Incidental Mutation 'IGL02311:Uso1'
ID |
287806 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Uso1
|
Ensembl Gene |
ENSMUSG00000029407 |
Gene Name |
USO1 vesicle docking factor |
Synonyms |
transcytosis associated protein p115, TAP, Vdp |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02311
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
92285797-92350657 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 92335635 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 548
(S548T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144592
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031355]
[ENSMUST00000201642]
[ENSMUST00000202155]
|
AlphaFold |
Q9Z1Z0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031355
AA Change: S548T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000031355 Gene: ENSMUSG00000029407 AA Change: S548T
Domain | Start | End | E-Value | Type |
Blast:ARM
|
47 |
91 |
1e-18 |
BLAST |
low complexity region
|
94 |
100 |
N/A |
INTRINSIC |
Blast:ARM
|
155 |
195 |
2e-15 |
BLAST |
Blast:ARM
|
300 |
342 |
3e-19 |
BLAST |
Pfam:Uso1_p115_head
|
344 |
628 |
6.5e-72 |
PFAM |
low complexity region
|
630 |
643 |
N/A |
INTRINSIC |
low complexity region
|
661 |
672 |
N/A |
INTRINSIC |
low complexity region
|
730 |
744 |
N/A |
INTRINSIC |
Pfam:Uso1_p115_C
|
782 |
954 |
1.6e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201380
|
Predicted Effect |
unknown
Transcript: ENSMUST00000201642
AA Change: F66L
|
SMART Domains |
Protein: ENSMUSP00000144165 Gene: ENSMUSG00000029407 AA Change: F66L
Domain | Start | End | E-Value | Type |
PDB:3GRL|A
|
1 |
52 |
5e-24 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202155
AA Change: S548T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000144592 Gene: ENSMUSG00000029407 AA Change: S548T
Domain | Start | End | E-Value | Type |
Blast:ARM
|
47 |
91 |
1e-18 |
BLAST |
low complexity region
|
94 |
100 |
N/A |
INTRINSIC |
Blast:ARM
|
155 |
195 |
2e-15 |
BLAST |
Blast:ARM
|
300 |
342 |
3e-19 |
BLAST |
Pfam:Uso1_p115_head
|
344 |
628 |
5.7e-72 |
PFAM |
low complexity region
|
630 |
643 |
N/A |
INTRINSIC |
low complexity region
|
661 |
672 |
N/A |
INTRINSIC |
Pfam:Uso1_p115_C
|
730 |
892 |
2.1e-14 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202362
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202399
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethality between E3.5 and E8.5 with disruption of Golgi apparatus in blastocyst cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1500035N22Rik |
C |
A |
5: 25,202,705 (GRCm39) |
|
probably benign |
Het |
Adam21 |
T |
G |
12: 81,607,666 (GRCm39) |
D32A |
probably benign |
Het |
Asns |
A |
G |
6: 7,676,233 (GRCm39) |
|
probably null |
Het |
Bin3 |
A |
T |
14: 70,361,666 (GRCm39) |
M45L |
probably benign |
Het |
Cfap44 |
A |
T |
16: 44,225,134 (GRCm39) |
|
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,227,163 (GRCm39) |
T2642A |
probably benign |
Het |
Dbndd2 |
T |
C |
2: 164,330,622 (GRCm39) |
S92P |
possibly damaging |
Het |
Dclre1b |
A |
C |
3: 103,715,409 (GRCm39) |
F30V |
probably damaging |
Het |
Dock6 |
T |
C |
9: 21,755,624 (GRCm39) |
D200G |
probably damaging |
Het |
Epb41l4b |
C |
A |
4: 57,076,456 (GRCm39) |
R335L |
probably damaging |
Het |
Fscn1 |
T |
C |
5: 142,957,765 (GRCm39) |
V304A |
probably benign |
Het |
Gm7008 |
G |
A |
12: 40,273,385 (GRCm39) |
|
probably benign |
Het |
Gm8237 |
A |
G |
14: 5,864,425 (GRCm38) |
|
probably null |
Het |
Ifih1 |
T |
C |
2: 62,440,847 (GRCm39) |
T440A |
probably damaging |
Het |
Mepe |
C |
T |
5: 104,485,571 (GRCm39) |
S237F |
probably damaging |
Het |
Nr4a2 |
T |
C |
2: 57,001,743 (GRCm39) |
I174V |
probably benign |
Het |
Or2ag2 |
A |
G |
7: 106,485,101 (GRCm39) |
Y308H |
probably benign |
Het |
Or8c11 |
C |
T |
9: 38,289,194 (GRCm39) |
Q6* |
probably null |
Het |
Orc1 |
G |
T |
4: 108,457,171 (GRCm39) |
V404L |
probably benign |
Het |
Pcsk5 |
G |
T |
19: 17,410,784 (GRCm39) |
Y1869* |
probably null |
Het |
Phf21b |
A |
G |
15: 84,678,095 (GRCm39) |
|
probably null |
Het |
Pigg |
A |
G |
5: 108,484,246 (GRCm39) |
T631A |
probably benign |
Het |
Plxnb1 |
A |
G |
9: 108,930,190 (GRCm39) |
N349D |
probably benign |
Het |
Scaf11 |
T |
C |
15: 96,316,637 (GRCm39) |
S976G |
probably benign |
Het |
Scn8a |
G |
T |
15: 100,911,164 (GRCm39) |
M861I |
probably damaging |
Het |
Stau1 |
T |
C |
2: 166,792,239 (GRCm39) |
N433S |
probably damaging |
Het |
Synrg |
A |
G |
11: 83,910,630 (GRCm39) |
K854R |
probably benign |
Het |
Tbata |
T |
A |
10: 61,015,234 (GRCm39) |
C150* |
probably null |
Het |
Tcn2 |
G |
A |
11: 3,867,692 (GRCm39) |
P417S |
probably damaging |
Het |
Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
Tpr |
G |
T |
1: 150,274,404 (GRCm39) |
D104Y |
probably damaging |
Het |
Ubash3b |
T |
C |
9: 40,958,333 (GRCm39) |
T16A |
probably benign |
Het |
Vps13b |
T |
A |
15: 35,709,660 (GRCm39) |
V1869E |
probably benign |
Het |
Vps18 |
T |
C |
2: 119,120,732 (GRCm39) |
C64R |
probably benign |
Het |
Zic2 |
C |
A |
14: 122,713,606 (GRCm39) |
N173K |
probably damaging |
Het |
|
Other mutations in Uso1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01522:Uso1
|
APN |
5 |
92,329,278 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01753:Uso1
|
APN |
5 |
92,300,777 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02539:Uso1
|
APN |
5 |
92,335,632 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02716:Uso1
|
APN |
5 |
92,321,794 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03154:Uso1
|
APN |
5 |
92,328,477 (GRCm39) |
nonsense |
probably null |
|
R0558:Uso1
|
UTSW |
5 |
92,321,878 (GRCm39) |
missense |
probably benign |
0.03 |
R0570:Uso1
|
UTSW |
5 |
92,347,682 (GRCm39) |
missense |
probably benign |
0.19 |
R1195:Uso1
|
UTSW |
5 |
92,318,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R1195:Uso1
|
UTSW |
5 |
92,318,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R1195:Uso1
|
UTSW |
5 |
92,318,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R1398:Uso1
|
UTSW |
5 |
92,329,327 (GRCm39) |
missense |
probably benign |
0.16 |
R1485:Uso1
|
UTSW |
5 |
92,328,422 (GRCm39) |
missense |
possibly damaging |
0.76 |
R1813:Uso1
|
UTSW |
5 |
92,348,992 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1873:Uso1
|
UTSW |
5 |
92,340,718 (GRCm39) |
splice site |
probably benign |
|
R1896:Uso1
|
UTSW |
5 |
92,348,992 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1899:Uso1
|
UTSW |
5 |
92,349,051 (GRCm39) |
missense |
probably benign |
0.27 |
R2049:Uso1
|
UTSW |
5 |
92,329,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R2128:Uso1
|
UTSW |
5 |
92,343,229 (GRCm39) |
missense |
probably benign |
|
R2411:Uso1
|
UTSW |
5 |
92,306,258 (GRCm39) |
splice site |
probably benign |
|
R2903:Uso1
|
UTSW |
5 |
92,343,294 (GRCm39) |
critical splice donor site |
probably null |
|
R5055:Uso1
|
UTSW |
5 |
92,340,594 (GRCm39) |
missense |
probably benign |
0.31 |
R5155:Uso1
|
UTSW |
5 |
92,315,194 (GRCm39) |
critical splice donor site |
probably null |
|
R5590:Uso1
|
UTSW |
5 |
92,328,467 (GRCm39) |
missense |
probably benign |
0.05 |
R5665:Uso1
|
UTSW |
5 |
92,346,196 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5677:Uso1
|
UTSW |
5 |
92,349,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R5996:Uso1
|
UTSW |
5 |
92,340,589 (GRCm39) |
missense |
probably benign |
0.00 |
R6165:Uso1
|
UTSW |
5 |
92,335,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R6340:Uso1
|
UTSW |
5 |
92,347,711 (GRCm39) |
missense |
probably benign |
0.01 |
R6701:Uso1
|
UTSW |
5 |
92,314,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R6860:Uso1
|
UTSW |
5 |
92,343,207 (GRCm39) |
missense |
probably benign |
0.11 |
R7062:Uso1
|
UTSW |
5 |
92,340,599 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7133:Uso1
|
UTSW |
5 |
92,306,324 (GRCm39) |
missense |
probably benign |
0.12 |
R7317:Uso1
|
UTSW |
5 |
92,321,851 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7527:Uso1
|
UTSW |
5 |
92,347,734 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7648:Uso1
|
UTSW |
5 |
92,341,861 (GRCm39) |
splice site |
probably null |
|
R7707:Uso1
|
UTSW |
5 |
92,349,795 (GRCm39) |
makesense |
probably null |
|
R8009:Uso1
|
UTSW |
5 |
92,314,439 (GRCm39) |
missense |
probably benign |
0.03 |
R8104:Uso1
|
UTSW |
5 |
92,306,280 (GRCm39) |
missense |
probably damaging |
0.99 |
R8361:Uso1
|
UTSW |
5 |
92,337,121 (GRCm39) |
missense |
probably null |
0.00 |
R8519:Uso1
|
UTSW |
5 |
92,343,222 (GRCm39) |
missense |
probably benign |
|
R9052:Uso1
|
UTSW |
5 |
92,328,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R9142:Uso1
|
UTSW |
5 |
92,335,125 (GRCm39) |
nonsense |
probably null |
|
R9221:Uso1
|
UTSW |
5 |
92,335,173 (GRCm39) |
missense |
probably benign |
0.38 |
R9492:Uso1
|
UTSW |
5 |
92,315,191 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9642:Uso1
|
UTSW |
5 |
92,285,967 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Uso1
|
UTSW |
5 |
92,285,989 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Posted On |
2015-04-16 |