Incidental Mutation 'IGL01522:Uso1'
| ID |
89438 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Uso1
|
| Ensembl Gene |
ENSMUSG00000029407 |
| Gene Name |
USO1 vesicle docking factor |
| Synonyms |
Vdp, TAP, transcytosis associated protein p115 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01522
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
92137938-92202798 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92181419 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 389
(F389L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031355]
[ENSMUST00000201642]
[ENSMUST00000202155]
|
| AlphaFold |
Q9Z1Z0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031355
AA Change: F389L
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031355
Gene: ENSMUSG00000029407
AA Change: F389L
| 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 |
probably benign
Transcript: ENSMUST00000201642
|
| SMART Domains |
Protein: ENSMUSP00000144165
Gene: ENSMUSG00000029407
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3GRL|A
|
1 |
52 |
5e-24 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202155
AA Change: F389L
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144592
Gene: ENSMUSG00000029407
AA Change: F389L
| 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
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610010F05Rik |
A |
G |
11: 23,582,865 (GRCm38) |
|
probably null |
Het |
| Adamts12 |
T |
C |
15: 11,065,159 (GRCm38) |
|
probably null |
Het |
| Adamts3 |
T |
C |
5: 89,702,943 (GRCm38) |
N579S |
probably benign |
Het |
| Akr1c19 |
A |
G |
13: 4,239,099 (GRCm38) |
|
probably benign |
Het |
| Ankrd39 |
T |
A |
1: 36,542,061 (GRCm38) |
H69L |
probably damaging |
Het |
| Apcdd1 |
T |
A |
18: 62,952,115 (GRCm38) |
M461K |
possibly damaging |
Het |
| Bpifa3 |
G |
A |
2: 154,137,582 (GRCm38) |
C209Y |
probably damaging |
Het |
| Cep131 |
T |
C |
11: 120,067,163 (GRCm38) |
E779G |
probably benign |
Het |
| Cep85 |
G |
T |
4: 134,152,256 (GRCm38) |
Q394K |
probably damaging |
Het |
| Cep85 |
T |
C |
4: 134,152,255 (GRCm38) |
Q394R |
probably damaging |
Het |
| Clcn6 |
T |
C |
4: 148,017,535 (GRCm38) |
Y364C |
probably benign |
Het |
| Fetub |
G |
A |
16: 22,929,641 (GRCm38) |
M1I |
probably null |
Het |
| Greb1 |
T |
C |
12: 16,701,201 (GRCm38) |
I1003V |
probably damaging |
Het |
| Hsf3 |
A |
G |
X: 96,320,594 (GRCm38) |
|
probably benign |
Het |
| Jcad |
A |
G |
18: 4,673,312 (GRCm38) |
N358S |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,913,972 (GRCm38) |
|
probably benign |
Het |
| Lama1 |
A |
T |
17: 67,752,774 (GRCm38) |
|
probably benign |
Het |
| Mark2 |
A |
G |
19: 7,281,238 (GRCm38) |
V50A |
probably benign |
Het |
| Mmp7 |
T |
C |
9: 7,692,228 (GRCm38) |
W35R |
probably damaging |
Het |
| Ndc80 |
A |
G |
17: 71,499,325 (GRCm38) |
V578A |
probably benign |
Het |
| Nfyc |
T |
C |
4: 120,781,524 (GRCm38) |
E42G |
probably damaging |
Het |
| Olfr1164 |
T |
C |
2: 88,093,016 (GRCm38) |
K307E |
possibly damaging |
Het |
| Olfr1504 |
A |
T |
19: 13,887,358 (GRCm38) |
L284* |
probably null |
Het |
| Olfr344 |
A |
G |
2: 36,569,221 (GRCm38) |
T208A |
probably benign |
Het |
| Olfr547 |
A |
T |
7: 102,535,184 (GRCm38) |
I146F |
probably damaging |
Het |
| Olfr935 |
A |
T |
9: 38,995,100 (GRCm38) |
C112S |
probably benign |
Het |
| Pcdha11 |
T |
C |
18: 37,185,008 (GRCm38) |
F925L |
probably damaging |
Het |
| Pdcd1 |
T |
G |
1: 94,040,846 (GRCm38) |
R154S |
probably benign |
Het |
| Pepd |
T |
A |
7: 34,924,440 (GRCm38) |
D87E |
probably benign |
Het |
| Pfn4 |
A |
G |
12: 4,770,240 (GRCm38) |
T30A |
probably benign |
Het |
| Pgpep1l |
A |
G |
7: 68,237,708 (GRCm38) |
M48T |
possibly damaging |
Het |
| Pla2g15 |
A |
G |
8: 106,163,116 (GRCm38) |
N340S |
probably benign |
Het |
| Plcb4 |
A |
G |
2: 136,002,627 (GRCm38) |
D155G |
probably damaging |
Het |
| Plg |
G |
A |
17: 12,404,069 (GRCm38) |
G499S |
probably damaging |
Het |
| Plin3 |
C |
T |
17: 56,280,799 (GRCm38) |
W305* |
probably null |
Het |
| Polq |
C |
A |
16: 37,027,903 (GRCm38) |
L291I |
probably damaging |
Het |
| Sdf2l1 |
T |
A |
16: 17,132,150 (GRCm38) |
H54L |
probably damaging |
Het |
| Slc38a2 |
C |
T |
15: 96,693,055 (GRCm38) |
D276N |
possibly damaging |
Het |
| Syk |
A |
G |
13: 52,643,061 (GRCm38) |
T576A |
probably benign |
Het |
| Tas2r119 |
G |
A |
15: 32,178,193 (GRCm38) |
V302I |
probably benign |
Het |
| Wwc2 |
T |
A |
8: 47,868,633 (GRCm38) |
Y482F |
unknown |
Het |
|
| Other mutations in Uso1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01753:Uso1
|
APN |
5 |
92,152,918 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02311:Uso1
|
APN |
5 |
92,187,776 (GRCm38) |
missense |
probably benign |
|
|
IGL02539:Uso1
|
APN |
5 |
92,187,773 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02716:Uso1
|
APN |
5 |
92,173,935 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03154:Uso1
|
APN |
5 |
92,180,618 (GRCm38) |
nonsense |
probably null |
|
|
R0558:Uso1
|
UTSW |
5 |
92,174,019 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0570:Uso1
|
UTSW |
5 |
92,199,823 (GRCm38) |
missense |
probably benign |
0.19 |
|
R1195:Uso1
|
UTSW |
5 |
92,170,747 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1195:Uso1
|
UTSW |
5 |
92,170,747 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1195:Uso1
|
UTSW |
5 |
92,170,747 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1398:Uso1
|
UTSW |
5 |
92,181,468 (GRCm38) |
missense |
probably benign |
0.16 |
|
R1485:Uso1
|
UTSW |
5 |
92,180,563 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R1813:Uso1
|
UTSW |
5 |
92,201,133 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1873:Uso1
|
UTSW |
5 |
92,192,859 (GRCm38) |
splice site |
probably benign |
|
|
R1896:Uso1
|
UTSW |
5 |
92,201,133 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1899:Uso1
|
UTSW |
5 |
92,201,192 (GRCm38) |
missense |
probably benign |
0.27 |
|
R2049:Uso1
|
UTSW |
5 |
92,181,936 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2128:Uso1
|
UTSW |
5 |
92,195,370 (GRCm38) |
missense |
probably benign |
|
|
R2411:Uso1
|
UTSW |
5 |
92,158,399 (GRCm38) |
splice site |
probably benign |
|
|
R2903:Uso1
|
UTSW |
5 |
92,195,435 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5055:Uso1
|
UTSW |
5 |
92,192,735 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5155:Uso1
|
UTSW |
5 |
92,167,335 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5590:Uso1
|
UTSW |
5 |
92,180,608 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5665:Uso1
|
UTSW |
5 |
92,198,337 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5677:Uso1
|
UTSW |
5 |
92,201,299 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5996:Uso1
|
UTSW |
5 |
92,192,730 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6165:Uso1
|
UTSW |
5 |
92,187,267 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6340:Uso1
|
UTSW |
5 |
92,199,852 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6701:Uso1
|
UTSW |
5 |
92,166,585 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6860:Uso1
|
UTSW |
5 |
92,195,348 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7062:Uso1
|
UTSW |
5 |
92,192,740 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R7133:Uso1
|
UTSW |
5 |
92,158,465 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7317:Uso1
|
UTSW |
5 |
92,173,992 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R7527:Uso1
|
UTSW |
5 |
92,199,875 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R7648:Uso1
|
UTSW |
5 |
92,194,002 (GRCm38) |
splice site |
probably null |
|
|
R7707:Uso1
|
UTSW |
5 |
92,201,936 (GRCm38) |
makesense |
probably null |
|
|
R8009:Uso1
|
UTSW |
5 |
92,166,580 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8104:Uso1
|
UTSW |
5 |
92,158,421 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8361:Uso1
|
UTSW |
5 |
92,189,262 (GRCm38) |
missense |
probably null |
0.00 |
|
R8519:Uso1
|
UTSW |
5 |
92,195,363 (GRCm38) |
missense |
probably benign |
|
|
R9052:Uso1
|
UTSW |
5 |
92,180,563 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9142:Uso1
|
UTSW |
5 |
92,187,266 (GRCm38) |
nonsense |
probably null |
|
|
R9221:Uso1
|
UTSW |
5 |
92,187,314 (GRCm38) |
missense |
probably benign |
0.38 |
|
R9492:Uso1
|
UTSW |
5 |
92,167,332 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R9642:Uso1
|
UTSW |
5 |
92,138,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Uso1
|
UTSW |
5 |
92,138,130 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2013-12-03 |
Incidental Mutation