Incidental Mutation 'R5665:Uso1'
ID 501334
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 043308-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5665 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 92285797-92350657 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92346196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 793 (E793V)
Ref Sequence ENSEMBL: ENSMUSP00000031355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031355] [ENSMUST00000201642] [ENSMUST00000202155]
AlphaFold Q9Z1Z0
Predicted Effect possibly damaging
Transcript: ENSMUST00000031355
AA Change: E793V

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031355
Gene: ENSMUSG00000029407
AA Change: E793V

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: ENSMUST00000122796
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 benign
Transcript: ENSMUST00000202155
SMART Domains Protein: ENSMUSP00000144592
Gene: ENSMUSG00000029407

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Acaca G T 11: 84,136,120 (GRCm39) E492* probably null Het
Acp7 T A 7: 28,315,968 (GRCm39) K206M probably benign Het
Agbl1 T A 7: 76,239,251 (GRCm39) F584I probably damaging Het
Ahi1 A G 10: 20,930,946 (GRCm39) I929V possibly damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Arhgef40 A G 14: 52,238,357 (GRCm39) I1279V possibly damaging Het
Arl14 A C 3: 69,130,371 (GRCm39) T173P probably damaging Het
Asap1 A G 15: 64,184,302 (GRCm39) S44P probably damaging Het
Btbd7 C A 12: 102,751,456 (GRCm39) A1103S probably benign Het
Capn10 T A 1: 92,865,653 (GRCm39) probably null Het
Capn7 T C 14: 31,091,759 (GRCm39) F719L probably benign Het
Casp7 G A 19: 56,429,414 (GRCm39) D267N probably benign Het
Ccdc13 C A 9: 121,643,356 (GRCm39) K348N probably damaging Het
Chchd1 T C 14: 20,753,178 (GRCm39) F13L probably benign Het
Clcn6 T A 4: 148,099,018 (GRCm39) M442L possibly damaging Het
Col6a3 T C 1: 90,755,602 (GRCm39) E229G probably benign Het
Cyb5r3 A G 15: 83,038,755 (GRCm39) F278S probably damaging Het
Dhx16 C T 17: 36,201,978 (GRCm39) Q1002* probably null Het
Dppa4 T C 16: 48,111,378 (GRCm39) L121P probably benign Het
Dpyd A G 3: 118,710,741 (GRCm39) E383G probably damaging Het
Eif4g3 A G 4: 137,853,900 (GRCm39) T489A probably benign Het
Elovl1 G T 4: 118,288,832 (GRCm39) V174L probably damaging Het
Elp3 T C 14: 65,788,851 (GRCm39) K392E possibly damaging Het
Fancd2os C A 6: 113,574,985 (GRCm39) W7L probably damaging Het
Fchsd2 A G 7: 100,759,991 (GRCm39) T23A possibly damaging Het
Gabrp C G 11: 33,504,308 (GRCm39) A336P possibly damaging Het
Gcm2 T A 13: 41,263,387 (GRCm39) Y15F possibly damaging Het
Gpr132 G A 12: 112,816,416 (GRCm39) R137C probably damaging Het
Herc1 A G 9: 66,372,717 (GRCm39) E3091G probably damaging Het
Homer1 A T 13: 93,492,610 (GRCm39) M184L probably benign Het
Izumo1r T C 9: 14,812,145 (GRCm39) E117G probably damaging Het
Kcnt1 C T 2: 25,791,921 (GRCm39) Q590* probably null Het
Lama1 G T 17: 68,077,982 (GRCm39) C1139F probably damaging Het
Med29 C T 7: 28,086,239 (GRCm39) A190T probably benign Het
Muc4 T C 16: 32,569,600 (GRCm39) V220A probably benign Het
Mxra8 G T 4: 155,927,378 (GRCm39) V388L probably benign Het
Myo5a T C 9: 75,051,463 (GRCm39) probably null Het
Myrip A G 9: 120,290,499 (GRCm39) Y706C probably damaging Het
Nphp4 T C 4: 152,590,942 (GRCm39) V313A probably benign Het
Oga A C 19: 45,765,436 (GRCm39) S124A probably benign Het
Olfm2 T G 9: 20,579,840 (GRCm39) probably null Het
Or10ag52 T A 2: 87,044,072 (GRCm39) S279T probably benign Het
Or10x4 T C 1: 174,218,941 (GRCm39) F102S probably damaging Het
Pcdh15 C T 10: 74,462,620 (GRCm39) P1398L probably damaging Het
Pdpr A G 8: 111,841,443 (GRCm39) E225G possibly damaging Het
Pigs C A 11: 78,219,595 (GRCm39) probably null Het
Pkhd1 T A 1: 20,658,755 (GRCm39) T159S probably damaging Het
Plk4 A G 3: 40,768,021 (GRCm39) T87A possibly damaging Het
Plxna4 T C 6: 32,192,657 (GRCm39) Y768C probably damaging Het
Prl3d3 T A 13: 27,343,064 (GRCm39) probably null Het
Pygb T C 2: 150,662,808 (GRCm39) probably null Het
Rnf114 T C 2: 167,352,854 (GRCm39) I118T possibly damaging Het
Sbno2 A G 10: 79,894,287 (GRCm39) L1099P probably benign Het
Scaper T C 9: 55,714,916 (GRCm39) K791E probably damaging Het
Serping1 T C 2: 84,601,889 (GRCm39) T194A probably damaging Het
Slc12a9 A G 5: 137,319,665 (GRCm39) S617P possibly damaging Het
Slk G A 19: 47,624,896 (GRCm39) R1039H probably damaging Het
Sntb1 T A 15: 55,655,535 (GRCm39) E227V probably benign Het
Sostdc1 C A 12: 36,364,407 (GRCm39) P39T probably benign Het
Spred1 C T 2: 116,983,486 (GRCm39) R16* probably null Het
Srpk2 A G 5: 23,723,475 (GRCm39) I547T probably damaging Het
Stt3a A G 9: 36,670,610 (GRCm39) Y54H probably damaging Het
Stt3b A T 9: 115,095,215 (GRCm39) L272H probably damaging Het
Syne2 T A 12: 76,154,991 (GRCm39) probably null Het
Usp15 A T 10: 122,966,892 (GRCm39) L476* probably null Het
Vmn1r189 T C 13: 22,286,336 (GRCm39) Y167C probably damaging Het
Vmn2r24 A G 6: 123,763,938 (GRCm39) T272A possibly damaging Het
Vps13a A T 19: 16,646,054 (GRCm39) H1994Q probably damaging Het
Zbtb10 T C 3: 9,330,252 (GRCm39) S537P probably damaging Het
Zbtb12 T C 17: 35,114,859 (GRCm39) S215P possibly damaging Het
Zfp346 T C 13: 55,260,915 (GRCm39) M81T probably benign Het
Zfp800 T C 6: 28,244,512 (GRCm39) D151G 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
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
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'- TCTCAGGAAGCAATAGGGATGC -3'
(R):5'- GAAACGGGATGTTACGCCAG -3'

Sequencing Primer
(F):5'- GCAATAGGGATGCATATATAGGTTTC -3'
(R):5'- GGATGTTACGCCAGTGAATTAACC -3'
Posted On 2017-12-01