Incidental Mutation 'R8373:Psmd12'
| ID |
646551 |
| 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 |
067741-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R8373 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
107370354-107388862 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 107388450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 421
(P421L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021063]
[ENSMUST00000106750]
[ENSMUST00000106752]
|
| AlphaFold |
Q9D8W5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021063
AA Change: P421L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021063
Gene: ENSMUSG00000020720
AA Change: P421L
| Domain | Start | End | E-Value | Type |
|---|
|
PINT
|
349 |
435 |
3.24e-22 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106750
AA Change: P401L
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102361
Gene: ENSMUSG00000020720
AA Change: P401L
| Domain | Start | End | E-Value | Type |
|---|
|
PINT
|
329 |
415 |
3.24e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106752
|
| SMART Domains |
Protein: ENSMUSP00000102363
Gene: ENSMUSG00000020720
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PCI
|
300 |
398 |
1.3e-15 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
T |
C |
10: 14,343,078 (GRCm39) |
T290A |
probably benign |
Het |
| Aff4 |
C |
T |
11: 53,291,094 (GRCm39) |
Q685* |
probably null |
Het |
| Ankmy1 |
A |
G |
1: 92,823,816 (GRCm39) |
M150T |
probably damaging |
Het |
| Armc1 |
T |
C |
3: 19,203,731 (GRCm39) |
Y65C |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,409,152 (GRCm39) |
V222A |
probably benign |
Het |
| Bcar1 |
A |
T |
8: 112,442,370 (GRCm39) |
Y228* |
probably null |
Het |
| Cct2 |
T |
C |
10: 116,896,729 (GRCm39) |
D158G |
possibly damaging |
Het |
| Cul1 |
T |
A |
6: 47,491,997 (GRCm39) |
C426S |
possibly damaging |
Het |
| Deup1 |
G |
T |
9: 15,503,671 (GRCm39) |
L297M |
possibly damaging |
Het |
| Dpp10 |
A |
G |
1: 123,781,958 (GRCm39) |
S74P |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,483,716 (GRCm39) |
Y98H |
possibly damaging |
Het |
| Epn3 |
T |
G |
11: 94,383,762 (GRCm39) |
D296A |
probably damaging |
Het |
| Eri2 |
A |
C |
7: 119,371,820 (GRCm39) |
I252S |
probably benign |
Het |
| Gp9 |
C |
T |
6: 87,755,994 (GRCm39) |
T3I |
probably benign |
Het |
| H2-Q5 |
T |
A |
17: 35,613,432 (GRCm39) |
V55E |
|
Het |
| Kif3c |
G |
T |
12: 3,416,089 (GRCm39) |
V37L |
probably benign |
Het |
| Lct |
A |
T |
1: 128,231,577 (GRCm39) |
N757K |
probably damaging |
Het |
| Lhx8 |
A |
C |
3: 154,030,295 (GRCm39) |
N112K |
probably damaging |
Het |
| Loxl3 |
T |
A |
6: 83,025,872 (GRCm39) |
S373R |
possibly damaging |
Het |
| Mettl4 |
G |
A |
17: 95,041,077 (GRCm39) |
T359I |
probably damaging |
Het |
| Mpp7 |
A |
G |
18: 7,444,096 (GRCm39) |
S109P |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,954,032 (GRCm39) |
V840A |
probably benign |
Het |
| Ncoa4 |
T |
A |
14: 31,898,893 (GRCm39) |
L571Q |
probably damaging |
Het |
| Or13a18 |
A |
T |
7: 140,190,208 (GRCm39) |
Y35F |
possibly damaging |
Het |
| Or2f1 |
T |
C |
6: 42,721,280 (GRCm39) |
F103S |
probably damaging |
Het |
| Phgdh |
G |
A |
3: 98,228,561 (GRCm39) |
T204I |
probably damaging |
Het |
| Pla2g4d |
C |
T |
2: 120,107,980 (GRCm39) |
V310M |
probably null |
Het |
| Prss3b |
T |
G |
6: 41,008,622 (GRCm39) |
T231P |
possibly damaging |
Het |
| Ptch1 |
A |
G |
13: 63,688,982 (GRCm39) |
Y432H |
probably damaging |
Het |
| Rapgef1 |
G |
A |
2: 29,600,243 (GRCm39) |
G655S |
probably damaging |
Het |
| Rilpl2 |
C |
A |
5: 124,616,097 (GRCm39) |
A18S |
probably damaging |
Het |
| Srsf7 |
T |
C |
17: 80,512,815 (GRCm39) |
R88G |
probably benign |
Het |
| St6galnac1 |
T |
C |
11: 116,660,059 (GRCm39) |
K85E |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,773,488 (GRCm39) |
S49R |
probably damaging |
Het |
| Vinac1 |
T |
A |
2: 128,880,091 (GRCm39) |
I612F |
|
Het |
| Wdr48 |
A |
G |
9: 119,734,560 (GRCm39) |
T160A |
probably damaging |
Het |
| Zfp704 |
G |
A |
3: 9,674,502 (GRCm39) |
T93M |
unknown |
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 |
|
R6171:Psmd12
|
UTSW |
11 |
107,382,733 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
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'- CAGTGCTCTCAGCTTGTGTG -3'
(R):5'- GCTGAGACACAAACCTTTCTGTC -3'
Sequencing Primer
(F):5'- CTCTCAGCTTGTGTGTTCATG -3'
(R):5'- GAGGGGGCTTAAACACATTTACTATC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation