Incidental Mutation 'R6449:Psmd3'
| ID |
519305 |
| 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 |
044585-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R6449 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
98573380-98586804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98576466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 123
(T123A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017365]
|
| AlphaFold |
P14685 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017365
AA Change: T123A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000017365
Gene: ENSMUSG00000017221
AA Change: T123A
| 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 |
noncoding transcript
Transcript: ENSMUST00000122854
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123676
|
| SMART Domains |
Protein: ENSMUSP00000116968
Gene: ENSMUSG00000017221
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (44/44) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
C |
T |
7: 41,275,298 (GRCm39) |
Q334* |
probably null |
Het |
| Aadacl2fm2 |
A |
T |
3: 59,652,972 (GRCm39) |
D137V |
probably damaging |
Het |
| Adam28 |
T |
C |
14: 68,868,116 (GRCm39) |
T410A |
probably benign |
Het |
| Ano10 |
T |
C |
9: 122,030,754 (GRCm39) |
|
probably benign |
Het |
| Bmpr2 |
T |
A |
1: 59,906,596 (GRCm39) |
V563E |
probably damaging |
Het |
| Ccdc47 |
A |
G |
11: 106,095,811 (GRCm39) |
L295P |
probably damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,812,554 (GRCm39) |
T210A |
probably benign |
Het |
| Col16a1 |
G |
A |
4: 129,960,486 (GRCm39) |
A408T |
unknown |
Het |
| Csnk1g2 |
A |
G |
10: 80,475,906 (GRCm39) |
K415R |
probably damaging |
Het |
| Cyp2c29 |
G |
T |
19: 39,279,311 (GRCm39) |
A103S |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dsg1b |
A |
T |
18: 20,527,498 (GRCm39) |
I210F |
possibly damaging |
Het |
| Fhod1 |
T |
A |
8: 106,056,869 (GRCm39) |
D1002V |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,938,010 (GRCm39) |
V431I |
probably benign |
Het |
| Gtpbp4 |
A |
T |
13: 9,040,773 (GRCm39) |
C174* |
probably null |
Het |
| Il2ra |
A |
G |
2: 11,685,173 (GRCm39) |
K170E |
probably benign |
Het |
| Itch |
T |
C |
2: 155,005,315 (GRCm39) |
|
probably benign |
Het |
| Jazf1 |
A |
C |
6: 52,754,640 (GRCm39) |
D145E |
probably damaging |
Het |
| Kank2 |
G |
T |
9: 21,691,858 (GRCm39) |
A469E |
possibly damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,902,269 (GRCm39) |
I125V |
probably benign |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Krtap27-1 |
C |
T |
16: 88,467,941 (GRCm39) |
S201N |
probably benign |
Het |
| Map3k20 |
T |
C |
2: 72,228,758 (GRCm39) |
S326P |
probably damaging |
Het |
| Mkks |
C |
A |
2: 136,716,206 (GRCm39) |
V565F |
probably damaging |
Het |
| Ntaq1 |
T |
G |
15: 58,013,994 (GRCm39) |
|
probably null |
Het |
| Or5c1 |
A |
G |
2: 37,221,837 (GRCm39) |
D26G |
possibly damaging |
Het |
| Or5k8 |
A |
T |
16: 58,644,889 (GRCm39) |
I61N |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,493 (GRCm39) |
S229P |
possibly damaging |
Het |
| Pacsin3 |
A |
T |
2: 91,090,514 (GRCm39) |
|
probably null |
Het |
| Pdcd7 |
A |
G |
9: 65,264,057 (GRCm39) |
E434G |
probably damaging |
Het |
| Plekhb2 |
T |
C |
1: 34,903,564 (GRCm39) |
F102L |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,057,458 (GRCm39) |
D191G |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,541,444 (GRCm39) |
V361M |
probably benign |
Het |
| Raver2 |
A |
G |
4: 100,990,869 (GRCm39) |
D414G |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,933,252 (GRCm39) |
H1162Y |
probably benign |
Het |
| Sema4f |
A |
G |
6: 82,894,851 (GRCm39) |
V448A |
probably benign |
Het |
| Tcf12 |
A |
T |
9: 71,775,550 (GRCm39) |
M400K |
probably damaging |
Het |
| Tcl1b2 |
G |
T |
12: 105,119,261 (GRCm39) |
E50* |
probably null |
Het |
| Thada |
A |
C |
17: 84,736,601 (GRCm39) |
D893E |
probably benign |
Het |
| Trim24 |
G |
A |
6: 37,880,587 (GRCm39) |
|
probably null |
Het |
| Ttll5 |
T |
C |
12: 86,071,050 (GRCm39) |
S1308P |
probably benign |
Het |
| Ubtfl1 |
T |
A |
9: 18,320,925 (GRCm39) |
I151N |
possibly damaging |
Het |
| Vmn2r70 |
A |
T |
7: 85,214,157 (GRCm39) |
F332I |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,307,488 (GRCm39) |
D238G |
probably damaging |
Het |
| Zfp639 |
A |
G |
3: 32,573,810 (GRCm39) |
H145R |
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 |
|
R3607: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 |
|
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'- CCAAGGAGTTGCAAGTCACATC -3'
(R):5'- ACTAAAGACAGTCCTTCTCCCG -3'
Sequencing Primer
(F):5'- AGGAGTTGCAAGTCACATCTTTTTCC -3'
(R):5'- GCTCCCGGAGTGCCAAGAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation