Incidental Mutation 'R5802:Xylt1'
ID 448785
Institutional Source Beutler Lab
Gene Symbol Xylt1
Ensembl Gene ENSMUSG00000030657
Gene Name xylosyltransferase 1
Synonyms
MMRRC Submission 043391-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R5802 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 116980214-117266853 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 117255914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 829 (T829S)
Ref Sequence ENSEMBL: ENSMUSP00000032892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032892]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000032892
AA Change: T829S

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000032892
Gene: ENSMUSG00000030657
AA Change: T829S

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
Meta Mutation Damage Score 0.1604 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (63/65)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 12,021,188 (GRCm39) D383V probably damaging Het
AAdacl4fm3 T A 4: 144,430,206 (GRCm39) D261V probably damaging Het
Abca4 A T 3: 121,847,881 (GRCm39) L67F probably damaging Het
Abcc9 C A 6: 142,602,402 (GRCm39) probably null Het
Atp2a3 T C 11: 72,863,708 (GRCm39) V175A probably damaging Het
B3galt4 T A 17: 34,169,731 (GRCm39) D169V probably damaging Het
Bsn C T 9: 107,990,208 (GRCm39) R1848Q possibly damaging Het
Camkk2 T C 5: 122,872,307 (GRCm39) E90G probably damaging Het
Cdon T A 9: 35,365,716 (GRCm39) I155N probably damaging Het
Cep70 A G 9: 99,178,458 (GRCm39) N519D probably damaging Het
Clgn T C 8: 84,152,243 (GRCm39) S582P probably damaging Het
Cnga3 T C 1: 37,300,006 (GRCm39) F280S probably damaging Het
Dennd4c C T 4: 86,729,690 (GRCm39) T764M probably benign Het
Dis3 A T 14: 99,337,100 (GRCm39) S4T probably damaging Het
Dlgap1 T C 17: 71,073,086 (GRCm39) probably null Het
Dnah17 C T 11: 117,927,272 (GRCm39) V3839I possibly damaging Het
Dnajc1 A G 2: 18,289,550 (GRCm39) Y286H probably benign Het
Dynap T A 18: 70,374,073 (GRCm39) D151V unknown Het
Ednrb A G 14: 104,059,150 (GRCm39) F292S probably damaging Het
Eef1a1 A G 9: 78,386,318 (GRCm39) S396P probably damaging Het
Fancg A G 4: 43,006,582 (GRCm39) F324S probably benign Het
Fbxw11 T A 11: 32,661,790 (GRCm39) S56T probably benign Het
Gm17535 G C 9: 3,035,758 (GRCm39) V209L probably benign Homo
Gm5592 C T 7: 40,868,529 (GRCm39) probably benign Het
Gpr137 C T 19: 6,919,373 (GRCm39) W51* probably null Het
H2-T9 A G 17: 36,422,179 (GRCm39) probably benign Het
Hbb-bs T C 7: 103,475,879 (GRCm39) Y146C probably damaging Het
Herc1 G T 9: 66,370,160 (GRCm39) C2982F probably damaging Het
Hnrnpa3 T A 2: 75,495,400 (GRCm39) N309K unknown Het
Hydin A T 8: 111,178,692 (GRCm39) I1096F possibly damaging Het
Klf12 A G 14: 100,260,330 (GRCm39) V133A probably benign Het
Lats2 A T 14: 57,931,875 (GRCm39) Y848N probably damaging Het
Loxl3 A G 6: 83,026,270 (GRCm39) T453A possibly damaging Het
Ltn1 T G 16: 87,212,569 (GRCm39) H664P probably benign Het
Lypd6 C T 2: 50,063,613 (GRCm39) T40I probably benign Het
Nbeal1 A T 1: 60,311,380 (GRCm39) T1817S probably benign Het
Nub1 A C 5: 24,907,439 (GRCm39) Y350S possibly damaging Het
Pbp2 A G 6: 135,286,874 (GRCm39) Y158H possibly damaging Het
Ptpru C T 4: 131,515,688 (GRCm39) E827K possibly damaging Het
Rap1a A G 3: 105,653,252 (GRCm39) Y32H probably damaging Het
Raph1 T C 1: 60,527,832 (GRCm39) N1143S possibly damaging Het
Rbl1 T C 2: 157,003,353 (GRCm39) T859A probably benign Het
Rom1 A G 19: 8,906,188 (GRCm39) L117P probably damaging Het
Senp6 T C 9: 80,025,926 (GRCm39) probably benign Het
Sirpb1c T C 3: 15,886,240 (GRCm39) M379V probably benign Het
Slc6a4 C T 11: 76,910,062 (GRCm39) T439M probably damaging Het
Srsf12 G T 4: 33,230,929 (GRCm39) R141L probably damaging Het
Stk10 C T 11: 32,546,748 (GRCm39) P335L probably benign Het
Tcstv2c G A 13: 120,616,449 (GRCm39) S96N possibly damaging Het
Tecpr1 A T 5: 144,143,364 (GRCm39) N670K probably benign Het
Tgds T C 14: 118,370,119 (GRCm39) E8G probably benign Het
Tmem129 A G 5: 33,815,060 (GRCm39) S38P probably damaging Het
Trappc9 T C 15: 72,557,188 (GRCm39) E812G probably damaging Het
Trmt10b T A 4: 45,314,236 (GRCm39) probably benign Het
Wapl A G 14: 34,414,277 (GRCm39) T380A probably damaging Het
Zc3h6 C T 2: 128,857,479 (GRCm39) P666L possibly damaging Het
Zfp1010 T C 2: 176,957,049 (GRCm39) T150A possibly damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably 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
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
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'- AGGCTGTTCCGGAACTTTGG -3'
(R):5'- ATTGGGGAAGCTTTGCTCTC -3'

Sequencing Primer
(F):5'- AAGGGGCCCAATGTGACC -3'
(R):5'- AGAGCACTCACCTGGTTT -3'
Posted On 2016-12-15