Incidental Mutation 'R5996:Uso1'
ID |
481117 |
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 |
044175-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5996 (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 92340589 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 668
(E668D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144592
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031355]
[ENSMUST00000201642]
[ENSMUST00000202155]
|
AlphaFold |
Q9Z1Z0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031355
AA Change: E668D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000031355 Gene: ENSMUSG00000029407 AA Change: E668D
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: ENSMUST00000122796
|
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 benign
Transcript: ENSMUST00000202155
AA Change: E668D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000144592 Gene: ENSMUSG00000029407 AA Change: E668D
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 |
0.0744 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
Validation Efficiency |
97% (69/71) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
A |
G |
11: 23,468,928 (GRCm39) |
M1T |
probably null |
Het |
A2m |
T |
A |
6: 121,636,353 (GRCm39) |
W741R |
probably damaging |
Het |
Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
Acan |
A |
G |
7: 78,761,068 (GRCm39) |
T1927A |
probably damaging |
Het |
Agbl4 |
A |
G |
4: 110,812,869 (GRCm39) |
|
probably null |
Het |
Bltp1 |
T |
C |
3: 36,985,265 (GRCm39) |
F865S |
probably benign |
Het |
Ccr8 |
T |
A |
9: 119,923,529 (GRCm39) |
C215S |
probably damaging |
Het |
Cd209b |
T |
C |
8: 3,968,688 (GRCm39) |
T314A |
probably benign |
Het |
Cd244a |
T |
G |
1: 171,409,208 (GRCm39) |
|
probably null |
Het |
Cdh23 |
T |
C |
10: 60,249,356 (GRCm39) |
E849G |
possibly damaging |
Het |
Cep57 |
A |
G |
9: 13,721,175 (GRCm39) |
V268A |
probably damaging |
Het |
Clip4 |
T |
C |
17: 72,163,305 (GRCm39) |
S626P |
probably damaging |
Het |
Col19a1 |
C |
T |
1: 24,367,152 (GRCm39) |
G477R |
probably damaging |
Het |
Col4a4 |
T |
C |
1: 82,433,449 (GRCm39) |
D1498G |
unknown |
Het |
Coro6 |
T |
C |
11: 77,357,322 (GRCm39) |
V177A |
probably benign |
Het |
Crip3 |
T |
C |
17: 46,742,210 (GRCm39) |
S202P |
possibly damaging |
Het |
Cxcr2 |
T |
C |
1: 74,197,619 (GRCm39) |
C38R |
probably damaging |
Het |
Cyp4f13 |
C |
T |
17: 33,148,447 (GRCm39) |
G327R |
possibly damaging |
Het |
Dab2 |
C |
T |
15: 6,464,792 (GRCm39) |
Q415* |
probably null |
Het |
Dennd5b |
A |
G |
6: 148,969,593 (GRCm39) |
F287L |
probably benign |
Het |
Dlg4 |
G |
A |
11: 69,908,057 (GRCm39) |
R6K |
probably benign |
Het |
Edc4 |
A |
G |
8: 106,614,033 (GRCm39) |
K429E |
probably damaging |
Het |
Fam107b |
T |
A |
2: 3,780,667 (GRCm39) |
|
probably null |
Het |
Flt4 |
A |
T |
11: 49,541,897 (GRCm39) |
D1360V |
probably damaging |
Het |
Gm1043 |
A |
T |
5: 37,317,168 (GRCm39) |
|
probably benign |
Het |
Gm4894 |
A |
T |
9: 49,189,970 (GRCm39) |
I82L |
unknown |
Het |
Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
Gpr176 |
A |
C |
2: 118,114,385 (GRCm39) |
|
probably null |
Het |
Gtse1 |
T |
C |
15: 85,748,381 (GRCm39) |
L262P |
probably benign |
Het |
Il4ra |
T |
C |
7: 125,166,393 (GRCm39) |
W46R |
probably damaging |
Het |
Itga11 |
A |
G |
9: 62,662,955 (GRCm39) |
Y557C |
probably benign |
Het |
Kcnab2 |
A |
C |
4: 152,519,287 (GRCm39) |
|
probably null |
Het |
Kcnh7 |
G |
A |
2: 63,014,441 (GRCm39) |
|
probably benign |
Het |
Ly9 |
T |
A |
1: 171,429,396 (GRCm39) |
Q230L |
probably damaging |
Het |
Map2 |
C |
A |
1: 66,454,043 (GRCm39) |
H978N |
possibly damaging |
Het |
Map2k6 |
A |
G |
11: 110,388,732 (GRCm39) |
I225V |
possibly damaging |
Het |
Map3k13 |
A |
G |
16: 21,723,995 (GRCm39) |
N326D |
possibly damaging |
Het |
Mdga2 |
A |
G |
12: 66,844,537 (GRCm39) |
F85L |
probably benign |
Het |
Mmp13 |
C |
T |
9: 7,274,269 (GRCm39) |
P192L |
probably damaging |
Het |
Mrpl37 |
T |
C |
4: 106,923,704 (GRCm39) |
T97A |
probably benign |
Het |
Mycbpap |
C |
T |
11: 94,404,420 (GRCm39) |
G121D |
probably benign |
Het |
Nabp1 |
A |
G |
1: 51,510,544 (GRCm39) |
S153P |
probably benign |
Het |
Nsun3 |
A |
T |
16: 62,590,049 (GRCm39) |
F222I |
probably benign |
Het |
Or4q3 |
A |
G |
14: 50,582,969 (GRCm39) |
V310A |
possibly damaging |
Het |
Pcdhga4 |
A |
T |
18: 37,818,991 (GRCm39) |
D180V |
probably benign |
Het |
Pex6 |
C |
A |
17: 47,025,384 (GRCm39) |
|
probably null |
Het |
Phrf1 |
C |
A |
7: 140,839,015 (GRCm39) |
|
probably benign |
Het |
Ppp1r36 |
A |
G |
12: 76,485,936 (GRCm39) |
T365A |
possibly damaging |
Het |
Ranbp10 |
A |
G |
8: 106,499,672 (GRCm39) |
M519T |
probably benign |
Het |
Rfx4 |
G |
A |
10: 84,675,881 (GRCm39) |
W32* |
probably null |
Het |
Ryr1 |
T |
C |
7: 28,723,666 (GRCm39) |
N4131S |
probably benign |
Het |
Slc27a6 |
A |
G |
18: 58,745,306 (GRCm39) |
E580G |
possibly damaging |
Het |
Slc7a14 |
T |
C |
3: 31,263,385 (GRCm39) |
D719G |
probably benign |
Het |
Slfn9 |
A |
G |
11: 82,878,310 (GRCm39) |
I273T |
possibly damaging |
Het |
Spice1 |
A |
G |
16: 44,205,037 (GRCm39) |
E781G |
probably benign |
Het |
Sspo |
C |
T |
6: 48,471,110 (GRCm39) |
P4686S |
possibly damaging |
Het |
Stab1 |
G |
T |
14: 30,861,508 (GRCm39) |
R2500S |
probably benign |
Het |
Stox2 |
A |
T |
8: 47,656,182 (GRCm39) |
M98K |
possibly damaging |
Het |
Tacc2 |
T |
C |
7: 130,225,213 (GRCm39) |
S633P |
probably damaging |
Het |
Tex51 |
G |
T |
18: 32,595,545 (GRCm39) |
|
probably benign |
Het |
Tm9sf4 |
T |
C |
2: 153,037,491 (GRCm39) |
|
probably null |
Het |
Togaram2 |
T |
A |
17: 72,011,778 (GRCm39) |
F486I |
probably damaging |
Het |
Trappc12 |
A |
G |
12: 28,797,113 (GRCm39) |
S140P |
possibly damaging |
Het |
Ttc29 |
A |
T |
8: 79,003,525 (GRCm39) |
N247I |
probably damaging |
Het |
Vmn2r69 |
A |
T |
7: 85,061,117 (GRCm39) |
|
probably null |
Het |
Xirp2 |
T |
A |
2: 67,341,994 (GRCm39) |
L1412I |
possibly damaging |
Het |
Xrcc5 |
T |
A |
1: 72,349,617 (GRCm39) |
D15E |
probably damaging |
Het |
Zfp661 |
T |
C |
2: 127,418,968 (GRCm39) |
K391E |
probably damaging |
Het |
Zfp729b |
A |
G |
13: 67,741,977 (GRCm39) |
I106T |
probably benign |
Het |
Zfyve9 |
A |
C |
4: 108,576,557 (GRCm39) |
S175A |
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 |
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 |
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'- AGCTTCGCACACGTTCAAG -3'
(R):5'- GCCATCCTGCACTAAGTTCTAAC -3'
Sequencing Primer
(F):5'- GCACACGTTCAAGTCTTCATG -3'
(R):5'- ATTCCTCACAGTGATCACGGTTGAG -3'
|
Posted On |
2017-06-26 |