Incidental Mutation 'IGL01522:Uso1'
ID 89438
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uso1
Ensembl Gene ENSMUSG00000029407
Gene Name USO1 vesicle docking factor
Synonyms Vdp, TAP, transcytosis associated protein p115
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01522
Quality Score
Status
Chromosome 5
Chromosomal Location 92137938-92202798 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92181419 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 389 (F389L)
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: F389L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031355
Gene: ENSMUSG00000029407
AA Change: F389L

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
PDB:3GRL|A 1 52 5e-24 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000202155
AA Change: F389L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144592
Gene: ENSMUSG00000029407
AA Change: F389L

DomainStartEndE-ValueType
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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A G 11: 23,582,865 probably null Het
Adamts12 T C 15: 11,065,159 probably null Het
Adamts3 T C 5: 89,702,943 N579S probably benign Het
Akr1c19 A G 13: 4,239,099 probably benign Het
Ankrd39 T A 1: 36,542,061 H69L probably damaging Het
Apcdd1 T A 18: 62,952,115 M461K possibly damaging Het
Bpifa3 G A 2: 154,137,582 C209Y probably damaging Het
Cep131 T C 11: 120,067,163 E779G probably benign Het
Cep85 T C 4: 134,152,255 Q394R probably damaging Het
Cep85 G T 4: 134,152,256 Q394K probably damaging Het
Clcn6 T C 4: 148,017,535 Y364C probably benign Het
Fetub G A 16: 22,929,641 M1I probably null Het
Greb1 T C 12: 16,701,201 I1003V probably damaging Het
Hsf3 A G X: 96,320,594 probably benign Het
Jcad A G 18: 4,673,312 N358S probably damaging Het
Kndc1 T C 7: 139,913,972 probably benign Het
Lama1 A T 17: 67,752,774 probably benign Het
Mark2 A G 19: 7,281,238 V50A probably benign Het
Mmp7 T C 9: 7,692,228 W35R probably damaging Het
Ndc80 A G 17: 71,499,325 V578A probably benign Het
Nfyc T C 4: 120,781,524 E42G probably damaging Het
Olfr1164 T C 2: 88,093,016 K307E possibly damaging Het
Olfr1504 A T 19: 13,887,358 L284* probably null Het
Olfr344 A G 2: 36,569,221 T208A probably benign Het
Olfr547 A T 7: 102,535,184 I146F probably damaging Het
Olfr935 A T 9: 38,995,100 C112S probably benign Het
Pcdha11 T C 18: 37,185,008 F925L probably damaging Het
Pdcd1 T G 1: 94,040,846 R154S probably benign Het
Pepd T A 7: 34,924,440 D87E probably benign Het
Pfn4 A G 12: 4,770,240 T30A probably benign Het
Pgpep1l A G 7: 68,237,708 M48T possibly damaging Het
Pla2g15 A G 8: 106,163,116 N340S probably benign Het
Plcb4 A G 2: 136,002,627 D155G probably damaging Het
Plg G A 17: 12,404,069 G499S probably damaging Het
Plin3 C T 17: 56,280,799 W305* probably null Het
Polq C A 16: 37,027,903 L291I probably damaging Het
Sdf2l1 T A 16: 17,132,150 H54L probably damaging Het
Slc38a2 C T 15: 96,693,055 D276N possibly damaging Het
Syk A G 13: 52,643,061 T576A probably benign Het
Tas2r119 G A 15: 32,178,193 V302I probably benign Het
Wwc2 T A 8: 47,868,633 Y482F unknown Het
Other mutations in Uso1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01753:Uso1 APN 5 92152918 critical splice donor site probably null
IGL02311:Uso1 APN 5 92187776 missense probably benign
IGL02539:Uso1 APN 5 92187773 missense probably damaging 1.00
IGL02716:Uso1 APN 5 92173935 missense probably damaging 0.99
IGL03154:Uso1 APN 5 92180618 nonsense probably null
R0558:Uso1 UTSW 5 92174019 missense probably benign 0.03
R0570:Uso1 UTSW 5 92199823 missense probably benign 0.19
R1195:Uso1 UTSW 5 92170747 missense probably damaging 1.00
R1195:Uso1 UTSW 5 92170747 missense probably damaging 1.00
R1195:Uso1 UTSW 5 92170747 missense probably damaging 1.00
R1398:Uso1 UTSW 5 92181468 missense probably benign 0.16
R1485:Uso1 UTSW 5 92180563 missense possibly damaging 0.76
R1813:Uso1 UTSW 5 92201133 critical splice acceptor site probably null
R1873:Uso1 UTSW 5 92192859 splice site probably benign
R1896:Uso1 UTSW 5 92201133 critical splice acceptor site probably null
R1899:Uso1 UTSW 5 92201192 missense probably benign 0.27
R2049:Uso1 UTSW 5 92181936 missense probably damaging 1.00
R2128:Uso1 UTSW 5 92195370 missense probably benign
R2411:Uso1 UTSW 5 92158399 splice site probably benign
R2903:Uso1 UTSW 5 92195435 critical splice donor site probably null
R5055:Uso1 UTSW 5 92192735 missense probably benign 0.31
R5155:Uso1 UTSW 5 92167335 critical splice donor site probably null
R5590:Uso1 UTSW 5 92180608 missense probably benign 0.05
R5665:Uso1 UTSW 5 92198337 missense possibly damaging 0.95
R5677:Uso1 UTSW 5 92201299 missense probably damaging 1.00
R5996:Uso1 UTSW 5 92192730 missense probably benign 0.00
R6165:Uso1 UTSW 5 92187267 missense probably damaging 1.00
R6340:Uso1 UTSW 5 92199852 missense probably benign 0.01
R6701:Uso1 UTSW 5 92166585 missense probably damaging 1.00
R6860:Uso1 UTSW 5 92195348 missense probably benign 0.11
R7062:Uso1 UTSW 5 92192740 missense possibly damaging 0.62
R7133:Uso1 UTSW 5 92158465 missense probably benign 0.12
R7317:Uso1 UTSW 5 92173992 missense possibly damaging 0.70
R7527:Uso1 UTSW 5 92199875 missense possibly damaging 0.58
R7648:Uso1 UTSW 5 92194002 splice site probably null
R7707:Uso1 UTSW 5 92201936 makesense probably null
R8009:Uso1 UTSW 5 92166580 missense probably benign 0.03
R8104:Uso1 UTSW 5 92158421 missense probably damaging 0.99
R8361:Uso1 UTSW 5 92189262 missense probably null 0.00
R8519:Uso1 UTSW 5 92195363 missense probably benign
R9052:Uso1 UTSW 5 92180563 missense probably damaging 1.00
R9142:Uso1 UTSW 5 92187266 nonsense probably null
R9221:Uso1 UTSW 5 92187314 missense probably benign 0.38
Z1177:Uso1 UTSW 5 92138130 missense possibly damaging 0.92
Posted On 2013-12-03