Incidental Mutation 'R7888:Psme2b'
| ID |
609165 |
| 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 |
045940-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R7888 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
48836181-48837017 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48836402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 182
(T182S)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000104958
AA Change: T182S
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000100564
Gene: ENSMUSG00000078153
AA Change: T182S
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (45/45) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
G |
T |
14: 8,246,415 (GRCm38) |
Q459K |
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,496,773 (GRCm39) |
Y792F |
probably damaging |
Het |
| Aoc3 |
C |
T |
11: 101,223,323 (GRCm39) |
H520Y |
probably damaging |
Het |
| Atp4b |
A |
G |
8: 13,439,811 (GRCm39) |
F137S |
probably damaging |
Het |
| Blvrb |
A |
G |
7: 27,165,159 (GRCm39) |
T160A |
probably damaging |
Het |
| Brd2 |
G |
A |
17: 34,335,995 (GRCm39) |
R73W |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,943,036 (GRCm39) |
T306A |
probably benign |
Het |
| Ccdc154 |
G |
A |
17: 25,383,578 (GRCm39) |
V212M |
possibly damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,119,967 (GRCm39) |
E3G |
unknown |
Het |
| Cenpb |
T |
A |
2: 131,021,762 (GRCm39) |
E12V |
probably damaging |
Het |
| Cnot8 |
T |
C |
11: 58,002,137 (GRCm39) |
S57P |
probably benign |
Het |
| Cryba4 |
T |
C |
5: 112,398,918 (GRCm39) |
E42G |
probably benign |
Het |
| Fam72a |
T |
A |
1: 131,456,578 (GRCm39) |
I47N |
probably damaging |
Het |
| Gm27027 |
A |
C |
2: 93,787,880 (GRCm39) |
|
probably null |
Het |
| Itgb2 |
T |
C |
10: 77,400,478 (GRCm39) |
V697A |
probably benign |
Het |
| Jakmip1 |
A |
G |
5: 37,262,208 (GRCm39) |
N336D |
probably damaging |
Het |
| Kansl1 |
T |
C |
11: 104,233,248 (GRCm39) |
T760A |
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,392,307 (GRCm39) |
E1039D |
probably benign |
Het |
| Meaf6 |
T |
G |
4: 125,003,213 (GRCm39) |
|
probably null |
Het |
| Mpz |
T |
C |
1: 170,987,204 (GRCm39) |
|
probably null |
Het |
| Mtss1 |
A |
T |
15: 58,844,373 (GRCm39) |
M82K |
probably damaging |
Het |
| Myo6 |
T |
C |
9: 80,203,947 (GRCm39) |
S1063P |
probably damaging |
Het |
| Niban2 |
T |
A |
2: 32,812,137 (GRCm39) |
Y406* |
probably null |
Het |
| Nsun6 |
T |
A |
2: 15,001,355 (GRCm39) |
E400D |
probably benign |
Het |
| Or10al5 |
A |
T |
17: 38,062,888 (GRCm39) |
N48Y |
probably damaging |
Het |
| Or1e26 |
T |
C |
11: 73,480,354 (GRCm39) |
D70G |
probably damaging |
Het |
| Or1l4b |
A |
T |
2: 37,036,334 (GRCm39) |
M37L |
probably benign |
Het |
| Or2t26 |
T |
C |
11: 49,039,266 (GRCm39) |
Y61H |
probably damaging |
Het |
| Or52ae7 |
T |
A |
7: 103,120,006 (GRCm39) |
Y253* |
probably null |
Het |
| Or5au1 |
A |
G |
14: 52,273,347 (GRCm39) |
S74P |
probably damaging |
Het |
| Or8j3b |
C |
A |
2: 86,205,270 (GRCm39) |
C162F |
probably benign |
Het |
| Pfdn5 |
T |
A |
15: 102,237,024 (GRCm39) |
V92E |
probably damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,842,470 (GRCm39) |
V801A |
|
Het |
| Ptcd3 |
G |
A |
6: 71,860,431 (GRCm39) |
A592V |
probably damaging |
Het |
| Rabgap1 |
T |
A |
2: 37,427,319 (GRCm39) |
Y633* |
probably null |
Het |
| Rnf39 |
A |
T |
17: 37,258,133 (GRCm39) |
T222S |
probably damaging |
Het |
| Scnn1g |
A |
G |
7: 121,342,878 (GRCm39) |
N277S |
probably damaging |
Het |
| Slc16a13 |
T |
G |
11: 70,109,806 (GRCm39) |
I232L |
possibly damaging |
Het |
| Slco2b1 |
T |
G |
7: 99,338,050 (GRCm39) |
R111S |
unknown |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Tmc3 |
T |
C |
7: 83,249,217 (GRCm39) |
W269R |
probably damaging |
Het |
| Vmn2r4 |
T |
C |
3: 64,313,943 (GRCm39) |
E346G |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 34,184,725 (GRCm39) |
N666S |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,812,920 (GRCm39) |
D1618N |
|
Het |
| Zfp773 |
C |
A |
7: 7,135,978 (GRCm39) |
C206F |
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 |
|
|
R7079:Psme2b
|
UTSW |
11 |
48,836,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7794:Psme2b
|
UTSW |
11 |
48,836,683 (GRCm39) |
missense |
probably benign |
|
|
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'- CCTTAGCTCAGTACATCGATGGC -3'
(R):5'- CAGAAGTCTGGACTCTCAAAGAG -3'
Sequencing Primer
(F):5'- AGCTCAGTACATCGATGGCTTTTC -3'
(R):5'- CATTCTGGTAATCACGTGGATCCAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation