Incidental Mutation 'R5385:Uggt1'
ID 425022
Institutional Source Beutler Lab
Gene Symbol Uggt1
Ensembl Gene ENSMUSG00000037470
Gene Name UDP-glucose glycoprotein glucosyltransferase 1
Synonyms C820010P03Rik, 0910001L17Rik, Ugcgl1, A930007H10Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.470) question?
Stock # R5385 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 36179109-36283407 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36223493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 599 (Y599H)
Ref Sequence ENSEMBL: ENSMUSP00000037930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046875] [ENSMUST00000173166] [ENSMUST00000174266]
AlphaFold Q6P5E4
Predicted Effect probably damaging
Transcript: ENSMUST00000046875
AA Change: Y599H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000037930
Gene: ENSMUSG00000037470
AA Change: Y599H

DomainStartEndE-ValueType
signal peptide 1 42 N/A INTRINSIC
Pfam:UDP-g_GGTase 44 1222 N/A PFAM
SCOP:d1ga8a_ 1256 1521 3e-45 SMART
Blast:BROMO 1414 1453 3e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000173166
Predicted Effect probably benign
Transcript: ENSMUST00000174142
SMART Domains Protein: ENSMUSP00000133929
Gene: ENSMUSG00000037470

DomainStartEndE-ValueType
Pfam:UDP-g_GGTase 1 52 7.8e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174266
SMART Domains Protein: ENSMUSP00000134640
Gene: ENSMUSG00000037470

DomainStartEndE-ValueType
signal peptide 1 42 N/A INTRINSIC
low complexity region 88 97 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174716
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]
PHENOTYPE: Heterozygous KO reduces susceptibility to and morbidity of RNA virus infection. Homozygous KO is embryonic lethal. The peptide is a folding sensor for glycoproteins in the ER. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 129 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17a T C 10: 80,421,446 (GRCm39) T175A probably benign Het
Adam23 A G 1: 63,590,970 (GRCm39) D479G possibly damaging Het
Adgrl3 T G 5: 81,874,648 (GRCm39) Y1050D probably damaging Het
Ago4 A G 4: 126,411,349 (GRCm39) I103T probably benign Het
Ajuba T C 14: 54,807,855 (GRCm39) Y459C probably damaging Het
Aldh7a1 T A 18: 56,667,325 (GRCm39) N316Y possibly damaging Het
Alyref2 A G 1: 171,331,271 (GRCm39) N16S probably benign Het
Ankhd1 A G 18: 36,724,548 (GRCm39) E402G probably damaging Het
Ankrd36 A G 11: 5,639,340 (GRCm39) probably benign Het
Ap2b1 T C 11: 83,233,427 (GRCm39) V480A probably damaging Het
Arhgap30 A G 1: 171,235,848 (GRCm39) R741G probably benign Het
Canx A G 11: 50,192,639 (GRCm39) L325P probably damaging Het
Ccpg1 G A 9: 72,920,326 (GRCm39) S647N probably benign Het
Cdc37l1 T G 19: 28,989,343 (GRCm39) S267A possibly damaging Het
Cert1 A G 13: 96,765,575 (GRCm39) T447A possibly damaging Het
Ces1f A T 8: 93,992,388 (GRCm39) C354* probably null Het
Cpne1 A T 2: 155,916,284 (GRCm39) V350D probably damaging Het
Ctdsp2 A G 10: 126,832,326 (GRCm39) T262A probably benign Het
Cypt4 A G 9: 24,536,596 (GRCm39) K29E possibly damaging Het
Dlg2 T C 7: 91,737,784 (GRCm39) V422A probably damaging Het
Dmxl2 A G 9: 54,286,041 (GRCm39) S2715P probably benign Het
Dnah3 T A 7: 119,524,126 (GRCm39) K3953N probably damaging Het
Dnmt1 A G 9: 20,829,776 (GRCm39) V647A probably damaging Het
Duox2 A G 2: 122,125,617 (GRCm39) V330A probably benign Het
Dusp8 T A 7: 141,643,730 (GRCm39) Q61L possibly damaging Het
Dync2h1 T C 9: 7,016,791 (GRCm39) D3573G probably damaging Het
Ears2 G C 7: 121,643,600 (GRCm39) T426S probably benign Het
Ext1 C A 15: 52,939,213 (GRCm39) W612L probably damaging Het
Fam91a1 G A 15: 58,320,243 (GRCm39) S645N probably benign Het
Fat3 A T 9: 15,833,971 (GRCm39) L4207Q possibly damaging Het
Fbxo38 A G 18: 62,674,042 (GRCm39) M13T probably benign Het
Fbxo48 G T 11: 16,904,329 (GRCm39) L160F possibly damaging Het
Fer1l4 G A 2: 155,879,286 (GRCm39) Q906* probably null Het
Fpr2 C A 17: 18,113,309 (GRCm39) H102N probably benign Het
Gm10134 T A 2: 28,396,372 (GRCm39) probably benign Het
Gpr107 A G 2: 31,104,263 (GRCm39) T523A probably benign Het
Grin3a G A 4: 49,719,313 (GRCm39) P811L probably damaging Het
Hivep1 A T 13: 42,317,871 (GRCm39) probably null Het
Hmcn2 A G 2: 31,350,333 (GRCm39) T5077A probably benign Het
Hpse C T 5: 100,856,590 (GRCm39) W136* probably null Het
Ifitm3 T C 7: 140,590,554 (GRCm39) N2S probably benign Het
Ifnar2 T A 16: 91,201,086 (GRCm39) D442E possibly damaging Het
Jade1 T A 3: 41,546,137 (GRCm39) I54N probably damaging Het
Jag1 A T 2: 136,937,464 (GRCm39) H303Q possibly damaging Het
Kcnh4 T C 11: 100,643,076 (GRCm39) D397G probably damaging Het
Kcnj1 A G 9: 32,308,019 (GRCm39) R148G probably damaging Het
Lct T G 1: 128,239,354 (GRCm39) K277N possibly damaging Het
Loxl3 A G 6: 83,027,593 (GRCm39) M712V probably damaging Het
Ly75 A G 2: 60,133,985 (GRCm39) C1547R probably damaging Het
Marcks A G 10: 37,014,453 (GRCm39) S27P probably damaging Het
Mef2c A G 13: 83,810,532 (GRCm39) T347A probably benign Het
Mmp3 C T 9: 7,451,759 (GRCm39) R366* probably null Het
Mrgprx2 T C 7: 48,132,753 (GRCm39) T22A probably benign Het
Msc C A 1: 14,825,644 (GRCm39) R110L probably damaging Het
Mtcl3 A G 10: 29,072,766 (GRCm39) D686G probably benign Het
Myh11 A T 16: 14,025,872 (GRCm39) V1366D possibly damaging Het
Ncf1 A G 5: 134,250,659 (GRCm39) L373P probably damaging Het
Neb A T 2: 52,079,873 (GRCm39) I85N probably damaging Het
Nfkb1 A G 3: 135,318,303 (GRCm39) V310A possibly damaging Het
Nop2 T C 6: 125,121,324 (GRCm39) V702A probably benign Het
Nudt12 A G 17: 59,310,434 (GRCm39) W390R probably damaging Het
Or10ag53 C T 2: 87,082,827 (GRCm39) P182L probably benign Het
Or10v9 T A 19: 11,832,541 (GRCm39) I259F probably damaging Het
Or11g24 T A 14: 50,662,846 (GRCm39) V290E possibly damaging Het
Or1af1 G T 2: 37,109,599 (GRCm39) A33S possibly damaging Het
Or51e1 T C 7: 102,358,553 (GRCm39) L29P probably damaging Het
Or6c208 A G 10: 129,223,633 (GRCm39) I44V probably benign Het
Or6n2 A T 1: 173,897,036 (GRCm39) K57N probably benign Het
Or8a1b A T 9: 37,623,317 (GRCm39) V86E probably damaging Het
Or8c11 A T 9: 38,289,281 (GRCm39) I29F probably benign Het
Or8g2b A G 9: 39,751,126 (GRCm39) Y132C possibly damaging Het
Otub2 G A 12: 103,359,055 (GRCm39) probably benign Het
Pck2 A G 14: 55,782,688 (GRCm39) E339G probably damaging Het
Pdcd7 G A 9: 65,265,974 (GRCm39) W477* probably null Het
Pdpk1 G A 17: 24,317,114 (GRCm39) Q250* probably null Het
Pigb T A 9: 72,946,827 (GRCm39) H16L probably benign Het
Pitpnm1 T C 19: 4,153,435 (GRCm39) F197S probably damaging Het
Plekhh2 T C 17: 84,864,894 (GRCm39) V94A probably benign Het
Pnpla7 C A 2: 24,931,031 (GRCm39) P882Q probably damaging Het
Pold2 A G 11: 5,826,760 (GRCm39) L58P probably damaging Het
Pomt1 C G 2: 32,134,311 (GRCm39) Y277* probably null Het
Prex2 A G 1: 11,210,204 (GRCm39) D548G probably damaging Het
Prkra T G 2: 76,469,622 (GRCm39) T146P probably damaging Het
Prss51 T A 14: 64,334,543 (GRCm39) V108E probably damaging Het
Rai2 A G X: 160,561,636 (GRCm39) N363S probably benign Het
Ranbp17 A T 11: 33,169,241 (GRCm39) V991D possibly damaging Het
Riox2 T A 16: 59,306,979 (GRCm39) M290K probably benign Het
Rnpepl1 T A 1: 92,844,914 (GRCm39) L402Q probably damaging Het
S1pr2 T C 9: 20,878,890 (GRCm39) T313A probably benign Het
Sesn2 A G 4: 132,226,575 (GRCm39) I173T probably damaging Het
Setx T G 2: 29,024,045 (GRCm39) probably null Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,103,382 (GRCm39) probably benign Het
Sgsm3 T C 15: 80,892,200 (GRCm39) V256A probably benign Het
Shroom4 T A X: 6,497,523 (GRCm39) C894* probably null Het
Slc13a5 T A 11: 72,149,903 (GRCm39) E159D probably benign Het
Slc16a7 A G 10: 125,130,473 (GRCm39) Y71H possibly damaging Het
Slc28a2b C A 2: 122,353,259 (GRCm39) L480I probably benign Het
Slc4a7 T C 14: 14,773,345 (GRCm38) F772L possibly damaging Het
Snapc4 A G 2: 26,264,515 (GRCm39) S275P probably benign Het
Sorl1 T C 9: 41,968,580 (GRCm39) T558A possibly damaging Het
Sspo C T 6: 48,439,187 (GRCm39) P1612S probably benign Het
Stard9 A G 2: 120,531,111 (GRCm39) E2456G probably damaging Het
Stx1b A T 7: 127,414,575 (GRCm39) D16E probably benign Het
Supv3l1 A T 10: 62,266,375 (GRCm39) N600K possibly damaging Het
Syne1 C T 10: 4,991,494 (GRCm39) V557I probably benign Het
Tanc2 T A 11: 105,667,672 (GRCm39) D84E probably damaging Het
Tep1 A T 14: 51,105,774 (GRCm39) L82Q probably damaging Het
Tfip11 T C 5: 112,479,086 (GRCm39) probably null Het
Thtpa G T 14: 55,333,290 (GRCm39) R125L probably damaging Het
Tm9sf1 C T 14: 55,880,301 (GRCm39) G32D possibly damaging Het
Tmcc3 A T 10: 94,415,015 (GRCm39) N239I probably damaging Het
Tpd52 A T 3: 8,996,255 (GRCm39) probably null Het
Traf6 T A 2: 101,515,100 (GRCm39) C85* probably null Het
Trim68 T G 7: 102,327,990 (GRCm39) D321A probably damaging Het
Trmt6 C A 2: 132,650,703 (GRCm39) A302S probably benign Het
Ttbk1 T C 17: 46,758,558 (GRCm39) D692G probably benign Het
Ttc17 A T 2: 94,133,985 (GRCm39) W1067R probably damaging Het
Ttc6 T A 12: 57,689,821 (GRCm39) probably null Het
Tut7 A T 13: 59,937,660 (GRCm39) probably null Het
Txnrd2 T G 16: 18,296,442 (GRCm39) I468S probably damaging Het
Ube2b A T 11: 51,879,471 (GRCm39) Y100N probably damaging Het
Ucn3 A T 13: 3,991,474 (GRCm39) F59L probably benign Het
Ulk3 T A 9: 57,498,023 (GRCm39) I108N possibly damaging Het
Vav3 A G 3: 109,434,791 (GRCm39) M441V possibly damaging Het
Vmn2r1 T A 3: 64,008,819 (GRCm39) D499E possibly damaging Het
Vmn2r118 C T 17: 55,918,565 (GRCm39) G109D probably benign Het
Vmn2r5 T A 3: 64,416,931 (GRCm39) M76L probably benign Het
Vwa3a A G 7: 120,389,365 (GRCm39) K68E possibly damaging Het
Zmiz1 A T 14: 25,650,237 (GRCm39) Y459F probably damaging Het
Other mutations in Uggt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Uggt1 APN 1 36,218,633 (GRCm39) splice site probably benign
IGL00817:Uggt1 APN 1 36,225,013 (GRCm39) missense probably benign 0.03
IGL01395:Uggt1 APN 1 36,194,158 (GRCm39) missense probably damaging 1.00
IGL01609:Uggt1 APN 1 36,221,555 (GRCm39) missense probably damaging 1.00
IGL01619:Uggt1 APN 1 36,200,775 (GRCm39) missense probably damaging 0.99
IGL02077:Uggt1 APN 1 36,215,875 (GRCm39) missense probably damaging 0.99
IGL02313:Uggt1 APN 1 36,223,565 (GRCm39) missense probably damaging 0.99
IGL02341:Uggt1 APN 1 36,203,600 (GRCm39) makesense probably null
IGL02346:Uggt1 APN 1 36,218,751 (GRCm39) missense probably benign 0.00
IGL02447:Uggt1 APN 1 36,189,223 (GRCm39) missense probably damaging 1.00
IGL02883:Uggt1 APN 1 36,216,696 (GRCm39) missense probably benign 0.03
IGL02930:Uggt1 APN 1 36,196,537 (GRCm39) missense probably benign 0.01
IGL03153:Uggt1 APN 1 36,241,899 (GRCm39) missense possibly damaging 0.94
IGL03162:Uggt1 APN 1 36,247,037 (GRCm39) missense probably damaging 1.00
IGL03170:Uggt1 APN 1 36,202,342 (GRCm39) missense probably damaging 1.00
IGL03266:Uggt1 APN 1 36,189,129 (GRCm39) missense probably damaging 1.00
K3955:Uggt1 UTSW 1 36,201,434 (GRCm39) missense probably benign 0.37
R0037:Uggt1 UTSW 1 36,225,013 (GRCm39) missense probably benign 0.03
R0037:Uggt1 UTSW 1 36,225,013 (GRCm39) missense probably benign 0.03
R0167:Uggt1 UTSW 1 36,209,278 (GRCm39) critical splice donor site probably null
R0373:Uggt1 UTSW 1 36,218,751 (GRCm39) missense probably benign 0.00
R0502:Uggt1 UTSW 1 36,199,027 (GRCm39) missense probably damaging 1.00
R0546:Uggt1 UTSW 1 36,235,052 (GRCm39) missense probably benign 0.00
R0610:Uggt1 UTSW 1 36,204,587 (GRCm39) splice site probably benign
R0671:Uggt1 UTSW 1 36,194,209 (GRCm39) missense probably damaging 1.00
R0760:Uggt1 UTSW 1 36,200,805 (GRCm39) missense possibly damaging 0.68
R0825:Uggt1 UTSW 1 36,197,224 (GRCm39) missense probably benign 0.01
R0827:Uggt1 UTSW 1 36,195,394 (GRCm39) critical splice acceptor site probably null
R0884:Uggt1 UTSW 1 36,214,159 (GRCm39) missense probably benign 0.00
R1112:Uggt1 UTSW 1 36,212,627 (GRCm39) missense possibly damaging 0.54
R1470:Uggt1 UTSW 1 36,215,877 (GRCm39) missense probably benign 0.13
R1470:Uggt1 UTSW 1 36,215,877 (GRCm39) missense probably benign 0.13
R1592:Uggt1 UTSW 1 36,241,939 (GRCm39) missense probably benign 0.04
R1730:Uggt1 UTSW 1 36,260,342 (GRCm39) missense probably benign 0.05
R1923:Uggt1 UTSW 1 36,218,694 (GRCm39) missense probably damaging 0.99
R1970:Uggt1 UTSW 1 36,190,862 (GRCm39) missense probably damaging 1.00
R2086:Uggt1 UTSW 1 36,231,495 (GRCm39) missense probably null 1.00
R2829:Uggt1 UTSW 1 36,201,375 (GRCm39) missense probably benign 0.38
R3431:Uggt1 UTSW 1 36,249,140 (GRCm39) nonsense probably null
R3432:Uggt1 UTSW 1 36,249,140 (GRCm39) nonsense probably null
R3725:Uggt1 UTSW 1 36,221,588 (GRCm39) nonsense probably null
R3880:Uggt1 UTSW 1 36,215,885 (GRCm39) intron probably benign
R4052:Uggt1 UTSW 1 36,203,570 (GRCm39) missense probably damaging 0.98
R4133:Uggt1 UTSW 1 36,197,240 (GRCm39) missense probably damaging 1.00
R4489:Uggt1 UTSW 1 36,185,749 (GRCm39) nonsense probably null
R4570:Uggt1 UTSW 1 36,189,154 (GRCm39) missense probably damaging 1.00
R4866:Uggt1 UTSW 1 36,241,936 (GRCm39) nonsense probably null
R4895:Uggt1 UTSW 1 36,195,345 (GRCm39) missense probably damaging 1.00
R4900:Uggt1 UTSW 1 36,241,936 (GRCm39) nonsense probably null
R5372:Uggt1 UTSW 1 36,283,141 (GRCm39) splice site probably benign
R5652:Uggt1 UTSW 1 36,255,234 (GRCm39) nonsense probably null
R5694:Uggt1 UTSW 1 36,218,737 (GRCm39) missense probably damaging 1.00
R5732:Uggt1 UTSW 1 36,200,852 (GRCm39) splice site probably null
R5893:Uggt1 UTSW 1 36,266,709 (GRCm39) splice site probably null
R6191:Uggt1 UTSW 1 36,201,289 (GRCm39) missense probably damaging 0.98
R6247:Uggt1 UTSW 1 36,202,309 (GRCm39) missense probably damaging 1.00
R6259:Uggt1 UTSW 1 36,273,997 (GRCm39) missense probably benign 0.00
R6399:Uggt1 UTSW 1 36,202,447 (GRCm39) missense possibly damaging 0.90
R6439:Uggt1 UTSW 1 36,214,032 (GRCm39) missense possibly damaging 0.95
R6468:Uggt1 UTSW 1 36,212,531 (GRCm39) missense probably benign 0.00
R6788:Uggt1 UTSW 1 36,269,769 (GRCm39) missense probably benign 0.00
R7165:Uggt1 UTSW 1 36,194,188 (GRCm39) missense probably benign 0.41
R7255:Uggt1 UTSW 1 36,185,187 (GRCm39) missense probably damaging 1.00
R7273:Uggt1 UTSW 1 36,201,302 (GRCm39) missense probably damaging 0.99
R7469:Uggt1 UTSW 1 36,190,814 (GRCm39) missense probably damaging 1.00
R7490:Uggt1 UTSW 1 36,203,589 (GRCm39) missense probably benign 0.01
R7570:Uggt1 UTSW 1 36,224,919 (GRCm39) missense probably benign 0.09
R7612:Uggt1 UTSW 1 36,202,316 (GRCm39) missense probably damaging 0.99
R7759:Uggt1 UTSW 1 36,185,806 (GRCm39) missense possibly damaging 0.81
R7792:Uggt1 UTSW 1 36,247,065 (GRCm39) missense probably damaging 1.00
R7816:Uggt1 UTSW 1 36,202,396 (GRCm39) missense possibly damaging 0.95
R7858:Uggt1 UTSW 1 36,195,339 (GRCm39) missense probably damaging 1.00
R7887:Uggt1 UTSW 1 36,247,115 (GRCm39) missense probably damaging 0.99
R8040:Uggt1 UTSW 1 36,250,554 (GRCm39) missense possibly damaging 0.70
R8093:Uggt1 UTSW 1 36,266,566 (GRCm39) missense probably damaging 1.00
R8245:Uggt1 UTSW 1 36,204,645 (GRCm39) missense probably damaging 1.00
R8338:Uggt1 UTSW 1 36,266,602 (GRCm39) missense probably damaging 1.00
R8353:Uggt1 UTSW 1 36,209,377 (GRCm39) critical splice acceptor site probably null
R8442:Uggt1 UTSW 1 36,212,568 (GRCm39) missense probably damaging 0.99
R8519:Uggt1 UTSW 1 36,215,724 (GRCm39) splice site probably null
R8529:Uggt1 UTSW 1 36,223,513 (GRCm39) missense possibly damaging 0.85
R8730:Uggt1 UTSW 1 36,236,624 (GRCm39) critical splice donor site probably null
R8917:Uggt1 UTSW 1 36,185,735 (GRCm39) missense
R8947:Uggt1 UTSW 1 36,197,229 (GRCm39) missense probably benign 0.12
R9240:Uggt1 UTSW 1 36,221,696 (GRCm39) missense possibly damaging 0.50
R9248:Uggt1 UTSW 1 36,249,103 (GRCm39) missense possibly damaging 0.80
R9401:Uggt1 UTSW 1 36,255,212 (GRCm39) critical splice donor site probably null
R9414:Uggt1 UTSW 1 36,223,507 (GRCm39) missense probably benign 0.01
R9416:Uggt1 UTSW 1 36,203,603 (GRCm39) missense
R9441:Uggt1 UTSW 1 36,260,306 (GRCm39) missense probably benign 0.02
R9489:Uggt1 UTSW 1 36,273,886 (GRCm39) critical splice donor site probably null
R9563:Uggt1 UTSW 1 36,204,627 (GRCm39) missense possibly damaging 0.60
R9605:Uggt1 UTSW 1 36,273,886 (GRCm39) critical splice donor site probably null
X0022:Uggt1 UTSW 1 36,204,636 (GRCm39) missense possibly damaging 0.67
Z1088:Uggt1 UTSW 1 36,213,272 (GRCm39) missense probably damaging 1.00
Z1176:Uggt1 UTSW 1 36,200,776 (GRCm39) missense probably damaging 1.00
Z1177:Uggt1 UTSW 1 36,194,154 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- TGGTCTGTCGCATCAACACC -3'
(R):5'- TGAACTGATGGGACCATTTCAAG -3'

Sequencing Primer
(F):5'- TGTCGCATCAACACCCCAGTATAG -3'
(R):5'- CTATATAGCATGTTCCAGGCGAGC -3'
Posted On 2016-08-04