Incidental Mutation 'IGL02341:Uggt1'
ID 289099
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uggt1
Ensembl Gene ENSMUSG00000037470
Gene Name UDP-glucose glycoprotein glucosyltransferase 1
Synonyms C820010P03Rik, 0910001L17Rik, Ugcgl1, A930007H10Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.470) question?
Stock # IGL02341
Quality Score
Status
Chromosome 1
Chromosomal Location 36179109-36283407 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to T at 36203600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Arginine at position 47 (*47R)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046875] [ENSMUST00000173166] [ENSMUST00000174266]
AlphaFold Q6P5E4
Predicted Effect probably null
Transcript: ENSMUST00000046875
AA Change: L1010*
SMART Domains Protein: ENSMUSP00000037930
Gene: ENSMUSG00000037470
AA Change: L1010*

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: ENSMUST00000173082
Predicted Effect probably benign
Transcript: ENSMUST00000173166
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173999
Predicted Effect probably null
Transcript: ENSMUST00000174224
AA Change: *47R
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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid2 C T 15: 96,270,066 (GRCm39) S1393L probably benign Het
Bahcc1 T A 11: 120,163,346 (GRCm39) I548N probably damaging Het
Baiap3 A T 17: 25,467,290 (GRCm39) L405Q possibly damaging Het
Cacna1g T G 11: 94,352,978 (GRCm39) Q349P probably damaging Het
Ccdc30 T C 4: 119,213,978 (GRCm39) T184A possibly damaging Het
Ccdc63 A G 5: 122,251,261 (GRCm39) I383T probably benign Het
Ccnk A G 12: 108,161,989 (GRCm39) E298G unknown Het
Ccnt1 T C 15: 98,444,664 (GRCm39) E223G possibly damaging Het
Clcc1 T A 3: 108,580,699 (GRCm39) L333I possibly damaging Het
Cyp2b10 G A 7: 25,610,667 (GRCm39) R59Q probably benign Het
Cyp3a41b T A 5: 145,510,461 (GRCm39) T138S probably benign Het
Dennd4a C T 9: 64,749,843 (GRCm39) R145* probably null Het
Dnah8 A T 17: 30,966,231 (GRCm39) I2474F probably damaging Het
Dok1 T C 6: 83,010,035 (GRCm39) T25A probably damaging Het
Ears2 G A 7: 121,638,987 (GRCm39) A479V probably benign Het
Erc1 T A 6: 119,571,934 (GRCm39) I981F possibly damaging Het
Gm8730 A G 8: 103,591,775 (GRCm39) noncoding transcript Het
Gm9962 C T 7: 57,037,042 (GRCm39) probably benign Het
Has3 A T 8: 107,600,637 (GRCm39) Y33F probably damaging Het
Hk1 A G 10: 62,120,159 (GRCm39) S607P possibly damaging Het
Hlcs T A 16: 94,031,969 (GRCm39) I612F probably damaging Het
Llgl2 T A 11: 115,741,946 (GRCm39) S663T possibly damaging Het
Lrriq1 T C 10: 103,060,802 (GRCm39) H100R probably benign Het
Lypd8l T C 11: 58,503,656 (GRCm39) S17G possibly damaging Het
Magi2 T A 5: 20,671,201 (GRCm39) I678N probably damaging Het
Megf11 G A 9: 64,451,902 (GRCm39) G109S probably damaging Het
Morc2b A T 17: 33,356,281 (GRCm39) I497K probably damaging Het
Mybpc2 A C 7: 44,164,354 (GRCm39) S404A probably benign Het
Mylip A G 13: 45,544,752 (GRCm39) R59G probably damaging Het
Mylk3 A T 8: 86,078,601 (GRCm39) I501N probably damaging Het
Myo19 A G 11: 84,778,871 (GRCm39) probably benign Het
Nat2 A G 8: 67,954,370 (GRCm39) Y160C possibly damaging Het
Nf1 C T 11: 79,455,752 (GRCm39) A2554V probably benign Het
Niban3 A T 8: 72,056,443 (GRCm39) N381I possibly damaging Het
Ninl A T 2: 150,786,525 (GRCm39) C153* probably null Het
Nlrp5 C T 7: 23,103,577 (GRCm39) R15C probably benign Het
Nphp4 A T 4: 152,639,926 (GRCm39) probably benign Het
Obscn C A 11: 59,026,651 (GRCm39) R184L probably benign Het
Or6c202 T A 10: 128,996,302 (GRCm39) I184F probably benign Het
Or6c6c A T 10: 129,541,358 (GRCm39) T204S probably damaging Het
Or6c8 A T 10: 128,915,330 (GRCm39) C167* probably null Het
Phip A T 9: 82,814,936 (GRCm39) V262D probably damaging Het
Ptprg T A 14: 12,154,360 (GRCm38) S694T probably benign Het
Reck T A 4: 43,925,160 (GRCm39) D466E probably damaging Het
Rimbp2 G T 5: 128,878,025 (GRCm39) Y213* probably null Het
Scn2a C T 2: 65,518,721 (GRCm39) T365M probably damaging Het
Scpep1 T A 11: 88,835,314 (GRCm39) T120S probably benign Het
Sp7 T A 15: 102,267,657 (GRCm39) T50S possibly damaging Het
Tbc1d1 A G 5: 64,432,750 (GRCm39) R304G probably damaging Het
Tiam1 A G 16: 89,695,257 (GRCm39) S67P probably damaging Het
Tjp1 G A 7: 64,962,382 (GRCm39) T1185I probably damaging Het
Tspan2 T A 3: 102,672,529 (GRCm39) I178N probably damaging Het
Tusc2 T A 9: 107,442,109 (GRCm39) *103R probably null Het
Unc13c T A 9: 73,840,492 (GRCm39) I120F possibly damaging Het
Vcpip1 T A 1: 9,795,175 (GRCm39) K1065N possibly damaging Het
Zfp532 C A 18: 65,757,849 (GRCm39) P594Q probably 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
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
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
Posted On 2015-04-16