Incidental Mutation 'R6444:Psmd12'
| ID |
519137 |
| 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 |
044582-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R6444 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
107370354-107388862 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107377280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 113
(E113G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021063]
[ENSMUST00000106750]
[ENSMUST00000106752]
|
| AlphaFold |
Q9D8W5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021063
AA Change: E113G
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000021063
Gene: ENSMUSG00000020720
AA Change: E113G
| Domain | Start | End | E-Value | Type |
|---|
|
PINT
|
349 |
435 |
3.24e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106750
AA Change: E93G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102361
Gene: ENSMUSG00000020720
AA Change: E93G
| Domain | Start | End | E-Value | Type |
|---|
|
PINT
|
329 |
415 |
3.24e-22 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106752
AA Change: E113G
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102363
Gene: ENSMUSG00000020720
AA Change: E113G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PCI
|
300 |
398 |
1.3e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138702
|
| Meta Mutation Damage Score |
0.3433 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
ACAGAGCAGTGCCTACCAG |
ACAG |
5: 138,637,831 (GRCm39) |
|
probably benign |
Het |
| Bcas2 |
T |
A |
3: 103,079,362 (GRCm39) |
|
probably null |
Het |
| Camk1d |
A |
T |
2: 5,317,956 (GRCm39) |
I233N |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,150,785 (GRCm39) |
|
probably null |
Het |
| Cnot2 |
T |
C |
10: 116,335,260 (GRCm39) |
D246G |
probably benign |
Het |
| Cped1 |
A |
C |
6: 21,986,930 (GRCm39) |
I41L |
probably benign |
Het |
| Dcdc2c |
A |
G |
12: 28,585,475 (GRCm39) |
V174A |
probably damaging |
Het |
| Dscam |
G |
A |
16: 96,420,844 (GRCm39) |
R1681C |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,167,822 (GRCm39) |
V1755M |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,075,292 (GRCm39) |
D590N |
probably damaging |
Het |
| Fntb |
A |
G |
12: 76,963,214 (GRCm39) |
Y399C |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,338,077 (GRCm39) |
M1V |
probably null |
Het |
| Galnt15 |
T |
C |
14: 31,762,368 (GRCm39) |
F199L |
probably damaging |
Het |
| Gm8229 |
A |
T |
14: 44,602,928 (GRCm39) |
H38L |
unknown |
Het |
| Magel2 |
T |
C |
7: 62,029,747 (GRCm39) |
Y884H |
unknown |
Het |
| Miga1 |
A |
T |
3: 151,989,468 (GRCm39) |
V473E |
probably damaging |
Het |
| Mrgprx1 |
C |
T |
7: 47,671,562 (GRCm39) |
V62I |
possibly damaging |
Het |
| Mybl1 |
G |
A |
1: 9,755,917 (GRCm39) |
P211S |
possibly damaging |
Het |
| Myo19 |
A |
G |
11: 84,786,134 (GRCm39) |
H254R |
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,453,017 (GRCm39) |
T6A |
possibly damaging |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Or5b119 |
A |
T |
19: 13,456,794 (GRCm39) |
M256K |
possibly damaging |
Het |
| Or8g20 |
T |
C |
9: 39,395,614 (GRCm39) |
T309A |
probably benign |
Het |
| Ptpn3 |
T |
C |
4: 57,195,730 (GRCm39) |
D879G |
possibly damaging |
Het |
| Rufy3 |
A |
G |
5: 88,785,166 (GRCm39) |
Q414R |
probably damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,197,317 (GRCm39) |
I813T |
probably damaging |
Het |
| Smok2a |
G |
T |
17: 13,444,500 (GRCm39) |
A26S |
probably benign |
Het |
| Spsb3 |
T |
A |
17: 25,110,550 (GRCm39) |
L459Q |
probably damaging |
Het |
| Tacc2 |
T |
C |
7: 130,225,142 (GRCm39) |
V609A |
possibly damaging |
Het |
| Tmem185b |
C |
A |
1: 119,454,365 (GRCm39) |
A42E |
probably damaging |
Het |
| Trim56 |
A |
G |
5: 137,141,470 (GRCm39) |
V682A |
probably damaging |
Het |
| Trim75 |
T |
C |
8: 65,435,488 (GRCm39) |
K321E |
possibly damaging |
Het |
| Ttc17 |
A |
C |
2: 94,133,891 (GRCm39) |
M1098R |
possibly damaging |
Het |
| Ydjc |
C |
A |
16: 16,965,545 (GRCm39) |
H136Q |
probably damaging |
Het |
| Zfp568 |
A |
T |
7: 29,716,682 (GRCm39) |
H193L |
probably benign |
Het |
| Znhit1 |
A |
G |
5: 137,011,254 (GRCm39) |
V153A |
probably benign |
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 |
|
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'- GGAATGTATCTATGGAATTTCCCTCC -3'
(R):5'- CACTTAATTCTGAGCCAGGTGTG -3'
Sequencing Primer
(F):5'- CCTTAATCCCAGCATTAGGTAGGG -3'
(R):5'- ACCTTTCATTTCAGAACCTGGGAGG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation