Incidental Mutation 'R7165:Uggt1'
ID 557834
Institutional Source Beutler Lab
Gene Symbol Uggt1
Ensembl Gene ENSMUSG00000037470
Gene Name UDP-glucose glycoprotein glucosyltransferase 1
Synonyms C820010P03Rik, 0910001L17Rik, Ugcgl1, A930007H10Rik
MMRRC Submission 045262-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.470) question?
Stock # R7165 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 36179109-36283407 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 36194188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 1350 (V1350G)
Ref Sequence ENSEMBL: ENSMUSP00000037930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046875] [ENSMUST00000174266]
AlphaFold Q6P5E4
Predicted Effect probably benign
Transcript: ENSMUST00000046875
AA Change: V1350G

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000037930
Gene: ENSMUSG00000037470
AA Change: V1350G

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: ENSMUST00000174266
SMART Domains Protein: ENSMUSP00000134640
Gene: ENSMUSG00000037470

DomainStartEndE-ValueType
signal peptide 1 42 N/A INTRINSIC
low complexity region 88 97 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 98% (79/81)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl C A 2: 127,965,028 (GRCm39) A624E probably benign Het
Adnp A G 2: 168,024,287 (GRCm39) S1003P probably benign Het
Akap8l T C 17: 32,557,386 (GRCm39) D75G probably damaging Het
Ap4e1 A T 2: 126,905,238 (GRCm39) T970S possibly damaging Het
Asb3 T A 11: 30,979,029 (GRCm39) N106K probably damaging Het
Atp1a3 T C 7: 24,678,390 (GRCm39) I988V probably benign Het
Camta1 A G 4: 151,169,157 (GRCm39) L198S possibly damaging Het
Ccdc77 A G 6: 120,327,193 (GRCm39) L84P probably damaging Het
Ccne1 C T 7: 37,798,726 (GRCm39) A298T probably damaging Het
Cdc42bpb T A 12: 111,287,951 (GRCm39) E532V probably damaging Het
Clasp2 G A 9: 113,615,467 (GRCm39) probably null Het
Cntnap5b C A 1: 100,003,887 (GRCm39) T289N possibly damaging Het
Dcun1d4 A G 5: 73,648,538 (GRCm39) probably null Het
Dnah14 A G 1: 181,532,100 (GRCm39) T2296A probably benign Het
Dnaja4 A T 9: 54,616,516 (GRCm39) Q173L probably damaging Het
Dync2h1 G A 9: 7,050,479 (GRCm39) A3190V probably benign Het
Frrs1 T A 3: 116,671,920 (GRCm39) I6N probably benign Het
Fscn1 T C 5: 142,957,801 (GRCm39) V477A probably benign Het
Fsip2 G A 2: 82,811,541 (GRCm39) G2620E possibly damaging Het
Glp1r C T 17: 31,128,297 (GRCm39) A92V probably benign Het
Gpr137b A T 13: 13,542,205 (GRCm39) M204K probably damaging Het
Gstm1 A G 3: 107,923,693 (GRCm39) V104A probably benign Het
Gtf2e1 A T 16: 37,356,228 (GRCm39) N101K probably damaging Het
Igsf9b T C 9: 27,245,536 (GRCm39) F1168L probably benign Het
Itpr2 A T 6: 146,195,589 (GRCm39) V1629E probably damaging Het
Kat14 A G 2: 144,235,918 (GRCm39) T428A probably benign Het
Kif21b T C 1: 136,077,186 (GRCm39) Y403H probably damaging Het
Lpcat1 G C 13: 73,662,649 (GRCm39) A533P probably benign Het
Lrp2 A T 2: 69,336,917 (GRCm39) I1285N probably damaging Het
Mboat1 A T 13: 30,408,398 (GRCm39) Y187F probably damaging Het
Mkx T C 18: 7,002,525 (GRCm39) N7S probably damaging Het
Mrps27 A T 13: 99,551,307 (GRCm39) T357S possibly damaging Het
Muc21 A G 17: 35,932,870 (GRCm39) S439P unknown Het
Naa35 A G 13: 59,733,997 (GRCm39) D9G probably benign Het
Ncoa4 T A 14: 31,897,940 (GRCm39) N253K probably damaging Het
Neb A G 2: 52,160,318 (GRCm39) Y2232H probably damaging Het
Nlk G A 11: 78,481,793 (GRCm39) Q223* probably null Het
Npas2 T A 1: 39,331,798 (GRCm39) I71N possibly damaging Het
Nup107 T A 10: 117,609,267 (GRCm39) Q364L probably damaging Het
Or8g17 T A 9: 38,934,566 (GRCm39) probably benign Het
Otof C T 5: 30,532,964 (GRCm39) G1593S probably damaging Het
Panx3 G T 9: 37,575,381 (GRCm39) H160Q probably damaging Het
Pappa T A 4: 65,180,110 (GRCm39) H990Q probably damaging Het
Pax4 G A 6: 28,446,136 (GRCm39) P119L probably damaging Het
Pcdhb20 T A 18: 37,638,123 (GRCm39) D216E probably damaging Het
Pcdhgb8 T A 18: 37,896,231 (GRCm39) S434T possibly damaging Het
Pf4 T C 5: 90,920,448 (GRCm39) V3A probably benign Het
Phf24 T C 4: 42,938,325 (GRCm39) S229P probably benign Het
Plcd3 A G 11: 102,970,439 (GRCm39) F200S probably damaging Het
Ppp1r16a A G 15: 76,575,104 (GRCm39) H4R probably damaging Het
Pramel15 A G 4: 144,099,389 (GRCm39) C459R probably damaging Het
Prdm10 A G 9: 31,227,738 (GRCm39) probably null Het
Prim2 A G 1: 33,667,474 (GRCm39) probably null Het
Prkg1 T A 19: 30,562,599 (GRCm39) H550L probably damaging Het
Prrc2c G T 1: 162,501,086 (GRCm39) T2809N possibly damaging Het
Ptx3 A G 3: 66,132,391 (GRCm39) E304G probably benign Het
Ralgps2 A G 1: 156,655,818 (GRCm39) F369L probably benign Het
Rasgrp1 G A 2: 117,168,885 (GRCm39) T31I probably benign Het
Rbsn A T 6: 92,168,315 (GRCm39) M373K probably benign Het
Rnf168 C G 16: 32,101,179 (GRCm39) R120G probably benign Het
Rp1 A G 1: 4,420,140 (GRCm39) I324T probably damaging Het
Samd11 T C 4: 156,336,747 (GRCm39) S31G probably benign Het
Sart3 A T 5: 113,884,056 (GRCm39) L652Q probably benign Het
Scrn2 A G 11: 96,924,634 (GRCm39) E421G probably benign Het
Sik2 A T 9: 50,828,397 (GRCm39) L215Q probably damaging Het
Speer4a3 AACT A 5: 26,155,849 (GRCm39) probably benign Het
Stard9 A T 2: 120,534,639 (GRCm39) K3632M probably damaging Het
Swt1 A T 1: 151,264,428 (GRCm39) D695E probably damaging Het
Tead3 T A 17: 28,552,228 (GRCm39) M357L probably benign Het
Tgfbi A T 13: 56,775,829 (GRCm39) T292S probably damaging Het
Tmc7 T C 7: 118,155,157 (GRCm39) H247R probably benign Het
Trmt10b T A 4: 45,308,549 (GRCm39) D236E probably damaging Het
Tshz1 C A 18: 84,034,052 (GRCm39) V119L probably damaging Het
Ttn A C 2: 76,658,258 (GRCm39) V12374G unknown Het
Tubgcp2 A G 7: 139,585,274 (GRCm39) Y484H probably damaging Het
Ubr4 G C 4: 139,177,824 (GRCm39) A1947P Het
Vmn1r173 A T 7: 23,402,076 (GRCm39) M104L probably benign Het
Xirp1 A T 9: 119,848,113 (GRCm39) C257S probably damaging Het
Zfyve26 A G 12: 79,327,179 (GRCm39) S724P probably damaging Het
Zmpste24 A T 4: 120,940,091 (GRCm39) L185Q probably null Het
Zpld1 G A 16: 55,052,594 (GRCm39) A340V probably benign 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
R5385:Uggt1 UTSW 1 36,223,493 (GRCm39) missense probably damaging 1.00
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
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'- GAAAAGGAGATGTGTTAATGGAACTT -3'
(R):5'- AGACCTTGTTTCAGTGCGAG -3'

Sequencing Primer
(F):5'- GGAACTTAAATACAAAAGGTGATGAC -3'
(R):5'- ATCAGAGTGAATGATTGTTGTTCCC -3'
Posted On 2019-06-26