Incidental Mutation 'R7490:Uggt1'
ID 580645
Institutional Source Beutler Lab
Gene Symbol Uggt1
Ensembl Gene ENSMUSG00000037470
Gene Name UDP-glucose glycoprotein glucosyltransferase 1
Synonyms C820010P03Rik, 0910001L17Rik, Ugcgl1, A930007H10Rik
MMRRC Submission 045564-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.330) question?
Stock # R7490 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 36179109-36283407 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36203589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1014 (I1014V)
Ref Sequence ENSEMBL: ENSMUSP00000037930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046875] [ENSMUST00000173166] [ENSMUST00000174266]
AlphaFold Q6P5E4
Predicted Effect probably benign
Transcript: ENSMUST00000046875
AA Change: I1014V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000037930
Gene: ENSMUSG00000037470
AA Change: I1014V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T C 1: 53,202,389 (GRCm39) D132G possibly damaging Het
Abca5 T C 11: 110,168,437 (GRCm39) E1424G possibly damaging Het
Adamts4 C T 1: 171,084,169 (GRCm39) Q549* probably null Het
Adcy4 A G 14: 56,007,890 (GRCm39) I893T possibly damaging Het
Ago1 A T 4: 126,333,298 (GRCm39) *858R probably null Het
Ank2 T A 3: 126,752,538 (GRCm39) I393L probably damaging Het
Ankrd44 T C 1: 54,687,459 (GRCm39) T987A probably benign Het
Ap2a1 G T 7: 44,552,213 (GRCm39) N790K probably benign Het
Aqr A G 2: 113,989,349 (GRCm39) probably null Het
Arel1 G T 12: 84,988,685 (GRCm39) F21L probably damaging Het
Atp1a3 T C 7: 24,686,895 (GRCm39) D743G probably damaging Het
Atp9a A T 2: 168,517,272 (GRCm39) F354I probably benign Het
Bag6 A G 17: 35,359,818 (GRCm39) H259R unknown Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 TGGTT TGGTTCTGTGGTCACGGGTT 3: 95,795,498 (GRCm39) probably benign Het
BC028528 GTCACTGGTTCTGTG GTCACTGGTTCTGTGTTCACTGGTTCTGTG 3: 95,795,478 (GRCm39) probably benign Het
Bckdk T A 7: 127,504,145 (GRCm39) S15T unknown Het
C4b G T 17: 34,950,054 (GRCm39) Y1405* probably null Het
Camk4 G A 18: 33,072,598 (GRCm39) probably null Het
Car11 T A 7: 45,349,742 (GRCm39) W16R probably benign Het
Ccdc80 A C 16: 44,916,763 (GRCm39) E506D probably damaging Het
Chmp6 C T 11: 119,806,269 (GRCm39) Q32* probably null Het
Colq G A 14: 31,267,043 (GRCm39) P166S possibly damaging Het
Ctxn3 T C 18: 57,610,357 (GRCm39) M58T probably damaging Het
Cxcl3 A T 5: 90,934,516 (GRCm39) I93L unknown Het
Dnaaf2 T C 12: 69,244,380 (GRCm39) Y227C probably damaging Het
Dner CGCTGCTGCTGCTGCTGCTGCTGCTGC CGCTGCTGCTGCTGCTGCTGCTGC 1: 84,563,270 (GRCm39) probably benign Het
Dnmt3a G A 12: 3,954,204 (GRCm39) G792D probably damaging Het
Dsg4 T A 18: 20,584,993 (GRCm39) probably null Het
Ecm2 C T 13: 49,683,818 (GRCm39) Q599* probably null Het
Fbxl13 T A 5: 21,728,058 (GRCm39) R550* probably null Het
Gm4302 A T 10: 100,177,445 (GRCm39) Q243L unknown Het
Gm7168 A T 17: 14,169,275 (GRCm39) Y214F probably benign Het
Gtf3c1 C T 7: 125,246,663 (GRCm39) D1549N probably damaging Het
Gtf3c5 A T 2: 28,461,153 (GRCm39) D320E probably damaging Het
Hivep1 T A 13: 42,311,126 (GRCm39) V1122D probably damaging Het
Ibtk T C 9: 85,600,987 (GRCm39) probably null Het
Irs1 T A 1: 82,264,985 (GRCm39) Q1077L probably damaging Het
Ivd A T 2: 118,707,373 (GRCm39) M296L possibly damaging Het
Katnal1 T C 5: 148,828,492 (GRCm39) D318G probably null Het
L3mbtl3 C T 10: 26,215,129 (GRCm39) V194I unknown Het
Malt1 C A 18: 65,581,282 (GRCm39) Q237K probably benign Het
Marchf11 C T 15: 26,311,187 (GRCm39) A221V possibly damaging Het
Nfe2l3 A G 6: 51,434,524 (GRCm39) I361M possibly damaging Het
Nrg1 G A 8: 32,308,682 (GRCm39) R493C probably damaging Het
Oga G A 19: 45,755,886 (GRCm39) R586* probably null Het
Or10g9b T A 9: 39,917,720 (GRCm39) H175L probably damaging Het
Or2f1 T C 6: 42,721,739 (GRCm39) I256T probably damaging Het
Or4c107 A C 2: 88,789,392 (GRCm39) Y194S probably benign Het
Or51g2 G A 7: 102,623,017 (GRCm39) P61S probably damaging Het
Or5ar1 A T 2: 85,671,307 (GRCm39) V276E probably damaging Het
Or7g16 A T 9: 18,727,229 (GRCm39) Y120* probably null Het
Orai3 C T 7: 127,372,799 (GRCm39) A100V possibly damaging Het
Oxsm T A 14: 16,241,066 (GRCm38) M328L probably benign Het
Pan2 T C 10: 128,144,309 (GRCm39) V186A probably benign Het
Pkd1l1 T A 11: 8,866,265 (GRCm39) D980V Het
Ppp1r16b T C 2: 158,603,388 (GRCm39) Y438H probably damaging Het
Ppp4c A T 7: 126,386,504 (GRCm39) H164Q probably damaging Het
Prl8a2 C A 13: 27,536,753 (GRCm39) T125K possibly damaging Het
Rasa2 T C 9: 96,448,175 (GRCm39) N494S possibly damaging Het
Rpl18a T C 8: 71,348,150 (GRCm39) D147G probably benign Het
Scg3 T C 9: 75,576,559 (GRCm39) D272G possibly damaging Het
Serpinb6c T A 13: 34,077,818 (GRCm39) D184V probably benign Het
Simc1 T G 13: 54,672,162 (GRCm39) L170R possibly damaging Het
Slx4 T C 16: 3,797,995 (GRCm39) E1463G possibly damaging Het
Stk31 T A 6: 49,416,166 (GRCm39) probably null Het
Tas1r3 A G 4: 155,946,480 (GRCm39) I375T probably damaging Het
Tbc1d24 T C 17: 24,401,494 (GRCm39) D405G probably damaging Het
Tcerg1l G A 7: 137,861,557 (GRCm39) P391S probably damaging Het
Tiam1 T C 16: 89,695,083 (GRCm39) S125G probably benign Het
Trim16 C A 11: 62,724,949 (GRCm39) H246N probably damaging Het
Tti1 T A 2: 157,837,392 (GRCm39) N896I probably damaging Het
Ubash3a A G 17: 31,451,286 (GRCm39) N395S probably damaging Het
Vmn1r30 T A 6: 58,412,214 (GRCm39) Q206L possibly damaging Het
Washc5 T A 15: 59,209,053 (GRCm39) N1057I probably benign Het
Xpo4 GGTATTAGCGGAGT GGT 14: 57,840,078 (GRCm39) probably null Het
Zcchc14 A T 8: 122,331,756 (GRCm39) S536T unknown 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
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'- GGGGACTGTCAGTACACATC -3'
(R):5'- GAACCAGGCCTTCTATCTGTGG -3'

Sequencing Primer
(F):5'- GGGGACTGTCAGTACACATCCTTTC -3'
(R):5'- ACTCTACGTTGGAGCTCTGATGC -3'
Posted On 2019-10-17