Incidental Mutation 'R6165:Uso1'
| ID |
490085 |
| 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 |
044311-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6165 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
92285797-92350657 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 92335126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 495
(L495F)
|
| 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: L495F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031355
Gene: ENSMUSG00000029407
AA Change: L495F
| 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: L495F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144592
Gene: ENSMUSG00000029407
AA Change: L495F
| 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
|
| Meta Mutation Damage Score |
0.2681 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.1%
|
| Validation Efficiency |
98% (47/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd35 |
A |
G |
3: 96,590,623 (GRCm39) |
E303G |
possibly damaging |
Het |
| Atosa |
A |
G |
9: 74,932,954 (GRCm39) |
T974A |
probably damaging |
Het |
| C2cd5 |
T |
C |
6: 142,995,954 (GRCm39) |
T389A |
possibly damaging |
Het |
| Catsperb |
T |
A |
12: 101,542,075 (GRCm39) |
Y592N |
possibly damaging |
Het |
| Cfap91 |
A |
G |
16: 38,154,173 (GRCm39) |
F124S |
possibly damaging |
Het |
| Cnot9 |
T |
C |
1: 74,567,952 (GRCm39) |
V280A |
probably benign |
Het |
| Cyld |
A |
G |
8: 89,473,561 (GRCm39) |
I927V |
possibly damaging |
Het |
| Etfdh |
A |
T |
3: 79,512,251 (GRCm39) |
S490T |
probably benign |
Het |
| Fance |
C |
T |
17: 28,545,068 (GRCm39) |
R150C |
probably benign |
Het |
| Far1 |
A |
G |
7: 113,153,425 (GRCm39) |
K353E |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,174,283 (GRCm39) |
I1858V |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,874,492 (GRCm39) |
K1359E |
probably benign |
Het |
| Ghdc |
T |
G |
11: 100,659,928 (GRCm39) |
E273A |
possibly damaging |
Het |
| Gpt |
A |
G |
15: 76,582,170 (GRCm39) |
D209G |
probably benign |
Het |
| Hspb7 |
T |
C |
4: 141,149,862 (GRCm39) |
F83L |
probably benign |
Het |
| Itga7 |
A |
G |
10: 128,778,804 (GRCm39) |
I306M |
probably benign |
Het |
| Itgb5 |
A |
G |
16: 33,719,612 (GRCm39) |
E261G |
probably benign |
Het |
| Kcnj14 |
G |
T |
7: 45,469,424 (GRCm39) |
A27E |
possibly damaging |
Het |
| Kif13b |
A |
G |
14: 64,979,760 (GRCm39) |
H470R |
probably damaging |
Het |
| Macroh2a1 |
A |
T |
13: 56,252,268 (GRCm39) |
N108K |
probably damaging |
Het |
| Morc3 |
T |
C |
16: 93,638,271 (GRCm39) |
F18L |
probably damaging |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,565 (GRCm39) |
C79S |
possibly damaging |
Het |
| Mroh2b |
T |
A |
15: 4,947,832 (GRCm39) |
M549K |
probably benign |
Het |
| Msl1 |
T |
C |
11: 98,695,673 (GRCm39) |
V563A |
probably damaging |
Het |
| Nwd1 |
C |
T |
8: 73,388,814 (GRCm39) |
R81W |
probably damaging |
Het |
| Or5b124 |
A |
T |
19: 13,610,507 (GRCm39) |
I11F |
possibly damaging |
Het |
| Or5b124 |
C |
T |
19: 13,610,952 (GRCm39) |
A159V |
probably benign |
Het |
| Phf2 |
C |
A |
13: 48,967,341 (GRCm39) |
|
probably null |
Het |
| Pjvk |
T |
G |
2: 76,480,562 (GRCm39) |
|
probably null |
Het |
| Rgl2 |
A |
G |
17: 34,150,739 (GRCm39) |
T66A |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rtkn |
G |
T |
6: 83,122,944 (GRCm39) |
E67D |
probably damaging |
Het |
| Serpinb9 |
T |
A |
13: 33,192,807 (GRCm39) |
F121L |
possibly damaging |
Het |
| Slc34a1 |
G |
A |
13: 23,999,053 (GRCm39) |
V149I |
probably benign |
Het |
| Sobp |
A |
G |
10: 42,898,599 (GRCm39) |
S329P |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,375,678 (GRCm39) |
L138Q |
probably damaging |
Het |
| Tfr2 |
T |
A |
5: 137,578,519 (GRCm39) |
V449D |
probably damaging |
Het |
| Tmem151b |
T |
C |
17: 45,856,711 (GRCm39) |
Y243C |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,940 (GRCm39) |
V2559A |
probably benign |
Het |
| Trim35 |
T |
C |
14: 66,546,654 (GRCm39) |
Y474H |
probably damaging |
Het |
| Wdr24 |
A |
G |
17: 26,045,395 (GRCm39) |
I377V |
probably benign |
Het |
| Xpo5 |
T |
A |
17: 46,546,883 (GRCm39) |
V878D |
possibly damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,256,574 (GRCm39) |
I1515V |
probably benign |
Het |
| Zfp319 |
CA |
C |
8: 96,054,733 (GRCm39) |
489 |
probably null |
Het |
| Zfp384 |
T |
G |
6: 125,001,896 (GRCm39) |
|
probably null |
Het |
| Zfp704 |
G |
T |
3: 9,508,946 (GRCm39) |
P416T |
probably benign |
Het |
| Zfr |
C |
T |
15: 12,146,331 (GRCm39) |
A294V |
unknown |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGTCTGACTTCTGCACTGG -3'
(R):5'- TGTCCTGTAAGCTGACATCTTTG -3'
Sequencing Primer
(F):5'- CGCAGCCTGTTGCAAAC -3'
(R):5'- CCTGTAAGCTGACATCTTTGTTAAGG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation