Incidental Mutation 'IGL03393:Xylt1'
ID 421153
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xylt1
Ensembl Gene ENSMUSG00000030657
Gene Name xylosyltransferase 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # IGL03393
Quality Score
Status
Chromosome 7
Chromosomal Location 116980214-117266853 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 117192940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 415 (N415K)
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: N415K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032892
Gene: ENSMUSG00000030657
AA Change: N415K

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
Coding Region Coverage
Validation Efficiency
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 86,909,902 (GRCm39) probably benign Het
Adamts5 G T 16: 85,665,083 (GRCm39) S627Y probably damaging Het
Allc G A 12: 28,610,010 (GRCm39) R196C probably damaging Het
Ccdc65 A C 15: 98,618,568 (GRCm39) E241A probably benign Het
Dclk3 T C 9: 111,317,741 (GRCm39) probably benign Het
Fzd4 T C 7: 89,056,505 (GRCm39) V184A probably benign Het
Gfap T A 11: 102,784,083 (GRCm39) probably null Het
Gpr149 A G 3: 62,511,366 (GRCm39) V211A probably benign Het
Gprc6a A G 10: 51,491,355 (GRCm39) I623T probably damaging Het
Gucy2c T C 6: 136,696,665 (GRCm39) T687A probably benign Het
Kcnc4 T G 3: 107,355,243 (GRCm39) M402L possibly damaging Het
Ktn1 T C 14: 47,928,391 (GRCm39) L584S probably damaging Het
Mrgprb2 C T 7: 48,202,650 (GRCm39) S25N probably benign Het
Muc5b T A 7: 141,417,875 (GRCm39) V3607E probably benign Het
Or4c58 C A 2: 89,674,913 (GRCm39) V135L probably benign Het
Or6c3b T C 10: 129,527,147 (GRCm39) I254M probably damaging Het
Otx2 A G 14: 48,898,781 (GRCm39) I75T probably damaging Het
Pabpc4l T C 3: 46,400,972 (GRCm39) D224G probably damaging Het
Peg3 A T 7: 6,710,648 (GRCm39) C1525S probably damaging Het
Polq A T 16: 36,865,156 (GRCm39) L669F probably damaging Het
Prss40 A C 1: 34,597,182 (GRCm39) V122G probably damaging Het
Rims2 A G 15: 39,326,009 (GRCm39) probably null Het
Rrp12 A T 19: 41,860,232 (GRCm39) M997K possibly damaging Het
Sbno2 G A 10: 79,902,735 (GRCm39) R414W probably damaging Het
Scn1a T C 2: 66,148,362 (GRCm39) D41G probably benign Het
Serpinb1c A T 13: 33,066,044 (GRCm39) D300E probably damaging Het
Timeless G A 10: 128,087,924 (GRCm39) D1165N probably damaging Het
Tnpo1 T G 13: 99,024,981 (GRCm39) K66N probably damaging Het
Trappc11 A T 8: 47,963,912 (GRCm39) N629K possibly damaging Het
Ubr4 T A 4: 139,179,989 (GRCm39) L255M probably damaging Het
Vmn1r10 T A 6: 57,091,042 (GRCm39) Y211* probably null Het
Vmn2r76 T G 7: 85,879,034 (GRCm39) N422T probably benign Het
Zfp786 A T 6: 47,798,458 (GRCm39) V160E 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
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
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 2016-08-02