Incidental Mutation 'R5570:Gxylt1'
ID 435637
Institutional Source Beutler Lab
Gene Symbol Gxylt1
Ensembl Gene ENSMUSG00000036197
Gene Name glucoside xylosyltransferase 1
Synonyms LOC382997, LOC223827, Glt8d3
MMRRC Submission 043127-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5570 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 93137623-93173060 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 93152180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049484] [ENSMUST00000057896] [ENSMUST00000230063]
AlphaFold Q3UHH8
Predicted Effect probably null
Transcript: ENSMUST00000049484
SMART Domains Protein: ENSMUSP00000047281
Gene: ENSMUSG00000036197

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 probably null
Transcript: ENSMUST00000057896
SMART Domains Protein: ENSMUSP00000081947
Gene: ENSMUSG00000036197

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 probably null
Transcript: ENSMUST00000230063
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.5%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrv1 C A 9: 36,605,577 (GRCm39) S41R probably damaging Het
Aqr G A 2: 113,979,451 (GRCm39) T328M probably damaging Het
Arhgap26 C A 18: 39,232,671 (GRCm39) D99E probably damaging Het
Boc G A 16: 44,313,187 (GRCm39) T559I probably damaging Het
Cadps A T 14: 12,473,497 (GRCm38) I876N possibly damaging Het
Cep72 T C 13: 74,188,260 (GRCm39) Q211R probably benign Het
Clmp T C 9: 40,683,826 (GRCm39) probably null Het
Coq6 T A 12: 84,415,413 (GRCm39) D145E probably benign Het
Crym T C 7: 119,801,116 (GRCm39) E11G probably benign Het
Defb36 T A 2: 152,454,503 (GRCm39) V54E probably damaging Het
Dlg5 C A 14: 24,242,981 (GRCm39) E55* probably null Het
Dock2 G T 11: 34,618,233 (GRCm39) R128S probably damaging Het
E330034G19Rik A G 14: 24,346,892 (GRCm39) K60E possibly damaging Het
Eps8l2 G A 7: 140,934,920 (GRCm39) R76Q possibly damaging Het
Espn T C 4: 152,208,237 (GRCm39) E460G probably damaging Het
Fbxl18 A G 5: 142,881,022 (GRCm39) probably benign Het
Fgd5 T C 6: 91,965,668 (GRCm39) S476P probably damaging Het
Gsto1 T C 19: 47,846,338 (GRCm39) W62R probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hs6st1 C T 1: 36,142,719 (GRCm39) P218L probably benign Het
Kif5c A G 2: 49,620,211 (GRCm39) D226G possibly damaging Het
Krt1 A G 15: 101,755,340 (GRCm39) F473S probably benign Het
Lpxn T A 19: 12,810,023 (GRCm39) M265K possibly damaging Het
Map3k9 A G 12: 81,778,798 (GRCm39) L505P possibly damaging Het
Mcm3ap C T 10: 76,316,930 (GRCm39) R645W possibly damaging Het
Msr1 T C 8: 40,064,760 (GRCm39) I305V probably benign Het
Muc4 A G 16: 32,598,066 (GRCm39) E3237G possibly damaging Het
Necap1 T C 6: 122,858,471 (GRCm39) F105L probably damaging Het
Nploc4 C T 11: 120,275,440 (GRCm39) V499M probably benign Het
Nup93 T C 8: 95,041,298 (GRCm39) V812A probably damaging Het
Or10ak7 T A 4: 118,791,263 (GRCm39) I259F possibly damaging Het
Or6e1 A G 14: 54,519,825 (GRCm39) F176L probably damaging Het
Or9g3 G A 2: 85,589,994 (GRCm39) S242F probably damaging Het
Parn G A 16: 13,483,794 (GRCm39) P50L probably damaging Het
Pcdhb7 T C 18: 37,477,224 (GRCm39) C787R probably benign Het
Pdk2 A T 11: 94,920,826 (GRCm39) I175N probably damaging Het
Pelo T C 13: 115,226,152 (GRCm39) I102V probably benign Het
Phf12 A G 11: 77,908,937 (GRCm39) D339G possibly damaging Het
Phlpp1 A T 1: 106,101,162 (GRCm39) I477F probably benign Het
Pigt T A 2: 164,343,482 (GRCm39) Y319* probably null Het
Pmpca A G 2: 26,280,553 (GRCm39) E133G probably damaging Het
Ptgs2 A G 1: 149,979,859 (GRCm39) I321M Het
Pus7l G A 15: 94,425,746 (GRCm39) P552S probably benign Het
Qsox2 A G 2: 26,115,230 (GRCm39) M1T probably null Het
Rara C G 11: 98,863,478 (GRCm39) R382G probably damaging Het
Rbbp6 A G 7: 122,601,057 (GRCm39) probably benign Het
Rev3l T C 10: 39,728,071 (GRCm39) probably null Het
Robo3 T A 9: 37,336,571 (GRCm39) Y399F possibly damaging Het
Rpl31 C T 1: 39,409,108 (GRCm39) R41C probably benign Het
Skint3 A G 4: 112,092,995 (GRCm39) M20V probably benign Het
Slc17a6 A G 7: 51,308,504 (GRCm39) D276G probably benign Het
Sult3a2 A T 10: 33,654,268 (GRCm39) V128D probably damaging Het
Syt3 T A 7: 44,040,043 (GRCm39) V92E possibly damaging Het
Them7 A G 2: 105,209,153 (GRCm39) T158A probably benign Het
Utp14b G A 1: 78,643,118 (GRCm39) D339N probably damaging Het
Vars1 T C 17: 35,235,214 (GRCm39) F1259L probably benign Het
Vmn1r115 A C 7: 20,578,555 (GRCm39) V119G possibly damaging Het
Zc3h12a C T 4: 125,014,166 (GRCm39) R293H probably damaging Het
Zfp638 A T 6: 83,956,170 (GRCm39) E1592D probably damaging Het
Other mutations in Gxylt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00781:Gxylt1 APN 15 93,152,273 (GRCm39) missense probably damaging 0.98
IGL03403:Gxylt1 APN 15 93,159,656 (GRCm39) missense possibly damaging 0.71
PIT4260001:Gxylt1 UTSW 15 93,159,708 (GRCm39) missense probably damaging 1.00
R0040:Gxylt1 UTSW 15 93,152,436 (GRCm39) splice site probably benign
R0040:Gxylt1 UTSW 15 93,152,436 (GRCm39) splice site probably benign
R1033:Gxylt1 UTSW 15 93,142,958 (GRCm39) missense probably benign 0.00
R1413:Gxylt1 UTSW 15 93,152,273 (GRCm39) missense probably damaging 0.98
R2132:Gxylt1 UTSW 15 93,142,851 (GRCm39) makesense probably null
R2144:Gxylt1 UTSW 15 93,152,361 (GRCm39) missense probably benign 0.31
R3157:Gxylt1 UTSW 15 93,142,913 (GRCm39) missense probably benign 0.28
R3159:Gxylt1 UTSW 15 93,142,913 (GRCm39) missense probably benign 0.28
R5436:Gxylt1 UTSW 15 93,145,780 (GRCm39) missense probably damaging 1.00
R5567:Gxylt1 UTSW 15 93,152,180 (GRCm39) critical splice donor site probably null
R5599:Gxylt1 UTSW 15 93,152,198 (GRCm39) small deletion probably benign
R5656:Gxylt1 UTSW 15 93,143,542 (GRCm39) missense probably damaging 1.00
R7650:Gxylt1 UTSW 15 93,143,539 (GRCm39) missense probably benign 0.31
R9369:Gxylt1 UTSW 15 93,172,896 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- CACACAGGACATGTTAATTGTCTTC -3'
(R):5'- CTGTTGTATGTGGACACTGATATCC -3'

Sequencing Primer
(F):5'- CGTATAGTTAGCGACTGAGCCATC -3'
(R):5'- ACGACCTGTTGATGATATTTGGTC -3'
Posted On 2016-10-24