Incidental Mutation 'R9401:Uggt1'
ID 711185
Institutional Source Beutler Lab
Gene Symbol Uggt1
Ensembl Gene ENSMUSG00000037470
Gene Name UDP-glucose glycoprotein glucosyltransferase 1
Synonyms C820010P03Rik, 0910001L17Rik, Ugcgl1, A930007H10Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.470) question?
Stock # R9401 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 36179109-36283407 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 36255212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000037930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046875] [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: 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: 99.0%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A G 8: 111,780,785 (GRCm39) D850G probably benign Het
Abcc9 T A 6: 142,543,836 (GRCm39) T1480S possibly damaging Het
Adgrb3 C A 1: 25,592,783 (GRCm39) V335F probably damaging Het
Agfg1 C A 1: 82,859,958 (GRCm39) A275D probably benign Het
Alms1 T A 6: 85,655,001 (GRCm39) C2713* probably null Het
Atp8a1 G A 5: 67,906,492 (GRCm39) A474V Het
Baz1a C A 12: 54,963,339 (GRCm39) S918I probably damaging Het
Bcl2l12 G T 7: 44,643,674 (GRCm39) T120K possibly damaging Het
Bcl6 G T 16: 23,791,107 (GRCm39) Q416K possibly damaging Het
Cdhr1 T A 14: 36,820,055 (GRCm39) I16F probably benign Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cilp T C 9: 65,185,381 (GRCm39) V492A probably damaging Het
Crim1 CCGC CC 17: 78,658,294 (GRCm39) probably null Het
Crppa T C 12: 36,552,073 (GRCm39) V309A probably benign Het
Ctcfl T G 2: 172,947,881 (GRCm39) T479P probably damaging Het
Dlx6 A C 6: 6,863,581 (GRCm39) M68L probably benign Het
Dnah7a C A 1: 53,568,026 (GRCm39) V1857F probably benign Het
Dpy19l4 A G 4: 11,265,806 (GRCm39) V714A probably benign Het
Elovl7 T A 13: 108,419,188 (GRCm39) N273K probably benign Het
Fbxo22 A G 9: 55,130,628 (GRCm39) K299R probably benign Het
Fig4 A G 10: 41,143,733 (GRCm39) V242A probably benign Het
Fmo9 A T 1: 166,505,189 (GRCm39) M68K probably damaging Het
Fry T A 5: 150,302,403 (GRCm39) Y537N probably damaging Het
Fryl C T 5: 73,222,563 (GRCm39) W2006* probably null Het
Fzd8 T A 18: 9,213,205 (GRCm39) C96S possibly damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gspt1 T C 16: 11,050,535 (GRCm39) D272G possibly damaging Het
Gzmf A T 14: 56,448,813 (GRCm39) M1K probably null Het
Hipk1 T C 3: 103,685,295 (GRCm39) T107A probably benign Het
Hsd3b9 T G 3: 98,363,819 (GRCm39) T9P probably damaging Het
Ighe C T 12: 113,233,107 (GRCm39) C438Y Het
Igkv4-50 T A 6: 69,677,967 (GRCm39) R46W Het
Igsf3 T A 3: 101,333,075 (GRCm39) Y118N probably damaging Het
Itsn1 T A 16: 91,612,408 (GRCm39) Y266N probably damaging Het
Jph3 A G 8: 122,511,854 (GRCm39) E614G probably damaging Het
Klk1b8 T A 7: 43,603,674 (GRCm39) D170E probably benign Het
Ly6e A T 15: 74,830,153 (GRCm39) K36* probably null Het
Map3k6 C A 4: 132,968,467 (GRCm39) A23E probably damaging Het
Med13l T A 5: 118,883,089 (GRCm39) M1316K probably benign Het
Or5c1 T C 2: 37,222,293 (GRCm39) V178A possibly damaging Het
Or6c76b A G 10: 129,693,298 (GRCm39) R304G probably benign Het
Or8u3-ps A T 2: 85,952,368 (GRCm39) I34F possibly damaging Het
Pih1d2 T A 9: 50,529,905 (GRCm39) C45S probably damaging Het
Pik3r2 G A 8: 71,223,737 (GRCm39) S318L possibly damaging Het
Pknox1 T C 17: 31,802,752 (GRCm39) I9T probably benign Het
Pknox2 T C 9: 36,835,041 (GRCm39) I143V probably damaging Het
Polr1d A G 5: 147,015,488 (GRCm39) Y57C probably damaging Het
Pum3 A T 19: 27,376,336 (GRCm39) D527E probably benign Het
Rars2 T A 4: 34,654,819 (GRCm39) H374Q probably damaging Het
Rassf9 G A 10: 102,348,369 (GRCm39) probably benign Het
Rbl1 T A 2: 157,016,742 (GRCm39) H619L possibly damaging Het
Scamp4 T C 10: 80,448,238 (GRCm39) V153A probably benign Het
Sec23b T G 2: 144,420,286 (GRCm39) I450S probably benign Het
Slc35b2 A G 17: 45,877,910 (GRCm39) I297V probably benign Het
Slc4a4 C T 5: 89,327,525 (GRCm39) T654I probably damaging Het
Slc6a5 T A 7: 49,601,185 (GRCm39) M662K probably damaging Het
Smarcad1 T C 6: 65,071,321 (GRCm39) Y589H probably benign Het
Spata31d1e T C 13: 59,890,012 (GRCm39) T603A probably benign Het
Stab1 A T 14: 30,883,069 (GRCm39) F374I probably benign Het
Stat5a C T 11: 100,756,254 (GRCm39) T158M possibly damaging Het
Trpc3 A T 3: 36,675,503 (GRCm39) Y878* probably null Het
Ubr1 T A 2: 120,765,765 (GRCm39) T491S probably benign Het
Ugt1a6a T A 1: 88,066,882 (GRCm39) Y229* probably null Het
Vmn1r225 G A 17: 20,722,911 (GRCm39) W117* probably null Het
Vmn1r225 A C 17: 20,722,912 (GRCm39) K118Q probably damaging Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r116 T C 17: 23,620,566 (GRCm39) S767P probably damaging Het
Wdr90 AGAC AGACGAC 17: 26,064,750 (GRCm39) probably benign Het
Ythdf3 C T 3: 16,258,659 (GRCm39) P280S probably damaging Het
Zbbx A G 3: 75,019,390 (GRCm39) S107P probably benign Het
Zdhhc7 A T 8: 120,813,425 (GRCm39) V128E probably benign Het
Zfp235 A G 7: 23,841,551 (GRCm39) S657G probably damaging Het
Zfp442 T A 2: 150,251,615 (GRCm39) I96F possibly damaging Het
Zfp84 G A 7: 29,476,297 (GRCm39) E330K 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
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
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
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'- GCCAACGCTCAAATCCTTAG -3'
(R):5'- GACCGAAACCATTATTGTTCAAAGG -3'

Sequencing Primer
(F):5'- GGGTAACACAGTAAGACCCTGTTTC -3'
(R):5'- GGAGATCACAGATATCCCTCATC -3'
Posted On 2022-05-16