Incidental Mutation 'R6171:Psmd12'
| ID |
490453 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psmd12
|
| Ensembl Gene |
ENSMUSG00000020720 |
| Gene Name |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 |
| Synonyms |
P55, 1500002F15Rik |
| MMRRC Submission |
044314-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R6171 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
107370354-107388862 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107382733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 213
(F213L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021063]
[ENSMUST00000106750]
[ENSMUST00000106752]
|
| AlphaFold |
Q9D8W5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021063
AA Change: F213L
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000021063
Gene: ENSMUSG00000020720
AA Change: F213L
| Domain | Start | End | E-Value | Type |
|---|
|
PINT
|
349 |
435 |
3.24e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106750
AA Change: F193L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000102361
Gene: ENSMUSG00000020720
AA Change: F193L
| Domain | Start | End | E-Value | Type |
|---|
|
PINT
|
329 |
415 |
3.24e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106752
AA Change: F213L
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102363
Gene: ENSMUSG00000020720
AA Change: F213L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PCI
|
300 |
398 |
1.3e-15 |
PFAM |
|
| Meta Mutation Damage Score |
0.2058 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core 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. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase 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 non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprs |
A |
G |
4: 126,211,110 (GRCm39) |
V269A |
probably damaging |
Het |
| Atp11a |
T |
A |
8: 12,882,663 (GRCm39) |
V517D |
probably damaging |
Het |
| Atr |
C |
T |
9: 95,763,324 (GRCm39) |
Q1073* |
probably null |
Het |
| C87436 |
A |
C |
6: 86,422,449 (GRCm39) |
T8P |
probably benign |
Het |
| Clasrp |
T |
C |
7: 19,318,747 (GRCm39) |
|
probably benign |
Het |
| Creb3l1 |
G |
T |
2: 91,821,614 (GRCm39) |
Q254K |
probably damaging |
Het |
| Dapl1 |
C |
A |
2: 59,326,946 (GRCm39) |
T64K |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,313,868 (GRCm39) |
L4168Q |
probably damaging |
Het |
| Dnttip2 |
T |
A |
3: 122,072,511 (GRCm39) |
I597N |
probably damaging |
Het |
| Dyrk1b |
A |
T |
7: 27,885,975 (GRCm39) |
|
probably null |
Het |
| Elk3 |
G |
T |
10: 93,085,906 (GRCm39) |
P132Q |
probably damaging |
Het |
| Galt |
C |
T |
4: 41,757,541 (GRCm39) |
P238S |
probably damaging |
Het |
| Gm10322 |
T |
C |
10: 59,452,084 (GRCm39) |
V67A |
possibly damaging |
Het |
| Ice1 |
T |
C |
13: 70,754,850 (GRCm39) |
Y412C |
probably benign |
Het |
| Kcna1 |
A |
T |
6: 126,619,286 (GRCm39) |
Y345N |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,342,505 (GRCm39) |
Y419C |
probably damaging |
Het |
| Klf15 |
G |
T |
6: 90,443,601 (GRCm39) |
A59S |
possibly damaging |
Het |
| Mettl17 |
T |
A |
14: 52,126,236 (GRCm39) |
Y162N |
probably damaging |
Het |
| Myh10 |
G |
A |
11: 68,682,716 (GRCm39) |
R1050Q |
probably damaging |
Het |
| Nek4 |
T |
C |
14: 30,692,304 (GRCm39) |
V376A |
probably benign |
Het |
| Nemp1 |
T |
A |
10: 127,525,319 (GRCm39) |
|
probably null |
Het |
| Nlrp9a |
T |
C |
7: 26,258,188 (GRCm39) |
I602T |
possibly damaging |
Het |
| Nphp4 |
T |
C |
4: 152,628,906 (GRCm39) |
V764A |
probably damaging |
Het |
| Or12e1 |
T |
A |
2: 87,022,709 (GRCm39) |
V226E |
possibly damaging |
Het |
| Or8c17 |
C |
T |
9: 38,179,898 (GRCm39) |
Q22* |
probably null |
Het |
| Osbp2 |
A |
T |
11: 3,667,221 (GRCm39) |
|
probably null |
Het |
| Pax2 |
A |
G |
19: 44,779,179 (GRCm39) |
Y185C |
probably damaging |
Het |
| Pdyn |
A |
T |
2: 129,530,268 (GRCm39) |
S134T |
possibly damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Ppp1r13l |
A |
G |
7: 19,111,436 (GRCm39) |
M754V |
probably benign |
Het |
| Prr23a3 |
T |
A |
9: 98,747,731 (GRCm39) |
N228K |
probably benign |
Het |
| Qser1 |
A |
T |
2: 104,619,628 (GRCm39) |
S395T |
probably damaging |
Het |
| Rab7b |
A |
G |
1: 131,626,372 (GRCm39) |
|
probably null |
Het |
| Rev3l |
T |
A |
10: 39,738,709 (GRCm39) |
L2821* |
probably null |
Het |
| Rplp0 |
A |
G |
5: 115,699,219 (GRCm39) |
N127S |
probably benign |
Het |
| Serpina9 |
G |
T |
12: 103,974,678 (GRCm39) |
Y158* |
probably null |
Het |
| Sis |
G |
A |
3: 72,868,360 (GRCm39) |
T110M |
possibly damaging |
Het |
| Slc43a2 |
A |
G |
11: 75,453,876 (GRCm39) |
Y263C |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Stard13 |
A |
T |
5: 151,016,227 (GRCm39) |
V88E |
probably damaging |
Het |
| Trim29 |
G |
A |
9: 43,230,674 (GRCm39) |
E286K |
probably damaging |
Het |
| Vmn2r24 |
T |
C |
6: 123,764,205 (GRCm39) |
S361P |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,214,308 (GRCm39) |
T18A |
probably damaging |
Het |
| Xylb |
C |
T |
9: 119,210,657 (GRCm39) |
T380M |
probably damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,994,119 (GRCm39) |
T422A |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,686,602 (GRCm39) |
E657G |
probably damaging |
Het |
|
| Other mutations in Psmd12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03002:Psmd12
|
APN |
11 |
107,376,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0384:Psmd12
|
UTSW |
11 |
107,376,547 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1457:Psmd12
|
UTSW |
11 |
107,370,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1661:Psmd12
|
UTSW |
11 |
107,382,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2443:Psmd12
|
UTSW |
11 |
107,386,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3806:Psmd12
|
UTSW |
11 |
107,386,591 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3807:Psmd12
|
UTSW |
11 |
107,386,591 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3840:Psmd12
|
UTSW |
11 |
107,376,398 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4212:Psmd12
|
UTSW |
11 |
107,376,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4718:Psmd12
|
UTSW |
11 |
107,377,259 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5182:Psmd12
|
UTSW |
11 |
107,370,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Psmd12
|
UTSW |
11 |
107,377,301 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6444:Psmd12
|
UTSW |
11 |
107,377,280 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6527:Psmd12
|
UTSW |
11 |
107,379,794 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7276:Psmd12
|
UTSW |
11 |
107,394,471 (GRCm39) |
nonsense |
probably null |
|
|
R7466:Psmd12
|
UTSW |
11 |
107,382,883 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7751:Psmd12
|
UTSW |
11 |
107,370,439 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7779:Psmd12
|
UTSW |
11 |
107,388,405 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8373:Psmd12
|
UTSW |
11 |
107,388,450 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9057:Psmd12
|
UTSW |
11 |
107,377,328 (GRCm39) |
missense |
probably null |
0.99 |
|
Z1177:Psmd12
|
UTSW |
11 |
107,376,383 (GRCm39) |
missense |
probably benign |
0.39 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTGATCTGACTGACTGTTTC -3'
(R):5'- GGGAGTGTCATAGATGGCTC -3'
Sequencing Primer
(F):5'- CTGACTGTTTCAGTATCCATTGAG -3'
(R):5'- TTTGCAGATGGACAGATAGGACCC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation