Incidental Mutation 'R4895:Uggt1'
ID 377527
Institutional Source Beutler Lab
Gene Symbol Uggt1
Ensembl Gene ENSMUSG00000037470
Gene Name UDP-glucose glycoprotein glucosyltransferase 1
Synonyms Ugcgl1, C820010P03Rik, A930007H10Rik, 0910001L17Rik
MMRRC Submission 042499-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.554) question?
Stock # R4895 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 36140027-36244720 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36156264 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 1288 (F1288Y)
Ref Sequence ENSEMBL: ENSMUSP00000037930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046875] [ENSMUST00000174266]
AlphaFold Q6P5E4
Predicted Effect probably damaging
Transcript: ENSMUST00000046875
AA Change: F1288Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037930
Gene: ENSMUSG00000037470
AA Change: F1288Y

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: ENSMUST00000173999
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 0.7160 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (84/86)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519P11Rik C A 2: 154,613,070 (GRCm38) probably benign Het
Abat G A 16: 8,615,962 (GRCm38) A392T probably benign Het
Abca14 G A 7: 120,247,349 (GRCm38) probably null Het
Abcc6 A T 7: 45,980,990 (GRCm38) L1282Q possibly damaging Het
Acss2 A G 2: 155,550,481 (GRCm38) probably benign Het
Adgrf1 G T 17: 43,310,620 (GRCm38) V583L probably benign Het
Aftph T C 11: 20,696,801 (GRCm38) D825G probably damaging Het
Ahnak T C 19: 9,017,441 (GRCm38) V5363A probably benign Het
Apba3 G A 10: 81,271,283 (GRCm38) probably null Het
Asb13 T C 13: 3,643,589 (GRCm38) Y116H probably damaging Het
Asb4 C A 6: 5,398,266 (GRCm38) T77K probably damaging Het
Atp8b4 A T 2: 126,414,369 (GRCm38) H223Q probably benign Het
Best1 A G 19: 9,992,771 (GRCm38) L159P probably benign Het
Cacna1h A T 17: 25,389,422 (GRCm38) M731K probably damaging Het
Catspere1 T A 1: 177,859,861 (GRCm38) noncoding transcript Het
Cenpv A T 11: 62,527,520 (GRCm38) Y202* probably null Het
Cep57 A T 9: 13,816,153 (GRCm38) probably benign Het
Cfap100 T A 6: 90,406,102 (GRCm38) D363V possibly damaging Het
Cluh A G 11: 74,667,405 (GRCm38) Y1126C probably damaging Het
Cyp2j5 A G 4: 96,663,110 (GRCm38) probably null Het
Dnajc11 T C 4: 151,979,933 (GRCm38) F514L probably damaging Het
Efcab3 T A 11: 105,117,401 (GRCm38) probably benign Het
Eif2b4 T G 5: 31,192,954 (GRCm38) Q8P probably benign Het
Epha6 A T 16: 59,666,555 (GRCm38) V1043E probably benign Het
Gm11562 G T 11: 99,620,315 (GRCm38) Q20K unknown Het
Gm11639 A G 11: 104,749,670 (GRCm38) D1026G probably damaging Het
Gm11639 C T 11: 104,720,286 (GRCm38) T318I probably benign Het
Gm13762 A T 2: 88,973,711 (GRCm38) F60Y probably benign Het
Gm14415 A T 2: 177,104,321 (GRCm38) noncoding transcript Het
Gm5431 A G 11: 48,889,028 (GRCm38) S634P probably damaging Het
Gpld1 C A 13: 24,979,728 (GRCm38) N501K probably damaging Het
Gsn C T 2: 35,302,578 (GRCm38) R513C probably damaging Het
Gulp1 T C 1: 44,788,597 (GRCm38) F300L probably benign Het
H2afj T C 6: 136,808,662 (GRCm38) V108A possibly damaging Het
Haus3 T C 5: 34,168,070 (GRCm38) R82G probably benign Het
Herc2 G A 7: 56,222,986 (GRCm38) R4424H probably damaging Het
Hmcn1 T A 1: 150,677,379 (GRCm38) Q2520L probably benign Het
Hs2st1 T C 3: 144,465,253 (GRCm38) I53V probably benign Het
Inpp5e C T 2: 26,397,912 (GRCm38) R624Q probably damaging Het
Ints8 G T 4: 11,230,367 (GRCm38) C491* probably null Het
Itpkb C A 1: 180,413,895 (GRCm38) A710D probably damaging Het
Kcnk4 A C 19: 6,928,416 (GRCm38) probably null Het
Kmt2d T C 15: 98,844,487 (GRCm38) probably benign Het
Lamb3 C T 1: 193,332,314 (GRCm38) R594* probably null Het
Map3k20 A G 2: 72,402,356 (GRCm38) probably benign Het
Maz A T 7: 127,025,300 (GRCm38) probably null Het
Mtr T C 13: 12,216,866 (GRCm38) T651A probably benign Het
Nbeal1 A G 1: 60,292,903 (GRCm38) E2252G probably damaging Het
Ndufa10 A G 1: 92,469,896 (GRCm38) Y61H probably damaging Het
Npat T A 9: 53,570,489 (GRCm38) L1166M probably damaging Het
Olfr1112 A C 2: 87,191,848 (GRCm38) I54L probably benign Het
Olfr1447 C T 19: 12,900,887 (GRCm38) V298M probably damaging Het
Olfr190 C T 16: 59,074,657 (GRCm38) C141Y probably benign Het
Olfr490 A C 7: 108,286,595 (GRCm38) I177S probably damaging Het
Olfr988 A T 2: 85,352,997 (GRCm38) *310K probably null Het
Pcdhb3 T C 18: 37,301,706 (GRCm38) F242L probably damaging Het
Phip A G 9: 82,959,595 (GRCm38) V57A probably benign Het
Plekha7 A T 7: 116,189,391 (GRCm38) probably null Het
Pot1a A C 6: 25,753,206 (GRCm38) F444V probably damaging Het
Ppm1a C T 12: 72,784,352 (GRCm38) P217L probably damaging Het
Prepl A G 17: 85,081,066 (GRCm38) F203S probably damaging Het
Prl8a1 T C 13: 27,575,530 (GRCm38) I175V probably benign Het
Ranbp6 A T 19: 29,809,775 (GRCm38) I1059N possibly damaging Het
Rhag A G 17: 40,811,351 (GRCm38) Q59R probably benign Het
Sema4c A C 1: 36,553,570 (GRCm38) probably null Het
Sf3b3 T C 8: 110,816,024 (GRCm38) D902G probably benign Het
Tbc1d23 A G 16: 57,198,857 (GRCm38) probably null Het
Tbrg1 A T 9: 37,655,079 (GRCm38) I54N probably damaging Het
Tchh A T 3: 93,445,686 (GRCm38) E811V unknown Het
Tenm3 T A 8: 48,300,971 (GRCm38) D799V probably damaging Het
Tlr5 T C 1: 182,974,199 (GRCm38) L342P probably damaging Het
Tppp C T 13: 74,030,877 (GRCm38) R146* probably null Het
Trpm4 A T 7: 45,318,058 (GRCm38) M574K probably damaging Het
Uggt2 T A 14: 119,018,886 (GRCm38) K1124N probably damaging Het
Usf3 A C 16: 44,221,096 (GRCm38) S1980R possibly damaging Het
Vav2 T C 2: 27,318,961 (GRCm38) D100G probably damaging Het
Vmn2r3 G T 3: 64,259,761 (GRCm38) H650N probably benign Het
Vmn2r59 T A 7: 42,045,794 (GRCm38) Y398F probably damaging Het
Zfp619 A G 7: 39,537,972 (GRCm38) D1142G possibly damaging Het
Zfp933 G A 4: 147,826,435 (GRCm38) R235* probably null 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
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
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'- TCAAACAGGCCATAATTTTGGG -3'
(R):5'- AGTGAAGGTCTCTGCCTAACTG -3'

Sequencing Primer
(F):5'- ACAGGCCATAATTTTGGGTTTAG -3'
(R):5'- GGTCTCTGCCTAACTGAACAATGG -3'
Posted On 2016-03-17