Incidental Mutation 'R2874:Psmb8'
| ID |
260479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psmb8
|
| Ensembl Gene |
ENSMUSG00000024338 |
| Gene Name |
proteasome (prosome, macropain) subunit, beta type 8 (large multifunctional peptidase 7) |
| Synonyms |
Lmp-7, Lmp7 |
| MMRRC Submission |
040462-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2874 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34417169-34420428 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34419144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 146
(I146T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134664
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025196]
[ENSMUST00000025197]
[ENSMUST00000041633]
[ENSMUST00000131105]
[ENSMUST00000138491]
[ENSMUST00000173441]
[ENSMUST00000170086]
|
| AlphaFold |
P28063 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025196
AA Change: I146T
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025196
Gene: ENSMUSG00000024338
AA Change: I146T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
69 |
251 |
1.9e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025197
|
| SMART Domains |
Protein: ENSMUSP00000025197
Gene: ENSMUSG00000024339
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
transmembrane domain
|
55 |
77 |
N/A |
INTRINSIC |
|
transmembrane domain
|
97 |
119 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
151 |
419 |
1.8e-62 |
PFAM |
|
AAA
|
494 |
678 |
2.58e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041633
|
| SMART Domains |
Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
|
transmembrane domain
|
66 |
88 |
N/A |
INTRINSIC |
|
transmembrane domain
|
116 |
138 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
163 |
420 |
9.1e-55 |
PFAM |
|
AAA
|
478 |
666 |
2.21e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127543
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131105
|
| SMART Domains |
Protein: ENSMUSP00000118700
Gene: ENSMUSG00000024339
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166582
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172960
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173441
AA Change: I146T
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134664
Gene: ENSMUSG00000024338
AA Change: I146T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
69 |
248 |
6.3e-53 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173770
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166853
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168351
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172796
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170086
|
| SMART Domains |
Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
|
transmembrane domain
|
66 |
88 |
N/A |
INTRINSIC |
|
transmembrane domain
|
116 |
138 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
163 |
434 |
5.8e-70 |
PFAM |
|
AAA
|
506 |
694 |
2.21e-18 |
SMART |
|
| Meta Mutation Damage Score |
0.7752 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (57/57) |
| 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 located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same mature subunit. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. However they have a reduced ability to process MHC class I restricted antigens. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930029G22Rik |
T |
A |
17: 69,725,106 (GRCm39) |
|
noncoding transcript |
Het |
| Ankrd42 |
T |
C |
7: 92,254,566 (GRCm39) |
K348E |
possibly damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,025,093 (GRCm39) |
|
probably null |
Het |
| Arhgef10 |
A |
G |
8: 15,025,666 (GRCm39) |
I459V |
probably benign |
Het |
| Cd6 |
A |
G |
19: 10,771,990 (GRCm39) |
I307T |
possibly damaging |
Het |
| Cebpz |
A |
T |
17: 79,239,532 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
A |
G |
7: 7,293,520 (GRCm39) |
I412T |
probably benign |
Het |
| Clstn3 |
T |
A |
6: 124,415,294 (GRCm39) |
D690V |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,606,831 (GRCm39) |
F531I |
probably damaging |
Het |
| Dennd2b |
A |
T |
7: 109,156,637 (GRCm39) |
Y38N |
probably benign |
Het |
| Dhx57 |
A |
T |
17: 80,558,805 (GRCm39) |
D1051E |
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,570,031 (GRCm39) |
V460A |
possibly damaging |
Het |
| Frmpd4 |
A |
T |
X: 166,260,243 (GRCm39) |
D1166E |
probably benign |
Het |
| Fscb |
T |
C |
12: 64,520,210 (GRCm39) |
K419E |
probably benign |
Het |
| Ftdc1 |
A |
T |
16: 58,434,342 (GRCm39) |
I125K |
probably benign |
Het |
| Ggct |
G |
T |
6: 54,969,759 (GRCm39) |
A21D |
probably damaging |
Het |
| Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
| Grid2ip |
C |
A |
5: 143,343,684 (GRCm39) |
Q127K |
probably benign |
Het |
| Ighv2-2 |
G |
A |
12: 113,552,118 (GRCm39) |
T40I |
possibly damaging |
Het |
| Itpr2 |
T |
C |
6: 146,327,996 (GRCm39) |
K79R |
possibly damaging |
Het |
| Klf8 |
A |
T |
X: 152,165,678 (GRCm39) |
E82D |
probably damaging |
Het |
| Kpna7 |
T |
C |
5: 144,930,745 (GRCm39) |
T367A |
probably benign |
Het |
| Lactbl1 |
G |
A |
4: 136,354,097 (GRCm39) |
C37Y |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,741,705 (GRCm39) |
L3188P |
probably damaging |
Het |
| Matcap1 |
A |
G |
8: 106,008,664 (GRCm39) |
M451T |
possibly damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Noc4l |
A |
G |
5: 110,796,969 (GRCm39) |
V465A |
probably benign |
Het |
| Notch1 |
A |
G |
2: 26,350,247 (GRCm39) |
C2298R |
possibly damaging |
Het |
| Or10z1 |
T |
C |
1: 174,078,092 (GRCm39) |
S134G |
probably benign |
Het |
| Parp1 |
A |
G |
1: 180,401,230 (GRCm39) |
D45G |
probably damaging |
Het |
| Plxna3 |
T |
A |
X: 73,383,002 (GRCm39) |
|
probably benign |
Het |
| Prdx4 |
A |
G |
X: 154,123,460 (GRCm39) |
V15A |
probably benign |
Het |
| Prps1 |
C |
T |
X: 139,372,743 (GRCm39) |
|
probably benign |
Het |
| Qng1 |
T |
A |
13: 58,530,384 (GRCm39) |
I209F |
probably damaging |
Het |
| Ralgds |
A |
G |
2: 28,438,781 (GRCm39) |
|
probably null |
Het |
| Rasl12 |
A |
G |
9: 65,315,605 (GRCm39) |
N83S |
probably benign |
Het |
| Rnf6 |
T |
C |
5: 146,147,215 (GRCm39) |
Y601C |
probably benign |
Het |
| Rreb1 |
T |
C |
13: 38,100,484 (GRCm39) |
I205T |
probably benign |
Het |
| Sgk2 |
A |
G |
2: 162,836,449 (GRCm39) |
|
probably benign |
Het |
| Spsb4 |
G |
T |
9: 96,878,071 (GRCm39) |
T84K |
probably damaging |
Het |
| St7 |
C |
T |
6: 17,819,276 (GRCm39) |
P60L |
probably damaging |
Het |
| Stx3 |
A |
T |
19: 11,766,938 (GRCm39) |
V91D |
probably damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,444,398 (GRCm39) |
F187S |
probably damaging |
Het |
| Tep1 |
A |
G |
14: 51,088,107 (GRCm39) |
I85T |
possibly damaging |
Het |
| Trpa1 |
A |
G |
1: 14,957,844 (GRCm39) |
C705R |
probably damaging |
Het |
| Vmn2r68 |
A |
C |
7: 84,882,834 (GRCm39) |
M306R |
probably benign |
Het |
| Vwa7 |
G |
A |
17: 35,240,218 (GRCm39) |
M395I |
probably damaging |
Het |
| Zfp53 |
A |
T |
17: 21,728,340 (GRCm39) |
E124D |
probably benign |
Het |
|
| Other mutations in Psmb8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00817:Psmb8
|
APN |
17 |
34,419,703 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01153:Psmb8
|
APN |
17 |
34,420,215 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01307:Psmb8
|
APN |
17 |
34,418,210 (GRCm39) |
missense |
probably benign |
|
|
IGL01394:Psmb8
|
APN |
17 |
34,419,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01821:Psmb8
|
APN |
17 |
34,417,517 (GRCm39) |
missense |
probably benign |
|
|
IGL01936:Psmb8
|
APN |
17 |
34,419,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02118:Psmb8
|
APN |
17 |
34,420,198 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02708:Psmb8
|
APN |
17 |
34,420,217 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02739:Psmb8
|
APN |
17 |
34,419,728 (GRCm39) |
nonsense |
probably null |
|
|
R1952:Psmb8
|
UTSW |
17 |
34,419,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Psmb8
|
UTSW |
17 |
34,419,144 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2869:Psmb8
|
UTSW |
17 |
34,419,144 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2870:Psmb8
|
UTSW |
17 |
34,419,144 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2870:Psmb8
|
UTSW |
17 |
34,419,144 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2871:Psmb8
|
UTSW |
17 |
34,419,144 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2871:Psmb8
|
UTSW |
17 |
34,419,144 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2873:Psmb8
|
UTSW |
17 |
34,419,144 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5632:Psmb8
|
UTSW |
17 |
34,420,214 (GRCm39) |
missense |
probably benign |
|
|
R6395:Psmb8
|
UTSW |
17 |
34,418,265 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6993:Psmb8
|
UTSW |
17 |
34,418,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7645:Psmb8
|
UTSW |
17 |
34,419,186 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7672:Psmb8
|
UTSW |
17 |
34,417,404 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8804:Psmb8
|
UTSW |
17 |
34,419,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9492:Psmb8
|
UTSW |
17 |
34,417,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Psmb8
|
UTSW |
17 |
34,419,830 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGGATCAGAGATTTTAAATTCCC -3'
(R):5'- ATCAAAACCTGGATCAAGCATGG -3'
Sequencing Primer
(F):5'- ACTCTTATGTCCCGTCCCACAAG -3'
(R):5'- AGATCATGCTGCCCATG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation