Incidental Mutation 'R6408:Psmb9'
| ID |
514561 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psmb9
|
| Ensembl Gene |
ENSMUSG00000096727 |
| Gene Name |
proteasome (prosome, macropain) subunit, beta type 9 (large multifunctional peptidase 2) |
| Synonyms |
Lmp-2, Lmp2 |
| MMRRC Submission |
044553-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.212)
|
| Stock # |
R6408 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34401006-34406347 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 34404707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 19
(A19E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041633]
[ENSMUST00000170086]
[ENSMUST00000171321]
[ENSMUST00000174576]
[ENSMUST00000173831]
|
| AlphaFold |
no structure available at present |
| 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: ENSMUST00000114230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166287
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166853
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168351
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171321
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174576
AA Change: A42E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000133499
Gene: ENSMUSG00000096727
AA Change: A42E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
17 |
198 |
1.2e-45 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173831
AA Change: A19E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134120
Gene: ENSMUSG00000096727
AA Change: A19E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
1 |
64 |
2.3e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179593
|
| Meta Mutation Damage Score |
0.7520 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.2%
|
| Validation Efficiency |
94% (45/48) |
| 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 1 (proteasome beta 6 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene have a grossly normal phenotype but suffer from increased susceptibility to some viruses and have an increased risk of tumor development. [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 |
|---|
| 1700028K03Rik |
T |
C |
5: 107,691,858 (GRCm39) |
S50P |
probably damaging |
Het |
| 4930407I10Rik |
T |
C |
15: 81,949,307 (GRCm39) |
V1068A |
possibly damaging |
Het |
| Acss1 |
A |
G |
2: 150,470,412 (GRCm39) |
|
probably null |
Het |
| Amer2 |
T |
C |
14: 60,617,674 (GRCm39) |
I497T |
probably damaging |
Het |
| Azi2 |
A |
T |
9: 117,890,550 (GRCm39) |
R51* |
probably null |
Het |
| Brdt |
A |
G |
5: 107,533,358 (GRCm39) |
D946G |
probably damaging |
Het |
| Bzw2 |
C |
T |
12: 36,157,524 (GRCm39) |
V314I |
possibly damaging |
Het |
| Capn13 |
A |
T |
17: 73,672,954 (GRCm39) |
Y116* |
probably null |
Het |
| Clca4b |
A |
G |
3: 144,625,036 (GRCm39) |
I485T |
probably benign |
Het |
| Crybg3 |
T |
A |
16: 59,316,053 (GRCm39) |
T1130S |
possibly damaging |
Het |
| Cubn |
C |
T |
2: 13,299,014 (GRCm39) |
V3220M |
probably damaging |
Het |
| Cyp4f16 |
T |
A |
17: 32,770,173 (GRCm39) |
L514Q |
probably damaging |
Het |
| D7Ertd443e |
G |
T |
7: 133,951,440 (GRCm39) |
Q31K |
probably benign |
Het |
| Dcaf15 |
T |
C |
8: 84,831,355 (GRCm39) |
E8G |
probably benign |
Het |
| Ddx24 |
A |
C |
12: 103,391,819 (GRCm39) |
|
probably benign |
Het |
| Diaph3 |
T |
C |
14: 87,066,430 (GRCm39) |
M988V |
possibly damaging |
Het |
| Dlx4 |
A |
G |
11: 95,036,078 (GRCm39) |
V77A |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,522,191 (GRCm39) |
|
probably null |
Het |
| Drc1 |
A |
G |
5: 30,513,632 (GRCm39) |
E396G |
probably benign |
Het |
| Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
| Gbp2b |
T |
C |
3: 142,323,899 (GRCm39) |
L568S |
probably benign |
Het |
| Gjb5 |
A |
T |
4: 127,249,940 (GRCm39) |
F68Y |
probably benign |
Het |
| Hs6st3 |
C |
A |
14: 119,376,046 (GRCm39) |
P74T |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,745,133 (GRCm39) |
L1743P |
probably damaging |
Het |
| Lnx1 |
A |
T |
5: 74,846,307 (GRCm39) |
C48S |
probably damaging |
Het |
| Lrfn2 |
A |
G |
17: 49,377,654 (GRCm39) |
H245R |
probably damaging |
Het |
| Lrrc27 |
A |
G |
7: 138,798,184 (GRCm39) |
E93G |
probably benign |
Het |
| Mettl6 |
T |
C |
14: 31,201,683 (GRCm39) |
E253G |
probably damaging |
Het |
| Nmu |
A |
T |
5: 76,491,818 (GRCm39) |
F106Y |
probably damaging |
Het |
| Pcsk7 |
T |
C |
9: 45,820,994 (GRCm39) |
I142T |
probably benign |
Het |
| Polr3a |
A |
T |
14: 24,536,939 (GRCm39) |
|
probably null |
Het |
| Pus7l |
A |
G |
15: 94,429,456 (GRCm39) |
M454T |
probably benign |
Het |
| Raet1e |
A |
G |
10: 22,056,645 (GRCm39) |
T74A |
probably benign |
Het |
| Ralb |
A |
C |
1: 119,405,839 (GRCm39) |
Y43* |
probably null |
Het |
| Ralgapa1 |
C |
A |
12: 55,730,695 (GRCm39) |
E1947* |
probably null |
Het |
| Rnf26rt |
A |
G |
6: 76,473,441 (GRCm39) |
C392R |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,768,934 (GRCm39) |
Y500H |
probably benign |
Het |
| Shroom1 |
A |
C |
11: 53,354,214 (GRCm39) |
T45P |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,142,328 (GRCm39) |
|
probably benign |
Het |
| Spmip2 |
A |
G |
3: 79,356,706 (GRCm39) |
R170G |
probably benign |
Het |
| Srgap3 |
T |
C |
6: 112,699,967 (GRCm39) |
S1004G |
probably damaging |
Het |
| Taok2 |
A |
G |
7: 126,470,164 (GRCm39) |
V888A |
probably benign |
Het |
| Tbc1d8 |
T |
A |
1: 39,441,980 (GRCm39) |
D204V |
probably damaging |
Het |
| Thoc2l |
A |
G |
5: 104,666,643 (GRCm39) |
I388M |
probably benign |
Het |
| Trav7d-4 |
C |
A |
14: 53,007,624 (GRCm39) |
A39D |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 187,999,229 (GRCm39) |
E180* |
probably null |
Het |
| Vmn1r37 |
A |
G |
6: 66,708,563 (GRCm39) |
D63G |
probably benign |
Het |
| Zfp282 |
G |
A |
6: 47,857,319 (GRCm39) |
R184Q |
probably damaging |
Het |
|
| Other mutations in Psmb9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02008:Psmb9
|
APN |
17 |
34,402,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bias
|
UTSW |
17 |
34,402,199 (GRCm39) |
nonsense |
probably null |
|
|
preconception
|
UTSW |
17 |
34,402,588 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0021:Psmb9
|
UTSW |
17 |
34,403,277 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0105:Psmb9
|
UTSW |
17 |
34,406,249 (GRCm39) |
missense |
probably benign |
|
|
R0477:Psmb9
|
UTSW |
17 |
34,401,238 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3919:Psmb9
|
UTSW |
17 |
34,402,588 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5898:Psmb9
|
UTSW |
17 |
34,401,266 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5943:Psmb9
|
UTSW |
17 |
34,403,265 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6919:Psmb9
|
UTSW |
17 |
34,402,199 (GRCm39) |
nonsense |
probably null |
|
|
R8512:Psmb9
|
UTSW |
17 |
34,402,602 (GRCm39) |
missense |
probably benign |
|
|
R9105:Psmb9
|
UTSW |
17 |
34,401,905 (GRCm39) |
intron |
probably benign |
|
|
R9304:Psmb9
|
UTSW |
17 |
34,406,222 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9454:Psmb9
|
UTSW |
17 |
34,402,078 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9633:Psmb9
|
UTSW |
17 |
34,402,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGAATGCCATGGATTCAGAGG -3'
(R):5'- GCTCTCCTCATGCAGATTGTG -3'
Sequencing Primer
(F):5'- CATGGATTCAGAGGCCCAGAC -3'
(R):5'- AGATTGTGTCTGCCTCCAGGAAC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation