Incidental Mutation 'IGL02716:Uso1'
ID304783
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uso1
Ensembl Gene ENSMUSG00000029407
Gene NameUSO1 vesicle docking factor
SynonymsVdp, TAP, transcytosis associated protein p115
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02716
Quality Score
Status
Chromosome5
Chromosomal Location92137938-92202798 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 92173935 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 229 (V229A)
Ref Sequence ENSEMBL: ENSMUSP00000144592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031355] [ENSMUST00000201642] [ENSMUST00000202155]
Predicted Effect probably damaging
Transcript: ENSMUST00000031355
AA Change: V229A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031355
Gene: ENSMUSG00000029407
AA Change: V229A

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: V229A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144592
Gene: ENSMUSG00000029407
AA Change: V229A

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
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 T C 11: 54,327,276 S212P probably benign Het
Ago2 C T 15: 73,111,727 R711Q possibly damaging Het
Akp3 A C 1: 87,125,479 D91A probably damaging Het
Arhgap12 T A 18: 6,111,857 Q169L possibly damaging Het
Aspm A G 1: 139,479,687 Y2104C probably damaging Het
Baz2b G A 2: 59,962,524 S420L possibly damaging Het
Cenpo T C 12: 4,215,390 N210S possibly damaging Het
Chadl T C 15: 81,695,915 N40D probably damaging Het
Crebbp T C 16: 4,114,878 E586G probably benign Het
Cts7 T A 13: 61,356,608 Q47L probably benign Het
Cyp2c40 C A 19: 39,807,536 D133Y possibly damaging Het
Dnah3 A T 7: 119,937,023 M3679K probably damaging Het
Dym T C 18: 75,286,683 Y642H probably damaging Het
Efr3b T C 12: 3,984,627 D65G probably damaging Het
Elmo1 T A 13: 20,449,502 F445I probably damaging Het
Epdr1 C T 13: 19,594,570 V119M probably benign Het
Epha4 G T 1: 77,380,965 R799S probably damaging Het
Esyt3 A T 9: 99,317,224 V778E probably damaging Het
F10 A T 8: 13,048,177 K127* probably null Het
Fcgbp G A 7: 28,101,434 E1302K probably damaging Het
Fer1l4 A G 2: 156,029,715 F1382L probably damaging Het
Fhad1 T C 4: 141,918,331 I318V possibly damaging Het
Fscn2 A T 11: 120,366,724 T304S probably benign Het
Gab1 A T 8: 80,769,694 L659Q probably damaging Het
Gm4845 A C 1: 141,256,838 noncoding transcript Het
Gm572 A G 4: 148,654,870 M52V probably benign Het
Hmgcr T C 13: 96,660,012 probably null Het
Kcnk5 T C 14: 20,181,428 T9A probably damaging Het
Krt87 A C 15: 101,434,604 F243V possibly damaging Het
Mast1 G T 8: 84,935,723 P52Q probably damaging Het
Mcf2l A T 8: 12,997,277 Q211L probably benign Het
Mtus2 C A 5: 148,236,310 P968T probably benign Het
Mylk2 T C 2: 152,922,153 *614R probably null Het
Myo15b A T 11: 115,883,709 E2049V probably benign Het
Myo6 A T 9: 80,269,694 H581L probably damaging Het
Numb A T 12: 83,801,208 S241T possibly damaging Het
Olfr1265 G T 2: 90,037,794 V292L probably benign Het
Olfr1283 A T 2: 111,368,781 I50F probably benign Het
Olfr338 A G 2: 36,377,343 D189G possibly damaging Het
Phldb2 A G 16: 45,801,590 S676P probably damaging Het
Rttn G A 18: 89,048,417 E1196K possibly damaging Het
Skiv2l2 T G 13: 112,883,146 D810A probably benign Het
Slc13a3 G A 2: 165,406,715 P548S unknown Het
Slc2a7 A G 4: 150,160,010 probably benign Het
Slc37a1 T C 17: 31,328,161 S261P possibly damaging Het
Spryd3 T A 15: 102,133,461 Y42F possibly damaging Het
Srrm3 A G 5: 135,854,433 probably null Het
Stambp G A 6: 83,556,390 T297I probably damaging Het
Sypl T A 12: 32,967,669 Y129N probably damaging Het
Syt14 G A 1: 192,980,535 P368S possibly damaging Het
Tas2r122 T C 6: 132,711,264 D222G probably damaging Het
Tead2 C A 7: 45,232,296 Y79* probably null Het
Tmem251 A G 12: 102,744,829 T104A probably benign Het
Vmn1r238 A G 18: 3,123,124 S97P probably damaging Het
Vmn2r82 T A 10: 79,377,844 V88D probably benign Het
Vps29 A G 5: 122,362,066 T85A probably benign Het
Wdr90 T A 17: 25,857,220 S500C probably damaging Het
Zfp958 G A 8: 4,625,967 probably null Het
Other mutations in Uso1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01522:Uso1 APN 5 92181419 missense probably damaging 0.96
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
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
Z1177:Uso1 UTSW 5 92138130 missense possibly damaging 0.92
Posted On2015-04-16