Incidental Mutation 'R2937:Xylt1'
ID 255069
Institutional Source Beutler Lab
Gene Symbol Xylt1
Ensembl Gene ENSMUSG00000030657
Gene Name xylosyltransferase 1
Synonyms
MMRRC Submission 040514-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R2937 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 116980214-117266853 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 117234011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 513 (Q513K)
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: Q513K

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000032892
Gene: ENSMUSG00000030657
AA Change: Q513K

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 0.1553 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (73/73)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm1 A G 7: 119,258,350 (GRCm39) E481G probably damaging Het
Anks1b C T 10: 89,912,928 (GRCm39) T351M probably damaging Het
Arhgap45 T A 10: 79,864,836 (GRCm39) M933K probably damaging Het
Asph A C 4: 9,542,314 (GRCm39) probably benign Het
Bace2 T C 16: 97,213,388 (GRCm39) probably null Het
Cacna1b A G 2: 24,496,540 (GRCm39) V125A probably benign Het
Cbarp T C 10: 79,967,603 (GRCm39) D539G probably damaging Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cdr1 T G X: 60,228,968 (GRCm39) D66A unknown Het
Cela3b A G 4: 137,150,574 (GRCm39) I208T probably benign Het
Cfap91 A T 16: 38,131,400 (GRCm39) I471N possibly damaging Het
Clca3a2 T A 3: 144,519,679 (GRCm39) T232S probably benign Het
Col1a2 G A 6: 4,519,882 (GRCm39) probably benign Het
Col1a2 A T 6: 4,520,788 (GRCm39) Q375L possibly damaging Het
Cpd T C 11: 76,702,685 (GRCm39) N561S probably damaging Het
Csn1s1 A T 5: 87,824,995 (GRCm39) Q221L possibly damaging Het
Depdc5 G A 5: 33,058,965 (GRCm39) probably null Het
Dnah10 T C 5: 124,896,476 (GRCm39) probably null Het
Dsg2 T C 18: 20,712,185 (GRCm39) F107S probably damaging Het
Dthd1 A G 5: 63,000,300 (GRCm39) I541V probably benign Het
Eml6 G A 11: 29,783,049 (GRCm39) probably benign Het
Fermt2 A C 14: 45,741,948 (GRCm39) probably null Het
Gimap8 A T 6: 48,635,730 (GRCm39) R498S possibly damaging Het
Glis1 A G 4: 107,489,488 (GRCm39) N692D possibly damaging Het
Grtp1 G A 8: 13,239,755 (GRCm39) probably benign Het
Hecw1 G T 13: 14,420,421 (GRCm39) Q1001K possibly damaging Het
Hydin T C 8: 111,130,927 (GRCm39) V606A possibly damaging Het
Krt33b T A 11: 99,914,835 (GRCm39) N388I probably benign Het
Lipf T C 19: 33,950,438 (GRCm39) Y277H probably damaging Het
Lmod1 A G 1: 135,291,654 (GRCm39) K170E probably benign Het
Lrrtm1 A T 6: 77,220,635 (GRCm39) M31L probably benign Het
Man1c1 A G 4: 134,430,263 (GRCm39) I173T possibly damaging Het
Med17 T C 9: 15,187,187 (GRCm39) K196E probably damaging Het
Mmp25 T A 17: 23,863,765 (GRCm39) I22F probably benign Het
Nrg3 T A 14: 38,092,965 (GRCm39) N540I possibly damaging Het
Nsun5 C T 5: 135,404,317 (GRCm39) Q375* probably null Het
Or52ad1 T C 7: 102,995,272 (GRCm39) M288V probably benign Het
Or52r1c T A 7: 102,735,548 (GRCm39) H269Q probably benign Het
Pcdh1 G T 18: 38,322,815 (GRCm39) A1006E probably benign Het
Pdss1 T A 2: 22,796,799 (GRCm39) probably null Het
Plaa G A 4: 94,457,696 (GRCm39) A758V probably damaging Het
Prl6a1 T A 13: 27,499,303 (GRCm39) W24R probably damaging Het
Ptk7 T C 17: 46,883,476 (GRCm39) H863R probably damaging Het
Rbm10 T C X: 20,513,934 (GRCm39) L429P possibly damaging Het
Rhou T C 8: 124,387,880 (GRCm39) I204T possibly damaging Het
Serpind1 G T 16: 17,154,972 (GRCm39) M266I probably benign Het
Sgcg A T 14: 61,467,074 (GRCm39) F175L probably damaging Het
Slc2a2 T G 3: 28,772,920 (GRCm39) C238G probably damaging Het
Slc39a8 A G 3: 135,592,584 (GRCm39) M420V probably benign Het
Slc7a9 C A 7: 35,163,167 (GRCm39) Y457* probably null Het
Smpd3 C T 8: 106,991,452 (GRCm39) R367H probably damaging Het
Sntb2 T C 8: 107,662,729 (GRCm39) V99A probably benign Het
Specc1l T G 10: 75,094,965 (GRCm39) I796R probably damaging Het
Stfa2l1 G T 16: 35,980,316 (GRCm39) V29F probably damaging Het
Synrg T C 11: 83,885,180 (GRCm39) F455S probably damaging Het
Tap2 T C 17: 34,431,328 (GRCm39) V422A possibly damaging Het
Tcf7 A T 11: 52,173,610 (GRCm39) probably null Het
Tcp10a A G 17: 7,597,173 (GRCm39) Y110C probably damaging Het
Thoc1 T A 18: 9,959,255 (GRCm39) S43R probably damaging Het
Tlr1 A G 5: 65,083,251 (GRCm39) V442A probably damaging Het
Tmub1 A G 5: 24,650,922 (GRCm39) *261Q probably null Het
Trpc3 G A 3: 36,688,532 (GRCm39) R836* probably null Het
Tsbp1 A T 17: 34,640,836 (GRCm39) H57L possibly damaging Het
Ube2u T C 4: 100,381,495 (GRCm39) S185P possibly damaging Het
Vamp5 A G 6: 72,346,323 (GRCm39) V91A probably benign Het
Vcp A G 4: 42,980,846 (GRCm39) Y755H probably damaging Het
Vmn1r35 A T 6: 66,655,950 (GRCm39) M73K possibly damaging Het
Vmn2r12 C T 5: 109,239,397 (GRCm39) E389K probably damaging Het
Wdfy3 A T 5: 102,091,988 (GRCm39) F450L probably benign Het
Xpo4 G T 14: 57,841,897 (GRCm39) Q473K probably benign Het
Xpo7 A G 14: 70,909,130 (GRCm39) I797T probably damaging Het
Zfp229 T C 17: 21,964,484 (GRCm39) F238S 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
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
Predicted Primers PCR Primer
(F):5'- AAGACATCTCTTACCCAGGTCC -3'
(R):5'- TCAAGGTCTGCAGGGATGAC -3'

Sequencing Primer
(F):5'- AGGTCCTCAAGGCCAATTTG -3'
(R):5'- ACAGCACTGTCTGGAGGTTCAG -3'
Posted On 2014-12-29