Incidental Mutation 'R5206:Gxylt2'
ID 402026
Institutional Source Beutler Lab
Gene Symbol Gxylt2
Ensembl Gene ENSMUSG00000030074
Gene Name glucoside xylosyltransferase 2
Synonyms Glt8d4, LOC232313
MMRRC Submission 042781-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5206 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 100681638-100787738 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100781576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 417 (V417A)
Ref Sequence ENSEMBL: ENSMUSP00000032157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032157]
AlphaFold Q810K9
Predicted Effect probably damaging
Transcript: ENSMUST00000032157
AA Change: V417A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032157
Gene: ENSMUSG00000030074
AA Change: V417A

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,772,272 (GRCm39) E487G probably benign Het
2610021A01Rik A T 7: 41,276,009 (GRCm39) K571* probably null Het
A2m T C 6: 121,651,766 (GRCm39) V1278A probably damaging Het
Abcc2 T C 19: 43,806,589 (GRCm39) V801A probably damaging Het
Acod1 T A 14: 103,292,731 (GRCm39) D418E possibly damaging Het
Bsn G A 9: 107,982,572 (GRCm39) A3727V unknown Het
Cmah T G 13: 24,648,267 (GRCm39) F501V probably damaging Het
Csf2rb2 T A 15: 78,176,952 (GRCm39) I173L probably benign Het
Dnah12 T C 14: 26,491,942 (GRCm39) W1126R probably damaging Het
Dock5 G T 14: 68,000,633 (GRCm39) A1690E probably benign Het
Dop1b T C 16: 93,598,472 (GRCm39) L1879P probably damaging Het
Eif3j2 A T 18: 43,610,647 (GRCm39) D55E probably benign Het
Fam83f G A 15: 80,576,255 (GRCm39) G302D possibly damaging Het
Fus G A 7: 127,568,969 (GRCm39) G40D unknown Het
Glrp1 GTGCTGCTGCTGCTGCTGCTGCTGCTG GTGCTGCTGCTGCTGCTGCTGCTG 1: 88,430,997 (GRCm39) probably benign Het
Hhipl1 G A 12: 108,278,437 (GRCm39) R255H probably damaging Het
Ints8 A T 4: 11,216,477 (GRCm39) I838N possibly damaging Het
Lama5 C A 2: 179,833,097 (GRCm39) C1579F probably damaging Het
Med13 C T 11: 86,210,705 (GRCm39) R479H probably damaging Het
Or51ag1 A T 7: 103,155,309 (GRCm39) Y281* probably null Het
Or5b113 G T 19: 13,342,429 (GRCm39) G146C possibly damaging Het
Or5k15 G T 16: 58,710,381 (GRCm39) N67K probably damaging Het
Or6e1 T A 14: 54,520,155 (GRCm39) M66L probably benign Het
Or9g3 T A 2: 85,589,967 (GRCm39) Y251F probably benign Het
Pak6 A G 2: 118,523,784 (GRCm39) E313G probably benign Het
Pigs T A 11: 78,224,549 (GRCm39) Y145N probably damaging Het
Pla2g2f T A 4: 138,479,662 (GRCm39) D165V probably benign Het
Plbd1 C T 6: 136,618,154 (GRCm39) V133M probably benign Het
Ppp1r14bl C T 1: 23,141,183 (GRCm39) G44R probably benign Het
Ryr3 T C 2: 112,675,056 (GRCm39) Y1352C probably damaging Het
Scamp1 C T 13: 94,368,615 (GRCm39) R51H probably damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Slc2a2 G A 3: 28,762,756 (GRCm39) V100M probably damaging Het
Slc38a10 C G 11: 119,995,888 (GRCm39) A1062P probably damaging Het
Snai1 T C 2: 167,380,888 (GRCm39) I127T probably benign Het
Stat4 G A 1: 52,144,395 (GRCm39) G692D probably damaging Het
Stc1 A T 14: 69,269,048 (GRCm39) D72V probably damaging Het
Tmc1 T C 19: 20,804,024 (GRCm39) N351S probably damaging Het
Trim28 A G 7: 12,759,275 (GRCm39) I130V probably benign Het
Trim39 A G 17: 36,571,382 (GRCm39) Y459H probably damaging Het
Ugt1a6b C A 1: 88,035,170 (GRCm39) Y169* probably null Het
Vasp T C 7: 18,992,780 (GRCm39) probably benign Het
Vmn2r99 G T 17: 19,598,868 (GRCm39) G184V probably benign Het
Xrcc1 C T 7: 24,266,988 (GRCm39) T358I probably damaging Het
Zfp219 A G 14: 52,247,022 (GRCm39) V35A probably benign Het
Other mutations in Gxylt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01290:Gxylt2 APN 6 100,727,408 (GRCm39) missense probably damaging 1.00
IGL01533:Gxylt2 APN 6 100,760,098 (GRCm39) missense probably damaging 1.00
R0047:Gxylt2 UTSW 6 100,710,339 (GRCm39) splice site probably benign
R0047:Gxylt2 UTSW 6 100,710,339 (GRCm39) splice site probably benign
R0328:Gxylt2 UTSW 6 100,727,496 (GRCm39) splice site probably benign
R1159:Gxylt2 UTSW 6 100,781,602 (GRCm39) missense possibly damaging 0.82
R2173:Gxylt2 UTSW 6 100,775,115 (GRCm39) missense probably damaging 1.00
R2307:Gxylt2 UTSW 6 100,764,173 (GRCm39) missense probably damaging 1.00
R4112:Gxylt2 UTSW 6 100,760,167 (GRCm39) missense probably damaging 1.00
R4378:Gxylt2 UTSW 6 100,710,161 (GRCm39) missense probably benign 0.00
R5032:Gxylt2 UTSW 6 100,760,142 (GRCm39) missense probably benign 0.22
R5305:Gxylt2 UTSW 6 100,764,179 (GRCm39) missense probably damaging 0.98
R5394:Gxylt2 UTSW 6 100,682,075 (GRCm39) missense probably benign 0.01
R5497:Gxylt2 UTSW 6 100,764,290 (GRCm39) missense probably benign 0.10
R5814:Gxylt2 UTSW 6 100,710,196 (GRCm39) missense probably damaging 1.00
R5864:Gxylt2 UTSW 6 100,760,107 (GRCm39) missense probably damaging 1.00
R6038:Gxylt2 UTSW 6 100,781,555 (GRCm39) missense probably damaging 1.00
R6038:Gxylt2 UTSW 6 100,781,555 (GRCm39) missense probably damaging 1.00
R6314:Gxylt2 UTSW 6 100,775,164 (GRCm39) missense probably damaging 1.00
R7051:Gxylt2 UTSW 6 100,781,537 (GRCm39) nonsense probably null
R7375:Gxylt2 UTSW 6 100,727,383 (GRCm39) missense probably benign 0.28
R7607:Gxylt2 UTSW 6 100,775,151 (GRCm39) missense possibly damaging 0.95
R7617:Gxylt2 UTSW 6 100,760,146 (GRCm39) missense probably damaging 1.00
R7658:Gxylt2 UTSW 6 100,760,104 (GRCm39) missense probably damaging 1.00
R7685:Gxylt2 UTSW 6 100,781,489 (GRCm39) missense probably benign 0.01
R7744:Gxylt2 UTSW 6 100,760,278 (GRCm39) missense probably damaging 0.99
R7980:Gxylt2 UTSW 6 100,764,170 (GRCm39) critical splice acceptor site probably null
R8093:Gxylt2 UTSW 6 100,710,188 (GRCm39) missense probably damaging 1.00
R8743:Gxylt2 UTSW 6 100,764,284 (GRCm39) missense probably benign 0.01
R8777:Gxylt2 UTSW 6 100,727,432 (GRCm39) missense probably damaging 0.99
R8777-TAIL:Gxylt2 UTSW 6 100,727,432 (GRCm39) missense probably damaging 0.99
R8871:Gxylt2 UTSW 6 100,760,109 (GRCm39) missense probably damaging 0.99
R9130:Gxylt2 UTSW 6 100,710,329 (GRCm39) nonsense probably null
R9524:Gxylt2 UTSW 6 100,727,416 (GRCm39) missense probably benign 0.22
R9691:Gxylt2 UTSW 6 100,760,109 (GRCm39) missense probably damaging 1.00
R9694:Gxylt2 UTSW 6 100,710,174 (GRCm39) missense probably benign 0.25
R9776:Gxylt2 UTSW 6 100,682,072 (GRCm39) nonsense probably null
Z1176:Gxylt2 UTSW 6 100,760,152 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCACTGGGCCAAAGCTTAG -3'
(R):5'- TTGAACCGCAACAGTCACAGAG -3'

Sequencing Primer
(F):5'- TTAATCCCAGCATTCGGGAG -3'
(R):5'- AGTCACAGAGCACCATTAAATATTC -3'
Posted On 2016-07-22