Incidental Mutation 'IGL02311:Uso1'
ID 287806
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uso1
Ensembl Gene ENSMUSG00000029407
Gene Name USO1 vesicle docking factor
Synonyms transcytosis associated protein p115, TAP, Vdp
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02311
Quality Score
Status
Chromosome 5
Chromosomal Location 92285797-92350657 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92335635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 548 (S548T)
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: S548T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031355
Gene: ENSMUSG00000029407
AA Change: S548T

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 unknown
Transcript: ENSMUST00000201642
AA Change: F66L
SMART Domains Protein: ENSMUSP00000144165
Gene: ENSMUSG00000029407
AA Change: F66L

DomainStartEndE-ValueType
PDB:3GRL|A 1 52 5e-24 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000202155
AA Change: S548T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000144592
Gene: ENSMUSG00000029407
AA Change: S548T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202399
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik C A 5: 25,202,705 (GRCm39) probably benign Het
Adam21 T G 12: 81,607,666 (GRCm39) D32A probably benign Het
Asns A G 6: 7,676,233 (GRCm39) probably null Het
Bin3 A T 14: 70,361,666 (GRCm39) M45L probably benign Het
Cfap44 A T 16: 44,225,134 (GRCm39) probably benign Het
Cmya5 T C 13: 93,227,163 (GRCm39) T2642A probably benign Het
Dbndd2 T C 2: 164,330,622 (GRCm39) S92P possibly damaging Het
Dclre1b A C 3: 103,715,409 (GRCm39) F30V probably damaging Het
Dock6 T C 9: 21,755,624 (GRCm39) D200G probably damaging Het
Epb41l4b C A 4: 57,076,456 (GRCm39) R335L probably damaging Het
Fscn1 T C 5: 142,957,765 (GRCm39) V304A probably benign Het
Gm7008 G A 12: 40,273,385 (GRCm39) probably benign Het
Gm8237 A G 14: 5,864,425 (GRCm38) probably null Het
Ifih1 T C 2: 62,440,847 (GRCm39) T440A probably damaging Het
Mepe C T 5: 104,485,571 (GRCm39) S237F probably damaging Het
Nr4a2 T C 2: 57,001,743 (GRCm39) I174V probably benign Het
Or2ag2 A G 7: 106,485,101 (GRCm39) Y308H probably benign Het
Or8c11 C T 9: 38,289,194 (GRCm39) Q6* probably null Het
Orc1 G T 4: 108,457,171 (GRCm39) V404L probably benign Het
Pcsk5 G T 19: 17,410,784 (GRCm39) Y1869* probably null Het
Phf21b A G 15: 84,678,095 (GRCm39) probably null Het
Pigg A G 5: 108,484,246 (GRCm39) T631A probably benign Het
Plxnb1 A G 9: 108,930,190 (GRCm39) N349D probably benign Het
Scaf11 T C 15: 96,316,637 (GRCm39) S976G probably benign Het
Scn8a G T 15: 100,911,164 (GRCm39) M861I probably damaging Het
Stau1 T C 2: 166,792,239 (GRCm39) N433S probably damaging Het
Synrg A G 11: 83,910,630 (GRCm39) K854R probably benign Het
Tbata T A 10: 61,015,234 (GRCm39) C150* probably null Het
Tcn2 G A 11: 3,867,692 (GRCm39) P417S probably damaging Het
Tlr1 A T 5: 65,083,290 (GRCm39) L429* probably null Het
Tpr G T 1: 150,274,404 (GRCm39) D104Y probably damaging Het
Ubash3b T C 9: 40,958,333 (GRCm39) T16A probably benign Het
Vps13b T A 15: 35,709,660 (GRCm39) V1869E probably benign Het
Vps18 T C 2: 119,120,732 (GRCm39) C64R probably benign Het
Zic2 C A 14: 122,713,606 (GRCm39) N173K probably damaging Het
Other mutations in Uso1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16