Incidental Mutation 'R3811:Psmd1'
| ID |
275179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psmd1
|
| Ensembl Gene |
ENSMUSG00000026229 |
| Gene Name |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 |
| Synonyms |
P112, S1 |
| MMRRC Submission |
040767-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R3811 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
85992341-86067017 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86060437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 828
(V828D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027432]
[ENSMUST00000139715]
|
| AlphaFold |
Q3TXS7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027432
AA Change: V828D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027432
Gene: ENSMUSG00000026229
AA Change: V828D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PC_rep
|
441 |
474 |
5.1e-9 |
PFAM |
|
Pfam:PC_rep
|
476 |
510 |
8.4e-8 |
PFAM |
|
Pfam:PC_rep
|
511 |
545 |
1.1e-7 |
PFAM |
|
Pfam:HEAT_2
|
599 |
693 |
3.3e-15 |
PFAM |
|
Pfam:PC_rep
|
651 |
685 |
1.1e-11 |
PFAM |
|
low complexity region
|
818 |
828 |
N/A |
INTRINSIC |
|
low complexity region
|
837 |
872 |
N/A |
INTRINSIC |
|
low complexity region
|
936 |
949 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135197
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139715
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149946
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152184
|
| Meta Mutation Damage Score |
0.5319 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
FUNCTION: In eukaryotic cells, most proteins in the cytosol and nucleus are degraded via the ubiquitin-proteasome pathway. The 26S proteasome is a self-compartmentalizing protease comprised of approximately 31 different subunits. It contains a barrel-shaped proteolytic core complex (the 20S proteasome), capped at one or both ends by 19S regulatory complexes, which recognize ubiquitinated proteins. Protein degradation by proteasomes is the source of most antigenic peptides presented on MHC class I molecules. This gene encodes a non-ATPase subunit of the 26S proteasome. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
G |
T |
6: 34,776,664 (GRCm39) |
S385I |
probably damaging |
Het |
| Arhgap28 |
G |
A |
17: 68,203,088 (GRCm39) |
P122S |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,186,967 (GRCm39) |
V73A |
probably benign |
Het |
| Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
| Cacybp |
T |
C |
1: 160,031,222 (GRCm39) |
D202G |
probably benign |
Het |
| Chsy3 |
C |
G |
18: 59,309,242 (GRCm39) |
P165R |
probably benign |
Het |
| Creb3 |
C |
T |
4: 43,565,501 (GRCm39) |
Q227* |
probably null |
Het |
| Crnkl1 |
C |
A |
2: 145,773,226 (GRCm39) |
R140L |
probably damaging |
Het |
| Cyth4 |
A |
G |
15: 78,488,849 (GRCm39) |
E39G |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,168,481 (GRCm39) |
T481A |
probably benign |
Het |
| Dock4 |
T |
A |
12: 40,829,123 (GRCm39) |
I1003N |
possibly damaging |
Het |
| Galntl5 |
T |
C |
5: 25,391,178 (GRCm39) |
F26L |
probably benign |
Het |
| Glrx5 |
C |
G |
12: 104,999,147 (GRCm39) |
C63W |
probably damaging |
Het |
| Gm9602 |
T |
A |
14: 15,932,645 (GRCm39) |
I28N |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,006,101 (GRCm39) |
T900A |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,525,328 (GRCm39) |
|
probably null |
Het |
| Ighv1-24 |
G |
T |
12: 114,736,685 (GRCm39) |
L72I |
probably benign |
Het |
| Ilvbl |
G |
A |
10: 78,414,869 (GRCm39) |
C244Y |
probably benign |
Het |
| Kat7 |
A |
G |
11: 95,182,441 (GRCm39) |
|
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lamc1 |
A |
T |
1: 153,138,454 (GRCm39) |
|
probably null |
Het |
| Mall |
T |
A |
2: 127,550,774 (GRCm39) |
I129F |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,693,506 (GRCm39) |
K1044* |
probably null |
Het |
| Med23 |
A |
T |
10: 24,768,490 (GRCm39) |
R77* |
probably null |
Het |
| Med23 |
G |
A |
10: 24,768,491 (GRCm39) |
|
probably null |
Het |
| Metap2 |
A |
T |
10: 93,706,026 (GRCm39) |
L252* |
probably null |
Het |
| Or8k28 |
A |
T |
2: 86,285,691 (GRCm39) |
V308E |
probably benign |
Het |
| Psmd9 |
C |
T |
5: 123,372,653 (GRCm39) |
|
probably benign |
Het |
| Rbbp5 |
T |
C |
1: 132,420,325 (GRCm39) |
V59A |
probably damaging |
Het |
| Sco2 |
T |
C |
15: 89,257,882 (GRCm39) |
|
probably benign |
Het |
| Slc32a1 |
G |
T |
2: 158,456,656 (GRCm39) |
C437F |
possibly damaging |
Het |
| Spem2 |
T |
C |
11: 69,707,990 (GRCm39) |
E325G |
possibly damaging |
Het |
| Steap4 |
A |
G |
5: 8,027,017 (GRCm39) |
T327A |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,848,011 (GRCm39) |
D70G |
probably benign |
Het |
| Txndc5 |
T |
C |
13: 38,707,381 (GRCm39) |
K99E |
probably benign |
Het |
|
| Other mutations in Psmd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00772:Psmd1
|
APN |
1 |
86,017,920 (GRCm39) |
splice site |
probably benign |
|
|
IGL02410:Psmd1
|
APN |
1 |
86,005,159 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02455:Psmd1
|
APN |
1 |
86,006,302 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03015:Psmd1
|
APN |
1 |
86,055,914 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03100:Psmd1
|
APN |
1 |
86,046,243 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Neutralized
|
UTSW |
1 |
86,012,914 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Rickety
|
UTSW |
1 |
85,998,350 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4480001:Psmd1
|
UTSW |
1 |
86,055,960 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0027:Psmd1
|
UTSW |
1 |
86,021,987 (GRCm39) |
splice site |
probably benign |
|
|
R0115:Psmd1
|
UTSW |
1 |
86,010,993 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0201:Psmd1
|
UTSW |
1 |
86,046,338 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0206:Psmd1
|
UTSW |
1 |
86,061,463 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0208:Psmd1
|
UTSW |
1 |
86,061,463 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0255:Psmd1
|
UTSW |
1 |
86,006,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0486:Psmd1
|
UTSW |
1 |
86,022,012 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0675:Psmd1
|
UTSW |
1 |
86,009,761 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0790:Psmd1
|
UTSW |
1 |
86,005,172 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1565:Psmd1
|
UTSW |
1 |
86,019,719 (GRCm39) |
splice site |
probably benign |
|
|
R1721:Psmd1
|
UTSW |
1 |
85,999,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2010:Psmd1
|
UTSW |
1 |
86,003,719 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2098:Psmd1
|
UTSW |
1 |
86,009,823 (GRCm39) |
splice site |
probably null |
|
|
R2118:Psmd1
|
UTSW |
1 |
86,006,422 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2119:Psmd1
|
UTSW |
1 |
86,006,422 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2120:Psmd1
|
UTSW |
1 |
86,006,422 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2122:Psmd1
|
UTSW |
1 |
86,006,422 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2504:Psmd1
|
UTSW |
1 |
86,017,719 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3810:Psmd1
|
UTSW |
1 |
86,060,437 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3978:Psmd1
|
UTSW |
1 |
86,055,909 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4131:Psmd1
|
UTSW |
1 |
86,006,422 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4360:Psmd1
|
UTSW |
1 |
86,061,459 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4386:Psmd1
|
UTSW |
1 |
86,055,914 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4402:Psmd1
|
UTSW |
1 |
86,003,673 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4591:Psmd1
|
UTSW |
1 |
86,055,926 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4783:Psmd1
|
UTSW |
1 |
86,006,434 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4824:Psmd1
|
UTSW |
1 |
86,064,820 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4937:Psmd1
|
UTSW |
1 |
86,010,947 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5443:Psmd1
|
UTSW |
1 |
86,017,905 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5486:Psmd1
|
UTSW |
1 |
86,064,772 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5979:Psmd1
|
UTSW |
1 |
86,017,775 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6033:Psmd1
|
UTSW |
1 |
86,064,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6425:Psmd1
|
UTSW |
1 |
85,998,350 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7467:Psmd1
|
UTSW |
1 |
86,044,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8257:Psmd1
|
UTSW |
1 |
86,006,345 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8390:Psmd1
|
UTSW |
1 |
86,006,329 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8750:Psmd1
|
UTSW |
1 |
86,016,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8890:Psmd1
|
UTSW |
1 |
86,012,914 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9017:Psmd1
|
UTSW |
1 |
86,054,231 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9142:Psmd1
|
UTSW |
1 |
86,064,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9330:Psmd1
|
UTSW |
1 |
86,061,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9799:Psmd1
|
UTSW |
1 |
86,054,236 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Z1177:Psmd1
|
UTSW |
1 |
86,010,890 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGGGCAGATCTAAAAGATTGG -3'
(R):5'- CTCATTGAAAAGGCTGAGAGC -3'
Sequencing Primer
(F):5'- TTTGGAGACAGCCTCAGTAGC -3'
(R):5'- CAAAGTACAACAGTGTTTAAGGAATC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation