Incidental Mutation 'IGL01753:Uso1'
| ID |
153168 |
| 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 # |
IGL01753
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
92285797-92350657 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 92300777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031355]
[ENSMUST00000201642]
[ENSMUST00000202155]
|
| AlphaFold |
Q9Z1Z0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031355
|
| SMART Domains |
Protein: ENSMUSP00000031355
Gene: ENSMUSG00000029407
| 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 null
Transcript: ENSMUST00000202155
|
| SMART Domains |
Protein: ENSMUSP00000144592
Gene: ENSMUSG00000029407
| 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 |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
A |
G |
16: 85,599,112 (GRCm39) |
F163L |
probably benign |
Het |
| Ap2b1 |
A |
G |
11: 83,212,799 (GRCm39) |
T60A |
probably damaging |
Het |
| Casp3 |
A |
G |
8: 47,082,776 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,919,438 (GRCm39) |
Y118C |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,087,015 (GRCm39) |
|
probably benign |
Het |
| Clec4b2 |
A |
T |
6: 123,179,169 (GRCm39) |
Y157F |
possibly damaging |
Het |
| Crppa |
C |
T |
12: 36,523,176 (GRCm39) |
L202F |
probably damaging |
Het |
| Dlg4 |
T |
A |
11: 69,932,173 (GRCm39) |
F480I |
probably damaging |
Het |
| Dock8 |
T |
A |
19: 25,038,656 (GRCm39) |
|
probably benign |
Het |
| Dsg1b |
T |
C |
18: 20,530,906 (GRCm39) |
|
probably benign |
Het |
| Dstyk |
T |
C |
1: 132,390,677 (GRCm39) |
Y830H |
probably damaging |
Het |
| Hook2 |
T |
C |
8: 85,719,865 (GRCm39) |
|
probably null |
Het |
| Ighv2-9-1 |
T |
C |
12: 113,733,548 (GRCm39) |
D91G |
probably damaging |
Het |
| Igkv12-41 |
T |
C |
6: 69,835,510 (GRCm39) |
R81G |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,067,794 (GRCm39) |
S1766T |
probably damaging |
Het |
| Mdn1 |
G |
A |
4: 32,708,483 (GRCm39) |
V1670I |
probably benign |
Het |
| Naa15 |
T |
C |
3: 51,350,274 (GRCm39) |
F124L |
probably damaging |
Het |
| Nek2 |
C |
T |
1: 191,557,598 (GRCm39) |
Q187* |
probably null |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Pif1 |
G |
A |
9: 65,500,590 (GRCm39) |
G505D |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,287,413 (GRCm39) |
I495F |
probably benign |
Het |
| Ppp1r21 |
T |
C |
17: 88,869,530 (GRCm39) |
|
probably benign |
Het |
| Prex1 |
T |
C |
2: 166,444,802 (GRCm39) |
I282V |
probably benign |
Het |
| Pzp |
A |
T |
6: 128,479,146 (GRCm39) |
I669N |
possibly damaging |
Het |
| Sipa1l2 |
T |
A |
8: 126,180,031 (GRCm39) |
|
probably benign |
Het |
| Top2a |
T |
A |
11: 98,898,100 (GRCm39) |
T689S |
probably damaging |
Het |
| Trerf1 |
T |
A |
17: 47,626,362 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,674,139 (GRCm39) |
V399E |
probably damaging |
Het |
| Zcchc7 |
A |
G |
4: 44,929,217 (GRCm39) |
I390V |
probably benign |
Het |
| Zfp90 |
C |
T |
8: 107,150,782 (GRCm39) |
T165I |
probably benign |
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 |
|
IGL02311:Uso1
|
APN |
5 |
92,335,635 (GRCm39) |
missense |
probably benign |
|
|
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 |
2014-02-04 |
Incidental Mutation