Incidental Mutation 'R3431:Uggt1'
ID 268100
Institutional Source Beutler Lab
Gene Symbol Uggt1
Ensembl Gene ENSMUSG00000037470
Gene Name UDP-glucose glycoprotein glucosyltransferase 1
Synonyms C820010P03Rik, 0910001L17Rik, Ugcgl1, A930007H10Rik
MMRRC Submission 040649-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.470) question?
Stock # R3431 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 36179109-36283407 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 36249140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 267 (E267*)
Ref Sequence ENSEMBL: ENSMUSP00000037930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046875] [ENSMUST00000174266]
AlphaFold Q6P5E4
Predicted Effect probably null
Transcript: ENSMUST00000046875
AA Change: E267*
SMART Domains Protein: ENSMUSP00000037930
Gene: ENSMUSG00000037470
AA Change: E267*

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: ENSMUST00000172592
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 silent
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (41/41)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A G 5: 35,746,560 (GRCm39) H140R possibly damaging Het
Adamts3 A G 5: 89,855,312 (GRCm39) probably benign Het
Apob T G 12: 8,060,778 (GRCm39) F3054V probably damaging Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Calcb A T 7: 114,319,064 (GRCm39) R30W probably damaging Het
Cbl T C 9: 44,062,743 (GRCm39) *914W probably null Het
Chd4 A G 6: 125,097,523 (GRCm39) probably benign Het
Clec4a2 A T 6: 123,116,370 (GRCm39) probably null Het
Crb2 T A 2: 37,682,229 (GRCm39) V870E probably benign Het
Cyp2c39 A G 19: 39,525,306 (GRCm39) E203G probably damaging Het
Dhrs7 A T 12: 72,711,501 (GRCm39) L12Q probably damaging Het
Dnah5 A G 15: 28,295,413 (GRCm39) Y1382C probably benign Het
Efs C T 14: 55,157,681 (GRCm39) R117Q probably damaging Het
Evl T C 12: 108,614,567 (GRCm39) probably benign Het
Fbxo16 T C 14: 65,531,233 (GRCm39) F46L probably damaging Het
Fsip2 A G 2: 82,822,354 (GRCm39) E6029G possibly damaging Het
Gm20775 A T Y: 10,641,956 (GRCm39) noncoding transcript Het
Gm4924 T A 10: 82,214,864 (GRCm39) Y887* probably null Het
H60c G T 10: 3,210,382 (GRCm39) R56S possibly damaging Het
Hbq1a T G 11: 32,250,715 (GRCm39) S133A probably benign Het
Hhipl1 A G 12: 108,277,948 (GRCm39) E92G probably damaging Het
Knl1 A T 2: 118,892,843 (GRCm39) E46D probably damaging Het
Mcm2 G A 6: 88,869,990 (GRCm39) R60C probably damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Mmp21 T C 7: 133,280,479 (GRCm39) T164A probably benign Het
Mthfd2 T C 6: 83,288,330 (GRCm39) R142G probably benign Het
Mup4 T G 4: 59,959,192 (GRCm39) probably null Het
Npas3 A T 12: 54,115,832 (GRCm39) Q900L probably damaging Het
Nr1h3 T C 2: 91,022,205 (GRCm39) D141G probably damaging Het
Rap2a G T 14: 120,741,170 (GRCm39) A158S possibly damaging Het
Rttn A G 18: 89,113,695 (GRCm39) T1705A probably benign Het
Ryr3 A T 2: 112,486,876 (GRCm39) V3834E probably damaging Het
Taf5 A C 19: 47,064,272 (GRCm39) K405T probably damaging Het
Tbc1d19 T C 5: 54,005,548 (GRCm39) probably benign Het
Tmem232 A T 17: 65,572,297 (GRCm39) probably null Het
Tssk4 A G 14: 55,889,152 (GRCm39) N226S probably damaging Het
Tulp4 C A 17: 6,257,239 (GRCm39) S311R probably benign Het
Usp34 T C 11: 23,320,466 (GRCm39) I917T possibly 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
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
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'- CGGTGGACTCTGTATAGAACG -3'
(R):5'- TGCTGCTCTCTCAGTGATGG -3'

Sequencing Primer
(F):5'- CTCTGTATAGAACGTCCTGTAGAGC -3'
(R):5'- CTGCTCTCTCAGTGATGGTTAGG -3'
Posted On 2015-02-18