Incidental Mutation 'R0546:Uggt1'
ID 44802
Institutional Source Beutler Lab
Gene Symbol Uggt1
Ensembl Gene ENSMUSG00000037470
Gene Name UDP-glucose glycoprotein glucosyltransferase 1
Synonyms C820010P03Rik, 0910001L17Rik, Ugcgl1, A930007H10Rik
MMRRC Submission 038738-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.470) question?
Stock # R0546 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 36179109-36283407 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 36235052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 419 (R419H)
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: R419H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000037930
Gene: ENSMUSG00000037470
AA Change: R419H

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 noncoding transcript
Transcript: ENSMUST00000172592
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 99% (74/75)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,077,076 (GRCm39) probably null Het
Actn1 C T 12: 80,225,208 (GRCm39) R418Q probably benign Het
Adam39 G A 8: 41,279,468 (GRCm39) V620M probably damaging Het
Agr3 C A 12: 35,978,329 (GRCm39) T14K probably benign Het
Alpk2 T C 18: 65,439,788 (GRCm39) D1002G probably benign Het
Amz2 T A 11: 109,324,780 (GRCm39) N221K probably benign Het
Aox4 A G 1: 58,289,333 (GRCm39) E752G probably damaging Het
Ap2a1 C T 7: 44,554,132 (GRCm39) G500S probably damaging Het
Car5b G A X: 162,762,297 (GRCm39) R282C probably damaging Het
Ccdc112 A G 18: 46,424,139 (GRCm39) S200P possibly damaging Het
Ccdc18 A T 5: 108,322,830 (GRCm39) E643D probably benign Het
Ccdc180 A T 4: 45,904,597 (GRCm39) T398S possibly damaging Het
Cnp A G 11: 100,471,549 (GRCm39) Y397C probably damaging Het
Cpa4 T C 6: 30,580,962 (GRCm39) W184R probably damaging Het
Crebbp A T 16: 3,903,671 (GRCm39) I1856N probably damaging Het
Ctrl A G 8: 106,658,966 (GRCm39) I200T probably damaging Het
Cyfip1 C T 7: 55,572,564 (GRCm39) R934* probably null Het
Dennd5a A G 7: 109,520,633 (GRCm39) V408A probably benign Het
Dhfr G A 13: 92,504,692 (GRCm39) probably null Het
Dnajc6 A T 4: 101,492,388 (GRCm39) N740Y probably damaging Het
Fam110a T C 2: 151,812,732 (GRCm39) T13A probably benign Het
Fars2 G T 13: 36,388,569 (GRCm39) K19N probably benign Het
Fer1l6 A T 15: 58,430,257 (GRCm39) probably null Het
Gabra1 T A 11: 42,053,428 (GRCm39) T69S probably damaging Het
Galnt18 T G 7: 111,107,348 (GRCm39) N475T probably damaging Het
Gbp4 T C 5: 105,268,836 (GRCm39) Y439C probably damaging Het
Gpatch2l A G 12: 86,335,622 (GRCm39) *409W probably null Het
Hip1r T C 5: 124,137,114 (GRCm39) V658A possibly damaging Het
Hspg2 A G 4: 137,229,605 (GRCm39) D73G probably benign Het
Ifitm2 A G 7: 140,535,656 (GRCm39) V58A possibly damaging Het
Ift172 T C 5: 31,414,945 (GRCm39) D1359G probably benign Het
Ing1 A G 8: 11,607,031 (GRCm39) D41G probably damaging Het
Itgal C T 7: 126,909,486 (GRCm39) T446I probably benign Het
Itgav G T 2: 83,633,586 (GRCm39) M978I probably benign Het
Jazf1 A G 6: 52,754,681 (GRCm39) Y132H possibly damaging Het
Lgr4 T A 2: 109,829,766 (GRCm39) N211K probably damaging Het
Mgat4d A G 8: 84,082,350 (GRCm39) N100S possibly damaging Het
Mrgprb3 T C 7: 48,293,263 (GRCm39) Y96C probably damaging Het
Myh11 A C 16: 14,023,492 (GRCm39) L1562R probably damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Myo15a A G 11: 60,397,139 (GRCm39) Y2667C probably damaging Het
Or14j7 T A 17: 38,235,229 (GRCm39) C257* probably null Het
Or52ae7 A G 7: 103,119,907 (GRCm39) I220M possibly damaging Het
Or6c70 G A 10: 129,710,407 (GRCm39) T73I possibly damaging Het
Or8k37 T A 2: 86,469,573 (GRCm39) T160S possibly damaging Het
Or8k38 C T 2: 86,488,235 (GRCm39) C189Y possibly damaging Het
Or9m2 T A 2: 87,820,816 (GRCm39) Y120* probably null Het
Paox G T 7: 139,711,591 (GRCm39) G148W probably damaging Het
Pkd1 T C 17: 24,799,112 (GRCm39) V2777A probably benign Het
Plod2 T A 9: 92,477,388 (GRCm39) V360E probably damaging Het
Prune2 T C 19: 16,998,030 (GRCm39) probably benign Het
Sbds G T 5: 130,282,919 (GRCm39) A3D possibly damaging Het
Sec23a T C 12: 59,031,953 (GRCm39) T426A probably benign Het
Sec31a T C 5: 100,551,929 (GRCm39) Y148C probably damaging Het
Shprh T A 10: 11,059,631 (GRCm39) probably benign Het
Slc16a7 A G 10: 125,066,742 (GRCm39) V299A probably benign Het
Smg8 T C 11: 86,974,439 (GRCm39) Y174C possibly damaging Het
Snx22 T A 9: 65,976,059 (GRCm39) Y58F probably damaging Het
Snx25 A G 8: 46,556,667 (GRCm39) Y308H probably benign Het
St3gal2 A G 8: 111,696,738 (GRCm39) probably null Het
Stab1 C T 14: 30,861,507 (GRCm39) R2500H possibly damaging Het
Steap4 T C 5: 8,025,870 (GRCm39) S144P probably damaging Het
Stfa3 T A 16: 36,272,619 (GRCm39) probably benign Het
Tmprss9 C A 10: 80,735,157 (GRCm39) Q1095K probably benign Het
Top2a A G 11: 98,890,052 (GRCm39) V1217A possibly damaging Het
Trhr2 A G 8: 123,085,228 (GRCm39) probably null Het
Trim7 A G 11: 48,736,336 (GRCm39) E23G probably damaging Het
Trpv3 A T 11: 73,188,013 (GRCm39) E788V probably damaging Het
Ttn A G 2: 76,575,863 (GRCm39) I25010T probably damaging Het
Ube2ql1 T C 13: 69,887,419 (GRCm39) H14R unknown Het
Xpo4 A G 14: 57,850,731 (GRCm39) V391A probably benign Het
Zfhx3 A G 8: 109,520,819 (GRCm39) D647G probably damaging Het
Zfp354c A T 11: 50,706,457 (GRCm39) M206K probably benign Het
Zfp804a A G 2: 82,089,264 (GRCm39) N1031S possibly damaging Het
Zfp868 A G 8: 70,064,882 (GRCm39) V151A 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
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
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'- TGTAAAGTGCCTGACCAGAATGCC -3'
(R):5'- GAGATGCTCTGCATGTCCACTGAG -3'

Sequencing Primer
(F):5'- TGCCTCATGACCACTCAGAATG -3'
(R):5'- ATGAAGCCACTGACCTGC -3'
Posted On 2013-06-11