Incidental Mutation 'R3840:Psmd12'
| ID |
277123 |
| 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 |
040780-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R3840 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
107370354-107388862 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107376398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 44
(I44T)
|
| 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: I44T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000021063
Gene: ENSMUSG00000020720
AA Change: I44T
| Domain | Start | End | E-Value | Type |
|---|
|
PINT
|
349 |
435 |
3.24e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106750
|
| SMART Domains |
Protein: ENSMUSP00000102361
Gene: ENSMUSG00000020720
| Domain | Start | End | E-Value | Type |
|---|
|
PINT
|
329 |
415 |
3.24e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106752
AA Change: I44T
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000102363
Gene: ENSMUSG00000020720
AA Change: I44T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PCI
|
300 |
398 |
1.3e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138702
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
A |
T |
18: 6,620,104 (GRCm39) |
K11N |
probably benign |
Het |
| Abcc8 |
A |
G |
7: 45,757,524 (GRCm39) |
I1375T |
possibly damaging |
Het |
| Ate1 |
A |
T |
7: 130,117,867 (GRCm39) |
D39E |
probably damaging |
Het |
| BC035947 |
G |
T |
1: 78,474,482 (GRCm39) |
N683K |
probably benign |
Het |
| Cdca2 |
A |
T |
14: 67,917,720 (GRCm39) |
Y559* |
probably null |
Het |
| Cmya5 |
A |
G |
13: 93,231,140 (GRCm39) |
V1316A |
probably damaging |
Het |
| Cntnap5b |
C |
T |
1: 100,311,202 (GRCm39) |
T936I |
possibly damaging |
Het |
| Col6a5 |
T |
C |
9: 105,805,810 (GRCm39) |
N1032S |
unknown |
Het |
| Cracd |
A |
T |
5: 77,006,858 (GRCm39) |
Q1073L |
unknown |
Het |
| Epc2 |
A |
G |
2: 49,378,750 (GRCm39) |
K68R |
probably damaging |
Het |
| Erbb3 |
A |
T |
10: 128,406,193 (GRCm39) |
F1075I |
probably benign |
Het |
| F11r |
G |
T |
1: 171,288,457 (GRCm39) |
R100L |
probably damaging |
Het |
| Fam171b |
C |
A |
2: 83,710,406 (GRCm39) |
Q693K |
possibly damaging |
Het |
| Fam83c |
C |
T |
2: 155,676,668 (GRCm39) |
R34H |
probably benign |
Het |
| Fmn2 |
GAAGA |
GAAGAAAGA |
1: 174,409,599 (GRCm39) |
|
probably null |
Het |
| Gask1b |
T |
A |
3: 79,815,897 (GRCm39) |
D302E |
probably benign |
Het |
| Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
| Hsph1 |
T |
A |
5: 149,544,180 (GRCm39) |
|
probably null |
Het |
| Jhy |
T |
A |
9: 40,856,142 (GRCm39) |
E115V |
probably benign |
Het |
| Kcnu1 |
G |
T |
8: 26,375,380 (GRCm39) |
V365L |
possibly damaging |
Het |
| Lrrc4c |
A |
G |
2: 97,460,537 (GRCm39) |
T388A |
probably damaging |
Het |
| Mastl |
T |
C |
2: 23,030,563 (GRCm39) |
D202G |
probably damaging |
Het |
| Medag |
T |
A |
5: 149,350,888 (GRCm39) |
I121N |
probably damaging |
Het |
| Mideas |
T |
C |
12: 84,218,383 (GRCm39) |
R526G |
probably damaging |
Het |
| Mocos |
C |
T |
18: 24,809,681 (GRCm39) |
A428V |
probably damaging |
Het |
| Mok |
C |
T |
12: 110,781,591 (GRCm39) |
V59M |
probably benign |
Het |
| Neb |
C |
A |
2: 52,097,672 (GRCm39) |
|
probably null |
Het |
| Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
| Or10al7 |
A |
G |
17: 38,366,239 (GRCm39) |
S73P |
probably damaging |
Het |
| Or52s1 |
G |
A |
7: 102,861,900 (GRCm39) |
G267R |
probably damaging |
Het |
| Otud1 |
G |
T |
2: 19,663,554 (GRCm39) |
E228* |
probably null |
Het |
| Pcdhga11 |
A |
T |
18: 37,890,602 (GRCm39) |
N537Y |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,839,050 (GRCm39) |
Y878C |
probably damaging |
Het |
| Podxl |
C |
T |
6: 31,500,016 (GRCm39) |
V485I |
probably damaging |
Het |
| Rap1gap |
T |
C |
4: 137,444,758 (GRCm39) |
F182S |
probably damaging |
Het |
| Slc22a13 |
T |
C |
9: 119,037,855 (GRCm39) |
D91G |
probably benign |
Het |
| Slc4a11 |
A |
G |
2: 130,529,974 (GRCm39) |
F268S |
probably damaging |
Het |
| Snap91 |
C |
T |
9: 86,721,618 (GRCm39) |
V74M |
probably damaging |
Het |
| Tmem87b |
T |
A |
2: 128,668,304 (GRCm39) |
L150* |
probably null |
Het |
| Tmprss7 |
T |
A |
16: 45,481,195 (GRCm39) |
R664* |
probably null |
Het |
| Tnfrsf11b |
T |
A |
15: 54,115,478 (GRCm39) |
H373L |
probably damaging |
Het |
| Tnfrsf23 |
A |
G |
7: 143,235,266 (GRCm39) |
S33P |
probably benign |
Het |
| Tro |
A |
G |
X: 149,429,198 (GRCm39) |
|
probably benign |
Het |
| Tulp1 |
A |
G |
17: 28,572,689 (GRCm39) |
V489A |
probably damaging |
Het |
| Wac |
C |
A |
18: 7,918,535 (GRCm39) |
P416H |
probably damaging |
Het |
| Zap70 |
T |
A |
1: 36,817,498 (GRCm39) |
I247N |
probably damaging |
Het |
| Zfp617 |
G |
A |
8: 72,685,961 (GRCm39) |
G97E |
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 |
|
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 |
|
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'- ACCTAAAGACTGCCTCGGAG -3'
(R):5'- AAGTCCCATTCTTTAGCCTCATAGC -3'
Sequencing Primer
(F):5'- TCGGAGGAGCAAGCTTTTCAC -3'
(R):5'- TTTTCACTACTGCAACCAAGATGCG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation