Incidental Mutation 'R3157:Gxylt1'
ID263565
Institutional Source Beutler Lab
Gene Symbol Gxylt1
Ensembl Gene ENSMUSG00000036197
Gene Nameglucoside xylosyltransferase 1
SynonymsGlt8d3, LOC382997, LOC223827
MMRRC Submission 040608-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R3157 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location93239742-93275179 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 93245032 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 384 (I384T)
Ref Sequence ENSEMBL: ENSMUSP00000155854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049484] [ENSMUST00000057896] [ENSMUST00000230063]
Predicted Effect probably benign
Transcript: ENSMUST00000049484
SMART Domains Protein: ENSMUSP00000047281
Gene: ENSMUSG00000036197

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 benign
Transcript: ENSMUST00000057896
AA Change: I415T

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000081947
Gene: ENSMUSG00000036197
AA Change: I415T

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 benign
Transcript: ENSMUST00000230063
AA Change: I384T

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
Meta Mutation Damage Score 0.0808 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 98% (47/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 A T 13: 8,697,633 K408N probably benign Het
Aoc2 A T 11: 101,329,276 N696I probably damaging Het
Ap1g2 A T 14: 55,099,274 I747N probably damaging Het
Arhgap27 T A 11: 103,333,837 probably null Het
Bmp1 G T 14: 70,492,107 N541K possibly damaging Het
Cacna1c T A 6: 118,751,524 T320S probably benign Het
Ccr4 G T 9: 114,492,282 N238K probably benign Het
Cd300e A C 11: 115,062,023 M1R probably null Het
Cep95 A G 11: 106,809,187 probably benign Het
Cfap54 T C 10: 92,999,056 I1096V probably benign Het
D630003M21Rik A C 2: 158,195,472 probably benign Het
Dmpk A G 7: 19,093,019 T579A probably benign Het
Dock8 T C 19: 25,149,831 Y1058H probably benign Het
Dscam T C 16: 96,678,510 T1146A probably benign Het
Fnip2 T C 3: 79,567,594 T4A probably damaging Het
Galnt12 A G 4: 47,104,264 D174G probably damaging Het
Hmcn2 A G 2: 31,400,255 N2367D probably damaging Het
Hydin A G 8: 110,267,373 K13R unknown Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 52,725,906 probably benign Het
Kcns1 G A 2: 164,164,945 A366V probably damaging Het
Kif5a A T 10: 127,245,441 I208N probably damaging Het
Klrb1c G T 6: 128,784,739 T134K possibly damaging Het
Med14 G A X: 12,684,091 probably benign Het
Mgat4d T C 8: 83,354,821 Y68H probably benign Het
Mmp11 C T 10: 75,927,114 probably benign Het
Ncapg T A 5: 45,676,058 D295E probably benign Het
Npas2 C T 1: 39,347,609 T653M possibly damaging Het
Nps A G 7: 135,272,260 D53G probably benign Het
Ociad1 A T 5: 73,310,345 R155* probably null Het
Olfr1453 G C 19: 13,028,047 A94G probably benign Het
Pcdha2 A G 18: 36,940,092 T259A probably damaging Het
Pced1a A G 2: 130,419,767 M322T probably benign Het
Pcgf6 T C 19: 47,040,036 probably benign Het
Pigg C T 5: 108,314,148 T115I probably damaging Het
Plcd4 G A 1: 74,551,154 probably null Het
Prss52 G T 14: 64,113,543 W259L probably damaging Het
Rasal2 A G 1: 157,158,655 probably benign Het
Rec8 A G 14: 55,625,306 E574G probably damaging Het
Sectm1a A G 11: 121,068,777 I175T probably benign Het
Slc16a8 T C 15: 79,252,175 I276V probably damaging Het
Slc8a3 C A 12: 81,314,992 R351L probably damaging Het
Slc9b1 G A 3: 135,371,845 G100E probably damaging Het
Smu1 T A 4: 40,754,529 R123S possibly damaging Het
Synpr C T 14: 13,493,614 A64V possibly damaging Het
Tmem132a C T 19: 10,859,537 W680* probably null Het
Tpt1 G A 14: 75,846,400 probably benign Het
Trav18 A G 14: 53,831,695 T65A probably benign Het
Ttll4 T C 1: 74,697,611 L1165P possibly damaging Het
Other mutations in Gxylt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00781:Gxylt1 APN 15 93254392 missense probably damaging 0.98
IGL03403:Gxylt1 APN 15 93261775 missense possibly damaging 0.71
PIT4260001:Gxylt1 UTSW 15 93261827 missense probably damaging 1.00
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
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
R7650:Gxylt1 UTSW 15 93245658 missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- CCTGGAGCACAAGAGTTCAAC -3'
(R):5'- GTACTTCATGTGAGATAGCAAATGG -3'

Sequencing Primer
(F):5'- TGGAGCACAAGAGTTCAACTTACTC -3'
(R):5'- TCATGTGAGATAGCAAATGGTAGTTG -3'
Posted On2015-02-05