Incidental Mutation 'R5225:Xylt1'
ID 402556
Institutional Source Beutler Lab
Gene Symbol Xylt1
Ensembl Gene ENSMUSG00000030657
Gene Name xylosyltransferase 1
Synonyms
MMRRC Submission 042798-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R5225 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 116980214-117266853 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117191263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 353 (H353R)
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: H353R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032892
Gene: ENSMUSG00000030657
AA Change: H353R

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 0.9277 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (70/70)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik C T 17: 9,226,839 (GRCm39) R465* probably null Het
Abcg3 A T 5: 105,114,649 (GRCm39) D289E probably damaging Het
Ablim2 G T 5: 36,024,115 (GRCm39) probably null Het
Acp1 A T 12: 30,955,078 (GRCm39) V36D probably benign Het
Adgrb1 T A 15: 74,449,348 (GRCm39) probably benign Het
Akap6 G A 12: 52,933,329 (GRCm39) V274I probably damaging Het
Arhgap39 T C 15: 76,609,715 (GRCm39) probably benign Het
Bmp1 G A 14: 70,717,605 (GRCm39) R789W probably damaging Het
Catspere2 A T 1: 177,976,474 (GRCm39) probably benign Het
Cfhr2 T A 1: 139,749,520 (GRCm39) Y154F possibly damaging Het
Cilp2 T C 8: 70,336,015 (GRCm39) Y358C probably damaging Het
Cyp1a2 T A 9: 57,584,516 (GRCm39) K513* probably null Het
Dennd4a G T 9: 64,796,210 (GRCm39) K745N possibly damaging Het
Dlg1 T A 16: 31,655,085 (GRCm39) S542T probably benign Het
Dmbt1 A T 7: 130,696,465 (GRCm39) I893F possibly damaging Het
Dnhd1 A T 7: 105,353,130 (GRCm39) E2761V possibly damaging Het
F11 T C 8: 45,708,341 (GRCm39) T40A probably benign Het
Fam227a T C 15: 79,520,936 (GRCm39) D296G possibly damaging Het
Fance C T 17: 28,534,589 (GRCm39) probably benign Het
Gaa A G 11: 119,167,669 (GRCm39) D149G probably damaging Het
Gapt A G 13: 110,490,522 (GRCm39) M47T possibly damaging Het
Gm1110 T C 9: 26,813,774 (GRCm39) N202D probably damaging Het
Gm7535 T C 17: 18,131,809 (GRCm39) probably benign Het
Gm973 T A 1: 59,601,859 (GRCm39) M491K probably benign Het
Gmnc A G 16: 26,782,695 (GRCm39) V27A probably benign Het
Kif27 T C 13: 58,440,915 (GRCm39) T1167A possibly damaging Het
Klrg1 T A 6: 122,248,331 (GRCm39) *189C probably null Het
Lime1 T A 2: 181,024,640 (GRCm39) M98K probably benign Het
Lrp1 C A 10: 127,391,965 (GRCm39) A2867S probably benign Het
Lrrd1 G A 5: 3,908,735 (GRCm39) S669N probably benign Het
Mmel1 A G 4: 154,976,456 (GRCm39) N520S probably damaging Het
Mrpl48 A C 7: 100,198,535 (GRCm39) L206V probably damaging Het
Nagpa C T 16: 5,021,596 (GRCm39) A52T probably benign Het
Or1o3 A G 17: 37,573,919 (GRCm39) V212A probably benign Het
Or4c3 T G 2: 89,851,528 (GRCm39) D294A probably benign Het
Orai2 A G 5: 136,190,355 (GRCm39) S71P probably damaging Het
Pcbp1 A T 6: 86,502,209 (GRCm39) I230N probably damaging Het
Pcdh15 T C 10: 74,138,986 (GRCm39) L349P probably damaging Het
Pcdhb16 T C 18: 37,613,011 (GRCm39) V657A probably benign Het
Prdm15 G T 16: 97,609,875 (GRCm39) H590N probably damaging Het
Psg18 T C 7: 18,079,874 (GRCm39) I442M probably damaging Het
Pygm C A 19: 6,439,494 (GRCm39) D279E probably benign Het
Rrn3 T A 16: 13,610,798 (GRCm39) probably null Het
Sass6 T C 3: 116,407,702 (GRCm39) S273P possibly damaging Het
Schip1 A G 3: 68,402,270 (GRCm39) M116V probably benign Het
Sdc3 G A 4: 130,546,087 (GRCm39) V55I unknown Het
Serpinb8 T A 1: 107,525,201 (GRCm39) M1K probably null Het
Slc24a5 T C 2: 124,927,739 (GRCm39) I346T probably damaging Het
Slc35f3 T A 8: 127,117,846 (GRCm39) I335N probably damaging Het
Snapc2 T A 8: 4,305,299 (GRCm39) V147E probably damaging Het
Snx2 T C 18: 53,322,784 (GRCm39) S56P possibly damaging Het
Sptbn5 A G 2: 119,915,812 (GRCm39) probably benign Het
Stk19 A T 17: 35,040,400 (GRCm39) probably benign Het
Sulf1 A G 1: 12,911,702 (GRCm39) E692G probably benign Het
Tet1 C T 10: 62,674,450 (GRCm39) V1209I probably damaging Het
Tln1 T C 4: 43,539,406 (GRCm39) T1639A probably benign Het
Tmem135 G T 7: 88,845,335 (GRCm39) Y165* probably null Het
Tmprss6 T C 15: 78,336,707 (GRCm39) T398A probably damaging Het
Ube4a C T 9: 44,851,258 (GRCm39) probably null Het
Vmn1r227 T C 17: 20,955,499 (GRCm39) noncoding transcript Het
Wdhd1 T C 14: 47,488,273 (GRCm39) S745G probably benign Het
Zfp788 A G 7: 41,298,980 (GRCm39) T539A probably benign Het
Zfp866 A T 8: 70,218,091 (GRCm39) F510I possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TGGTTTTCCCTAGGCAAAGCC -3'
(R):5'- GAGCACCACAACGAAACATTCTG -3'

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