Incidental Mutation 'R1896:Uso1'
| ID |
211971 |
| 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 |
039916-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1896 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
92285797-92350657 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 92348992 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000202362
|
| Meta Mutation Damage Score |
0.9588 |
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 94.9%
- 20x: 91.4%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abo |
C |
A |
2: 26,733,609 (GRCm39) |
D199Y |
probably damaging |
Het |
| Acvr1c |
A |
C |
2: 58,170,306 (GRCm39) |
V277G |
probably damaging |
Het |
| Adam23 |
G |
A |
1: 63,584,731 (GRCm39) |
A380T |
probably benign |
Het |
| Art2b |
A |
G |
7: 101,229,236 (GRCm39) |
V221A |
probably benign |
Het |
| Bcam |
A |
G |
7: 19,500,640 (GRCm39) |
S153P |
probably damaging |
Het |
| Bltp1 |
C |
T |
3: 36,962,380 (GRCm39) |
Q494* |
probably null |
Het |
| C1qtnf1 |
G |
T |
11: 118,334,583 (GRCm39) |
G21V |
probably damaging |
Het |
| Car13 |
T |
C |
3: 14,710,235 (GRCm39) |
I59T |
probably benign |
Het |
| Cep97 |
T |
C |
16: 55,748,107 (GRCm39) |
N108D |
probably damaging |
Het |
| Cog3 |
T |
A |
14: 75,979,784 (GRCm39) |
E182D |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,611,514 (GRCm39) |
K452R |
probably benign |
Het |
| Endou |
A |
G |
15: 97,610,873 (GRCm39) |
Y404H |
probably damaging |
Het |
| F12 |
T |
C |
13: 55,568,540 (GRCm39) |
Y373C |
probably damaging |
Het |
| Fam221b |
T |
C |
4: 43,660,375 (GRCm39) |
T405A |
probably damaging |
Het |
| Fetub |
A |
G |
16: 22,751,045 (GRCm39) |
R131G |
probably damaging |
Het |
| Foxp2 |
A |
T |
6: 15,379,767 (GRCm39) |
|
probably benign |
Het |
| Ggt5 |
T |
C |
10: 75,440,560 (GRCm39) |
V227A |
probably damaging |
Het |
| Gipr |
A |
G |
7: 18,897,996 (GRCm39) |
S79P |
probably benign |
Het |
| Gphn |
A |
G |
12: 78,459,128 (GRCm39) |
D72G |
possibly damaging |
Het |
| Gzmk |
A |
G |
13: 113,309,427 (GRCm39) |
S208P |
probably damaging |
Het |
| Itpkc |
T |
C |
7: 26,907,805 (GRCm39) |
D633G |
probably damaging |
Het |
| Jarid2 |
T |
C |
13: 45,038,358 (GRCm39) |
|
probably null |
Het |
| Kif21b |
C |
A |
1: 136,075,583 (GRCm39) |
R237S |
possibly damaging |
Het |
| Lama1 |
G |
A |
17: 68,098,218 (GRCm39) |
R1805H |
probably benign |
Het |
| Lpin3 |
C |
T |
2: 160,747,218 (GRCm39) |
P815S |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,395,867 (GRCm39) |
I2468F |
possibly damaging |
Het |
| Nav1 |
T |
C |
1: 135,388,475 (GRCm39) |
N1118S |
probably benign |
Het |
| Ncoa3 |
T |
A |
2: 165,890,384 (GRCm39) |
I90N |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,362,402 (GRCm39) |
T1408A |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,962,753 (GRCm39) |
D779G |
probably benign |
Het |
| Obox6 |
A |
T |
7: 15,568,770 (GRCm39) |
H35Q |
possibly damaging |
Het |
| Pkd1l3 |
C |
A |
8: 110,350,831 (GRCm39) |
P559T |
possibly damaging |
Het |
| Pou2af2 |
A |
G |
9: 51,203,098 (GRCm39) |
S19P |
probably damaging |
Het |
| Pramel23 |
C |
G |
4: 143,424,714 (GRCm39) |
G243A |
probably benign |
Het |
| Prex1 |
T |
A |
2: 166,428,574 (GRCm39) |
I716F |
probably benign |
Het |
| Psap |
C |
T |
10: 60,130,826 (GRCm39) |
Q219* |
probably null |
Het |
| Rab5if |
C |
T |
2: 156,707,252 (GRCm39) |
P64S |
probably damaging |
Het |
| Shisa5 |
T |
A |
9: 108,885,108 (GRCm39) |
I126N |
probably damaging |
Het |
| Slc11a1 |
T |
C |
1: 74,414,931 (GRCm39) |
L21P |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,194,167 (GRCm39) |
T172A |
probably damaging |
Het |
| Sned1 |
C |
T |
1: 93,192,769 (GRCm39) |
P352L |
probably benign |
Het |
| Sox4 |
T |
C |
13: 29,136,127 (GRCm39) |
Y293C |
probably damaging |
Het |
| Srgap3 |
T |
A |
6: 112,715,958 (GRCm39) |
H654L |
probably benign |
Het |
| Stra6 |
A |
T |
9: 58,059,166 (GRCm39) |
M510L |
probably benign |
Het |
| Syna |
C |
A |
5: 134,588,006 (GRCm39) |
M314I |
probably benign |
Het |
| Taf5l |
A |
G |
8: 124,730,152 (GRCm39) |
L144P |
probably damaging |
Het |
| Tll2 |
A |
G |
19: 41,101,498 (GRCm39) |
F379L |
probably benign |
Het |
| Traf3ip3 |
A |
G |
1: 192,858,042 (GRCm39) |
V492A |
probably benign |
Het |
| Uba2 |
A |
G |
7: 33,850,455 (GRCm39) |
F364S |
probably damaging |
Het |
| Unc50 |
T |
A |
1: 37,476,323 (GRCm39) |
L161Q |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,282,206 (GRCm39) |
V1907A |
probably benign |
Het |
| Utf1 |
C |
A |
7: 139,524,213 (GRCm39) |
L143I |
probably damaging |
Het |
| Vmn1r158 |
C |
T |
7: 22,490,143 (GRCm39) |
C22Y |
probably damaging |
Het |
| Vmn1r36 |
T |
A |
6: 66,693,756 (GRCm39) |
M40L |
probably benign |
Het |
| Vmn2r43 |
A |
G |
7: 8,258,055 (GRCm39) |
V386A |
possibly damaging |
Het |
| Vps9d1 |
C |
A |
8: 123,973,778 (GRCm39) |
R335L |
probably damaging |
Het |
| Zbtb26 |
A |
G |
2: 37,326,347 (GRCm39) |
S230P |
possibly damaging |
Het |
| Zfp74 |
A |
T |
7: 29,634,569 (GRCm39) |
C380S |
probably damaging |
Het |
| Zfyve1 |
A |
C |
12: 83,602,388 (GRCm39) |
V469G |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGATGTGGGCAGATCAAG -3'
(R):5'- GGATGACCGAGATCCTTGAG -3'
Sequencing Primer
(F):5'- GATCAAGAAATGACTGCTCCAG -3'
(R):5'- GATGACCGAGATCCTTGAGTTTACTC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation