Incidental Mutation 'IGL03403:Gxylt1'
ID421494
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? Essential (E-score: 1.000) question?
Stock #IGL03403
Quality Score
Status
Chromosome15
Chromosomal Location93239742-93275179 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 93261775 bp
ZygosityHeterozygous
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]
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
2410089E03Rik A C 15: 8,201,342 K1034N probably damaging Het
Adamts12 T A 15: 11,241,488 I382N probably damaging Het
Adamts5 T C 16: 85,863,014 T797A probably damaging Het
Ahr A T 12: 35,504,326 V598E possibly damaging Het
Akap10 A G 11: 61,915,273 S210P probably benign Het
Asb5 G T 8: 54,583,547 probably benign Het
AU041133 T C 10: 82,138,344 V31A probably damaging Het
Bcar3 T C 3: 122,512,969 V197A probably benign Het
Bptf A G 11: 107,099,733 V510A possibly damaging Het
Ccar2 A T 14: 70,140,068 D712E probably damaging Het
Cenpt G A 8: 105,849,665 Q85* probably null Het
Ciita C A 16: 10,503,872 H98N probably damaging Het
Csn1s1 T A 5: 87,667,293 M16K probably benign Het
Fah A G 7: 84,593,209 I297T probably damaging Het
Fbxo25 A G 8: 13,929,423 N214D probably benign Het
Frem3 A C 8: 80,611,090 D4A probably benign Het
Gm12800 T C 4: 101,909,928 S125P probably benign Het
Gm3409 A G 5: 146,539,524 K162E probably benign Het
Hoxd4 A T 2: 74,728,337 E168V possibly damaging Het
Ifna6 A G 4: 88,827,458 S15G possibly damaging Het
Iqck T A 7: 118,876,271 H97Q probably benign Het
Kif16b T A 2: 142,711,869 E1003V probably damaging Het
Lrp1b G A 2: 40,702,824 P3761L probably benign Het
Mc4r C T 18: 66,859,526 C172Y possibly damaging Het
Olfr373 A G 8: 72,100,497 T246A probably benign Het
Oosp1 T A 19: 11,687,380 N104I probably damaging Het
Pram1 A T 17: 33,642,143 I513F probably damaging Het
Rasef A G 4: 73,734,534 S577P probably damaging Het
Rfx8 T C 1: 39,690,173 D144G possibly damaging Het
Rreb1 A C 13: 37,929,574 N303T possibly damaging Het
Rrn3 A T 16: 13,799,945 K351* probably null Het
Sox30 A T 11: 46,017,208 E734V probably damaging Het
Spns1 C T 7: 126,371,536 probably null Het
Tgfbr2 T A 9: 116,110,302 E177D probably benign Het
Tnfaip8l3 A G 9: 54,027,457 M78T possibly damaging Het
Vmn2r92 C T 17: 18,166,852 T151I probably damaging Het
Wwc1 A G 11: 35,915,284 Y41H possibly damaging Het
Zfp407 A T 18: 84,560,797 N730K probably damaging Het
Other mutations in Gxylt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00781:Gxylt1 APN 15 93254392 missense probably damaging 0.98
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
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
R7650:Gxylt1 UTSW 15 93245658 missense probably benign 0.31
Posted On2016-08-02