Incidental Mutation 'R9240:Uggt1'
ID 700660
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 # R9240 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 36179109-36283407 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36221696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 624 (E624G)
Ref Sequence ENSEMBL: ENSMUSP00000037930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046875] [ENSMUST00000173166] [ENSMUST00000174266]
AlphaFold Q6P5E4
Predicted Effect possibly damaging
Transcript: ENSMUST00000046875
AA Change: E624G

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000037930
Gene: ENSMUSG00000037470
AA Change: E624G

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 possibly damaging
Transcript: ENSMUST00000173166
AA Change: E7G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.6%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 A G 8: 46,966,406 (GRCm39) I187V probably benign Het
Adam7 C A 14: 68,747,208 (GRCm39) V584L probably benign Het
Arsg T A 11: 109,463,093 (GRCm39) V451E probably benign Het
Btbd8 A G 5: 107,600,034 (GRCm39) D175G probably benign Het
Cacnb3 C T 15: 98,540,486 (GRCm39) P338L probably benign Het
Cars1 G T 7: 143,138,533 (GRCm39) P218Q probably benign Het
Ccdc180 T C 4: 45,917,566 (GRCm39) probably null Het
Cdh23 C T 10: 60,215,044 (GRCm39) D1431N probably benign Het
Cenpf A T 1: 189,389,167 (GRCm39) V1555D probably benign Het
Creb3l2 T C 6: 37,311,506 (GRCm39) N428D possibly damaging Het
Crebbp A T 16: 3,917,537 (GRCm39) probably null Het
Cstf1 C A 2: 172,217,669 (GRCm39) P94Q probably damaging Het
Dis3l A G 9: 64,217,447 (GRCm39) probably null Het
Dlc1 A T 8: 37,052,005 (GRCm39) D124E probably benign Het
Dpysl3 C T 18: 43,487,867 (GRCm39) V159I probably benign Het
Eea1 T G 10: 95,776,824 (GRCm39) I5S probably benign Het
F7 A T 8: 13,085,173 (GRCm39) T400S probably damaging Het
Fbxo38 C A 18: 62,651,632 (GRCm39) E558* probably null Het
Fcgr2b C T 1: 170,797,042 (GRCm39) probably null Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Flt1 T C 5: 147,618,676 (GRCm39) N220D probably benign Het
Fzd9 A G 5: 135,278,812 (GRCm39) Y358H probably damaging Het
Gcc2 C T 10: 58,106,398 (GRCm39) Q545* probably null Het
Gkn3 T C 6: 87,365,789 (GRCm39) N10S probably benign Het
Gls C G 1: 52,207,553 (GRCm39) V604L probably benign Het
Gtf2i T A 5: 134,292,619 (GRCm39) Q375L probably benign Het
Hells A G 19: 38,935,289 (GRCm39) M320V possibly damaging Het
Ints3 T C 3: 90,310,410 (GRCm39) S497G possibly damaging Het
Iqub C A 6: 24,505,622 (GRCm39) L95F probably benign Het
Mat1a G A 14: 40,827,573 (GRCm39) C9Y probably benign Het
Mfsd4b5 A G 10: 39,851,099 (GRCm39) L103P probably damaging Het
Ms4a14 T C 19: 11,281,864 (GRCm39) I231M possibly damaging Het
Muc16 T C 9: 18,449,309 (GRCm39) T7580A unknown Het
Myb A T 10: 21,016,500 (GRCm39) L670Q probably damaging Het
Nisch A G 14: 30,906,988 (GRCm39) L236P unknown Het
Or5d38 A C 2: 87,955,231 (GRCm39) F33V probably benign Het
Plscr4 A T 9: 92,366,934 (GRCm39) M183L probably benign Het
Polr1a T A 6: 71,940,661 (GRCm39) C998* probably null Het
Prokr2 A T 2: 132,223,377 (GRCm39) V55E possibly damaging Het
Prr12 A T 7: 44,684,075 (GRCm39) V1655E probably damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,119 (GRCm39) probably benign Het
Rspo1 C T 4: 124,885,132 (GRCm39) L3F probably benign Het
Rtn4rl1 C A 11: 75,156,082 (GRCm39) D171E probably damaging Het
Ryr1 A G 7: 28,743,313 (GRCm39) F3895L probably damaging Het
Scn8a G T 15: 100,915,068 (GRCm39) G1211* probably null Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Smarcd3 T A 5: 24,801,831 (GRCm39) M103L probably benign Het
Smg1 A T 7: 117,739,031 (GRCm39) S3458T probably benign Het
Smg6 C T 11: 74,825,884 (GRCm39) R738W probably damaging Het
Spef2 G A 15: 9,578,401 (GRCm39) Q1708* probably null Het
Taf2 A T 15: 54,926,464 (GRCm39) V162E probably null Het
Tbc1d23 A T 16: 57,032,748 (GRCm39) N154K possibly damaging Het
Tbx3 A G 5: 119,818,960 (GRCm39) S532G probably benign Het
Tedc1 T C 12: 113,121,310 (GRCm39) I177T probably benign Het
Tnrc6b G C 15: 80,764,262 (GRCm39) G588A probably damaging Het
Top2a T A 11: 98,901,368 (GRCm39) K519* probably null Het
Trim47 T A 11: 115,999,148 (GRCm39) M243L probably benign Het
Ttn A T 2: 76,641,865 (GRCm39) probably null Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r9 A G 5: 108,996,099 (GRCm39) V183A possibly damaging Het
Zfp212 T A 6: 47,906,032 (GRCm39) V197E 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
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
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'- TTTCAAAGCTCATGTGAGAATATCA -3'
(R):5'- AGAAGGCTTCCCTACCACTT -3'

Sequencing Primer
(F):5'- ACTCACCAAGTACACAGCTCTTTGG -3'
(R):5'- AGTTCTAGGTAGTGAGCCACC -3'
Posted On 2022-02-07