Incidental Mutation 'R0023:Xylt1'
ID 18701
Institutional Source Beutler Lab
Gene Symbol Xylt1
Ensembl Gene ENSMUSG00000030657
Gene Name xylosyltransferase 1
Synonyms
MMRRC Submission 038318-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R0023 (G1)
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 116980214-117266853 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 117233928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 485 (G485V)
Ref Sequence ENSEMBL: ENSMUSP00000032892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032892]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032892
AA Change: G485V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032892
Gene: ENSMUSG00000030657
AA Change: G485V

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
low complexity region 41 68 N/A INTRINSIC
low complexity region 75 104 N/A INTRINSIC
Pfam:Branch 322 577 7.8e-53 PFAM
Pfam:Xylo_C 607 787 2.6e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160035
Meta Mutation Damage Score 0.8473 question?
Coding Region Coverage
  • 1x: 78.2%
  • 3x: 67.5%
  • 10x: 40.9%
  • 20x: 21.9%
Validation Efficiency 89% (77/87)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.[provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit partial preweaning lethality, impaired chondrocyte maturation and decreased skeletal length. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 A C 4: 144,255,567 (GRCm39) D329A probably damaging Het
Abcc12 T A 8: 87,264,962 (GRCm39) H661L probably damaging Het
Acsbg2 C G 17: 57,154,710 (GRCm39) A481P probably damaging Het
Aknad1 T A 3: 108,688,501 (GRCm39) C610S probably benign Het
Anapc1 T A 2: 128,520,138 (GRCm39) K226N probably damaging Het
Aqp11 A T 7: 97,375,896 (GRCm39) I251N possibly damaging Het
Arid1a G T 4: 133,418,487 (GRCm39) T1032K unknown Het
Atg16l1 T C 1: 87,717,187 (GRCm39) V538A probably benign Het
Atp7b A T 8: 22,501,089 (GRCm39) L938Q probably damaging Het
Bbs1 C T 19: 4,956,042 (GRCm39) A44T probably damaging Het
Btbd9 A T 17: 30,749,188 (GRCm39) V42E probably damaging Het
Carmil3 C G 14: 55,730,333 (GRCm39) S15R probably damaging Het
Cfap44 T A 16: 44,241,583 (GRCm39) F651L probably benign Het
Clcn3 A T 8: 61,386,104 (GRCm39) probably benign Het
Copb1 A T 7: 113,849,329 (GRCm39) D91E probably benign Het
Ctr9 G A 7: 110,643,154 (GRCm39) A509T possibly damaging Het
Dst C T 1: 34,228,200 (GRCm39) P1606L probably damaging Het
Emc1 A G 4: 139,098,320 (GRCm39) D767G probably damaging Het
Fads1 G A 19: 10,164,261 (GRCm39) probably benign Het
Fcgbpl1 A G 7: 27,852,837 (GRCm39) K1375E probably benign Het
Frrs1 T C 3: 116,690,437 (GRCm39) F27L probably damaging Het
Itga2 G A 13: 115,007,032 (GRCm39) S432L possibly damaging Het
Lrig3 A C 10: 125,846,088 (GRCm39) D839A probably damaging Het
Macf1 A T 4: 123,382,107 (GRCm39) probably benign Het
Myo6 T C 9: 80,190,816 (GRCm39) V789A possibly damaging Het
Nasp A G 4: 116,462,968 (GRCm39) probably benign Het
Nsmaf A G 4: 6,408,680 (GRCm39) Y700H probably damaging Het
Plekhs1 T G 19: 56,466,948 (GRCm39) S260A probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
R3hdm1 T C 1: 128,138,929 (GRCm39) probably benign Het
Rtcb A T 10: 85,785,315 (GRCm39) probably benign Het
Suco A T 1: 161,673,154 (GRCm39) probably null Het
Synrg G T 11: 83,899,479 (GRCm39) D562Y probably damaging Het
Tfip11 T C 5: 112,479,875 (GRCm39) S265P possibly damaging Het
Ucp3 G T 7: 100,134,250 (GRCm39) V288L probably benign Het
Yars1 A G 4: 129,090,981 (GRCm39) T130A probably benign Het
Zfp652 A T 11: 95,644,295 (GRCm39) R205* probably null Het
Other mutations in Xylt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Xylt1 APN 7 117,249,912 (GRCm39) missense probably damaging 0.99
IGL01306:Xylt1 APN 7 117,148,125 (GRCm39) missense probably benign 0.00
IGL01656:Xylt1 APN 7 117,148,228 (GRCm39) missense probably damaging 1.00
IGL02152:Xylt1 APN 7 117,233,997 (GRCm39) missense probably damaging 1.00
IGL02188:Xylt1 APN 7 117,233,964 (GRCm39) missense probably damaging 1.00
IGL02732:Xylt1 APN 7 117,191,164 (GRCm39) missense possibly damaging 0.75
IGL02944:Xylt1 APN 7 117,233,984 (GRCm39) missense probably benign 0.00
IGL03308:Xylt1 APN 7 117,236,978 (GRCm39) nonsense probably null
IGL03393:Xylt1 APN 7 117,192,940 (GRCm39) missense probably damaging 1.00
phloem UTSW 7 117,255,807 (GRCm39) missense probably damaging 1.00
xylem UTSW 7 117,191,263 (GRCm39) missense probably damaging 1.00
ANU23:Xylt1 UTSW 7 117,148,125 (GRCm39) missense probably benign 0.00
PIT4378001:Xylt1 UTSW 7 117,148,100 (GRCm39) missense possibly damaging 0.83
R0023:Xylt1 UTSW 7 117,233,928 (GRCm39) missense probably damaging 1.00
R0970:Xylt1 UTSW 7 117,233,963 (GRCm39) missense probably damaging 0.96
R1433:Xylt1 UTSW 7 117,191,179 (GRCm39) missense possibly damaging 0.51
R1762:Xylt1 UTSW 7 117,236,988 (GRCm39) missense probably benign 0.00
R2169:Xylt1 UTSW 7 117,266,660 (GRCm39) missense probably damaging 1.00
R2937:Xylt1 UTSW 7 117,234,011 (GRCm39) missense probably benign 0.04
R3024:Xylt1 UTSW 7 117,147,883 (GRCm39) missense probably damaging 1.00
R3855:Xylt1 UTSW 7 117,192,777 (GRCm39) missense probably damaging 1.00
R4006:Xylt1 UTSW 7 117,074,748 (GRCm39) missense probably benign 0.01
R4329:Xylt1 UTSW 7 117,255,684 (GRCm39) missense probably damaging 1.00
R4794:Xylt1 UTSW 7 117,236,862 (GRCm39) missense probably benign 0.07
R4975:Xylt1 UTSW 7 117,266,565 (GRCm39) missense probably damaging 1.00
R5225:Xylt1 UTSW 7 117,191,263 (GRCm39) missense probably damaging 1.00
R5679:Xylt1 UTSW 7 117,242,877 (GRCm39) missense probably damaging 1.00
R5707:Xylt1 UTSW 7 117,255,717 (GRCm39) missense possibly damaging 0.95
R5756:Xylt1 UTSW 7 117,249,927 (GRCm39) missense probably damaging 0.97
R5802:Xylt1 UTSW 7 117,255,914 (GRCm39) missense probably benign 0.43
R6057:Xylt1 UTSW 7 117,191,135 (GRCm39) missense probably benign 0.02
R6249:Xylt1 UTSW 7 117,266,528 (GRCm39) missense probably benign 0.11
R6298:Xylt1 UTSW 7 117,255,960 (GRCm39) missense probably damaging 0.96
R7159:Xylt1 UTSW 7 117,236,829 (GRCm39) missense probably damaging 1.00
R7198:Xylt1 UTSW 7 117,255,807 (GRCm39) missense probably damaging 1.00
R7323:Xylt1 UTSW 7 117,191,274 (GRCm39) critical splice donor site probably null
R7449:Xylt1 UTSW 7 117,191,232 (GRCm39) missense possibly damaging 0.55
R7545:Xylt1 UTSW 7 117,192,812 (GRCm39) missense probably benign 0.11
R7786:Xylt1 UTSW 7 117,242,702 (GRCm39) splice site probably null
R7849:Xylt1 UTSW 7 117,255,891 (GRCm39) missense probably benign 0.06
R7867:Xylt1 UTSW 7 117,074,749 (GRCm39) missense probably benign 0.12
R8169:Xylt1 UTSW 7 117,249,846 (GRCm39) missense probably damaging 0.99
R8686:Xylt1 UTSW 7 116,980,594 (GRCm39) missense unknown
R8942:Xylt1 UTSW 7 117,233,971 (GRCm39) nonsense probably null
R9019:Xylt1 UTSW 7 117,250,038 (GRCm39) critical splice donor site probably null
R9209:Xylt1 UTSW 7 117,255,870 (GRCm39) missense probably benign 0.02
R9393:Xylt1 UTSW 7 117,242,906 (GRCm39) missense probably benign
R9721:Xylt1 UTSW 7 117,148,255 (GRCm39) missense probably damaging 0.99
Posted On 2013-03-25