Incidental Mutation 'IGL02883:Uggt1'
ID 362881
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uggt1
Ensembl Gene ENSMUSG00000037470
Gene Name UDP-glucose glycoprotein glucosyltransferase 1
Synonyms Ugcgl1, C820010P03Rik, A930007H10Rik, 0910001L17Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.554) question?
Stock # IGL02883
Quality Score
Status
Chromosome 1
Chromosomal Location 36140027-36244720 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36177615 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 96 (N96K)
Ref Sequence ENSEMBL: ENSMUSP00000134078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046875] [ENSMUST00000173166] [ENSMUST00000174266]
AlphaFold Q6P5E4
Predicted Effect probably benign
Transcript: ENSMUST00000046875
AA Change: N713K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000037930
Gene: ENSMUSG00000037470
AA Change: N713K

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
AA Change: N96K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174716
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C A 19: 3,716,972 (GRCm38) S186R possibly damaging Het
Acap2 A G 16: 31,096,345 (GRCm38) probably benign Het
Cacna1h G T 17: 25,380,532 (GRCm38) R1726S probably damaging Het
Cdca2 T C 14: 67,707,497 (GRCm38) S133G probably damaging Het
Cep295nl A T 11: 118,333,909 (GRCm38) S36R probably benign Het
Crispld1 A G 1: 17,746,789 (GRCm38) N190S possibly damaging Het
Crtam A G 9: 40,994,501 (GRCm38) V44A probably benign Het
Crtc1 C T 8: 70,406,125 (GRCm38) G112S probably benign Het
Cyp17a1 T C 19: 46,669,351 (GRCm38) N254S probably benign Het
Dmrta1 T C 4: 89,688,774 (GRCm38) S156P probably benign Het
Eno2 A C 6: 124,766,209 (GRCm38) V188G probably damaging Het
Fam20a A T 11: 109,675,127 (GRCm38) I427N probably damaging Het
Fat2 T C 11: 55,256,618 (GRCm38) K3933E probably benign Het
Gm15448 A G 7: 3,822,180 (GRCm38) S488P possibly damaging Het
Igkv8-30 T C 6: 70,117,617 (GRCm38) M1V probably null Het
Ist1 G A 8: 109,683,668 (GRCm38) probably benign Het
Kank4 T C 4: 98,773,453 (GRCm38) E765G possibly damaging Het
Kat14 T C 2: 144,393,529 (GRCm38) L92S probably damaging Het
Kcnu1 G A 8: 25,849,827 (GRCm38) V58I probably benign Het
Lrba T A 3: 86,445,413 (GRCm38) I1956N probably damaging Het
Lrba T A 3: 86,354,206 (GRCm38) V1489E probably damaging Het
Mdn1 G A 4: 32,763,199 (GRCm38) V5100I probably benign Het
Mkrn2os C A 6: 115,586,709 (GRCm38) G122* probably null Het
Nme3 T C 17: 24,896,906 (GRCm38) Y78H probably benign Het
Pkd1l2 G A 8: 117,065,745 (GRCm38) T436I probably benign Het
Ppp2r5c T G 12: 110,522,563 (GRCm38) V56G possibly damaging Het
Pramef25 T C 4: 143,949,848 (GRCm38) T229A possibly damaging Het
Prdm10 G A 9: 31,327,348 (GRCm38) V179M probably damaging Het
Rab11fip2 A G 19: 59,906,998 (GRCm38) V344A probably damaging Het
Selp G A 1: 164,130,102 (GRCm38) A267T probably benign Het
Sf3a1 T A 11: 4,179,192 (GRCm38) W718R probably damaging Het
Taar9 T C 10: 24,109,480 (GRCm38) N19D probably benign Het
Tas2r113 T G 6: 132,893,419 (GRCm38) S137A probably damaging Het
Traf4 A T 11: 78,161,621 (GRCm38) I66N possibly damaging Het
Ucp3 A T 7: 100,480,642 (GRCm38) T164S probably benign Het
Uqcc1 T A 2: 155,911,829 (GRCm38) Q42L possibly damaging Het
Vmn1r128 A G 7: 21,349,515 (GRCm38) K48R probably benign 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
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
R4895:Uggt1 UTSW 1 36,156,264 (GRCm38) missense probably damaging 1.00
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
Posted On 2015-12-18