Incidental Mutation 'R0313:Xylt2'
ID 25348
Institutional Source Beutler Lab
Gene Symbol Xylt2
Ensembl Gene ENSMUSG00000020868
Gene Name xylosyltransferase II
Synonyms E030002B02Rik
MMRRC Submission 038523-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.872) question?
Stock # R0313 (G1)
Quality Score 212
Status Validated
Chromosome 11
Chromosomal Location 94554677-94568341 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 94560720 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000116349] [ENSMUST00000146693] [ENSMUST00000150377] [ENSMUST00000153485]
AlphaFold Q9EPL0
Predicted Effect probably benign
Transcript: ENSMUST00000116349
SMART Domains Protein: ENSMUSP00000112052
Gene: ENSMUSG00000020868

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 66 85 N/A INTRINSIC
low complexity region 102 120 N/A INTRINSIC
Pfam:Branch 234 489 1.9e-60 PFAM
Pfam:Xylo_C 519 699 1.2e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146693
Predicted Effect probably benign
Transcript: ENSMUST00000150377
SMART Domains Protein: ENSMUSP00000134495
Gene: ENSMUSG00000020868

DomainStartEndE-ValueType
Pfam:Xylo_C 31 97 2.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153485
SMART Domains Protein: ENSMUSP00000122581
Gene: ENSMUSG00000020868

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 66 85 N/A INTRINSIC
low complexity region 102 120 N/A INTRINSIC
Pfam:Branch 234 489 1.1e-59 PFAM
Pfam:Xylo_C 519 594 2.4e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154830
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.9%
  • 20x: 88.5%
Validation Efficiency 98% (40/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a knock-out allele lack most liver proteoglycans and develop many aspects of polycystic liver and kidney disease, including biliary tract hyperplasia, liver fibrosis, biliary cysts, renal tubule dilation, basement membrane abnormalities and hydronephrosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 A G 6: 58,649,082 (GRCm39) E309G probably benign Het
Ankmy1 C T 1: 92,813,943 (GRCm39) G412D probably damaging Het
Cc2d1a G A 8: 84,863,598 (GRCm39) T542I probably benign Het
Cldn18 T C 9: 99,580,967 (GRCm39) I94V probably benign Het
Cobll1 G A 2: 64,926,088 (GRCm39) R1195* probably null Het
Dnah7b A G 1: 46,246,803 (GRCm39) T1660A probably damaging Het
Dzip3 G T 16: 48,757,424 (GRCm39) Q870K probably damaging Het
Ebf4 T C 2: 130,148,707 (GRCm39) probably benign Het
Ecpas A G 4: 58,811,892 (GRCm39) I1411T probably benign Het
Esyt2 T C 12: 116,311,428 (GRCm39) L439P probably damaging Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Haspin A G 11: 73,027,124 (GRCm39) V655A probably damaging Het
Kmt2c T C 5: 25,549,928 (GRCm39) E1351G probably damaging Het
Lama2 C A 10: 26,869,394 (GRCm39) probably null Het
Lcp1 A G 14: 75,436,873 (GRCm39) E73G probably damaging Het
Ltv1 C T 10: 13,058,604 (GRCm39) probably null Het
Mcmdc2 A G 1: 10,002,366 (GRCm39) Y529C probably damaging Het
Myo3b T A 2: 70,179,303 (GRCm39) Y1172* probably null Het
Ncf1 T C 5: 134,258,421 (GRCm39) M1V probably null Het
Or4k47 C T 2: 111,451,945 (GRCm39) S158N possibly damaging Het
Or6c8b A G 10: 128,882,695 (GRCm39) V79A possibly damaging Het
Or8c10 T C 9: 38,279,600 (GRCm39) S243P probably damaging Het
Pcif1 A T 2: 164,726,339 (GRCm39) H80L probably damaging Het
Pclo T C 5: 14,728,887 (GRCm39) probably benign Het
Polr2a T C 11: 69,625,906 (GRCm39) Y1710C unknown Het
Ppp1r37 G A 7: 19,267,923 (GRCm39) T324I probably damaging Het
Prmt1 T C 7: 44,628,172 (GRCm39) D176G probably benign Het
Scn5a T C 9: 119,363,637 (GRCm39) D501G probably damaging Het
Ska2 A G 11: 87,008,640 (GRCm39) I89M possibly damaging Het
Slc39a7 G A 17: 34,248,518 (GRCm39) A375V probably damaging Het
Ssrp1 T A 2: 84,871,898 (GRCm39) I374N probably damaging Het
Stox2 C T 8: 47,645,169 (GRCm39) G828R probably damaging Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Uqcrc1 C A 9: 108,777,642 (GRCm39) R114S possibly damaging Het
Usp38 A T 8: 81,711,071 (GRCm39) L988* probably null Het
Vmn2r5 T A 3: 64,411,248 (GRCm39) H440L probably benign Het
Wdr12 A T 1: 60,121,738 (GRCm39) I271N possibly damaging Het
Other mutations in Xylt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02048:Xylt2 APN 11 94,557,171 (GRCm39) missense possibly damaging 0.61
IGL02421:Xylt2 APN 11 94,558,588 (GRCm39) missense possibly damaging 0.45
P0040:Xylt2 UTSW 11 94,559,617 (GRCm39) missense possibly damaging 0.46
PIT4585001:Xylt2 UTSW 11 94,557,066 (GRCm39) missense probably damaging 1.00
R0016:Xylt2 UTSW 11 94,560,466 (GRCm39) missense probably damaging 1.00
R0016:Xylt2 UTSW 11 94,560,466 (GRCm39) missense probably damaging 1.00
R0449:Xylt2 UTSW 11 94,557,159 (GRCm39) missense probably benign 0.22
R0511:Xylt2 UTSW 11 94,560,762 (GRCm39) nonsense probably null
R1483:Xylt2 UTSW 11 94,560,393 (GRCm39) missense probably benign 0.04
R1511:Xylt2 UTSW 11 94,561,259 (GRCm39) missense probably damaging 1.00
R1565:Xylt2 UTSW 11 94,558,420 (GRCm39) missense probably benign
R1616:Xylt2 UTSW 11 94,559,035 (GRCm39) missense probably damaging 1.00
R1702:Xylt2 UTSW 11 94,559,571 (GRCm39) missense probably damaging 0.98
R1712:Xylt2 UTSW 11 94,559,575 (GRCm39) missense possibly damaging 0.88
R2233:Xylt2 UTSW 11 94,560,822 (GRCm39) missense possibly damaging 0.71
R2234:Xylt2 UTSW 11 94,560,822 (GRCm39) missense possibly damaging 0.71
R4534:Xylt2 UTSW 11 94,557,176 (GRCm39) missense probably benign 0.02
R4702:Xylt2 UTSW 11 94,560,355 (GRCm39) missense possibly damaging 0.83
R4768:Xylt2 UTSW 11 94,561,298 (GRCm39) missense probably benign 0.06
R5032:Xylt2 UTSW 11 94,560,842 (GRCm39) missense probably damaging 0.99
R5237:Xylt2 UTSW 11 94,557,953 (GRCm39) missense probably benign
R5281:Xylt2 UTSW 11 94,559,616 (GRCm39) missense probably benign 0.30
R5949:Xylt2 UTSW 11 94,559,309 (GRCm39) missense probably damaging 1.00
R6950:Xylt2 UTSW 11 94,558,455 (GRCm39) missense probably benign
R7041:Xylt2 UTSW 11 94,558,408 (GRCm39) critical splice donor site probably null
R8987:Xylt2 UTSW 11 94,561,278 (GRCm39) missense probably damaging 1.00
R9029:Xylt2 UTSW 11 94,555,462 (GRCm39) missense probably damaging 1.00
R9088:Xylt2 UTSW 11 94,561,229 (GRCm39) missense probably benign 0.32
R9285:Xylt2 UTSW 11 94,558,536 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- AAGGTGTCACCCGCACATTCTC -3'
(R):5'- GCAAGCAGGCAGCCTTTTCTTC -3'

Sequencing Primer
(F):5'- AGCTGGGCACCACAGTTATTG -3'
(R):5'- TTTCCACGCAGGCAAGATG -3'
Posted On 2013-04-16