Incidental Mutation 'IGL00781:Gxylt1'
ID13525
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gxylt1
Ensembl Gene ENSMUSG00000036197
Gene Nameglucoside xylosyltransferase 1
SynonymsGlt8d3, LOC382997, LOC223827
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.475) question?
Stock #IGL00781
Quality Score
Status
Chromosome15
Chromosomal Location93239742-93275179 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 93254392 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 222 (R222H)
Ref Sequence ENSEMBL: ENSMUSP00000155854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049484] [ENSMUST00000057896] [ENSMUST00000230063]
Predicted Effect probably damaging
Transcript: ENSMUST00000049484
AA Change: R222H

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047281
Gene: ENSMUSG00000036197
AA Change: R222H

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 51 69 N/A INTRINSIC
Pfam:Glyco_transf_8 81 330 9.9e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000057896
AA Change: R253H

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081947
Gene: ENSMUSG00000036197
AA Change: R253H

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 51 69 N/A INTRINSIC
Pfam:Glyco_transf_8 103 359 4.1e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000230063
AA Change: R222H

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 A G 10: 106,966,026 S489P probably benign Het
Adam8 A T 7: 139,987,245 N431K probably damaging Het
Add1 A G 5: 34,613,358 H271R probably damaging Het
Adgrv1 G A 13: 81,578,230 L559F probably benign Het
Cdk17 A G 10: 93,232,416 Y312C probably damaging Het
Cemip A G 7: 83,947,280 I1092T possibly damaging Het
Col20a1 G T 2: 181,003,479 V885F possibly damaging Het
Dcc A G 18: 71,809,195 S284P probably benign Het
Ercc4 T C 16: 13,125,369 V284A possibly damaging Het
Fam184b A T 5: 45,555,192 probably null Het
Fbln7 G A 2: 128,893,851 R253Q possibly damaging Het
Gfm2 T C 13: 97,149,339 F112S probably damaging Het
Madd T C 2: 91,146,928 I1385V probably benign Het
Pkn3 C A 2: 30,083,390 probably benign Het
Sppl2a T A 2: 126,919,720 N288I probably benign Het
St14 A G 9: 31,103,779 S308P probably damaging Het
Syne2 C A 12: 76,024,062 P4430T probably benign Het
Taf6l C T 19: 8,773,661 G43D probably damaging Het
Trim11 T C 11: 58,990,697 L472P probably benign Het
Usp2 C T 9: 44,089,165 R284* probably null Het
Other mutations in Gxylt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03403:Gxylt1 APN 15 93261775 missense possibly damaging 0.71
R0040:Gxylt1 UTSW 15 93254555 splice site probably benign
R0040:Gxylt1 UTSW 15 93254555 splice site probably benign
R1033:Gxylt1 UTSW 15 93245077 missense probably benign 0.00
R1413:Gxylt1 UTSW 15 93254392 missense probably damaging 0.98
R2132:Gxylt1 UTSW 15 93244970 makesense probably null
R2144:Gxylt1 UTSW 15 93254480 missense probably benign 0.31
R3157:Gxylt1 UTSW 15 93245032 missense probably benign 0.28
R3159:Gxylt1 UTSW 15 93245032 missense probably benign 0.28
R5436:Gxylt1 UTSW 15 93247899 missense probably damaging 1.00
R5567:Gxylt1 UTSW 15 93254299 critical splice donor site probably null
R5570:Gxylt1 UTSW 15 93254299 critical splice donor site probably null
R5599:Gxylt1 UTSW 15 93254317 small deletion probably benign
R5656:Gxylt1 UTSW 15 93245661 missense probably damaging 1.00
Posted On2012-12-06