Incidental Mutation 'R7648:Uso1'
| ID |
628402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uso1
|
| Ensembl Gene |
ENSMUSG00000029407 |
| Gene Name |
USO1 vesicle docking factor |
| Synonyms |
transcytosis associated protein p115, TAP, Vdp |
| MMRRC Submission |
045726-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7648 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
92285797-92350657 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 92341861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031355]
[ENSMUST00000031355]
[ENSMUST00000201642]
[ENSMUST00000202155]
[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 |
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 |
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 |
|
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (53/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
C |
7: 41,261,886 (GRCm39) |
V46A |
possibly damaging |
Het |
| Asb13 |
C |
A |
13: 3,699,332 (GRCm39) |
N177K |
probably damaging |
Het |
| Asprv1 |
A |
G |
6: 86,605,852 (GRCm39) |
T233A |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 5,077,182 (GRCm39) |
|
probably null |
Het |
| Atxn2 |
G |
T |
5: 121,934,440 (GRCm39) |
V880F |
probably damaging |
Het |
| Car14 |
T |
C |
3: 95,805,507 (GRCm39) |
N322S |
probably benign |
Het |
| Cdc42bpb |
T |
C |
12: 111,343,587 (GRCm39) |
E40G |
probably damaging |
Het |
| Ceacam16 |
G |
T |
7: 19,586,203 (GRCm39) |
A103E |
unknown |
Het |
| Cnnm2 |
A |
G |
19: 46,866,339 (GRCm39) |
D829G |
probably damaging |
Het |
| Cpt1b |
C |
T |
15: 89,305,570 (GRCm39) |
A382T |
probably damaging |
Het |
| Crygc |
A |
G |
1: 65,112,484 (GRCm39) |
F30S |
probably damaging |
Het |
| Cstf2t |
A |
G |
19: 31,060,992 (GRCm39) |
Q176R |
possibly damaging |
Het |
| Ctif |
A |
T |
18: 75,770,213 (GRCm39) |
H57Q |
probably benign |
Het |
| Cyp2c40 |
A |
G |
19: 39,792,289 (GRCm39) |
*195Q |
probably null |
Het |
| Cyp2j8 |
T |
A |
4: 96,387,840 (GRCm39) |
D207V |
probably damaging |
Het |
| Ddx49 |
A |
G |
8: 70,750,605 (GRCm39) |
V123A |
possibly damaging |
Het |
| E4f1 |
A |
T |
17: 24,664,422 (GRCm39) |
I456K |
probably benign |
Het |
| Eif4b |
T |
C |
15: 101,997,435 (GRCm39) |
S317P |
unknown |
Het |
| Enam |
A |
T |
5: 88,652,016 (GRCm39) |
Q1175L |
possibly damaging |
Het |
| Eppk1 |
T |
C |
15: 75,994,871 (GRCm39) |
Y670C |
probably benign |
Het |
| Fam163b |
G |
T |
2: 27,002,752 (GRCm39) |
Q82K |
probably benign |
Het |
| Fam193a |
A |
T |
5: 34,588,526 (GRCm39) |
K358N |
probably damaging |
Het |
| Gls |
C |
A |
1: 52,235,939 (GRCm39) |
R392L |
probably damaging |
Het |
| Gramd1c |
A |
G |
16: 43,810,232 (GRCm39) |
V247A |
probably damaging |
Het |
| Gucy1a1 |
C |
T |
3: 82,016,014 (GRCm39) |
E325K |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,392,434 (GRCm39) |
C233R |
possibly damaging |
Het |
| Ice1 |
A |
G |
13: 70,737,916 (GRCm39) |
V2177A |
possibly damaging |
Het |
| Kif28 |
A |
G |
1: 179,536,989 (GRCm39) |
V498A |
possibly damaging |
Het |
| Klhdc7a |
T |
C |
4: 139,693,250 (GRCm39) |
S566G |
possibly damaging |
Het |
| Mlph |
G |
A |
1: 90,861,248 (GRCm39) |
|
probably null |
Het |
| Mndal |
T |
A |
1: 173,684,961 (GRCm39) |
Y536F |
probably benign |
Het |
| Mrgpra2a |
A |
T |
7: 47,076,411 (GRCm39) |
C282* |
probably null |
Het |
| Msantd5 |
G |
A |
11: 51,125,613 (GRCm39) |
E179K |
possibly damaging |
Het |
| Msh3 |
A |
T |
13: 92,410,536 (GRCm39) |
I684N |
probably damaging |
Het |
| Mylk |
G |
C |
16: 34,699,894 (GRCm39) |
S419T |
probably benign |
Het |
| Nfxl1 |
T |
C |
5: 72,680,879 (GRCm39) |
K747R |
probably benign |
Het |
| Nup98 |
T |
G |
7: 101,773,404 (GRCm39) |
H1641P |
possibly damaging |
Het |
| Or8b35 |
A |
C |
9: 37,903,856 (GRCm39) |
T18P |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,728,736 (GRCm39) |
N570D |
probably damaging |
Het |
| Plekhh1 |
T |
A |
12: 79,101,905 (GRCm39) |
V325E |
probably benign |
Het |
| Rabl3 |
A |
T |
16: 37,384,120 (GRCm39) |
I176F |
probably damaging |
Het |
| Relb |
T |
C |
7: 19,353,767 (GRCm39) |
E37G |
possibly damaging |
Het |
| Slc4a7 |
G |
A |
14: 14,773,348 (GRCm38) |
E773K |
probably benign |
Het |
| Tars2 |
G |
A |
3: 95,658,294 (GRCm39) |
T177I |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 35,997,563 (GRCm39) |
N842I |
probably damaging |
Het |
| Tmem175 |
A |
G |
5: 108,792,432 (GRCm39) |
E236G |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,220,753 (GRCm39) |
T2497A |
probably benign |
Het |
| Trf |
A |
G |
9: 103,105,168 (GRCm39) |
V48A |
probably benign |
Het |
| Ttc28 |
A |
G |
5: 111,331,258 (GRCm39) |
K493E |
possibly damaging |
Het |
| Unc50 |
T |
C |
1: 37,470,402 (GRCm39) |
S9P |
probably benign |
Het |
| Usp49 |
A |
T |
17: 47,985,753 (GRCm39) |
N487I |
possibly damaging |
Het |
| Xab2 |
T |
C |
8: 3,660,638 (GRCm39) |
D768G |
probably benign |
Het |
| Xcr1 |
T |
C |
9: 123,685,657 (GRCm39) |
E35G |
possibly 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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATACAGTTTAATCAGGAGCCTTG -3'
(R):5'- GATGATGAGAATTACTCTTGGTCAC -3'
Sequencing Primer
(F):5'- TCAGGAGCCTTGAACCAATCTG -3'
(R):5'- CTAGCTGGCCTTGTAAGA -3'
|
| Posted On |
2020-03-19 |
Incidental Mutation