Incidental Mutation 'R1470:Uggt1'
ID 165745
Institutional Source Beutler Lab
Gene Symbol Uggt1
Ensembl Gene ENSMUSG00000037470
Gene Name UDP-glucose glycoprotein glucosyltransferase 1
Synonyms Ugcgl1, C820010P03Rik, A930007H10Rik, 0910001L17Rik
MMRRC Submission 039523-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.554) question?
Stock # R1470 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 36140027-36244720 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36176796 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 130 (M130K)
Ref Sequence ENSEMBL: ENSMUSP00000134078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046875] [ENSMUST00000173166] [ENSMUST00000174266]
AlphaFold Q6P5E4
Predicted Effect probably benign
Transcript: ENSMUST00000046875
AA Change: M747K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000037930
Gene: ENSMUSG00000037470
AA Change: M747K

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: ENSMUST00000173166
AA Change: M130K

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174716
Meta Mutation Damage Score 0.1819 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 98.4%
  • 10x: 90.6%
  • 20x: 68.6%
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: 123 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,998,331 (GRCm38) M3060T probably benign Het
Aak1 T A 6: 86,967,355 (GRCm38) S749T unknown Het
Abcb4 A T 5: 8,940,968 (GRCm38) I843F probably damaging Het
Actr8 T A 14: 29,986,969 (GRCm38) H244Q possibly damaging Het
Adgrv1 A G 13: 81,382,298 (GRCm38) Y5886H probably benign Het
Agk T A 6: 40,386,817 (GRCm38) W244R probably damaging Het
Ankrd11 C A 8: 122,899,724 (GRCm38) V161L probably damaging Het
Arap3 T C 18: 37,989,196 (GRCm38) probably null Het
Armc3 A G 2: 19,238,736 (GRCm38) M88V probably benign Het
Atp13a5 G T 16: 29,349,015 (GRCm38) P109T probably benign Het
Avpr1b T A 1: 131,600,585 (GRCm38) V282D probably damaging Het
Baz2b T C 2: 59,978,546 (GRCm38) K120E possibly damaging Het
Cacng6 G A 7: 3,424,888 (GRCm38) C76Y probably damaging Het
Cactin G T 10: 81,323,151 (GRCm38) E279* probably null Het
Car9 A G 4: 43,510,222 (GRCm38) Y268C probably damaging Het
Ccdc146 T A 5: 21,319,566 (GRCm38) I263F probably damaging Het
Cdh16 T G 8: 104,618,371 (GRCm38) S429R probably benign Het
Cep250 A G 2: 155,991,075 (GRCm38) E1639G probably damaging Het
Ces1d A T 8: 93,195,021 (GRCm38) V38D possibly damaging Het
Chd1 A T 17: 15,726,283 (GRCm38) Q97L possibly damaging Het
Ciita G A 16: 10,514,468 (GRCm38) D898N possibly damaging Het
Clstn1 A G 4: 149,634,722 (GRCm38) N336S possibly damaging Het
Cntnap5a A G 1: 116,259,519 (GRCm38) D607G probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm38) probably benign Het
Col20a1 C T 2: 180,994,960 (GRCm38) H245Y probably benign Het
Coq8b A T 7: 27,252,309 (GRCm38) T399S probably benign Het
Cpn2 A G 16: 30,260,185 (GRCm38) S233P probably benign Het
Cryz G A 3: 154,606,476 (GRCm38) G70D probably damaging Het
Def6 T A 17: 28,225,982 (GRCm38) D451E possibly damaging Het
Dnah8 T A 17: 30,747,277 (GRCm38) C2480* probably null Het
Dnah9 T C 11: 65,927,822 (GRCm38) N3230S probably benign Het
Dyrk4 G T 6: 126,916,374 (GRCm38) S15* probably null Het
Erc1 T C 6: 119,694,602 (GRCm38) R917G probably damaging Het
Frem3 G T 8: 80,611,191 (GRCm38) V38L probably benign Het
Gas2l3 T C 10: 89,413,934 (GRCm38) I441V probably benign Het
Gm14393 T A 2: 175,063,981 (GRCm38) Y6F probably damaging Het
Gm1527 A G 3: 28,915,268 (GRCm38) K256E possibly damaging Het
Gm21905 G T 5: 67,946,397 (GRCm38) probably benign Het
Gtf2ird1 T A 5: 134,395,802 (GRCm38) probably null Het
Hmces C A 6: 87,936,139 (GRCm38) T292K probably benign Het
Hpse2 G A 19: 43,388,253 (GRCm38) S20L probably benign Het
Ikbke A T 1: 131,276,487 (GRCm38) V23E probably null Het
Ino80 A T 2: 119,379,649 (GRCm38) V1387E probably damaging Het
Islr G T 9: 58,157,306 (GRCm38) A306D probably damaging Het
Jakmip1 G A 5: 37,100,838 (GRCm38) G276D probably damaging Het
Jchain A G 5: 88,526,120 (GRCm38) V55A probably benign Het
Kalrn T C 16: 34,187,471 (GRCm38) K1350E probably damaging Het
Kansl1l T C 1: 66,801,997 (GRCm38) Q48R possibly damaging Het
Kmt5a T C 5: 124,447,271 (GRCm38) L23P probably damaging Het
Lrba C T 3: 86,737,142 (GRCm38) H381Y probably damaging Het
Lrrc32 T C 7: 98,499,357 (GRCm38) V448A probably benign Het
Mapkbp1 T C 2: 120,017,820 (GRCm38) M617T probably damaging Het
Mfap1a T C 2: 121,502,801 (GRCm38) M50V probably benign Het
Mgam G T 6: 40,759,128 (GRCm38) A854S probably damaging Het
Myo18b C A 5: 112,693,033 (GRCm38) R2298L probably damaging Het
Myo1h T A 5: 114,319,704 (GRCm38) M92K probably damaging Het
Nlrp2 T A 7: 5,300,951 (GRCm38) T192S probably benign Het
Nr2f1 A T 13: 78,198,165 (GRCm38) Y137N possibly damaging Het
Nup98 T A 7: 102,147,306 (GRCm38) D841V probably damaging Het
Nvl A G 1: 181,139,262 (GRCm38) V59A probably damaging Het
Ogdhl C A 14: 32,346,788 (GRCm38) N948K probably damaging Het
Olfr530 A G 7: 140,373,113 (GRCm38) S166P probably benign Het
Olfr538 A G 7: 140,574,749 (GRCm38) T199A probably benign Het
Olfr578 A C 7: 102,984,323 (GRCm38) Y280* probably null Het
Olfr743 T C 14: 50,533,702 (GRCm38) S97P possibly damaging Het
Osgin1 G A 8: 119,444,965 (GRCm38) R166H probably damaging Het
Palb2 A T 7: 122,107,523 (GRCm38) F741I probably benign Het
Palb2 G T 7: 122,107,524 (GRCm38) Y740* probably null Het
Parvb G A 15: 84,271,252 (GRCm38) G46D probably damaging Het
Parvb G A 15: 84,271,308 (GRCm38) D65N probably benign Het
Pcsk2 A T 2: 143,546,518 (GRCm38) K10* probably null Het
Pde3a C T 6: 141,466,206 (GRCm38) A502V probably benign Het
Pfas T C 11: 68,991,359 (GRCm38) I893V probably benign Het
Pla2g4a A T 1: 149,840,720 (GRCm38) D663E probably damaging Het
Prickle2 G A 6: 92,458,602 (GRCm38) P6L probably damaging Het
Prx T A 7: 27,517,601 (GRCm38) M648K probably benign Het
Ptpn21 T C 12: 98,688,476 (GRCm38) N744S probably benign Het
Ptprq C T 10: 107,718,574 (GRCm38) V97M probably damaging Het
Pvr T C 7: 19,918,624 (GRCm38) E122G possibly damaging Het
Racgap1 T C 15: 99,639,775 (GRCm38) K15E probably damaging Het
Rock1 C T 18: 10,136,091 (GRCm38) probably null Het
Rorc T A 3: 94,397,302 (GRCm38) Y331* probably null Het
Rpl37 T C 15: 5,118,614 (GRCm38) V91A probably benign Het
Rrp36 T A 17: 46,672,380 (GRCm38) K103* probably null Het
Ryr3 T A 2: 112,653,007 (GRCm38) M4142L probably benign Het
Sash1 A T 10: 8,789,593 (GRCm38) L125H probably damaging Het
Scn5a T C 9: 119,536,475 (GRCm38) M369V possibly damaging Het
Sfi1 C CT 11: 3,146,255 (GRCm38) probably null Het
Sfi1 TCGC TC 11: 3,146,254 (GRCm38) probably null Het
Siglec1 A T 2: 131,070,387 (GRCm38) N1678K probably benign Het
Slc15a5 A T 6: 138,072,994 (GRCm38) V141E probably benign Het
Slc8a3 A T 12: 81,199,710 (GRCm38) H856Q probably benign Het
Sptlc2 T A 12: 87,355,640 (GRCm38) M171L probably benign Het
Srcap T A 7: 127,559,727 (GRCm38) probably benign Het
St6gal2 A G 17: 55,490,943 (GRCm38) D310G probably damaging Het
Susd2 T A 10: 75,638,054 (GRCm38) D689V probably damaging Het
Suz12 A T 11: 80,019,732 (GRCm38) E303V possibly damaging Het
Taldo1 C A 7: 141,398,587 (GRCm38) T150K probably damaging Het
Tg T A 15: 66,849,463 (GRCm38) F274I possibly damaging Het
Tmem151b T C 17: 45,545,737 (GRCm38) D259G probably damaging Het
Tmem179 G T 12: 112,501,854 (GRCm38) H64Q probably benign Het
Tmem236 A G 2: 14,218,921 (GRCm38) T174A probably benign Het
Tnc A T 4: 63,966,574 (GRCm38) N1821K probably damaging Het
Tnfrsf11a A G 1: 105,825,048 (GRCm38) N261S probably damaging Het
Trank1 C A 9: 111,343,232 (GRCm38) F96L possibly damaging Het
Trim56 T A 5: 137,113,163 (GRCm38) I500F probably damaging Het
Ttc30b G T 2: 75,937,811 (GRCm38) S199R probably benign Het
Ttll5 A G 12: 85,879,394 (GRCm38) I321V possibly damaging Het
Ttn C A 2: 76,778,023 (GRCm38) W17852L probably damaging Het
Twnk G A 19: 45,009,381 (GRCm38) V450M probably damaging Het
Uba52 A G 8: 70,509,556 (GRCm38) I127T possibly damaging Het
Ubr4 T A 4: 139,421,226 (GRCm38) probably null Het
Ulk4 T A 9: 121,081,656 (GRCm38) T1101S probably benign Het
Urb1 A G 16: 90,752,014 (GRCm38) S2269P probably benign Het
Ush2a G T 1: 188,400,206 (GRCm38) R875L probably benign Het
Usp9y T A Y: 1,332,471 (GRCm38) H1624L probably benign Het
Vipr1 T C 9: 121,665,520 (GRCm38) L308S possibly damaging Het
Xdh T G 17: 73,891,112 (GRCm38) K1260T probably damaging Het
Yipf4 A G 17: 74,493,968 (GRCm38) I94V probably benign Het
Zfhx4 A G 3: 5,413,146 (GRCm38) *3582W probably null Het
Zfp58 T C 13: 67,492,025 (GRCm38) N116D possibly damaging Het
Zfp750 C A 11: 121,511,993 (GRCm38) R643L probably benign Het
Znfx1 A G 2: 167,042,587 (GRCm38) V51A possibly damaging Het
Other mutations in Uggt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Uggt1 APN 1 36,179,552 (GRCm38) splice site probably benign
IGL00817:Uggt1 APN 1 36,185,932 (GRCm38) missense probably benign 0.03
IGL01395:Uggt1 APN 1 36,155,077 (GRCm38) missense probably damaging 1.00
IGL01609:Uggt1 APN 1 36,182,474 (GRCm38) missense probably damaging 1.00
IGL01619:Uggt1 APN 1 36,161,694 (GRCm38) missense probably damaging 0.99
IGL02077:Uggt1 APN 1 36,176,794 (GRCm38) missense probably damaging 0.99
IGL02313:Uggt1 APN 1 36,184,484 (GRCm38) missense probably damaging 0.99
IGL02341:Uggt1 APN 1 36,164,519 (GRCm38) makesense probably null
IGL02346:Uggt1 APN 1 36,179,670 (GRCm38) missense probably benign 0.00
IGL02447:Uggt1 APN 1 36,150,142 (GRCm38) missense probably damaging 1.00
IGL02883:Uggt1 APN 1 36,177,615 (GRCm38) missense probably benign 0.03
IGL02930:Uggt1 APN 1 36,157,456 (GRCm38) missense probably benign 0.01
IGL03153:Uggt1 APN 1 36,202,818 (GRCm38) missense possibly damaging 0.94
IGL03162:Uggt1 APN 1 36,207,956 (GRCm38) missense probably damaging 1.00
IGL03170:Uggt1 APN 1 36,163,261 (GRCm38) missense probably damaging 1.00
IGL03266:Uggt1 APN 1 36,150,048 (GRCm38) missense probably damaging 1.00
K3955:Uggt1 UTSW 1 36,162,353 (GRCm38) missense probably benign 0.37
R0037:Uggt1 UTSW 1 36,185,932 (GRCm38) missense probably benign 0.03
R0037:Uggt1 UTSW 1 36,185,932 (GRCm38) missense probably benign 0.03
R0167:Uggt1 UTSW 1 36,170,197 (GRCm38) critical splice donor site probably null
R0373:Uggt1 UTSW 1 36,179,670 (GRCm38) missense probably benign 0.00
R0502:Uggt1 UTSW 1 36,159,946 (GRCm38) missense probably damaging 1.00
R0546:Uggt1 UTSW 1 36,195,971 (GRCm38) missense probably benign 0.00
R0610:Uggt1 UTSW 1 36,165,506 (GRCm38) splice site probably benign
R0671:Uggt1 UTSW 1 36,155,128 (GRCm38) missense probably damaging 1.00
R0760:Uggt1 UTSW 1 36,161,724 (GRCm38) missense possibly damaging 0.68
R0825:Uggt1 UTSW 1 36,158,143 (GRCm38) missense probably benign 0.01
R0827:Uggt1 UTSW 1 36,156,313 (GRCm38) critical splice acceptor site probably null
R0884:Uggt1 UTSW 1 36,175,078 (GRCm38) missense probably benign 0.00
R1112:Uggt1 UTSW 1 36,173,546 (GRCm38) missense possibly damaging 0.54
R1470:Uggt1 UTSW 1 36,176,796 (GRCm38) missense probably benign 0.13
R1592:Uggt1 UTSW 1 36,202,858 (GRCm38) missense probably benign 0.04
R1730:Uggt1 UTSW 1 36,221,261 (GRCm38) missense probably benign 0.05
R1923:Uggt1 UTSW 1 36,179,613 (GRCm38) missense probably damaging 0.99
R1970:Uggt1 UTSW 1 36,151,781 (GRCm38) missense probably damaging 1.00
R2086:Uggt1 UTSW 1 36,192,414 (GRCm38) missense probably null 1.00
R2829:Uggt1 UTSW 1 36,162,294 (GRCm38) missense probably benign 0.38
R3431:Uggt1 UTSW 1 36,210,059 (GRCm38) nonsense probably null
R3432:Uggt1 UTSW 1 36,210,059 (GRCm38) nonsense probably null
R3725:Uggt1 UTSW 1 36,182,507 (GRCm38) nonsense probably null
R3880:Uggt1 UTSW 1 36,176,804 (GRCm38) intron probably benign
R4052:Uggt1 UTSW 1 36,164,489 (GRCm38) missense probably damaging 0.98
R4133:Uggt1 UTSW 1 36,158,159 (GRCm38) missense probably damaging 1.00
R4489:Uggt1 UTSW 1 36,146,668 (GRCm38) nonsense probably null
R4570:Uggt1 UTSW 1 36,150,073 (GRCm38) missense probably damaging 1.00
R4866:Uggt1 UTSW 1 36,202,855 (GRCm38) nonsense probably null
R4895:Uggt1 UTSW 1 36,156,264 (GRCm38) missense probably damaging 1.00
R4900:Uggt1 UTSW 1 36,202,855 (GRCm38) nonsense probably null
R5372:Uggt1 UTSW 1 36,244,060 (GRCm38) splice site probably benign
R5385:Uggt1 UTSW 1 36,184,412 (GRCm38) missense probably damaging 1.00
R5652:Uggt1 UTSW 1 36,216,153 (GRCm38) nonsense probably null
R5694:Uggt1 UTSW 1 36,179,656 (GRCm38) missense probably damaging 1.00
R5732:Uggt1 UTSW 1 36,161,771 (GRCm38) splice site probably null
R5893:Uggt1 UTSW 1 36,227,628 (GRCm38) splice site probably null
R6191:Uggt1 UTSW 1 36,162,208 (GRCm38) missense probably damaging 0.98
R6247:Uggt1 UTSW 1 36,163,228 (GRCm38) missense probably damaging 1.00
R6259:Uggt1 UTSW 1 36,234,916 (GRCm38) missense probably benign 0.00
R6399:Uggt1 UTSW 1 36,163,366 (GRCm38) missense possibly damaging 0.90
R6439:Uggt1 UTSW 1 36,174,951 (GRCm38) missense possibly damaging 0.95
R6468:Uggt1 UTSW 1 36,173,450 (GRCm38) missense probably benign 0.00
R6788:Uggt1 UTSW 1 36,230,688 (GRCm38) missense probably benign 0.00
R7165:Uggt1 UTSW 1 36,155,107 (GRCm38) missense probably benign 0.41
R7255:Uggt1 UTSW 1 36,146,106 (GRCm38) missense probably damaging 1.00
R7273:Uggt1 UTSW 1 36,162,221 (GRCm38) missense probably damaging 0.99
R7469:Uggt1 UTSW 1 36,151,733 (GRCm38) missense probably damaging 1.00
R7490:Uggt1 UTSW 1 36,164,508 (GRCm38) missense probably benign 0.01
R7570:Uggt1 UTSW 1 36,185,838 (GRCm38) missense probably benign 0.09
R7612:Uggt1 UTSW 1 36,163,235 (GRCm38) missense probably damaging 0.99
R7759:Uggt1 UTSW 1 36,146,725 (GRCm38) missense possibly damaging 0.81
R7792:Uggt1 UTSW 1 36,207,984 (GRCm38) missense probably damaging 1.00
R7816:Uggt1 UTSW 1 36,163,315 (GRCm38) missense possibly damaging 0.95
R7858:Uggt1 UTSW 1 36,156,258 (GRCm38) missense probably damaging 1.00
R7887:Uggt1 UTSW 1 36,208,034 (GRCm38) missense probably damaging 0.99
R8040:Uggt1 UTSW 1 36,211,473 (GRCm38) missense possibly damaging 0.70
R8093:Uggt1 UTSW 1 36,227,485 (GRCm38) missense probably damaging 1.00
R8245:Uggt1 UTSW 1 36,165,564 (GRCm38) missense probably damaging 1.00
R8338:Uggt1 UTSW 1 36,227,521 (GRCm38) missense probably damaging 1.00
R8353:Uggt1 UTSW 1 36,170,296 (GRCm38) critical splice acceptor site probably null
R8442:Uggt1 UTSW 1 36,173,487 (GRCm38) missense probably damaging 0.99
R8519:Uggt1 UTSW 1 36,176,643 (GRCm38) splice site probably null
R8529:Uggt1 UTSW 1 36,184,432 (GRCm38) missense possibly damaging 0.85
R8730:Uggt1 UTSW 1 36,197,543 (GRCm38) critical splice donor site probably null
R8917:Uggt1 UTSW 1 36,146,654 (GRCm38) missense
R8947:Uggt1 UTSW 1 36,158,148 (GRCm38) missense probably benign 0.12
R9240:Uggt1 UTSW 1 36,182,615 (GRCm38) missense possibly damaging 0.50
R9248:Uggt1 UTSW 1 36,210,022 (GRCm38) missense possibly damaging 0.80
R9401:Uggt1 UTSW 1 36,216,131 (GRCm38) critical splice donor site probably null
R9414:Uggt1 UTSW 1 36,184,426 (GRCm38) missense probably benign 0.01
R9416:Uggt1 UTSW 1 36,164,522 (GRCm38) missense
R9441:Uggt1 UTSW 1 36,221,225 (GRCm38) missense probably benign 0.02
R9489:Uggt1 UTSW 1 36,234,805 (GRCm38) critical splice donor site probably null
R9563:Uggt1 UTSW 1 36,165,546 (GRCm38) missense possibly damaging 0.60
R9605:Uggt1 UTSW 1 36,234,805 (GRCm38) critical splice donor site probably null
X0022:Uggt1 UTSW 1 36,165,555 (GRCm38) missense possibly damaging 0.67
Z1088:Uggt1 UTSW 1 36,174,191 (GRCm38) missense probably damaging 1.00
Z1176:Uggt1 UTSW 1 36,161,695 (GRCm38) missense probably damaging 1.00
Z1177:Uggt1 UTSW 1 36,155,073 (GRCm38) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- TCCGAAGGGTCTGCAAACATTCAC -3'
(R):5'- AGCTTGCTGCTCTCCAAAGCAC -3'

Sequencing Primer
(F):5'- GTCTGCAAACATTCACATTGTTTATC -3'
(R):5'- GCTTATGCAATTAGTCCACTGTG -3'
Posted On 2014-03-28