Incidental Mutation 'IGL01353:Psmd3'
| ID |
75426 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Psmd3
|
| Ensembl Gene |
ENSMUSG00000017221 |
| Gene Name |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 |
| Synonyms |
Tstap91a, AntP91a, Psd3 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
IGL01353
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
98573380-98586804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 98581426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 271
(V271E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017365]
|
| AlphaFold |
P14685 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017365
AA Change: V271E
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000017365
Gene: ENSMUSG00000017221
AA Change: V271E
| 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: V55E
|
| SMART Domains |
Protein: ENSMUSP00000116968
Gene: ENSMUSG00000017221
AA Change: V55E
| 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 |
|
| 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. 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
T |
11: 94,242,934 (GRCm39) |
V1304E |
possibly damaging |
Het |
| Acr |
T |
C |
15: 89,453,695 (GRCm39) |
L78P |
probably damaging |
Het |
| Adamts12 |
T |
C |
15: 11,292,091 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
T |
C |
4: 129,906,093 (GRCm39) |
S872P |
probably damaging |
Het |
| Adhfe1 |
T |
A |
1: 9,637,088 (GRCm39) |
N413K |
probably benign |
Het |
| Apoh |
T |
A |
11: 108,288,211 (GRCm39) |
C110S |
probably damaging |
Het |
| Arhgap11a |
A |
G |
2: 113,663,869 (GRCm39) |
F805L |
probably damaging |
Het |
| Bin3 |
C |
T |
14: 70,372,275 (GRCm39) |
L191F |
possibly damaging |
Het |
| Col3a1 |
A |
G |
1: 45,372,798 (GRCm39) |
|
probably benign |
Het |
| Dapp1 |
T |
C |
3: 137,667,241 (GRCm39) |
K107R |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,233,418 (GRCm39) |
V259A |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,150,439 (GRCm39) |
M775V |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,971,397 (GRCm39) |
L1597P |
probably damaging |
Het |
| Elfn2 |
G |
A |
15: 78,556,618 (GRCm39) |
A643V |
possibly damaging |
Het |
| Epha6 |
T |
C |
16: 60,245,258 (GRCm39) |
T314A |
probably damaging |
Het |
| Fn1 |
C |
A |
1: 71,626,098 (GRCm39) |
W2237L |
probably damaging |
Het |
| Foxp4 |
T |
A |
17: 48,199,078 (GRCm39) |
D97V |
probably damaging |
Het |
| Kcnb2 |
C |
A |
1: 15,781,048 (GRCm39) |
T640K |
probably benign |
Het |
| Lypd10 |
G |
T |
7: 24,413,662 (GRCm39) |
S226I |
probably damaging |
Het |
| Miga2 |
G |
A |
2: 30,261,245 (GRCm39) |
|
probably null |
Het |
| Nacad |
T |
A |
11: 6,550,530 (GRCm39) |
Q887L |
possibly damaging |
Het |
| Or2m13 |
C |
T |
16: 19,226,333 (GRCm39) |
M145I |
probably benign |
Het |
| Or4d1 |
T |
C |
11: 87,804,998 (GRCm39) |
I245V |
probably benign |
Het |
| Or7e173 |
T |
C |
9: 19,938,343 (GRCm39) |
N297S |
probably damaging |
Het |
| Or8k24 |
A |
T |
2: 86,216,365 (GRCm39) |
Y132* |
probably null |
Het |
| Otub2 |
A |
T |
12: 103,370,581 (GRCm39) |
M288L |
probably benign |
Het |
| Otud4 |
A |
G |
8: 80,391,650 (GRCm39) |
S432G |
probably benign |
Het |
| Pcca |
G |
A |
14: 122,820,029 (GRCm39) |
V58I |
probably damaging |
Het |
| Pdpr |
T |
A |
8: 111,847,910 (GRCm39) |
|
probably null |
Het |
| Pinx1 |
C |
A |
14: 64,103,564 (GRCm39) |
Q48K |
probably benign |
Het |
| Pkd1l2 |
G |
T |
8: 117,784,182 (GRCm39) |
S698R |
probably benign |
Het |
| Psg29 |
A |
G |
7: 16,938,938 (GRCm39) |
R71G |
possibly damaging |
Het |
| Smarcc1 |
A |
G |
9: 109,964,734 (GRCm39) |
N97S |
probably benign |
Het |
| Sulf2 |
C |
T |
2: 165,929,015 (GRCm39) |
G319S |
probably damaging |
Het |
| Tmem67 |
C |
A |
4: 12,079,895 (GRCm39) |
C132F |
probably damaging |
Het |
| Ttll7 |
T |
C |
3: 146,667,474 (GRCm39) |
L780P |
probably damaging |
Het |
| Vmn1r223 |
A |
G |
13: 23,433,426 (GRCm39) |
T7A |
unknown |
Het |
| Vmn1r76 |
T |
G |
7: 11,664,737 (GRCm39) |
H159P |
probably damaging |
Het |
| Vnn1 |
G |
A |
10: 23,776,738 (GRCm39) |
C363Y |
probably damaging |
Het |
| Wdr64 |
T |
G |
1: 175,559,151 (GRCm39) |
L305V |
probably damaging |
Het |
| Zkscan4 |
T |
C |
13: 21,668,518 (GRCm39) |
L323P |
probably damaging |
Het |
| Zscan10 |
A |
T |
17: 23,828,574 (GRCm39) |
H295L |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation