Incidental Mutation 'R7079:Psme2b'
| ID |
549428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psme2b
|
| Ensembl Gene |
ENSMUSG00000078153 |
| Gene Name |
protease (prosome, macropain) activator subunit 2B |
| Synonyms |
Psme2-like, PA28b2, Psme2b-ps, Psme2b |
| MMRRC Submission |
045173-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R7079 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
48836181-48837017 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48836443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 168
(F168S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059930]
[ENSMUST00000097494]
[ENSMUST00000104958]
|
| AlphaFold |
P97372 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059930
|
| SMART Domains |
Protein: ENSMUSP00000054351
Gene: ENSMUSG00000048852
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IIGP
|
27 |
389 |
8.4e-123 |
PFAM |
|
Pfam:MMR_HSR1
|
63 |
190 |
2.2e-9 |
PFAM |
|
low complexity region
|
421 |
432 |
N/A |
INTRINSIC |
|
Pfam:IIGP
|
438 |
811 |
3.4e-152 |
PFAM |
|
Pfam:MMR_HSR1
|
474 |
632 |
1.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097494
|
| SMART Domains |
Protein: ENSMUSP00000095102
Gene: ENSMUSG00000069893
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IIGP
|
36 |
398 |
2e-125 |
PFAM |
|
Pfam:DLIC
|
52 |
107 |
3.2e-5 |
PFAM |
|
Pfam:MMR_HSR1
|
72 |
235 |
2e-11 |
PFAM |
|
low complexity region
|
430 |
444 |
N/A |
INTRINSIC |
|
Pfam:IIGP
|
447 |
820 |
1.9e-153 |
PFAM |
|
Pfam:MMR_HSR1
|
483 |
611 |
3.6e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000104958
AA Change: F168S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100564
Gene: ENSMUSG00000078153
AA Change: F168S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PA28_alpha
|
11 |
71 |
1.2e-26 |
PFAM |
|
Pfam:PA28_beta
|
93 |
237 |
5.3e-58 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
FUNCTION: This gene may encode proteasome activator complex subunit 2 protein (PMID: 10222192). This gene, located on chromosome 11, lacks a structured promoter and is intronless. It has also been described as a pseudogene (PMID: 9914329), however, it has an intact coding region and transcripts can be placed at this location unambiguously. An interferon-inducible gene located on chromosome 14, near the gene that encodes proteasome activator complex subunit 1 protein, is considered the functional gene. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,402,323 (GRCm39) |
L405S |
possibly damaging |
Het |
| 2310009B15Rik |
T |
A |
1: 138,779,865 (GRCm39) |
Q129L |
possibly damaging |
Het |
| 4921509C19Rik |
T |
G |
2: 151,315,198 (GRCm39) |
D160A |
probably damaging |
Het |
| Aspn |
A |
G |
13: 49,720,031 (GRCm39) |
Y349C |
probably damaging |
Het |
| Atp2b1 |
A |
G |
10: 98,854,595 (GRCm39) |
T1063A |
probably benign |
Het |
| BC035947 |
T |
C |
1: 78,474,552 (GRCm39) |
E660G |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,323,408 (GRCm39) |
L970P |
probably damaging |
Het |
| Caskin1 |
T |
C |
17: 24,717,858 (GRCm39) |
I215T |
probably benign |
Het |
| Cort |
C |
G |
4: 149,211,848 (GRCm39) |
G85R |
probably benign |
Het |
| Cyp1a2 |
T |
C |
9: 57,589,161 (GRCm39) |
I218V |
probably benign |
Het |
| Egfem1 |
T |
A |
3: 29,207,731 (GRCm39) |
H140Q |
probably benign |
Het |
| Elapor2 |
A |
G |
5: 9,449,253 (GRCm39) |
Y127C |
probably damaging |
Het |
| Fbln5 |
G |
A |
12: 101,723,667 (GRCm39) |
P345S |
probably damaging |
Het |
| Fbxw21 |
A |
G |
9: 108,974,578 (GRCm39) |
I314T |
probably benign |
Het |
| Gfpt2 |
G |
A |
11: 49,728,578 (GRCm39) |
V679I |
possibly damaging |
Het |
| Gm10837 |
C |
G |
14: 122,728,142 (GRCm39) |
A6G |
unknown |
Het |
| Grm1 |
T |
C |
10: 10,955,702 (GRCm39) |
D194G |
probably damaging |
Het |
| Hectd1 |
G |
A |
12: 51,834,638 (GRCm39) |
T875M |
possibly damaging |
Het |
| Hey2 |
T |
A |
10: 30,710,382 (GRCm39) |
I124F |
probably benign |
Het |
| Hhat |
T |
C |
1: 192,235,354 (GRCm39) |
H434R |
possibly damaging |
Het |
| Itpripl2 |
A |
G |
7: 118,090,092 (GRCm39) |
F156L |
possibly damaging |
Het |
| Kctd11 |
A |
G |
11: 69,770,847 (GRCm39) |
Y64H |
probably damaging |
Het |
| Lmln |
T |
C |
16: 32,887,661 (GRCm39) |
L97P |
probably benign |
Het |
| Lrrc30 |
T |
C |
17: 67,939,016 (GRCm39) |
D188G |
possibly damaging |
Het |
| Mmd |
T |
A |
11: 90,158,325 (GRCm39) |
|
probably null |
Het |
| Nav3 |
G |
A |
10: 109,603,153 (GRCm39) |
S1132L |
probably benign |
Het |
| Or1l4 |
C |
A |
2: 37,092,185 (GRCm39) |
H311N |
probably benign |
Het |
| Or4c101 |
C |
A |
2: 88,389,853 (GRCm39) |
N2K |
probably damaging |
Het |
| Or52ab7 |
C |
T |
7: 102,978,391 (GRCm39) |
R233C |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,152,957 (GRCm39) |
T421A |
probably benign |
Het |
| Pfkm |
G |
A |
15: 97,992,963 (GRCm39) |
R7H |
probably benign |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,649,752 (GRCm39) |
V385A |
probably benign |
Het |
| Reep5 |
G |
A |
18: 34,480,176 (GRCm39) |
T189I |
probably damaging |
Het |
| Sacm1l |
T |
A |
9: 123,399,062 (GRCm39) |
Y272N |
probably damaging |
Het |
| Slc26a6 |
T |
A |
9: 108,735,147 (GRCm39) |
H348Q |
probably damaging |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
16: 91,453,729 (GRCm39) |
|
probably benign |
Het |
| Spata31f1a |
T |
C |
4: 42,851,718 (GRCm39) |
E146G |
probably benign |
Het |
| Stkld1 |
A |
G |
2: 26,839,359 (GRCm39) |
I342V |
probably benign |
Het |
| Trim23 |
A |
T |
13: 104,323,801 (GRCm39) |
|
probably null |
Het |
| Trmt13 |
T |
C |
3: 116,376,480 (GRCm39) |
T304A |
probably benign |
Het |
| Tyw3 |
G |
C |
3: 154,299,426 (GRCm39) |
S94R |
probably benign |
Het |
| Ubqln3 |
A |
T |
7: 103,790,578 (GRCm39) |
I504K |
probably benign |
Het |
| Uhrf2 |
T |
G |
19: 30,060,190 (GRCm39) |
N519K |
probably null |
Het |
| Wdr93 |
T |
C |
7: 79,399,040 (GRCm39) |
M58T |
probably damaging |
Het |
| Wwc2 |
G |
A |
8: 48,300,580 (GRCm39) |
T961M |
unknown |
Het |
| Zfp35 |
C |
T |
18: 24,136,357 (GRCm39) |
H234Y |
possibly damaging |
Het |
| Zscan21 |
C |
T |
5: 138,124,728 (GRCm39) |
P215S |
probably benign |
Het |
|
| Other mutations in Psme2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02490:Psme2b
|
APN |
11 |
48,836,946 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03309:Psme2b
|
APN |
11 |
48,836,626 (GRCm39) |
splice site |
probably null |
|
|
R0087:Psme2b
|
UTSW |
11 |
48,836,544 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0523:Psme2b
|
UTSW |
11 |
48,836,609 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1467:Psme2b
|
UTSW |
11 |
48,836,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Psme2b
|
UTSW |
11 |
48,836,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1502:Psme2b
|
UTSW |
11 |
48,836,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1540:Psme2b
|
UTSW |
11 |
48,836,209 (GRCm39) |
splice site |
probably null |
|
|
R1793:Psme2b
|
UTSW |
11 |
48,836,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1967:Psme2b
|
UTSW |
11 |
48,836,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2426:Psme2b
|
UTSW |
11 |
48,836,890 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4667:Psme2b
|
UTSW |
11 |
48,836,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5011:Psme2b
|
UTSW |
11 |
48,836,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5013:Psme2b
|
UTSW |
11 |
48,836,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6131:Psme2b
|
UTSW |
11 |
48,836,752 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6860:Psme2b
|
UTSW |
11 |
48,836,307 (GRCm39) |
nonsense |
probably null |
|
|
R7794:Psme2b
|
UTSW |
11 |
48,836,683 (GRCm39) |
missense |
probably benign |
|
|
R7888:Psme2b
|
UTSW |
11 |
48,836,402 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9449:Psme2b
|
UTSW |
11 |
48,836,566 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9748:Psme2b
|
UTSW |
11 |
48,836,779 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
RF020:Psme2b
|
UTSW |
11 |
48,836,397 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0025:Psme2b
|
UTSW |
11 |
48,836,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTCGGGTTGACGATTTTC -3'
(R):5'- AAGCTTCTGGCCTTGCTTG -3'
Sequencing Primer
(F):5'- ACGATTTTCTCTAGGTTGCTGC -3'
(R):5'- GCCTTGCTTGCTTTGGTTAAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation