Incidental Mutation 'R8353:Uggt1'
ID 660513
Institutional Source Beutler Lab
Gene Symbol Uggt1
Ensembl Gene ENSMUSG00000037470
Gene Name UDP-glucose glycoprotein glucosyltransferase 1
Synonyms C820010P03Rik, 0910001L17Rik, Ugcgl1, A930007H10Rik
MMRRC Submission 067805-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.470) question?
Stock # R8353 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 36179109-36283407 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 36209377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000037930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046875] [ENSMUST00000046875] [ENSMUST00000173166] [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: ENSMUST00000173166
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
Meta Mutation Damage Score 0.9596 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (61/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr T C 11: 76,310,659 (GRCm39) T752A probably damaging Het
Adar A G 3: 89,657,569 (GRCm39) T508A possibly damaging Het
Atxn3 T A 12: 101,912,159 (GRCm39) K85I probably benign Het
Atxn7l1 G T 12: 33,197,882 (GRCm39) W50L probably damaging Het
Bahcc1 T C 11: 120,165,251 (GRCm39) V894A probably damaging Het
Bloc1s3 G T 7: 19,241,324 (GRCm39) T68K probably benign Het
Bmerb1 T A 16: 13,855,877 (GRCm39) probably null Het
Brd10 T C 19: 29,731,242 (GRCm39) H590R possibly damaging Het
C130073F10Rik C T 4: 101,747,881 (GRCm39) probably null Het
Cd55b T C 1: 130,341,870 (GRCm39) I256V probably benign Het
Celsr3 T A 9: 108,703,734 (GRCm39) D72E probably benign Het
Cep41 T C 6: 30,658,891 (GRCm39) D152G probably benign Het
Cip2a C T 16: 48,821,436 (GRCm39) Q181* probably null Het
Cpne8 C A 15: 90,425,496 (GRCm39) K285N possibly damaging Het
Csmd3 A T 15: 47,813,349 (GRCm39) I1061K probably damaging Het
Cspg4 A T 9: 56,805,953 (GRCm39) N2255Y probably damaging Het
Cym T A 3: 107,129,025 (GRCm39) probably benign Het
Cyp2d9 T C 15: 82,336,720 (GRCm39) V23A probably damaging Het
Dnah1 A T 14: 31,005,159 (GRCm39) I2365K probably benign Het
Dock5 C T 14: 68,054,957 (GRCm39) probably null Het
Dop1a A T 9: 86,403,639 (GRCm39) H1613L probably damaging Het
Dusp5 T C 19: 53,518,113 (GRCm39) V122A possibly damaging Het
Emc6 A G 11: 73,067,399 (GRCm39) L44P probably damaging Het
Fbxl6 G T 15: 76,422,678 (GRCm39) T80K probably benign Het
Frrs1 T A 3: 116,692,822 (GRCm39) M32K possibly damaging Het
Gfod1 A G 13: 43,354,366 (GRCm39) V203A possibly damaging Het
Gjc2 G A 11: 59,067,840 (GRCm39) A214V unknown Het
Gkn2 T C 6: 87,355,135 (GRCm39) Y115H probably damaging Het
Gpatch1 A C 7: 34,976,704 (GRCm39) probably benign Het
Hemgn G T 4: 46,403,935 (GRCm39) P20Q possibly damaging Het
Herc1 G T 9: 66,415,571 (GRCm39) V4849L possibly damaging Het
Hmcn2 A T 2: 31,275,353 (GRCm39) probably null Het
Htt C A 5: 35,034,499 (GRCm39) T1990N possibly damaging Het
Jrk C T 15: 74,578,474 (GRCm39) W270* probably null Het
Katnb1 A G 8: 95,822,072 (GRCm39) D266G probably damaging Het
Klhl42 A G 6: 147,009,421 (GRCm39) K420R probably damaging Het
Lamb1 C A 12: 31,356,998 (GRCm39) T1035K probably damaging Het
Laptm5 T C 4: 130,656,079 (GRCm39) probably null Het
Lilra5 T C 7: 4,240,971 (GRCm39) S22P probably benign Het
Mn1 A G 5: 111,568,505 (GRCm39) N825S possibly damaging Het
Mup17 C T 4: 61,510,419 (GRCm39) probably null Het
Ncapd3 T A 9: 26,983,100 (GRCm39) D949E probably benign Het
Ncoa7 T C 10: 30,570,155 (GRCm39) E230G probably damaging Het
Nxnl1 A G 8: 72,015,512 (GRCm39) V132A probably damaging Het
Oard1 A G 17: 48,723,788 (GRCm39) I145V probably benign Het
Pabpc4 T G 4: 123,189,846 (GRCm39) L555R probably benign Het
Ppp1r11 G T 17: 37,260,866 (GRCm39) S21R possibly damaging Het
Prr36 T C 8: 4,263,831 (GRCm39) probably benign Het
Serpina1a T A 12: 103,822,038 (GRCm39) D298V probably benign Het
Sqle A T 15: 59,196,314 (GRCm39) H369L possibly damaging Het
Stambp T C 6: 83,538,881 (GRCm39) E173G probably damaging Het
Syne1 T C 10: 5,300,983 (GRCm39) N915S probably damaging Het
Tjap1 C A 17: 46,593,530 (GRCm39) probably benign Het
Tmem62 A C 2: 120,814,817 (GRCm39) K30T probably damaging Het
Tmtc1 T C 6: 148,327,346 (GRCm39) T56A probably benign Het
Trav6-4 A T 14: 53,691,946 (GRCm39) M18L probably benign Het
Trim69 T C 2: 121,998,490 (GRCm39) I154T possibly damaging Het
Usp48 T A 4: 137,350,693 (GRCm39) M60K probably benign Het
Usp7 A G 16: 8,513,735 (GRCm39) S753P probably benign Het
Vmn2r27 A C 6: 124,169,404 (GRCm39) N575K probably damaging Het
Wdfy4 A C 14: 32,695,581 (GRCm39) D2672E probably benign Het
Zdhhc17 G A 10: 110,845,803 (GRCm39) P30L probably benign Het
Zmym4 T A 4: 126,800,905 (GRCm39) Y565F 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
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
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'- TTATCTGGGAAGGTAAAGGCTG -3'
(R):5'- CAACAGCCTTGCAGAGTAGG -3'

Sequencing Primer
(F):5'- CTGTGAGACAAAGAATGAAAGCC -3'
(R):5'- TTGCAGAGTAGGCCGTTCC -3'
Posted On 2021-01-18