Incidental Mutation 'R1159:Gxylt2'
ID101957
Institutional Source Beutler Lab
Gene Symbol Gxylt2
Ensembl Gene ENSMUSG00000030074
Gene Nameglucoside xylosyltransferase 2
SynonymsLOC232313, Glt8d4
MMRRC Submission 039232-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #R1159 (G1)
Quality Score155
Status Validated
Chromosome6
Chromosomal Location100704734-100810913 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 100804641 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 426 (M426V)
Ref Sequence ENSEMBL: ENSMUSP00000032157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032157]
Predicted Effect possibly damaging
Transcript: ENSMUST00000032157
AA Change: M426V

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032157
Gene: ENSMUSG00000030074
AA Change: M426V

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 55 89 N/A INTRINSIC
Pfam:Glyco_transf_8 112 364 1.5e-15 PFAM
Meta Mutation Damage Score 0.202 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 91.8%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a xylosyltransferase that elongates O-linked glucose bound to epidermal growth factor (EGF) repeats. The encoded protein catalyzes the addition of xylose to the O-glucose-modified residues of EGF repeats of Notch proteins. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,115,138 H164Y probably damaging Het
Acss2 T C 2: 155,551,218 I288T probably benign Het
Akap9 C T 5: 3,960,865 R541C probably damaging Het
Ano5 T C 7: 51,579,474 probably benign Het
Anp32b T C 4: 46,471,478 probably benign Het
Avil T C 10: 127,011,790 V528A possibly damaging Het
B020004J07Rik T C 4: 101,838,027 E29G possibly damaging Het
Cacna1c C T 6: 118,612,625 R1446H probably damaging Het
Cdk10 T C 8: 123,228,323 probably benign Het
Cfap65 A T 1: 74,929,340 F111Y probably damaging Het
Cryge A G 1: 65,050,808 F72L probably benign Het
Ercc3 C T 18: 32,264,558 T614I possibly damaging Het
Fgd5 T C 6: 91,988,502 I572T probably benign Het
Fubp1 A G 3: 152,215,592 D88G possibly damaging Het
Gcnt1 C A 19: 17,329,804 V186F possibly damaging Het
Gldc A T 19: 30,160,762 probably benign Het
Hps5 A T 7: 46,772,554 probably null Het
Igf2bp2 G A 16: 22,061,853 probably benign Het
Lamb2 T C 9: 108,481,408 S215P probably damaging Het
Mfsd13b T C 7: 121,014,543 M421T probably damaging Het
Mtif2 C A 11: 29,540,729 R478S possibly damaging Het
Nadk2 G A 15: 9,106,837 R351H possibly damaging Het
Nt5dc1 T C 10: 34,398,173 D167G possibly damaging Het
Nup98 T A 7: 102,160,716 T536S probably damaging Het
Parp14 G A 16: 35,856,760 A946V probably benign Het
Ppig T A 2: 69,750,224 S701T unknown Het
Ptprc A G 1: 138,072,319 S830P probably damaging Het
Rev3l T A 10: 39,851,925 L2690* probably null Het
Rgs22 A T 15: 36,040,693 S883T probably damaging Het
Rxfp4 A G 3: 88,652,587 W186R probably damaging Het
Sacm1l T C 9: 123,566,411 S200P probably benign Het
Serpinb6d T A 13: 33,671,229 D295E probably damaging Het
Slc38a10 A G 11: 120,105,475 V932A probably benign Het
Top2b T C 14: 16,430,329 S1568P possibly damaging Het
Tox T G 4: 6,697,600 N401T probably benign Het
Trim24 T C 6: 37,956,477 probably null Het
Unc79 T G 12: 103,047,052 probably benign Het
Vmn2r66 A T 7: 84,995,405 I599N probably benign Het
Zfa-ps T A 10: 52,543,558 noncoding transcript Het
Other mutations in Gxylt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01290:Gxylt2 APN 6 100750447 missense probably damaging 1.00
IGL01533:Gxylt2 APN 6 100783137 missense probably damaging 1.00
R0047:Gxylt2 UTSW 6 100733378 splice site probably benign
R0047:Gxylt2 UTSW 6 100733378 splice site probably benign
R0328:Gxylt2 UTSW 6 100750535 splice site probably benign
R2173:Gxylt2 UTSW 6 100798154 missense probably damaging 1.00
R2307:Gxylt2 UTSW 6 100787212 missense probably damaging 1.00
R4112:Gxylt2 UTSW 6 100783206 missense probably damaging 1.00
R4378:Gxylt2 UTSW 6 100733200 missense probably benign 0.00
R5032:Gxylt2 UTSW 6 100783181 missense probably benign 0.22
R5206:Gxylt2 UTSW 6 100804615 missense probably damaging 0.98
R5305:Gxylt2 UTSW 6 100787218 missense probably damaging 0.98
R5394:Gxylt2 UTSW 6 100705114 missense probably benign 0.01
R5497:Gxylt2 UTSW 6 100787329 missense probably benign 0.10
R5814:Gxylt2 UTSW 6 100733235 missense probably damaging 1.00
R5864:Gxylt2 UTSW 6 100783146 missense probably damaging 1.00
R6038:Gxylt2 UTSW 6 100804594 missense probably damaging 1.00
R6038:Gxylt2 UTSW 6 100804594 missense probably damaging 1.00
R6314:Gxylt2 UTSW 6 100798203 missense probably damaging 1.00
R7051:Gxylt2 UTSW 6 100804576 nonsense probably null
Predicted Primers
Posted On2014-01-15