Incidental Mutation 'R6259:Uggt1'
ID 506517
Institutional Source Beutler Lab
Gene Symbol Uggt1
Ensembl Gene ENSMUSG00000037470
Gene Name UDP-glucose glycoprotein glucosyltransferase 1
Synonyms C820010P03Rik, 0910001L17Rik, Ugcgl1, A930007H10Rik
MMRRC Submission 044376-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.470) question?
Stock # R6259 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 36179109-36283407 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36273997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 29 (I29V)
Ref Sequence ENSEMBL: ENSMUSP00000134640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046875] [ENSMUST00000174266]
AlphaFold Q6P5E4
Predicted Effect probably benign
Transcript: ENSMUST00000046875
AA Change: I29V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037930
Gene: ENSMUSG00000037470
AA Change: I29V

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
AA Change: I29V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134640
Gene: ENSMUSG00000037470
AA Change: I29V

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik C A 12: 18,584,120 (GRCm39) N393K probably benign Het
Acap3 A T 4: 155,980,575 (GRCm39) I19F possibly damaging Het
Acsbg3 A G 17: 57,184,513 (GRCm39) Y96C probably benign Het
Adamts5 C T 16: 85,696,641 (GRCm39) R172H probably benign Het
Adgra3 A G 5: 50,156,483 (GRCm39) F416L possibly damaging Het
Amy1 T C 3: 113,363,059 (GRCm39) D96G possibly damaging Het
Ank2 A G 3: 126,810,635 (GRCm39) S484P probably benign Het
Arsa A G 15: 89,359,724 (GRCm39) C68R probably damaging Het
Asprv1 A G 6: 86,605,361 (GRCm39) Y69C probably benign Het
Ass1 A G 2: 31,378,654 (GRCm39) E162G possibly damaging Het
Atf7 G T 15: 102,455,673 (GRCm39) N230K probably damaging Het
Atp10b A G 11: 43,092,065 (GRCm39) M367V probably benign Het
Atp11b A G 3: 35,861,050 (GRCm39) Y179C probably damaging Het
BC004004 A T 17: 29,517,686 (GRCm39) Q300L possibly damaging Het
Bglap3 A T 3: 88,276,067 (GRCm39) I95N probably damaging Het
Cacna1h T C 17: 25,616,630 (GRCm39) probably null Het
Caskin2 C T 11: 115,691,279 (GRCm39) G1141D probably damaging Het
Clcn4 G A 7: 7,294,529 (GRCm39) R351W possibly damaging Het
Col11a1 T C 3: 113,932,096 (GRCm39) C89R probably benign Het
Csrp1 T G 1: 135,667,252 (GRCm39) probably null Het
Cwf19l2 T C 9: 3,458,879 (GRCm39) I776T probably damaging Het
Cyp2b19 A T 7: 26,470,817 (GRCm39) Q486L possibly damaging Het
Cyp2j9 T A 4: 96,472,243 (GRCm39) Y165F probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dennd1c G A 17: 57,374,104 (GRCm39) R522C probably damaging Het
Dmgdh T C 13: 93,888,816 (GRCm39) V818A probably benign Het
Dst T A 1: 34,221,477 (GRCm39) V2427E probably benign Het
Duox1 C T 2: 122,175,264 (GRCm39) T1354M probably benign Het
Ehbp1 A G 11: 22,235,684 (GRCm39) probably benign Het
Epc2 T A 2: 49,378,866 (GRCm39) probably null Het
Eya2 T C 2: 165,558,019 (GRCm39) V205A probably benign Het
Fat4 A G 3: 39,061,395 (GRCm39) H4326R probably benign Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Gm10100 G T 10: 77,562,498 (GRCm39) C60F possibly damaging Het
Hhip T A 8: 80,699,033 (GRCm39) R678W probably damaging Het
Il21r T A 7: 125,229,891 (GRCm39) I266K possibly damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kif26b T C 1: 178,744,970 (GRCm39) S1689P probably damaging Het
L3mbtl2 A G 15: 81,566,128 (GRCm39) E317G probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lratd1 T A 12: 14,200,646 (GRCm39) D27V probably damaging Het
Lrr1 A G 12: 69,221,589 (GRCm39) N244D probably damaging Het
Lrrk2 A T 15: 91,586,450 (GRCm39) H422L probably benign Het
Map4k5 A G 12: 69,899,514 (GRCm39) S46P probably damaging Het
Ngf A G 3: 102,417,113 (GRCm39) probably benign Het
Nploc4 T C 11: 120,276,691 (GRCm39) I452V probably benign Het
Oas1d T A 5: 121,057,244 (GRCm39) Y283* probably null Het
Or52h1 A T 7: 103,829,261 (GRCm39) M118K possibly damaging Het
Or56b35 A T 7: 104,963,264 (GRCm39) I18F probably benign Het
Or5b109 A G 19: 13,211,785 (GRCm39) H57R probably damaging Het
Or5l13 T C 2: 87,779,779 (GRCm39) N266S probably benign Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Peg3 A G 7: 6,712,810 (GRCm39) V804A probably damaging Het
Piezo2 T A 18: 63,250,749 (GRCm39) Y450F possibly damaging Het
Pprc1 T A 19: 46,052,849 (GRCm39) V789E probably damaging Het
Prcc A G 3: 87,769,454 (GRCm39) M436T possibly damaging Het
Prepl A T 17: 85,377,859 (GRCm39) V507D probably damaging Het
Rag1 T A 2: 101,474,797 (GRCm39) N115I possibly damaging Het
Rap1gap T C 4: 137,409,068 (GRCm39) probably null Het
Reln A C 5: 22,265,331 (GRCm39) F454V probably damaging Het
Slc39a11 A T 11: 113,354,780 (GRCm39) S150T probably benign Het
Slc45a1 T A 4: 150,722,817 (GRCm39) I356F possibly damaging Het
Snrnp200 G A 2: 127,060,343 (GRCm39) G529D possibly damaging Het
Stkld1 A T 2: 26,839,393 (GRCm39) D353V possibly damaging Het
Susd2 T C 10: 75,473,880 (GRCm39) S572G probably damaging Het
Synrg T A 11: 83,899,484 (GRCm39) D563E probably damaging Het
Tmem131 C T 1: 36,858,209 (GRCm39) V713I probably benign Het
Tnfrsf8 A G 4: 145,004,094 (GRCm39) probably null Het
Trim26 C T 17: 37,167,110 (GRCm39) A267V probably benign Het
Trpm1 T G 7: 63,918,226 (GRCm39) F522C possibly damaging Het
Unc5d C T 8: 29,156,820 (GRCm39) M808I probably benign Het
Vmn2r108 T A 17: 20,683,371 (GRCm39) D611V possibly damaging Het
Vps13a A C 19: 16,664,534 (GRCm39) Y1436* probably null Het
Wdfy3 C T 5: 102,020,831 (GRCm39) R2491Q possibly damaging Het
Zfp518a G T 19: 40,901,225 (GRCm39) V385F probably benign Het
Zfp541 C T 7: 15,829,451 (GRCm39) A1222V probably benign Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) 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
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'- TACGGACAGTTAACACATGCG -3'
(R):5'- TGACCAGCCAGCTTTAACTCC -3'

Sequencing Primer
(F):5'- CATGCGAATGAACAGAGTGTCCTTC -3'
(R):5'- AGCCAGCTTTAACTCCCGATTTTC -3'
Posted On 2018-03-15