Incidental Mutation 'IGL01533:Gxylt2'
ID89832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gxylt2
Ensembl Gene ENSMUSG00000030074
Gene Nameglucoside xylosyltransferase 2
SynonymsLOC232313, Glt8d4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01533
Quality Score
Status
Chromosome6
Chromosomal Location100704734-100810913 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 100783137 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 211 (L211P)
Ref Sequence ENSEMBL: ENSMUSP00000032157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032157]
Predicted Effect probably damaging
Transcript: ENSMUST00000032157
AA Change: L211P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032157
Gene: ENSMUSG00000030074
AA Change: L211P

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
Coding Region Coverage
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C A 18: 67,405,418 E757* probably null Het
Arhgap15 T C 2: 44,243,153 V357A probably damaging Het
Asb13 T C 13: 3,642,164 V48A probably benign Het
Bbs7 T C 3: 36,610,235 R74G possibly damaging Het
Capn11 T C 17: 45,632,904 H568R probably benign Het
Cbx5 T C 15: 103,205,634 E61G probably damaging Het
Ccdc158 T C 5: 92,609,956 probably null Het
Col14a1 C A 15: 55,420,840 N832K unknown Het
Cyp2a4 A T 7: 26,308,544 K125N probably damaging Het
Dhx16 T C 17: 35,882,047 L215P probably damaging Het
Dtx4 T C 19: 12,478,215 M480V possibly damaging Het
Edaradd A G 13: 12,478,582 probably benign Het
Galnt13 T A 2: 54,880,132 M312K probably damaging Het
Gcdh T A 8: 84,889,362 R337W probably damaging Het
Gm28557 A T 13: 67,071,332 C109* probably null Het
Gpr22 C T 12: 31,708,710 probably benign Het
Gria4 T G 9: 4,502,395 L379F probably damaging Het
Igsf10 T A 3: 59,319,230 I2341F probably damaging Het
Macf1 T C 4: 123,473,873 D2365G probably damaging Het
Morc2b A G 17: 33,135,721 probably benign Het
Ncoa3 T C 2: 166,055,025 S579P probably benign Het
Nlgn1 T C 3: 25,436,363 N400S possibly damaging Het
Olfr1141 C A 2: 87,753,068 R308S probably benign Het
Olfr146 C T 9: 39,018,801 A247T probably damaging Het
Pi4ka A G 16: 17,308,201 S1102P probably benign Het
Polr1e A G 4: 45,019,328 Y59C probably damaging Het
Prex2 C T 1: 11,186,741 Q1226* probably null Het
Rab12 A T 17: 66,497,435 I176K probably damaging Het
Ryr2 A T 13: 11,721,790 N2250K probably damaging Het
Sbf1 T C 15: 89,288,716 T1865A probably damaging Het
Sema6b G A 17: 56,129,499 probably benign Het
Smarcb1 C T 10: 75,916,768 probably null Het
Sos1 A G 17: 80,415,082 L845S probably damaging Het
Stat4 T A 1: 52,098,419 N456K probably damaging Het
Tex264 A G 9: 106,673,599 I133T probably benign Het
Thoc1 T C 18: 9,962,376 V87A probably benign Het
Tmem131 C T 1: 36,818,722 D778N probably damaging Het
Tspan14 A G 14: 40,916,819 I88T probably benign Het
Ttn A G 2: 76,951,941 S984P probably damaging Het
Ttn C A 2: 76,732,574 V28679L possibly damaging Het
Vangl1 T C 3: 102,163,351 E423G possibly damaging Het
Other mutations in Gxylt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01290:Gxylt2 APN 6 100750447 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
R1159:Gxylt2 UTSW 6 100804641 missense possibly damaging 0.82
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
R7375:Gxylt2 UTSW 6 100750422 missense probably benign 0.28
Posted On2013-12-03