Incidental Mutation 'R1485:Uso1'
ID 163389
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 039538-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1485 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 92285797-92350657 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 92328422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 340 (V340I)
Ref Sequence ENSEMBL: ENSMUSP00000144592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031355] [ENSMUST00000201642] [ENSMUST00000202155]
AlphaFold Q9Z1Z0
Predicted Effect possibly damaging
Transcript: ENSMUST00000031355
AA Change: V340I

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031355
Gene: ENSMUSG00000029407
AA Change: V340I

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 possibly damaging
Transcript: ENSMUST00000202155
AA Change: V340I

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144592
Gene: ENSMUSG00000029407
AA Change: V340I

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
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.5%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,727,738 (GRCm39) S301P probably damaging Het
AI987944 C A 7: 41,023,954 (GRCm39) G342* probably null Het
Alox5 A T 6: 116,401,125 (GRCm39) F212I probably damaging Het
Apaf1 A T 10: 90,896,105 (GRCm39) D322E probably benign Het
Aste1 T A 9: 105,275,009 (GRCm39) Y355* probably null Het
Bloc1s6 T G 2: 122,588,063 (GRCm39) probably null Het
Bltp2 A G 11: 78,176,406 (GRCm39) Y1836C probably damaging Het
Castor2 T A 5: 134,165,972 (GRCm39) L240Q probably damaging Het
Ccdc77 G A 6: 120,315,101 (GRCm39) Q183* probably null Het
Ccdc92 T C 5: 124,913,335 (GRCm39) T65A probably benign Het
Chrna2 C T 14: 66,380,812 (GRCm39) A27V probably benign Het
Coch G T 12: 51,645,072 (GRCm39) V209F probably damaging Het
Cops3 G A 11: 59,718,715 (GRCm39) T193M possibly damaging Het
Cped1 T C 6: 22,132,387 (GRCm39) probably null Het
D6Ertd527e A T 6: 87,088,067 (GRCm39) S77C unknown Het
Defb7 A G 8: 19,545,110 (GRCm39) probably null Het
Dnaaf9 A G 2: 130,590,603 (GRCm39) probably null Het
Entpd6 T A 2: 150,610,843 (GRCm39) probably null Het
Evc2 C T 5: 37,527,900 (GRCm39) A303V probably benign Het
Fhod1 T C 8: 106,063,430 (GRCm39) probably null Het
Gcn1 T A 5: 115,712,676 (GRCm39) F54I probably benign Het
Gm7104 C A 12: 88,252,333 (GRCm39) noncoding transcript Het
Grid1 A T 14: 34,544,540 (GRCm39) D37V probably damaging Het
Icam5 G A 9: 20,947,702 (GRCm39) A560T probably benign Het
Igf2r A C 17: 12,910,172 (GRCm39) I2019S probably damaging Het
Kcnj9 A G 1: 172,153,929 (GRCm39) V65A probably benign Het
Kif3b T C 2: 153,164,851 (GRCm39) probably null Het
Kmt2a T G 9: 44,738,225 (GRCm39) probably benign Het
Marchf6 T A 15: 31,498,839 (GRCm39) T153S probably damaging Het
Mcam T A 9: 44,048,060 (GRCm39) I72N probably damaging Het
Ncoa4-ps A G 12: 119,224,785 (GRCm39) noncoding transcript Het
Nkain3 T C 4: 20,484,932 (GRCm39) I48M probably damaging Het
Nop58 T A 1: 59,737,504 (GRCm39) I107N probably damaging Het
Notch2 A G 3: 98,007,573 (GRCm39) H441R probably benign Het
Nr1d1 G A 11: 98,661,187 (GRCm39) R360C probably benign Het
Or56a5 A G 7: 104,792,888 (GRCm39) I210T probably benign Het
Pclo T C 5: 14,763,793 (GRCm39) S4089P unknown Het
Pi4kb A G 3: 94,901,698 (GRCm39) E455G probably damaging Het
Piezo1 T C 8: 123,208,788 (GRCm39) Y2525C probably damaging Het
Pik3c2a A G 7: 116,016,908 (GRCm39) V283A possibly damaging Het
Pramel12 G A 4: 143,144,188 (GRCm39) R178Q probably benign Het
Rabgap1l A T 1: 160,561,250 (GRCm39) V161E probably benign Het
Rasa2 A G 9: 96,426,401 (GRCm39) I815T probably benign Het
Rev1 A T 1: 38,127,653 (GRCm39) D202E probably benign Het
Septin14 C T 5: 129,770,118 (GRCm39) A193T probably damaging Het
Sh3tc1 T C 5: 35,876,370 (GRCm39) S112G probably benign Het
Siah3 T A 14: 75,762,994 (GRCm39) Y82N probably benign Het
Slc2a7 T C 4: 150,250,853 (GRCm39) S425P probably damaging Het
Slc9a2 C T 1: 40,765,548 (GRCm39) L313F probably damaging Het
Smdt1 T C 15: 82,230,433 (GRCm39) V50A probably benign Het
Spata31e2 T G 1: 26,724,961 (GRCm39) K73T possibly damaging Het
Supt3 G A 17: 45,347,607 (GRCm39) A197T probably benign Het
Tex10 A G 4: 48,436,492 (GRCm39) I742T possibly damaging Het
Tex44 T A 1: 86,355,640 (GRCm39) H516Q possibly damaging Het
Tfdp1 T G 8: 13,420,917 (GRCm39) D171E probably damaging Het
Trim31 A C 17: 37,209,568 (GRCm39) D108A probably damaging Het
Ubr1 T C 2: 120,791,579 (GRCm39) N135S probably benign Het
Utp6 A C 11: 79,839,749 (GRCm39) V313G probably damaging Het
Vmn2r107 T C 17: 20,595,109 (GRCm39) V554A possibly damaging Het
Xdh C A 17: 74,221,014 (GRCm39) E572* probably null Het
Zbtb7c T C 18: 76,270,061 (GRCm39) S50P probably damaging Het
Zfp672 A G 11: 58,220,395 (GRCm39) probably benign Het
Zzef1 A G 11: 72,791,635 (GRCm39) probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- TCTCTGCTGTTCTCAAATCTCTGAAGC -3'
(R):5'- ACCATTTCCTAGCACACACTGGTCTT -3'

Sequencing Primer
(F):5'- agcacttgggaggaggac -3'
(R):5'- tggagagatggctcagagg -3'
Posted On 2014-03-28