Incidental Mutation 'R8519:Uggt1'
ID 660803
Institutional Source Beutler Lab
Gene Symbol Uggt1
Ensembl Gene ENSMUSG00000037470
Gene Name UDP-glucose glycoprotein glucosyltransferase 1
Synonyms C820010P03Rik, 0910001L17Rik, Ugcgl1, A930007H10Rik
MMRRC Submission 067946-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.470) question?
Stock # R8519 (G1)
Quality Score 166.009
Status Validated
Chromosome 1
Chromosomal Location 36179109-36283407 bp(-) (GRCm39)
Type of Mutation splice site (133 bp from exon)
DNA Base Change (assembly) A to C at 36215724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000037930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046875] [ENSMUST00000173166] [ENSMUST00000174266]
AlphaFold Q6P5E4
Predicted Effect probably null
Transcript: ENSMUST00000046875
SMART Domains Protein: ENSMUSP00000037930
Gene: ENSMUSG00000037470

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: ENSMUST00000174224
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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (67/67)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 T C 10: 61,038,619 (GRCm39) T964A possibly damaging Het
Adamts7 G A 9: 90,075,610 (GRCm39) W1156* probably null Het
Adcy9 T C 16: 4,105,992 (GRCm39) I1041V possibly damaging Het
Armh4 T C 14: 50,010,693 (GRCm39) D338G probably damaging Het
Art4 C A 6: 136,831,349 (GRCm39) probably null Het
Bcl9 A G 3: 97,116,334 (GRCm39) S787P probably benign Het
Bptf T C 11: 106,952,590 (GRCm39) T2088A probably damaging Het
Cdc45 T C 16: 18,627,597 (GRCm39) N76S probably damaging Het
Cdon A G 9: 35,389,950 (GRCm39) D868G probably damaging Het
Cldn10 T G 14: 119,092,439 (GRCm39) V13G probably benign Het
Cnot6 G T 11: 49,575,941 (GRCm39) Q178K probably benign Het
Crot T C 5: 9,023,629 (GRCm39) I420V probably benign Het
Csgalnact1 T A 8: 68,854,105 (GRCm39) H232L possibly damaging Het
Cuzd1 T C 7: 130,910,626 (GRCm39) I556M possibly damaging Het
Cyp2c54 G A 19: 40,026,857 (GRCm39) R433W probably damaging Het
Cyp2j11 A G 4: 96,207,539 (GRCm39) F259L probably benign Het
Dhx9 C T 1: 153,348,922 (GRCm39) G264R probably damaging Het
Dnah5 G A 15: 28,299,245 (GRCm39) V1536M probably benign Het
Erlin1 T A 19: 44,058,041 (GRCm39) probably benign Het
Foxb2 C A 19: 16,850,347 (GRCm39) V220L possibly damaging Het
Gigyf2 A T 1: 87,338,431 (GRCm39) T388S probably benign Het
Gimap5 T C 6: 48,730,068 (GRCm39) C213R probably benign Het
Gkap1 T G 13: 58,386,506 (GRCm39) K57N probably damaging Het
H60b T G 10: 22,159,421 (GRCm39) probably benign Het
Hectd4 C T 5: 121,442,489 (GRCm39) R670* probably null Het
Hoxc9 A G 15: 102,892,341 (GRCm39) N185D probably damaging Het
Igkv1-117 A G 6: 68,098,766 (GRCm39) E105G possibly damaging Het
Klk10 T A 7: 43,432,239 (GRCm39) Y57* probably null Het
Lrrc63 A T 14: 75,363,312 (GRCm39) I273K possibly damaging Het
M6pr T C 6: 122,292,025 (GRCm39) I119T probably damaging Het
Mael T C 1: 166,063,127 (GRCm39) probably null Het
Magi1 A G 6: 93,681,330 (GRCm39) S574P possibly damaging Het
Man2c1 A G 9: 57,044,061 (GRCm39) D291G probably benign Het
Mapk1ip1l A T 14: 47,547,920 (GRCm39) probably benign Het
Mrc2 A G 11: 105,238,132 (GRCm39) T1135A possibly damaging Het
Mrpl39 A G 16: 84,527,736 (GRCm39) V164A probably benign Het
Mynn C A 3: 30,661,290 (GRCm39) P124H probably damaging Het
Or11l3 T G 11: 58,516,800 (GRCm39) Q23P probably damaging Het
Or14n1-ps1 A T 7: 86,093,062 (GRCm39) N291I probably damaging Het
Or2k2 A G 4: 58,785,203 (GRCm39) I173T probably damaging Het
Or2t48 A G 11: 58,420,329 (GRCm39) F161S possibly damaging Het
Or6k2 A G 1: 173,986,614 (GRCm39) I92V probably damaging Het
Pcif1 A G 2: 164,726,303 (GRCm39) N68S probably damaging Het
Pcm1 T A 8: 41,728,976 (GRCm39) N649K probably damaging Het
Pira1 T C 7: 3,740,432 (GRCm39) Q263R probably benign Het
Plxna2 T A 1: 194,476,266 (GRCm39) I1162N probably damaging Het
Pnp2 T A 14: 51,201,842 (GRCm39) L276Q probably damaging Het
Sirpb1c T A 3: 15,902,526 (GRCm39) I18F possibly damaging Het
Slc2a12 A T 10: 22,540,678 (GRCm39) M178L probably damaging Het
Slc35c1 G T 2: 92,285,052 (GRCm39) F187L probably benign Het
Smg1 T C 7: 117,770,982 (GRCm39) probably benign Het
Spmip6 A G 4: 41,505,071 (GRCm39) S214P possibly damaging Het
Spopfm2 T C 3: 94,083,497 (GRCm39) M105V probably benign Het
Stn1 T C 19: 47,490,111 (GRCm39) H342R probably benign Het
Sult1c2 A T 17: 54,276,709 (GRCm39) H117Q probably damaging Het
Thap1 G A 8: 26,650,925 (GRCm39) R42K probably damaging Het
Tpp2 A T 1: 44,016,365 (GRCm39) probably null Het
Trib2 G T 12: 15,865,347 (GRCm39) P76Q probably damaging Het
Ttc24 G T 3: 87,980,369 (GRCm39) Q111K probably damaging Het
Ubr4 T C 4: 139,143,958 (GRCm39) S1401P probably damaging Het
Ugt2b1 A G 5: 87,074,326 (GRCm39) L11S probably damaging Het
Uso1 T G 5: 92,343,222 (GRCm39) S769A probably benign Het
Vmn2r117 T C 17: 23,698,442 (GRCm39) T44A probably benign Het
Vmn2r28 T A 7: 5,489,347 (GRCm39) L497F probably benign Het
Vsig10l G A 7: 43,114,326 (GRCm39) S318N probably benign Het
Wbp4 A G 14: 79,714,263 (GRCm39) L83P probably damaging Het
Wnk1 G A 6: 119,927,044 (GRCm39) R1510W probably damaging Het
Zc3hav1l C T 6: 38,272,176 (GRCm39) V198M probably damaging Het
Zfp1004 A G 2: 150,034,700 (GRCm39) I340M 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
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
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'- TCTCTACTAACATGAAGCAGAGGG -3'
(R):5'- TCCATCTGCCTTGATTGCTAAG -3'

Sequencing Primer
(F):5'- GACCTTCCAAGTGGCTCAGTGAG -3'
(R):5'- ATCTGCCTTGATTGCTAAGTGTAC -3'
Posted On 2021-03-03