Incidental Mutation 'R2173:Gxylt2'
ID 237615
Institutional Source Beutler Lab
Gene Symbol Gxylt2
Ensembl Gene ENSMUSG00000030074
Gene Name glucoside xylosyltransferase 2
Synonyms Glt8d4, LOC232313
MMRRC Submission 040175-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2173 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 100681638-100787738 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100775115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 345 (Y345H)
Ref Sequence ENSEMBL: ENSMUSP00000032157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032157]
AlphaFold Q810K9
Predicted Effect probably damaging
Transcript: ENSMUST00000032157
AA Change: Y345H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032157
Gene: ENSMUSG00000030074
AA Change: Y345H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203856
Meta Mutation Damage Score 0.4668 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 97% (66/68)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 T A 3: 127,477,239 (GRCm39) H273L probably damaging Het
Alpk3 A G 7: 80,726,648 (GRCm39) Y111C probably damaging Het
Anapc2 T G 2: 25,163,288 (GRCm39) V175G probably benign Het
Arhgap30 T C 1: 171,235,335 (GRCm39) S570P probably damaging Het
AU040320 T C 4: 126,686,069 (GRCm39) L215P probably benign Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Ccdc65 A G 15: 98,618,914 (GRCm39) N298D probably benign Het
Cfap70 T A 14: 20,458,630 (GRCm39) N727Y probably benign Het
Clcn7 A G 17: 25,364,583 (GRCm39) H63R probably benign Het
Corin A T 5: 72,661,422 (GRCm39) C24S probably benign Het
Cyp1a2 A G 9: 57,584,798 (GRCm39) W419R probably damaging Het
Dlgap4 C A 2: 156,604,732 (GRCm39) A256D probably damaging Het
Eif4enif1 A G 11: 3,192,367 (GRCm39) probably null Het
Eri2 A G 7: 119,385,766 (GRCm39) V245A possibly damaging Het
Erich6b T C 14: 75,896,332 (GRCm39) F73L probably benign Het
Fam110a A G 2: 151,812,429 (GRCm39) C114R probably damaging Het
Fam149a T C 8: 45,806,991 (GRCm39) D288G probably damaging Het
Fam171a1 T A 2: 3,226,656 (GRCm39) Y596* probably null Het
Fsd1 A G 17: 56,298,223 (GRCm39) T183A possibly damaging Het
Fut10 T A 8: 31,726,159 (GRCm39) Y305N probably damaging Het
Ganab A T 19: 8,879,624 (GRCm39) probably benign Het
Gm9922 G T 14: 101,967,012 (GRCm39) probably benign Het
Gp9 A G 6: 87,756,035 (GRCm39) T17A probably benign Het
Herc2 A G 7: 55,835,699 (GRCm39) H3269R probably benign Het
Hpx A T 7: 105,241,290 (GRCm39) S374T probably benign Het
Hspa5 T C 2: 34,664,674 (GRCm39) V376A probably damaging Het
Hyi T C 4: 118,219,381 (GRCm39) probably benign Het
Impdh2 G A 9: 108,442,593 (GRCm39) probably null Het
Kremen2 A C 17: 23,961,770 (GRCm39) W246G probably damaging Het
Krt87 A G 15: 101,385,818 (GRCm39) V259A probably damaging Het
L3mbtl4 A T 17: 68,894,188 (GRCm39) H398L probably damaging Het
Lama5 C A 2: 179,838,035 (GRCm39) V894L probably benign Het
Maml2 A G 9: 13,532,912 (GRCm39) probably benign Het
Nup153 A T 13: 46,855,076 (GRCm39) probably benign Het
Or10g6 T G 9: 39,934,550 (GRCm39) I287S probably damaging Het
Or2y15 G T 11: 49,350,967 (GRCm39) V154L probably benign Het
Or5k14 A G 16: 58,692,982 (GRCm39) F177S probably damaging Het
Or8b3b T C 9: 38,584,240 (GRCm39) I180V probably benign Het
Or9r7 G A 10: 129,962,372 (GRCm39) P185S probably benign Het
Otof C T 5: 30,543,718 (GRCm39) R582H probably damaging Het
Otud4 T C 8: 80,395,093 (GRCm39) S543P probably damaging Het
Pde6a A G 18: 61,387,453 (GRCm39) D448G probably damaging Het
Phgdh A G 3: 98,222,427 (GRCm39) V388A probably benign Het
Plin3 G T 17: 56,586,891 (GRCm39) D385E possibly damaging Het
Polg G T 7: 79,105,341 (GRCm39) D734E probably damaging Het
Pomt1 T C 2: 32,140,912 (GRCm39) Y515H probably damaging Het
Prr35 A C 17: 26,167,461 (GRCm39) H25Q probably damaging Het
Pwwp2a G A 11: 43,573,313 (GRCm39) A132T probably benign Het
Rbm6 A T 9: 107,729,390 (GRCm39) F419L possibly damaging Het
Rfx5 A G 3: 94,864,027 (GRCm39) probably null Het
Rnf135 G A 11: 80,080,066 (GRCm39) S119N probably benign Het
Scfd1 T A 12: 51,433,862 (GRCm39) D51E probably benign Het
Smox A T 2: 131,353,944 (GRCm39) E5D possibly damaging Het
Srpk2 T C 5: 23,723,613 (GRCm39) probably null Het
Syne2 T A 12: 76,147,763 (GRCm39) probably benign Het
Tcf20 A G 15: 82,738,893 (GRCm39) S853P possibly damaging Het
Tmem131l A G 3: 83,833,452 (GRCm39) F804L probably damaging Het
Ttll8 A G 15: 88,798,800 (GRCm39) L645P probably damaging Het
Ubr3 T A 2: 69,727,743 (GRCm39) H35Q probably benign Het
Uck1 GCCAACACC GCC 2: 32,146,088 (GRCm39) probably benign Het
Vmn2r70 A T 7: 85,214,290 (GRCm39) H287Q probably benign Het
Vps26a A T 10: 62,304,171 (GRCm39) I150N probably damaging Het
Zfp605 G A 5: 110,275,323 (GRCm39) R147H probably benign Het
Zfyve16 A G 13: 92,631,596 (GRCm39) M1333T probably damaging 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
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
R5206:Gxylt2 UTSW 6 100,781,576 (GRCm39) missense probably damaging 0.98
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'- GTGGCCCTTCAAACATTGATC -3'
(R):5'- GCACATCACATCATGCTGGAAC -3'

Sequencing Primer
(F):5'- ATTTGACCTGGGACTCATAGC -3'
(R):5'- TCATGCTGGAACAAGCAGTGC -3'
Posted On 2014-10-02