Incidental Mutation 'R5939:Psmb1'
| ID |
462451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psmb1
|
| Ensembl Gene |
ENSMUSG00000014769 |
| Gene Name |
proteasome (prosome, macropain) subunit, beta type 1 |
| Synonyms |
Lmpc5 |
| MMRRC Submission |
043243-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
R5939 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
15695983-15718538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15718440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 29
(F29L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014911]
[ENSMUST00000014913]
[ENSMUST00000117593]
[ENSMUST00000118001]
[ENSMUST00000119879]
[ENSMUST00000143924]
[ENSMUST00000147081]
[ENSMUST00000231341]
[ENSMUST00000159197]
[ENSMUST00000162505]
[ENSMUST00000155051]
[ENSMUST00000232500]
|
| AlphaFold |
O09061 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014911
|
| SMART Domains |
Protein: ENSMUSP00000014911
Gene: ENSMUSG00000014767
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
133 |
N/A |
INTRINSIC |
|
Pfam:TBP
|
138 |
222 |
4.3e-34 |
PFAM |
|
Pfam:TBP
|
227 |
313 |
3.4e-35 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014913
AA Change: F29L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000014913
Gene: ENSMUSG00000014769
AA Change: F29L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
33 |
225 |
8.9e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117593
|
| SMART Domains |
Protein: ENSMUSP00000112794
Gene: ENSMUSG00000014767
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
133 |
N/A |
INTRINSIC |
|
Pfam:TBP
|
138 |
222 |
4.3e-34 |
PFAM |
|
Pfam:TBP
|
227 |
313 |
3.4e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118001
|
| SMART Domains |
Protein: ENSMUSP00000113999
Gene: ENSMUSG00000014767
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
133 |
N/A |
INTRINSIC |
|
Pfam:TBP
|
138 |
204 |
1.4e-29 |
PFAM |
|
Pfam:TBP
|
203 |
257 |
4.4e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119879
|
| SMART Domains |
Protein: ENSMUSP00000114007
Gene: ENSMUSG00000014767
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
133 |
N/A |
INTRINSIC |
|
Pfam:TBP
|
138 |
222 |
8.9e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143924
|
| SMART Domains |
Protein: ENSMUSP00000122696
Gene: ENSMUSG00000014767
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
133 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147081
|
| SMART Domains |
Protein: ENSMUSP00000120484
Gene: ENSMUSG00000014767
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
133 |
N/A |
INTRINSIC |
|
Pfam:TBP
|
138 |
178 |
9.6e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231341
AA Change: F29L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232661
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159197
|
| SMART Domains |
Protein: ENSMUSP00000125691
Gene: ENSMUSG00000014767
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
128 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162505
|
| SMART Domains |
Protein: ENSMUSP00000124317
Gene: ENSMUSG00000014767
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
133 |
N/A |
INTRINSIC |
|
Pfam:TBP
|
139 |
221 |
1.1e-34 |
PFAM |
|
Pfam:TBP
|
229 |
312 |
8.5e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155051
|
| SMART Domains |
Protein: ENSMUSP00000117551
Gene: ENSMUSG00000014767
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
70 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232500
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.9%
|
| 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. 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. This gene is tightly linked to the TBP (TATA-binding protein) gene in human and in mouse, and is transcribed in the opposite orientation in both species. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,404,138 (GRCm39) |
F225I |
probably damaging |
Het |
| Ager |
G |
T |
17: 34,817,175 (GRCm39) |
C38F |
probably damaging |
Het |
| Arel1 |
C |
A |
12: 84,973,066 (GRCm39) |
R577L |
probably damaging |
Het |
| Armh1 |
T |
C |
4: 117,087,119 (GRCm39) |
Y182C |
probably damaging |
Het |
| Cabp2 |
G |
T |
19: 4,136,470 (GRCm39) |
C172F |
possibly damaging |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| D630045J12Rik |
A |
C |
6: 38,171,904 (GRCm39) |
S755A |
possibly damaging |
Het |
| Duox1 |
A |
T |
2: 122,176,832 (GRCm39) |
H1451L |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,037,801 (GRCm39) |
V3359A |
probably damaging |
Het |
| Erlin2 |
T |
C |
8: 27,526,554 (GRCm39) |
F305L |
probably benign |
Het |
| Gm10428 |
A |
C |
11: 62,644,288 (GRCm39) |
|
probably benign |
Het |
| Gnal |
G |
A |
18: 67,324,456 (GRCm39) |
V204M |
probably damaging |
Het |
| Intu |
T |
C |
3: 40,647,014 (GRCm39) |
V629A |
probably damaging |
Het |
| Lrguk |
G |
T |
6: 34,055,688 (GRCm39) |
C435F |
probably damaging |
Het |
| Man1c1 |
C |
T |
4: 134,293,147 (GRCm39) |
V543M |
probably damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,344,195 (GRCm39) |
H1779R |
probably benign |
Het |
| Neb |
T |
C |
2: 52,147,606 (GRCm39) |
T2776A |
probably benign |
Het |
| Nek10 |
A |
T |
14: 14,931,290 (GRCm38) |
Y754F |
possibly damaging |
Het |
| Nr3c1 |
A |
G |
18: 39,553,706 (GRCm39) |
I664T |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,089,010 (GRCm39) |
E849G |
probably damaging |
Het |
| Nrros |
A |
G |
16: 31,962,272 (GRCm39) |
F546L |
probably benign |
Het |
| Or12e8 |
A |
C |
2: 87,188,048 (GRCm39) |
I87L |
possibly damaging |
Het |
| Or5d39 |
T |
C |
2: 87,979,853 (GRCm39) |
Y170C |
probably damaging |
Het |
| Pcdhb16 |
A |
G |
18: 37,611,117 (GRCm39) |
T26A |
probably benign |
Het |
| Penk |
A |
G |
4: 4,138,010 (GRCm39) |
F45S |
probably benign |
Het |
| Pgap4 |
T |
A |
4: 49,586,412 (GRCm39) |
Q252L |
probably damaging |
Het |
| Ppp2r3d |
A |
T |
9: 101,089,824 (GRCm39) |
N166K |
probably benign |
Het |
| Rab23 |
T |
C |
1: 33,762,990 (GRCm39) |
V20A |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,815,552 (GRCm39) |
A113T |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,805,218 (GRCm39) |
R882K |
probably damaging |
Het |
| Slc6a6 |
A |
G |
6: 91,731,929 (GRCm39) |
N586S |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,368,031 (GRCm39) |
I207V |
probably benign |
Het |
| Spef2 |
G |
A |
15: 9,614,301 (GRCm39) |
T1215I |
probably benign |
Het |
| Thoc2l |
T |
C |
5: 104,667,073 (GRCm39) |
Y532H |
possibly damaging |
Het |
| Tmc7 |
C |
T |
7: 118,144,950 (GRCm39) |
A537T |
probably benign |
Het |
| Tmem70 |
T |
C |
1: 16,747,615 (GRCm39) |
V243A |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,422,786 (GRCm38) |
Y1408H |
probably damaging |
Het |
| Tpcn1 |
A |
T |
5: 120,677,892 (GRCm39) |
F642I |
probably damaging |
Het |
| Xirp1 |
T |
G |
9: 119,847,575 (GRCm39) |
D436A |
probably benign |
Het |
|
| Other mutations in Psmb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02227:Psmb1
|
APN |
17 |
15,710,546 (GRCm39) |
start codon destroyed |
probably null |
0.21 |
|
R0416:Psmb1
|
UTSW |
17 |
15,714,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3908:Psmb1
|
UTSW |
17 |
15,710,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4946:Psmb1
|
UTSW |
17 |
15,718,478 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4976:Psmb1
|
UTSW |
17 |
15,718,524 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R4979:Psmb1
|
UTSW |
17 |
15,696,451 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5119:Psmb1
|
UTSW |
17 |
15,718,524 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R5506:Psmb1
|
UTSW |
17 |
15,710,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6848:Psmb1
|
UTSW |
17 |
15,697,509 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7178:Psmb1
|
UTSW |
17 |
15,697,521 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7701:Psmb1
|
UTSW |
17 |
15,697,509 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7891:Psmb1
|
UTSW |
17 |
15,714,748 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9369:Psmb1
|
UTSW |
17 |
15,710,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAACGTGTTCAAGCCCTAC -3'
(R):5'- TCCAAGAGCAACGACGAGTG -3'
Sequencing Primer
(F):5'- CGTGTTCAAGCCCTACCAAAC -3'
(R):5'- CGACGAGTGCAGGCTAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation