Incidental Mutation 'IGL03403:Gxylt1'
ID 421494
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gxylt1
Ensembl Gene ENSMUSG00000036197
Gene Name glucoside xylosyltransferase 1
Synonyms LOC382997, LOC223827, Glt8d3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03403
Quality Score
Status
Chromosome 15
Chromosomal Location 93137623-93173060 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93159656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 148 (D148G)
Ref Sequence ENSEMBL: ENSMUSP00000081947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049484] [ENSMUST00000057896] [ENSMUST00000230063]
AlphaFold Q3UHH8
Predicted Effect possibly damaging
Transcript: ENSMUST00000049484
AA Change: D117G

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000047281
Gene: ENSMUSG00000036197
AA Change: D117G

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 possibly damaging
Transcript: ENSMUST00000057896
AA Change: D148G

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000081947
Gene: ENSMUSG00000036197
AA Change: D148G

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 possibly damaging
Transcript: ENSMUST00000230063
AA Change: D117G

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 T A 15: 11,241,574 (GRCm39) I382N probably damaging Het
Adamts5 T C 16: 85,659,902 (GRCm39) T797A probably damaging Het
Ahr A T 12: 35,554,325 (GRCm39) V598E possibly damaging Het
Akap10 A G 11: 61,806,099 (GRCm39) S210P probably benign Het
Asb5 G T 8: 55,036,582 (GRCm39) probably benign Het
AU041133 T C 10: 81,974,178 (GRCm39) V31A probably damaging Het
Bcar3 T C 3: 122,306,618 (GRCm39) V197A probably benign Het
Bptf A G 11: 106,990,559 (GRCm39) V510A possibly damaging Het
Ccar2 A T 14: 70,377,517 (GRCm39) D712E probably damaging Het
Cenpt G A 8: 106,576,297 (GRCm39) Q85* probably null Het
Ciita C A 16: 10,321,736 (GRCm39) H98N probably damaging Het
Cplane1 A C 15: 8,230,826 (GRCm39) K1034N probably damaging Het
Csn1s1 T A 5: 87,815,152 (GRCm39) M16K probably benign Het
Fah A G 7: 84,242,417 (GRCm39) I297T probably damaging Het
Fbxo25 A G 8: 13,979,423 (GRCm39) N214D probably benign Het
Frem3 A C 8: 81,337,719 (GRCm39) D4A probably benign Het
Gm3409 A G 5: 146,476,334 (GRCm39) K162E probably benign Het
Hoxd4 A T 2: 74,558,681 (GRCm39) E168V possibly damaging Het
Ifna6 A G 4: 88,745,695 (GRCm39) S15G possibly damaging Het
Iqck T A 7: 118,475,494 (GRCm39) H97Q probably benign Het
Kif16b T A 2: 142,553,789 (GRCm39) E1003V probably damaging Het
Lrp1b G A 2: 40,592,836 (GRCm39) P3761L probably benign Het
Mc4r C T 18: 66,992,597 (GRCm39) C172Y possibly damaging Het
Oosp1 T A 19: 11,664,744 (GRCm39) N104I probably damaging Het
Or2z9 A G 8: 72,854,341 (GRCm39) T246A probably benign Het
Pram1 A T 17: 33,861,117 (GRCm39) I513F probably damaging Het
Pramel18 T C 4: 101,767,125 (GRCm39) S125P probably benign Het
Rasef A G 4: 73,652,771 (GRCm39) S577P probably damaging Het
Rfx8 T C 1: 39,729,333 (GRCm39) D144G possibly damaging Het
Rreb1 A C 13: 38,113,550 (GRCm39) N303T possibly damaging Het
Rrn3 A T 16: 13,617,809 (GRCm39) K351* probably null Het
Sox30 A T 11: 45,908,035 (GRCm39) E734V probably damaging Het
Spns1 C T 7: 125,970,708 (GRCm39) probably null Het
Tgfbr2 T A 9: 115,939,370 (GRCm39) E177D probably benign Het
Tnfaip8l3 A G 9: 53,934,741 (GRCm39) M78T possibly damaging Het
Vmn2r92 C T 17: 18,387,114 (GRCm39) T151I probably damaging Het
Wwc1 A G 11: 35,806,111 (GRCm39) Y41H possibly damaging Het
Zfp407 A T 18: 84,578,922 (GRCm39) N730K probably damaging Het
Other mutations in Gxylt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00781:Gxylt1 APN 15 93,152,273 (GRCm39) missense probably damaging 0.98
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
R3157:Gxylt1 UTSW 15 93,142,913 (GRCm39) missense probably benign 0.28
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
Posted On 2016-08-02