Incidental Mutation 'R5893:Uggt1'
ID 457273
Institutional Source Beutler Lab
Gene Symbol Uggt1
Ensembl Gene ENSMUSG00000037470
Gene Name UDP-glucose glycoprotein glucosyltransferase 1
Synonyms C820010P03Rik, 0910001L17Rik, Ugcgl1, A930007H10Rik
MMRRC Submission 044094-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.470) question?
Stock # R5893 (G1)
Quality Score 216
Status Validated
Chromosome 1
Chromosomal Location 36179109-36283407 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 36266709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000037930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046875] [ENSMUST00000046875] [ENSMUST00000174266] [ENSMUST00000174266]
AlphaFold Q6P5E4
Predicted Effect probably null
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 probably null
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 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 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 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 95% (73/77)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 C T 4: 144,429,766 (GRCm39) V408I probably benign Het
Ablim1 T A 19: 57,204,285 (GRCm39) R35S probably benign Het
Acacb A T 5: 114,367,912 (GRCm39) I1637F probably benign Het
Adamts18 A T 8: 114,499,709 (GRCm39) C402S probably damaging Het
Adra2b T A 2: 127,206,402 (GRCm39) D306E probably benign Het
Ammecr1l C T 18: 31,911,973 (GRCm39) T263I probably damaging Het
Antxr1 T C 6: 87,114,241 (GRCm39) I509V probably benign Het
Bahcc1 A G 11: 120,176,256 (GRCm39) E1967G probably damaging Het
Brap T A 5: 121,817,405 (GRCm39) Y337* probably null Het
Brca2 T C 5: 150,492,603 (GRCm39) V3206A probably benign Het
Cacna1e A T 1: 154,313,069 (GRCm39) F1486I probably damaging Het
Cbx4 A G 11: 118,973,016 (GRCm39) Y120H probably damaging Het
Ccar2 T A 14: 70,388,800 (GRCm39) Q137L probably benign Het
Ceacam12 A G 7: 17,803,299 (GRCm39) D235G probably damaging Het
Celsr1 A G 15: 85,788,215 (GRCm39) V2679A probably benign Het
Champ1 C T 8: 13,928,777 (GRCm39) P312S probably benign Het
Chst5 A G 8: 112,616,828 (GRCm39) L264S probably damaging Het
Cip2a A G 16: 48,817,863 (GRCm39) S78G probably benign Het
Colec10 T A 15: 54,274,185 (GRCm39) F4L probably benign Het
Cyp2a4 G A 7: 26,008,353 (GRCm39) G165D probably damaging Het
Cyp2c29 G C 19: 39,318,833 (GRCm39) A438P possibly damaging Het
Dlat A G 9: 50,555,439 (GRCm39) probably benign Het
Dmxl2 A G 9: 54,294,704 (GRCm39) V2457A possibly damaging Het
Dnah7a A G 1: 53,496,944 (GRCm39) M3104T possibly damaging Het
Dock8 C T 19: 25,099,811 (GRCm39) H645Y probably damaging Het
Ehbp1l1 T C 19: 5,768,459 (GRCm39) E948G probably benign Het
Eps8l2 C T 7: 140,937,537 (GRCm39) R384C probably damaging Het
Fam174a A T 1: 95,252,884 (GRCm39) N162I probably damaging Het
Fbp2 T A 13: 62,984,916 (GRCm39) N335I probably benign Het
Foxred2 C A 15: 77,831,344 (GRCm39) G490C probably damaging Het
Fyttd1 T G 16: 32,719,283 (GRCm39) D200E probably damaging Het
Gdf15 A T 8: 71,082,473 (GRCm39) V211E possibly damaging Het
Gm6214 A G 3: 140,545,107 (GRCm39) noncoding transcript Het
Havcr2 A G 11: 46,347,143 (GRCm39) Y40C probably damaging Het
Htra1 T G 7: 130,563,321 (GRCm39) V184G probably damaging Het
Hydin A T 8: 111,217,308 (GRCm39) I1399F probably benign Het
Igtp T C 11: 58,097,474 (GRCm39) L215P probably damaging Het
Kctd1 T C 18: 15,102,745 (GRCm39) E812G possibly damaging Het
Lap3 T C 5: 45,668,621 (GRCm39) probably benign Het
Lgalsl2 A T 7: 5,362,623 (GRCm39) T85S probably benign Het
Lrp1b C A 2: 40,491,599 (GRCm39) A223S probably damaging Het
Mtnr1b A T 9: 15,774,540 (GRCm39) V173E probably damaging Het
Nat10 A C 2: 103,552,184 (GRCm39) probably benign Het
Ndfip2 T A 14: 105,532,291 (GRCm39) V229E probably damaging Het
Nefh G A 11: 4,891,323 (GRCm39) T432M probably damaging Het
Nfe2l3 A G 6: 51,434,832 (GRCm39) Y464C probably damaging Het
Nrip1 C A 16: 76,090,841 (GRCm39) A239S probably damaging Het
Olfml2b A G 1: 170,490,042 (GRCm39) S221G probably benign Het
Orc4 G T 2: 48,795,559 (GRCm39) S389* probably null Het
P4hb A G 11: 120,462,476 (GRCm39) S77P probably damaging Het
Pcyt2 T C 11: 120,508,623 (GRCm39) probably null Het
Plagl1 T C 10: 13,003,938 (GRCm39) probably benign Het
Poglut1 C T 16: 38,349,957 (GRCm39) R272Q probably damaging Het
Pramel26 T A 4: 143,537,038 (GRCm39) Y431F probably damaging Het
Rdh5 T C 10: 128,750,090 (GRCm39) probably null Het
Rogdi A T 16: 4,831,258 (GRCm39) L3* probably null Het
Skap1 T C 11: 96,472,224 (GRCm39) *166Q probably null Het
Slc38a4 A G 15: 96,897,432 (GRCm39) I461T probably benign Het
Snx31 A C 15: 36,523,601 (GRCm39) I360M probably damaging Het
Spata22 A T 11: 73,227,073 (GRCm39) K96* probably null Het
Strn3 A T 12: 51,690,006 (GRCm39) probably null Het
Trip12 A C 1: 84,736,884 (GRCm39) probably benign Het
Upk3a A C 15: 84,903,538 (GRCm39) D79A probably damaging Het
Uts2r A T 11: 121,052,105 (GRCm39) Y323F probably benign Het
Vmn2r1 A T 3: 63,993,974 (GRCm39) N107Y probably damaging Het
Vps13c A T 9: 67,810,121 (GRCm39) probably null Het
Wnt7b A G 15: 85,465,575 (GRCm39) probably benign Het
Zfp410 T A 12: 84,384,385 (GRCm39) probably null 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
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'- TCCCCTAGACACATGAGGTC -3'
(R):5'- AGGACTAGGTCATCTCGGTGAG -3'

Sequencing Primer
(F):5'- AGACACATGAGGTCTTCTTACC -3'
(R):5'- GTCCAGGAAGACAGCTTAACTCAG -3'
Posted On 2017-02-15