Incidental Mutation 'R0610:Uggt1'
ID 54579
Institutional Source Beutler Lab
Gene Symbol Uggt1
Ensembl Gene ENSMUSG00000037470
Gene Name UDP-glucose glycoprotein glucosyltransferase 1
Synonyms C820010P03Rik, 0910001L17Rik, Ugcgl1, A930007H10Rik
MMRRC Submission 038799-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.470) question?
Stock # R0610 (G1)
Quality Score 94
Status Validated
Chromosome 1
Chromosomal Location 36179109-36283407 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 36204587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046875] [ENSMUST00000173166] [ENSMUST00000174266]
AlphaFold Q6P5E4
Predicted Effect probably benign
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 noncoding transcript
Transcript: ENSMUST00000173082
Predicted Effect probably benign
Transcript: ENSMUST00000173166
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173999
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: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency 99% (97/98)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
4930578I06Rik G A 14: 64,223,714 (GRCm39) R21* probably null Het
Abca15 A G 7: 119,965,009 (GRCm39) E757G possibly damaging Het
Abca5 T C 11: 110,192,353 (GRCm39) T720A probably benign Het
Actr5 T A 2: 158,474,376 (GRCm39) probably null Het
Adgrl3 T C 5: 81,841,563 (GRCm39) probably benign Het
Adra1a A G 14: 66,875,241 (GRCm39) D72G probably damaging Het
Ahcyl T C 16: 45,974,264 (GRCm39) E371G probably damaging Het
Ahnak G T 19: 8,985,242 (GRCm39) L2175F probably benign Het
AK157302 A G 13: 21,679,833 (GRCm39) T120A possibly damaging Het
Apol7a G A 15: 77,273,454 (GRCm39) A336V probably benign Het
Asic1 C A 15: 99,596,780 (GRCm39) H525Q probably benign Het
Atxn7l2 T C 3: 108,112,090 (GRCm39) D335G possibly damaging Het
Bpgm G T 6: 34,481,284 (GRCm39) R227L possibly damaging Het
Calm4 T A 13: 3,888,320 (GRCm39) V142E possibly damaging Het
Catsperg1 A T 7: 28,890,044 (GRCm39) L721Q probably damaging Het
Cdh26 A G 2: 178,091,691 (GRCm39) I83M probably damaging Het
Cep295 A C 9: 15,234,050 (GRCm39) S2249A possibly damaging Het
Cfhr4 G A 1: 139,629,584 (GRCm39) T799I probably benign Het
Cln3 A G 7: 126,179,361 (GRCm39) F139L probably damaging Het
Cmpk2 T A 12: 26,528,055 (GRCm39) L424Q possibly damaging Het
Col12a1 A T 9: 79,615,130 (GRCm39) V53E probably benign Het
Csmd1 G A 8: 15,968,208 (GRCm39) R3140C possibly damaging Het
Dagla A G 19: 10,248,922 (GRCm39) W11R probably damaging Het
Dbx2 C T 15: 95,522,778 (GRCm39) V310M probably benign Het
Disp2 T A 2: 118,622,717 (GRCm39) C1150S probably benign Het
Dock3 T C 9: 106,900,987 (GRCm39) D326G probably damaging Het
Dph1 G T 11: 75,076,783 (GRCm39) probably benign Het
Dyrk1b C A 7: 27,886,059 (GRCm39) T594K probably damaging Het
Evx2 C A 2: 74,486,331 (GRCm39) A353S probably benign Het
Garin1b T A 6: 29,326,576 (GRCm39) V231E probably benign Het
Greb1 A C 12: 16,746,443 (GRCm39) S1276A probably benign Het
Hhipl1 T A 12: 108,285,661 (GRCm39) C490* probably null Het
Hmmr G T 11: 40,606,729 (GRCm39) T231K probably damaging Het
Hspa4l A C 3: 40,733,832 (GRCm39) E526D probably benign Het
Ibsp A G 5: 104,458,000 (GRCm39) E179G probably benign Het
Ift140 C T 17: 25,254,777 (GRCm39) A150V probably benign Het
Igf2bp2 A G 16: 21,889,059 (GRCm39) S416P probably benign Het
Ighe T C 12: 113,235,363 (GRCm39) K294E unknown Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kng2 T A 16: 22,819,344 (GRCm39) N231Y possibly damaging Het
Lca5 A T 9: 83,281,792 (GRCm39) C331S probably benign Het
Lrrc1 A G 9: 77,379,488 (GRCm39) I101T possibly damaging Het
Lrrk2 A T 15: 91,699,619 (GRCm39) I2489L probably benign Het
Lyz3 A G 10: 117,073,635 (GRCm39) F66S probably benign Het
Mapk9 A C 11: 49,754,400 (GRCm39) N51T probably benign Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Nek2 T A 1: 191,554,627 (GRCm39) V113D probably damaging Het
Nr4a3 C A 4: 48,051,903 (GRCm39) A248E probably benign Het
Nrp1 T C 8: 129,229,099 (GRCm39) I859T probably damaging Het
Olfm5 A T 7: 103,803,652 (GRCm39) Y195* probably null Het
Or13j1 T A 4: 43,706,400 (GRCm39) H56L possibly damaging Het
Or1n2 T A 2: 36,797,671 (GRCm39) W238R probably damaging Het
Or8g35 A G 9: 39,381,119 (GRCm39) L301P probably damaging Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pcnx2 A G 8: 126,566,426 (GRCm39) W1006R probably damaging Het
Pdpk1 T C 17: 24,317,145 (GRCm39) probably null Het
Ryr2 T A 13: 11,637,838 (GRCm39) H3731L probably damaging Het
Sdr16c5 T G 4: 4,016,116 (GRCm39) E103D possibly damaging Het
Setdb2 A C 14: 59,654,919 (GRCm39) S324A possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc17a8 A T 10: 89,412,488 (GRCm39) I499K probably damaging Het
Slc2a9 T A 5: 38,537,285 (GRCm39) I389F probably damaging Het
Slc30a1 T C 1: 191,641,536 (GRCm39) V394A probably damaging Het
Slc41a2 A G 10: 83,119,592 (GRCm39) I390T possibly damaging Het
Slco1a1 A G 6: 141,864,187 (GRCm39) probably null Het
Slit2 A G 5: 48,433,016 (GRCm39) K1053E possibly damaging Het
Smarca2 T A 19: 26,668,791 (GRCm39) L930Q probably damaging Het
Snx6 T C 12: 54,798,574 (GRCm39) H387R probably damaging Het
Sox5 A T 6: 143,779,165 (GRCm39) M622K possibly damaging Het
Ston1 C A 17: 88,942,709 (GRCm39) N38K possibly damaging Het
Strbp C T 2: 37,474,089 (GRCm39) V658I probably damaging Het
Strn3 T C 12: 51,657,231 (GRCm39) probably null Het
Suco T G 1: 161,687,072 (GRCm39) D96A probably benign Het
Suco A G 1: 161,691,601 (GRCm39) probably benign Het
Sytl2 A T 7: 90,030,061 (GRCm39) probably benign Het
Tmem41b T A 7: 109,580,290 (GRCm39) M25L probably benign Het
Tmem41b T A 7: 109,580,292 (GRCm39) D91V probably damaging Het
Tmem50b C T 16: 91,380,174 (GRCm39) A68T probably damaging Het
Tmprss11e G A 5: 86,855,206 (GRCm39) Q400* probably null Het
Tnfsf13b G A 8: 10,081,661 (GRCm39) probably null Het
Trappc8 A G 18: 20,970,245 (GRCm39) V916A probably damaging Het
Trdn G T 10: 33,350,449 (GRCm39) V673F probably damaging Het
Trim28 G T 7: 12,759,711 (GRCm39) probably benign Het
Txnrd2 T C 16: 18,291,632 (GRCm39) V427A probably damaging Het
Vmn1r36 A G 6: 66,693,404 (GRCm39) L51P probably damaging Het
Vmn1r63 T A 7: 5,806,063 (GRCm39) M190L possibly damaging Het
Vmn2r116 T A 17: 23,606,286 (GRCm39) N399K probably damaging Het
Vmn2r117 T C 17: 23,694,488 (GRCm39) N453S probably benign Het
Wbp1l T A 19: 46,643,109 (GRCm39) I370N probably damaging Het
Zfp445 T C 9: 122,682,046 (GRCm39) K632E probably benign Het
Zfp850 C T 7: 27,688,819 (GRCm39) R463H probably damaging Het
Zyg11a A G 4: 108,062,054 (GRCm39) L249P 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
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'- CAAGAGCTTGCTGCTTCAGTTCAC -3'
(R):5'- CGATCCCTCGTGTTCAAGGATTTGC -3'

Sequencing Primer
(F):5'- acacacacacacacccc -3'
(R):5'- GTGCAATTAAGCTGAAGCCC -3'
Posted On 2013-07-11