Incidental Mutation 'R3607:Psmd3'
| ID |
269128 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psmd3
|
| Ensembl Gene |
ENSMUSG00000017221 |
| Gene Name |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 |
| Synonyms |
Tstap91a, AntP91a, Psd3 |
| MMRRC Submission |
040671-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R3607 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
98573380-98586804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 98581780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 302
(R302W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017365]
|
| AlphaFold |
P14685 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017365
AA Change: R302W
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000017365
Gene: ENSMUSG00000017221
AA Change: R302W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
51 |
N/A |
INTRINSIC |
|
PAM
|
217 |
389 |
1.07e-68 |
SMART |
|
PINT
|
389 |
479 |
3.26e-27 |
SMART |
|
coiled coil region
|
495 |
527 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000123676
AA Change: R86W
|
| SMART Domains |
Protein: ENSMUSP00000116968
Gene: ENSMUSG00000017221
AA Change: R86W
| Domain | Start | End | E-Value | Type |
|---|
|
PAM
|
2 |
198 |
2.1e-62 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142790
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149489
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152102
|
| Meta Mutation Damage Score |
0.3298 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.3%
|
| Validation Efficiency |
98% (48/49) |
| 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. This gene encodes a member of the proteasome subunit S3 family that functions as one of the non-ATPase subunits of the 19S regulator lid. Single nucleotide polymorphisms in this gene are associated with neutrophil count. [provided by RefSeq, Jul 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930510E17Rik |
C |
A |
9: 53,191,083 (GRCm39) |
|
noncoding transcript |
Het |
| Adnp2 |
A |
T |
18: 80,172,284 (GRCm39) |
N708K |
probably damaging |
Het |
| Arhgef17 |
C |
A |
7: 100,580,379 (GRCm39) |
G190W |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,408,406 (GRCm39) |
M2431K |
probably benign |
Het |
| Aurkc |
A |
G |
7: 7,005,859 (GRCm39) |
Y157C |
probably damaging |
Het |
| Bpifb1 |
T |
A |
2: 154,053,485 (GRCm39) |
N242K |
possibly damaging |
Het |
| Cracr2b |
C |
T |
7: 141,046,059 (GRCm39) |
P370S |
possibly damaging |
Het |
| Etv1 |
A |
G |
12: 38,881,085 (GRCm39) |
Y66C |
probably damaging |
Het |
| F830016B08Rik |
A |
T |
18: 60,433,780 (GRCm39) |
K288* |
probably null |
Het |
| Fam131a |
C |
T |
16: 20,520,345 (GRCm39) |
P181L |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,172,511 (GRCm39) |
E2734V |
probably damaging |
Het |
| Fgfrl1 |
C |
A |
5: 108,853,289 (GRCm39) |
T213K |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gmfg |
T |
A |
7: 28,140,961 (GRCm39) |
|
probably null |
Het |
| Gtpbp8 |
T |
C |
16: 44,564,119 (GRCm39) |
Y184C |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,141,646 (GRCm39) |
E2G |
probably damaging |
Het |
| Itpr2 |
T |
G |
6: 146,129,099 (GRCm39) |
T2005P |
probably damaging |
Het |
| Kmt2a |
G |
A |
9: 44,760,493 (GRCm39) |
T485M |
probably damaging |
Het |
| Kng1 |
T |
C |
16: 22,886,552 (GRCm39) |
F112L |
probably damaging |
Het |
| Kprp |
C |
A |
3: 92,731,588 (GRCm39) |
Q487H |
unknown |
Het |
| Lctl |
T |
C |
9: 64,040,475 (GRCm39) |
Y473H |
probably damaging |
Het |
| Lpin2 |
T |
A |
17: 71,536,387 (GRCm39) |
D225E |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,119,775 (GRCm39) |
V177A |
probably damaging |
Het |
| Nkrf |
T |
G |
X: 36,153,730 (GRCm39) |
N184T |
probably benign |
Het |
| Nt5c1b |
A |
G |
12: 10,427,236 (GRCm39) |
N329D |
probably damaging |
Het |
| Ogdhl |
T |
A |
14: 32,057,318 (GRCm39) |
V308E |
probably damaging |
Het |
| Or14a258 |
A |
G |
7: 86,034,903 (GRCm39) |
C322R |
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 81,975,066 (GRCm39) |
F791I |
probably damaging |
Het |
| Prkg2 |
G |
T |
5: 99,095,236 (GRCm39) |
T616K |
probably damaging |
Het |
| Ptpn1 |
A |
G |
2: 167,817,427 (GRCm39) |
S355G |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,040,917 (GRCm39) |
N398D |
probably benign |
Het |
| Ranbp10 |
A |
G |
8: 106,502,667 (GRCm39) |
S300P |
probably benign |
Het |
| Rbl1 |
A |
T |
2: 157,019,153 (GRCm39) |
F531I |
probably damaging |
Het |
| Rgl3 |
A |
G |
9: 21,898,987 (GRCm39) |
S151P |
probably damaging |
Het |
| Rnf213 |
C |
A |
11: 119,332,802 (GRCm39) |
C2670* |
probably null |
Het |
| Tex16 |
T |
A |
X: 111,003,667 (GRCm39) |
S159T |
probably damaging |
Het |
| Tnfaip3 |
A |
G |
10: 18,881,350 (GRCm39) |
I312T |
probably damaging |
Het |
| Traf2 |
T |
C |
2: 25,420,427 (GRCm39) |
T141A |
probably benign |
Het |
| Trpm7 |
T |
C |
2: 126,638,348 (GRCm39) |
|
probably benign |
Het |
| Usp11 |
T |
G |
X: 20,580,871 (GRCm39) |
F426L |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,851,420 (GRCm39) |
T1180K |
probably damaging |
Het |
| Wasf1 |
G |
C |
10: 40,812,380 (GRCm39) |
A390P |
unknown |
Het |
| Yif1b |
C |
T |
7: 28,937,835 (GRCm39) |
A7V |
possibly damaging |
Het |
|
| Other mutations in Psmd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00957:Psmd3
|
APN |
11 |
98,576,394 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01353:Psmd3
|
APN |
11 |
98,581,426 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1368:Psmd3
|
UTSW |
11 |
98,573,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1563:Psmd3
|
UTSW |
11 |
98,585,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2258:Psmd3
|
UTSW |
11 |
98,581,790 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2259:Psmd3
|
UTSW |
11 |
98,581,790 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3606:Psmd3
|
UTSW |
11 |
98,581,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4616:Psmd3
|
UTSW |
11 |
98,573,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4833:Psmd3
|
UTSW |
11 |
98,578,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5033:Psmd3
|
UTSW |
11 |
98,573,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5585:Psmd3
|
UTSW |
11 |
98,573,707 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R5687:Psmd3
|
UTSW |
11 |
98,584,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5929:Psmd3
|
UTSW |
11 |
98,586,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6028:Psmd3
|
UTSW |
11 |
98,576,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6240:Psmd3
|
UTSW |
11 |
98,584,479 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6449:Psmd3
|
UTSW |
11 |
98,576,466 (GRCm39) |
missense |
probably benign |
|
|
R6956:Psmd3
|
UTSW |
11 |
98,586,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7009:Psmd3
|
UTSW |
11 |
98,573,592 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7051:Psmd3
|
UTSW |
11 |
98,573,659 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7401:Psmd3
|
UTSW |
11 |
98,576,466 (GRCm39) |
missense |
probably benign |
|
|
R7449:Psmd3
|
UTSW |
11 |
98,586,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7549:Psmd3
|
UTSW |
11 |
98,581,787 (GRCm39) |
missense |
probably benign |
0.38 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCCCAGATAGGCACATGAG -3'
(R):5'- AACTCCGACACTGATAGCCG -3'
Sequencing Primer
(F):5'- GGCCTGCACATGGGATAATCTAC -3'
(R):5'- ACACTGATAGCCGAGGCAGC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation