Incidental Mutation 'R5707:Xylt1'
ID 452020
Institutional Source Beutler Lab
Gene Symbol Xylt1
Ensembl Gene ENSMUSG00000030657
Gene Name xylosyltransferase 1
Synonyms
MMRRC Submission 043332-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R5707 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 116980214-117266853 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 117255717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 763 (M763K)
Ref Sequence ENSEMBL: ENSMUSP00000032892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032892]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000032892
AA Change: M763K

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000032892
Gene: ENSMUSG00000030657
AA Change: M763K

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 0.1670 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 97% (56/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,460,620 (GRCm39) L4210P probably damaging Het
Adcy6 T C 15: 98,496,622 (GRCm39) T518A probably damaging Het
Adgb C T 10: 10,267,501 (GRCm39) V940I probably damaging Het
Aqp11 A G 7: 97,386,635 (GRCm39) V187A possibly damaging Het
Arhgef15 A G 11: 68,845,541 (GRCm39) S104P probably damaging Het
Birc6 T A 17: 75,003,399 (GRCm39) N4762K probably damaging Het
Cacna1e T C 1: 154,509,463 (GRCm39) D264G probably damaging Het
Cela3b G T 4: 137,152,167 (GRCm39) Q97K probably damaging Het
Cenpc1 T A 5: 86,183,293 (GRCm39) R499W possibly damaging Het
Chct1 A G 11: 85,064,138 (GRCm39) N93S probably benign Het
Cnr1 C A 4: 33,944,330 (GRCm39) C239* probably null Het
Col6a2 T C 10: 76,446,865 (GRCm39) K348E possibly damaging Het
Ctnnb1 C A 9: 120,784,234 (GRCm39) L368I probably benign Het
Diras1 T C 10: 80,857,915 (GRCm39) E112G probably benign Het
Dop1a T A 9: 86,385,050 (GRCm39) M332K possibly damaging Het
Dpy19l1 T C 9: 24,325,563 (GRCm39) *747W probably null Het
Dydc2 T G 14: 40,783,911 (GRCm39) T71P probably damaging Het
Elapor2 A G 5: 9,491,698 (GRCm39) Y686C probably damaging Het
Ggt1 T A 10: 75,421,072 (GRCm39) I429N probably benign Het
Gm5114 G C 7: 39,060,700 (GRCm39) L50V probably benign Het
Gm5121 T G 9: 57,241,766 (GRCm39) noncoding transcript Het
Kidins220 A G 12: 25,063,390 (GRCm39) D933G probably damaging Het
Kirrel3 A G 9: 34,924,572 (GRCm39) K286R probably damaging Het
Klf5 T C 14: 99,538,944 (GRCm39) I39T probably benign Het
Krt14 C T 11: 100,095,584 (GRCm39) V274I possibly damaging Het
Meiob A G 17: 25,054,025 (GRCm39) D364G probably benign Het
Mroh7 T A 4: 106,539,082 (GRCm39) E1190D possibly damaging Het
Mtmr7 T C 8: 41,011,203 (GRCm39) E285G possibly damaging Het
Nhsl1 C T 10: 18,402,251 (GRCm39) T1159M probably damaging Het
Odad4 G A 11: 100,444,887 (GRCm39) A348T probably damaging Het
Or1af1 C A 2: 37,109,901 (GRCm39) N133K probably benign Het
Or1e23 G T 11: 73,407,451 (GRCm39) D191E probably damaging Het
Or2b2b A G 13: 21,858,769 (GRCm39) L115P probably damaging Het
Pcare G T 17: 72,058,567 (GRCm39) A370E possibly damaging Het
Pdlim5 T A 3: 142,010,060 (GRCm39) H294L probably damaging Het
Pdzd8 A T 19: 59,288,057 (GRCm39) D1114E probably benign Het
Phf20 T G 2: 156,138,691 (GRCm39) probably null Het
Plec C T 15: 76,083,871 (GRCm39) probably benign Het
Ppp1r18 T C 17: 36,178,128 (GRCm39) M1T probably null Het
Ppp4r3a G A 12: 101,024,770 (GRCm39) T243I probably damaging Het
Prss41 C T 17: 24,061,390 (GRCm39) V134I probably benign Het
Pter T C 2: 12,982,991 (GRCm39) probably benign Het
Rasgef1b T G 5: 99,382,461 (GRCm39) K176N possibly damaging Het
Reps1 T A 10: 17,931,758 (GRCm39) D16E probably benign Het
Slc4a5 T A 6: 83,238,397 (GRCm39) D73E probably benign Het
Smgc A T 15: 91,744,861 (GRCm39) T146S possibly damaging Het
Sptbn1 A T 11: 30,093,174 (GRCm39) W396R possibly damaging Het
Stkld1 A G 2: 26,833,999 (GRCm39) E162G probably damaging Het
Tanc1 T C 2: 59,588,874 (GRCm39) F106L probably benign Het
Tarbp1 A G 8: 127,193,883 (GRCm39) Y340H probably damaging Het
Tenm2 T C 11: 35,938,009 (GRCm39) I1556V possibly damaging Het
Tmem64 T C 4: 15,266,288 (GRCm39) C113R probably damaging Het
Try4 T C 6: 41,281,977 (GRCm39) F188L possibly damaging Het
Ucn3 A G 13: 3,991,556 (GRCm39) V32A probably benign Het
Vmn2r83 T A 10: 79,327,183 (GRCm39) M597K possibly damaging Het
Wdr90 A G 17: 26,076,166 (GRCm39) V491A probably benign Het
Zfp507 G T 7: 35,493,588 (GRCm39) A485E 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
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'- TAGGTGACTTGGAGCCTCAG -3'
(R):5'- AATTTGGTCTCTGCCACTGG -3'

Sequencing Primer
(F):5'- GAGCCTCAGCCTCCTCATG -3'
(R):5'- GCACCCAGTGATGGAGAATCTTC -3'
Posted On 2017-01-03