMUSG00000026749
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
45 |
310 |
3.01e-91 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112902
|
| SMART Domains |
Protein: ENSMUSP00000108523
Gene: ENSMUSG00000026749
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
34 |
299 |
3.01e-91 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
|
| 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. The encoded protein is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core beta subunit in the proteasome. Expression of this catalytic subunit is downregulated by gamma interferon, and proteolytic processing is required to generate a mature subunit. A pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Jul 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5930422O12Rik |
A |
G |
8: 33,919,353 (GRCm39) |
I58V |
unknown |
Het |
| Abca4 |
G |
T |
3: 121,926,242 (GRCm39) |
G18V |
probably damaging |
Het |
| Arl9 |
T |
C |
5: 77,154,374 (GRCm39) |
V34A |
possibly damaging |
Het |
| Bpifb9a |
A |
T |
2: 154,104,163 (GRCm39) |
N202I |
possibly damaging |
Het |
| C1qtnf6 |
A |
T |
15: 78,411,514 (GRCm39) |
M54K |
probably benign |
Het |
| Ccdc62 |
T |
C |
5: 124,089,352 (GRCm39) |
|
probably null |
Het |
| Cd177 |
A |
G |
7: 24,443,846 (GRCm39) |
C751R |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,375,923 (GRCm39) |
I657V |
possibly damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Dag1 |
T |
C |
9: 108,095,310 (GRCm39) |
T61A |
probably benign |
Het |
| Fam184b |
C |
T |
5: 45,710,471 (GRCm39) |
G553E |
probably benign |
Het |
| Fkbp15 |
G |
C |
4: 62,225,166 (GRCm39) |
A831G |
probably benign |
Het |
| Flt1 |
T |
C |
5: 147,614,962 (GRCm39) |
H328R |
probably benign |
Het |
| Fmnl2 |
T |
A |
2: 53,008,149 (GRCm39) |
|
probably null |
Het |
| Gm5431 |
A |
G |
11: 48,785,275 (GRCm39) |
Y89H |
probably damaging |
Het |
| Gprin2 |
C |
A |
14: 33,917,397 (GRCm39) |
L124F |
probably damaging |
Het |
| Hacd2 |
T |
A |
16: 34,922,374 (GRCm39) |
Y188N |
probably damaging |
Het |
| Itgad |
A |
G |
7: 127,797,726 (GRCm39) |
T950A |
probably benign |
Het |
| Kit |
T |
A |
5: 75,815,075 (GRCm39) |
I933N |
possibly damaging |
Het |
| Klhl11 |
A |
T |
11: 100,354,589 (GRCm39) |
Y411N |
probably damaging |
Het |
| N4bp2 |
T |
C |
5: 65,966,500 (GRCm39) |
S1313P |
probably damaging |
Het |
| Neurog1 |
T |
C |
13: 56,399,354 (GRCm39) |
K131R |
probably damaging |
Het |
| Or11h6 |
T |
C |
14: 50,880,248 (GRCm39) |
L170P |
probably damaging |
Het |
| Or5d16 |
T |
A |
2: 87,773,771 (GRCm39) |
H67L |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,717,325 (GRCm39) |
D382G |
probably damaging |
Het |
| Pcdh1 |
A |
C |
18: 38,331,651 (GRCm39) |
F590V |
probably damaging |
Het |
| Pcdha5 |
G |
A |
18: 37,093,820 (GRCm39) |
V110M |
probably damaging |
Het |
| Pdlim3 |
A |
G |
8: 46,368,284 (GRCm39) |
N261D |
probably benign |
Het |
| Pou4f1 |
T |
C |
14: 104,703,347 (GRCm39) |
T362A |
unknown |
Het |
| Prlr |
A |
G |
15: 10,314,221 (GRCm39) |
T9A |
probably benign |
Het |
| Ryr3 |
T |
A |
2: 112,471,917 (GRCm39) |
D4515V |
probably damaging |
Het |
| Svop |
T |
C |
5: 114,198,124 (GRCm39) |
K149E |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,851,157 (GRCm39) |
V56A |
probably benign |
Het |
| Tm4sf20 |
T |
G |
1: 82,738,013 (GRCm39) |
I93L |
probably benign |
Het |
| Ugt2b5 |
T |
A |
5: 87,288,111 (GRCm39) |
R19* |
probably null |
Het |
| Vmn2r28 |
G |
T |
7: 5,491,668 (GRCm39) |
T193K |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,802,661 (GRCm39) |
D654G |
probably damaging |
Het |
| Zfyve16 |
T |
A |
13: 92,644,701 (GRCm39) |
Q1167L |
probably benign |
Het |
|
| Other mutations in Psmb7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
reclamation
|
UTSW |
2 |
38,523,976 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0029:Psmb7
|
UTSW |
2 |
38,523,919 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0102:Psmb7
|
UTSW |
2 |
38,533,377 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0102:Psmb7
|
UTSW |
2 |
38,533,377 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3822:Psmb7
|
UTSW |
2 |
38,503,440 (GRCm39) |
splice site |
probably benign |
|
|
R4064:Psmb7
|
UTSW |
2 |
38,530,188 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4108:Psmb7
|
UTSW |
2 |
38,532,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4787:Psmb7
|
UTSW |
2 |
38,478,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6160:Psmb7
|
UTSW |
2 |
38,533,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6266:Psmb7
|
UTSW |
2 |
38,530,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7616:Psmb7
|
UTSW |
2 |
38,523,976 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8909:Psmb7
|
UTSW |
2 |
38,503,481 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAAGGCATGTTTTCTGGTTG -3'
(R):5'- GCTCTACTGAGAATGGTGGG -3'
Sequencing Primer
(F):5'- CATGTTTTCTGGTTGGGGTAGAATG -3'
(R):5'- ATTGTCTCATGCACATGCGAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation