Incidental Mutation 'R3157:Gxylt1'
ID 263565
Institutional Source Beutler Lab
Gene Symbol Gxylt1
Ensembl Gene ENSMUSG00000036197
Gene Name glucoside xylosyltransferase 1
Synonyms LOC382997, LOC223827, Glt8d3
MMRRC Submission 040608-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3157 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 93137623-93173060 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93142913 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q3UHH8
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: 8,747,669 (GRCm39) K408N probably benign Het
Aoc2 A T 11: 101,220,102 (GRCm39) N696I probably damaging Het
Ap1g2 A T 14: 55,336,731 (GRCm39) I747N probably damaging Het
Arhgap27 T A 11: 103,224,663 (GRCm39) probably null Het
Bmp1 G T 14: 70,729,547 (GRCm39) N541K possibly damaging Het
Cacna1c T A 6: 118,728,485 (GRCm39) T320S probably benign Het
Ccr4 G T 9: 114,321,350 (GRCm39) N238K probably benign Het
Cd300e A C 11: 114,952,849 (GRCm39) M1R probably null Het
Cep95 A G 11: 106,700,013 (GRCm39) probably benign Het
Cfap54 T C 10: 92,834,918 (GRCm39) I1096V probably benign Het
D630003M21Rik A C 2: 158,037,392 (GRCm39) probably benign Het
Dmpk A G 7: 18,826,944 (GRCm39) T579A probably benign Het
Dock8 T C 19: 25,127,195 (GRCm39) Y1058H probably benign Het
Dscam T C 16: 96,479,710 (GRCm39) T1146A probably benign Het
Fnip2 T C 3: 79,474,901 (GRCm39) T4A probably damaging Het
Galnt12 A G 4: 47,104,264 (GRCm39) D174G probably damaging Het
Hmcn2 A G 2: 31,290,267 (GRCm39) N2367D probably damaging Het
Hydin A G 8: 110,994,005 (GRCm39) K13R unknown Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kcns1 G A 2: 164,006,865 (GRCm39) A366V probably damaging Het
Kif5a A T 10: 127,081,310 (GRCm39) I208N probably damaging Het
Klrb1c G T 6: 128,761,702 (GRCm39) T134K possibly damaging Het
Med14 G A X: 12,550,330 (GRCm39) probably benign Het
Mgat4d T C 8: 84,081,450 (GRCm39) Y68H probably benign Het
Mmp11 C T 10: 75,762,948 (GRCm39) probably benign Het
Ncapg T A 5: 45,833,400 (GRCm39) D295E probably benign Het
Npas2 C T 1: 39,386,690 (GRCm39) T653M possibly damaging Het
Nps A G 7: 134,873,989 (GRCm39) D53G probably benign Het
Ociad1 A T 5: 73,467,688 (GRCm39) R155* probably null Het
Or5b101 G C 19: 13,005,411 (GRCm39) A94G probably benign Het
Pcdha2 A G 18: 37,073,145 (GRCm39) T259A probably damaging Het
Pced1a A G 2: 130,261,687 (GRCm39) M322T probably benign Het
Pcgf6 T C 19: 47,028,475 (GRCm39) probably benign Het
Pigg C T 5: 108,462,014 (GRCm39) T115I probably damaging Het
Plcd4 G A 1: 74,590,313 (GRCm39) probably null Het
Prss52 G T 14: 64,350,992 (GRCm39) W259L probably damaging Het
Rasal2 A G 1: 156,986,225 (GRCm39) probably benign Het
Rec8 A G 14: 55,862,763 (GRCm39) E574G probably damaging Het
Sectm1a A G 11: 120,959,603 (GRCm39) I175T probably benign Het
Slc16a8 T C 15: 79,136,375 (GRCm39) I276V probably damaging Het
Slc8a3 C A 12: 81,361,766 (GRCm39) R351L probably damaging Het
Slc9b1 G A 3: 135,077,606 (GRCm39) G100E probably damaging Het
Smu1 T A 4: 40,754,529 (GRCm39) R123S possibly damaging Het
Synpr C T 14: 13,493,614 (GRCm38) A64V possibly damaging Het
Tmem132a C T 19: 10,836,901 (GRCm39) W680* probably null Het
Tpt1 G A 14: 76,083,840 (GRCm39) probably benign Het
Trav18 A G 14: 54,069,152 (GRCm39) T65A probably benign Het
Ttll4 T C 1: 74,736,770 (GRCm39) L1165P possibly damaging Het
Other mutations in Gxylt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00781:Gxylt1 APN 15 93,152,273 (GRCm39) missense probably damaging 0.98
IGL03403:Gxylt1 APN 15 93,159,656 (GRCm39) missense possibly damaging 0.71
PIT4260001:Gxylt1 UTSW 15 93,159,708 (GRCm39) missense probably damaging 1.00
R0040:Gxylt1 UTSW 15 93,152,436 (GRCm39) splice site probably benign
R0040:Gxylt1 UTSW 15 93,152,436 (GRCm39) splice site probably benign
R1033:Gxylt1 UTSW 15 93,142,958 (GRCm39) missense probably benign 0.00
R1413:Gxylt1 UTSW 15 93,152,273 (GRCm39) missense probably damaging 0.98
R2132:Gxylt1 UTSW 15 93,142,851 (GRCm39) makesense probably null
R2144:Gxylt1 UTSW 15 93,152,361 (GRCm39) missense probably benign 0.31
R3159:Gxylt1 UTSW 15 93,142,913 (GRCm39) missense probably benign 0.28
R5436:Gxylt1 UTSW 15 93,145,780 (GRCm39) missense probably damaging 1.00
R5567:Gxylt1 UTSW 15 93,152,180 (GRCm39) critical splice donor site probably null
R5570:Gxylt1 UTSW 15 93,152,180 (GRCm39) critical splice donor site probably null
R5599:Gxylt1 UTSW 15 93,152,198 (GRCm39) small deletion probably benign
R5656:Gxylt1 UTSW 15 93,143,542 (GRCm39) missense probably damaging 1.00
R7650:Gxylt1 UTSW 15 93,143,539 (GRCm39) missense probably benign 0.31
R9369:Gxylt1 UTSW 15 93,172,896 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- CCTGGAGCACAAGAGTTCAAC -3'
(R):5'- GTACTTCATGTGAGATAGCAAATGG -3'

Sequencing Primer
(F):5'- TGGAGCACAAGAGTTCAACTTACTC -3'
(R):5'- TCATGTGAGATAGCAAATGGTAGTTG -3'
Posted On 2015-02-05