Incidental Mutation 'IGL02944:Xylt1'
ID364646
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xylt1
Ensembl Gene ENSMUSG00000030657
Gene Namexylosyltransferase 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.253) question?
Stock #IGL02944
Quality Score
Status
Chromosome7
Chromosomal Location117380979-117673580 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 117634757 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 504 (T504S)
Ref Sequence ENSEMBL: ENSMUSP00000032892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032892]
Predicted Effect probably benign
Transcript: ENSMUST00000032892
AA Change: T504S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032892
Gene: ENSMUSG00000030657
AA Change: T504S

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,608,657 Q343R probably benign Het
Antxr1 T A 6: 87,188,159 N432I possibly damaging Het
Arhgap15 T C 2: 44,142,350 probably null Het
Atp6v1h T A 1: 5,093,355 probably benign Het
Cav2 T C 6: 17,281,457 Y33H probably damaging Het
Ccdc175 T A 12: 72,117,893 D585V probably benign Het
Coro7 T C 16: 4,635,412 D271G probably benign Het
Cylc1 T A X: 111,123,604 D551E possibly damaging Het
Dnah1 A T 14: 31,300,871 I1103N possibly damaging Het
Gm44 A G X: 90,892,262 K41E probably benign Het
Gmds T A 13: 32,338,452 Y11F probably benign Het
Igkv13-54-1 C T 6: 69,617,390 noncoding transcript Het
Irf8 A G 8: 120,755,125 T318A probably benign Het
Lrrc40 G A 3: 158,041,665 probably benign Het
Mbd1 G A 18: 74,277,410 G428E probably damaging Het
Myom2 A T 8: 15,104,065 probably null Het
Nav2 C T 7: 49,420,256 R287W probably damaging Het
Nfs1 C T 2: 156,127,768 D320N probably damaging Het
Nlrp9a A T 7: 26,558,651 T565S probably benign Het
Nod1 A T 6: 54,924,947 I951N possibly damaging Het
Olfr353 T G 2: 36,890,788 E20A possibly damaging Het
Olfr675 A G 7: 105,024,923 L19P probably damaging Het
Olfr694 A G 7: 106,689,269 L154P probably damaging Het
Olfr924 A T 9: 38,848,752 I213F possibly damaging Het
Pkhd1l1 T C 15: 44,501,531 Y689H probably damaging Het
Ppp2r5c A G 12: 110,567,800 I366V probably benign Het
Ppp3cb T C 14: 20,528,235 Y149C probably damaging Het
Prdm1 T C 10: 44,441,811 S354G probably benign Het
Ralgapa1 T A 12: 55,757,951 Q520L probably benign Het
Slc25a54 A T 3: 109,080,615 Y24F probably benign Het
Slfn3 T A 11: 83,213,011 V236E probably damaging Het
Syt6 A G 3: 103,575,549 probably benign Het
Trim30a G T 7: 104,435,777 N75K probably benign Het
Vmn1r175 T C 7: 23,809,166 E12G probably damaging Het
Other mutations in Xylt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Xylt1 APN 7 117650685 missense probably damaging 0.99
IGL01306:Xylt1 APN 7 117548890 missense probably benign 0.00
IGL01656:Xylt1 APN 7 117548993 missense probably damaging 1.00
IGL02152:Xylt1 APN 7 117634770 missense probably damaging 1.00
IGL02188:Xylt1 APN 7 117634737 missense probably damaging 1.00
IGL02732:Xylt1 APN 7 117591937 missense possibly damaging 0.75
IGL03308:Xylt1 APN 7 117637751 nonsense probably null
IGL03393:Xylt1 APN 7 117593713 missense probably damaging 1.00
ANU23:Xylt1 UTSW 7 117548890 missense probably benign 0.00
R0023:Xylt1 UTSW 7 117634701 missense probably damaging 1.00
R0023:Xylt1 UTSW 7 117634701 missense probably damaging 1.00
R0970:Xylt1 UTSW 7 117634736 missense probably damaging 0.96
R1433:Xylt1 UTSW 7 117591952 missense possibly damaging 0.51
R1762:Xylt1 UTSW 7 117637761 missense probably benign 0.00
R2169:Xylt1 UTSW 7 117667437 missense probably damaging 1.00
R2937:Xylt1 UTSW 7 117634784 missense probably benign 0.04
R3024:Xylt1 UTSW 7 117548648 missense probably damaging 1.00
R3855:Xylt1 UTSW 7 117593550 missense probably damaging 1.00
R4006:Xylt1 UTSW 7 117475513 missense probably benign 0.01
R4329:Xylt1 UTSW 7 117656461 missense probably damaging 1.00
R4794:Xylt1 UTSW 7 117637635 missense probably benign 0.07
R4975:Xylt1 UTSW 7 117667342 missense probably damaging 1.00
R5225:Xylt1 UTSW 7 117592036 missense probably damaging 1.00
R5679:Xylt1 UTSW 7 117643650 missense probably damaging 1.00
R5707:Xylt1 UTSW 7 117656494 missense possibly damaging 0.95
R5756:Xylt1 UTSW 7 117650700 missense probably damaging 0.97
R5802:Xylt1 UTSW 7 117656691 missense probably benign 0.43
R6057:Xylt1 UTSW 7 117591908 missense probably benign 0.02
R6249:Xylt1 UTSW 7 117667305 missense probably benign 0.11
R6298:Xylt1 UTSW 7 117656737 missense probably damaging 0.96
Posted On2015-12-18