Incidental Mutation 'R2316:Psmb4'
| ID |
245476 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psmb4
|
| Ensembl Gene |
ENSMUSG00000005779 |
| Gene Name |
proteasome (prosome, macropain) subunit, beta type 4 |
| Synonyms |
Pros-27 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.873)
|
| Stock # |
R2316 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
94791635-94794269 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94792322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 200
(E200G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005923]
[ENSMUST00000042402]
[ENSMUST00000107266]
[ENSMUST00000107269]
[ENSMUST00000107270]
|
| AlphaFold |
P99026 |
| PDB Structure |
Mouse constitutive 20S proteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse constitutive 20S proteasome [X-RAY DIFFRACTION]
Mouse 20S immunoproteasome in complex with PR-957 [X-RAY DIFFRACTION]
Mouse 20S immunoproteasome [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005923
AA Change: E200G
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000005923
Gene: ENSMUSG00000005779
AA Change: E200G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
50 |
237 |
3.1e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042402
|
| SMART Domains |
Protein: ENSMUSP00000037523
Gene: ENSMUSG00000038902
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
335 |
N/A |
INTRINSIC |
|
PDB:2E72|A
|
362 |
393 |
5e-16 |
PDB |
|
low complexity region
|
401 |
436 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
482 |
504 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
518 |
541 |
5.34e0 |
SMART |
|
ZnF_C2H2
|
548 |
571 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
578 |
601 |
9.3e-1 |
SMART |
|
ZnF_C2H2
|
607 |
629 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
635 |
657 |
1.13e1 |
SMART |
|
ZnF_C2H2
|
758 |
781 |
9.46e0 |
SMART |
|
ZnF_C2H2
|
802 |
827 |
5.26e1 |
SMART |
|
low complexity region
|
896 |
915 |
N/A |
INTRINSIC |
|
low complexity region
|
946 |
955 |
N/A |
INTRINSIC |
|
low complexity region
|
984 |
996 |
N/A |
INTRINSIC |
|
CENPB
|
1008 |
1072 |
3.84e-15 |
SMART |
|
Pfam:DDE_1
|
1104 |
1289 |
3.3e-22 |
PFAM |
|
low complexity region
|
1355 |
1365 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107266
|
| SMART Domains |
Protein: ENSMUSP00000102887
Gene: ENSMUSG00000038902
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
291 |
N/A |
INTRINSIC |
|
PDB:2E72|A
|
318 |
349 |
6e-16 |
PDB |
|
low complexity region
|
357 |
392 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
438 |
460 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
474 |
497 |
5.34e0 |
SMART |
|
ZnF_C2H2
|
504 |
527 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
534 |
557 |
9.3e-1 |
SMART |
|
ZnF_C2H2
|
563 |
585 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
591 |
613 |
1.13e1 |
SMART |
|
ZnF_C2H2
|
714 |
737 |
9.46e0 |
SMART |
|
ZnF_C2H2
|
758 |
783 |
5.26e1 |
SMART |
|
low complexity region
|
852 |
871 |
N/A |
INTRINSIC |
|
low complexity region
|
902 |
911 |
N/A |
INTRINSIC |
|
low complexity region
|
940 |
952 |
N/A |
INTRINSIC |
|
CENPB
|
964 |
1028 |
3.84e-15 |
SMART |
|
Pfam:DDE_1
|
1060 |
1245 |
1.1e-22 |
PFAM |
|
low complexity region
|
1311 |
1321 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107269
|
| SMART Domains |
Protein: ENSMUSP00000102890
Gene: ENSMUSG00000038902
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
249 |
N/A |
INTRINSIC |
|
PDB:2E72|A
|
276 |
307 |
5e-16 |
PDB |
|
low complexity region
|
315 |
350 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
396 |
418 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
432 |
455 |
5.34e0 |
SMART |
|
ZnF_C2H2
|
462 |
485 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
492 |
515 |
9.3e-1 |
SMART |
|
ZnF_C2H2
|
521 |
543 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
549 |
571 |
1.13e1 |
SMART |
|
ZnF_C2H2
|
672 |
695 |
9.46e0 |
SMART |
|
ZnF_C2H2
|
716 |
741 |
5.26e1 |
SMART |
|
low complexity region
|
810 |
829 |
N/A |
INTRINSIC |
|
low complexity region
|
860 |
869 |
N/A |
INTRINSIC |
|
low complexity region
|
898 |
910 |
N/A |
INTRINSIC |
|
CENPB
|
922 |
986 |
3.84e-15 |
SMART |
|
Pfam:DDE_1
|
1018 |
1203 |
1.1e-22 |
PFAM |
|
low complexity region
|
1269 |
1279 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107270
|
| SMART Domains |
Protein: ENSMUSP00000102891
Gene: ENSMUSG00000038902
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
344 |
N/A |
INTRINSIC |
|
PDB:2E72|A
|
371 |
402 |
5e-16 |
PDB |
|
low complexity region
|
410 |
445 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
491 |
513 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
527 |
550 |
5.34e0 |
SMART |
|
ZnF_C2H2
|
557 |
580 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
587 |
610 |
9.3e-1 |
SMART |
|
ZnF_C2H2
|
616 |
638 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
644 |
666 |
1.13e1 |
SMART |
|
ZnF_C2H2
|
767 |
790 |
9.46e0 |
SMART |
|
ZnF_C2H2
|
811 |
836 |
5.26e1 |
SMART |
|
low complexity region
|
905 |
924 |
N/A |
INTRINSIC |
|
low complexity region
|
955 |
964 |
N/A |
INTRINSIC |
|
low complexity region
|
993 |
1005 |
N/A |
INTRINSIC |
|
CENPB
|
1017 |
1081 |
3.84e-15 |
SMART |
|
Pfam:DDE_1
|
1150 |
1298 |
1.5e-18 |
PFAM |
|
low complexity region
|
1364 |
1374 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133412
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134133
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200513
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136143
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| 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. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563I02Rik |
A |
G |
14: 60,333,519 (GRCm39) |
|
probably benign |
Het |
| Acaca |
T |
C |
11: 84,154,906 (GRCm39) |
M987T |
probably benign |
Het |
| Acaca |
A |
G |
11: 84,185,809 (GRCm39) |
T115A |
possibly damaging |
Het |
| Aknad1 |
A |
T |
3: 108,688,472 (GRCm39) |
D600V |
probably damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,492,701 (GRCm39) |
T1237S |
probably benign |
Het |
| Brd4 |
A |
T |
17: 32,431,884 (GRCm39) |
L660Q |
probably benign |
Het |
| Casp1 |
A |
G |
9: 5,306,213 (GRCm39) |
D366G |
possibly damaging |
Het |
| Casp8ap2 |
C |
A |
4: 32,643,781 (GRCm39) |
S951R |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,777,756 (GRCm39) |
E2589G |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,413,411 (GRCm39) |
T1135A |
possibly damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,323,628 (GRCm39) |
V633A |
probably damaging |
Het |
| Dock6 |
G |
T |
9: 21,750,973 (GRCm39) |
H400Q |
probably damaging |
Het |
| Dzip1 |
A |
G |
14: 119,138,952 (GRCm39) |
F426L |
probably benign |
Het |
| Elovl4 |
A |
G |
9: 83,662,826 (GRCm39) |
S236P |
probably damaging |
Het |
| Emp1 |
T |
C |
6: 135,357,123 (GRCm39) |
F67S |
probably damaging |
Het |
| Garnl3 |
A |
G |
2: 32,895,164 (GRCm39) |
L635P |
probably damaging |
Het |
| Htr7 |
C |
A |
19: 35,946,703 (GRCm39) |
|
probably null |
Het |
| Kcnd3 |
A |
C |
3: 105,576,442 (GRCm39) |
S629R |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,322,191 (GRCm39) |
I1913F |
possibly damaging |
Het |
| Med19 |
T |
A |
2: 84,516,587 (GRCm39) |
D208E |
probably benign |
Het |
| Mettl21c |
A |
T |
1: 44,052,792 (GRCm39) |
V75E |
probably damaging |
Het |
| Nhsl3 |
T |
C |
4: 129,117,540 (GRCm39) |
T375A |
probably damaging |
Het |
| Nsd1 |
A |
T |
13: 55,381,779 (GRCm39) |
R64S |
probably damaging |
Het |
| Or10g3b |
A |
G |
14: 52,587,395 (GRCm39) |
I36T |
probably benign |
Het |
| Or51v8 |
A |
T |
7: 103,319,674 (GRCm39) |
I188N |
probably damaging |
Het |
| Or5p50 |
T |
A |
7: 107,422,007 (GRCm39) |
Y223F |
probably benign |
Het |
| Peds1 |
T |
A |
2: 167,496,635 (GRCm39) |
Q46L |
possibly damaging |
Het |
| Plat |
T |
A |
8: 23,266,881 (GRCm39) |
M291K |
probably benign |
Het |
| Reln |
T |
C |
5: 22,359,954 (GRCm39) |
Y190C |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,415,863 (GRCm39) |
S1750P |
probably damaging |
Het |
| Slc5a4a |
T |
A |
10: 76,013,915 (GRCm39) |
|
probably null |
Het |
| Sobp |
A |
T |
10: 43,034,034 (GRCm39) |
N97K |
possibly damaging |
Het |
| Stac3 |
T |
C |
10: 127,339,229 (GRCm39) |
|
probably null |
Het |
| Stat5b |
G |
T |
11: 100,687,318 (GRCm39) |
T436K |
probably damaging |
Het |
| Tas1r3 |
A |
T |
4: 155,947,772 (GRCm39) |
M7K |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,675,045 (GRCm39) |
Q1722* |
probably null |
Het |
| Zfp677 |
A |
T |
17: 21,617,582 (GRCm39) |
Y213F |
probably benign |
Het |
|
| Other mutations in Psmb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01351:Psmb4
|
APN |
3 |
94,793,538 (GRCm39) |
splice site |
probably null |
|
|
R0322:Psmb4
|
UTSW |
3 |
94,793,402 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0581:Psmb4
|
UTSW |
3 |
94,793,479 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0646:Psmb4
|
UTSW |
3 |
94,792,275 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4505:Psmb4
|
UTSW |
3 |
94,793,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5118:Psmb4
|
UTSW |
3 |
94,792,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8694:Psmb4
|
UTSW |
3 |
94,793,435 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8695:Psmb4
|
UTSW |
3 |
94,793,435 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9622:Psmb4
|
UTSW |
3 |
94,792,285 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTTTTCAGTCACAGTGGC -3'
(R):5'- AGGCTTCCCCACTTTTAAGAG -3'
Sequencing Primer
(F):5'- CGTGCAATGATAGCGTCTCACTATG -3'
(R):5'- GGTTAAGTCACTTTCCAAGGCTGAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation