Incidental Mutation 'R7630:Rxylt1'
ID 589603
Institutional Source Beutler Lab
Gene Symbol Rxylt1
Ensembl Gene ENSMUSG00000034620
Gene Name ribitol xylosyltransferase 1
Synonyms 6330415D21Rik, Tmem5
MMRRC Submission 045691-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7630 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 121916844-121933271 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121931865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 103 (I103V)
Ref Sequence ENSEMBL: ENSMUSP00000119308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038772] [ENSMUST00000140299]
AlphaFold Q8VDX6
Predicted Effect probably benign
Transcript: ENSMUST00000038772
Predicted Effect possibly damaging
Transcript: ENSMUST00000140299
AA Change: I103V

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119308
Gene: ENSMUSG00000034620
AA Change: I103V

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 40 59 N/A INTRINSIC
Meta Mutation Damage Score 0.1525 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 93% (40/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type II transmembrane protein that is thought to have glycosyltransferase function. Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530084C06Rik G T 13: 31,742,978 (GRCm39) R92S unknown Het
Agbl1 A T 7: 76,535,904 (GRCm39) I1019F unknown Het
Arhgap15 A G 2: 43,670,648 (GRCm39) T11A probably benign Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Atg2b T C 12: 105,613,213 (GRCm39) probably null Het
Aup1 C A 6: 83,031,904 (GRCm39) D50E unknown Het
Ccl25 A G 8: 4,403,955 (GRCm39) Y49C probably damaging Het
Cnga3 A G 1: 37,297,127 (GRCm39) D148G probably damaging Het
Cpeb3 A T 19: 37,031,693 (GRCm39) F570I probably damaging Het
Cyp3a16 T A 5: 145,373,120 (GRCm39) probably null Het
Eif2d C T 1: 131,082,103 (GRCm39) T65M probably benign Het
Fryl T C 5: 73,267,588 (GRCm39) I426V possibly damaging Het
Hgf T C 5: 16,803,248 (GRCm39) S387P probably benign Het
Hyal6 T C 6: 24,734,583 (GRCm39) V172A probably damaging Het
Il10ra T C 9: 45,167,369 (GRCm39) D396G probably damaging Het
Kif26a A G 12: 112,142,131 (GRCm39) D795G probably damaging Het
Lrrc8c T A 5: 105,755,568 (GRCm39) S448T probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Notch2 A G 3: 98,044,824 (GRCm39) D1582G possibly damaging Het
Or14c42-ps1 T C 7: 86,211,680 (GRCm39) S247P probably damaging Het
Or1l4b A C 2: 37,036,371 (GRCm39) D49A probably damaging Het
Osmr T C 15: 6,846,452 (GRCm39) I741V possibly damaging Het
Plec C T 15: 76,074,816 (GRCm39) probably null Het
Prkag3 A G 1: 74,783,894 (GRCm39) F330L probably damaging Het
Prkn A G 17: 11,456,455 (GRCm39) E93G probably benign Het
Rexo4 A T 2: 26,850,622 (GRCm39) F247I probably damaging Het
Rph3a T C 5: 121,081,113 (GRCm39) D628G probably damaging Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Scnn1g T C 7: 121,359,704 (GRCm39) S396P probably damaging Het
Slc1a5 G A 7: 16,529,732 (GRCm39) V384M probably damaging Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Smc4 CTA CTATA 3: 68,925,400 (GRCm39) probably benign Het
Synpo2 A G 3: 122,873,681 (GRCm39) V1154A probably damaging Het
Tanc2 T C 11: 105,667,734 (GRCm39) V105A probably benign Het
Tapbp T C 17: 34,139,318 (GRCm39) S105P probably benign Het
Tmem79 T C 3: 88,240,768 (GRCm39) E60G possibly damaging Het
Txnrd2 A G 16: 18,257,140 (GRCm39) D152G possibly damaging Het
Vcl T A 14: 21,033,470 (GRCm39) L142* probably null Het
Vmn2r58 T C 7: 41,513,611 (GRCm39) Y344C probably damaging Het
Vmn2r-ps117 A G 17: 19,044,909 (GRCm39) D442G probably benign Het
Xpo6 A T 7: 125,739,561 (GRCm39) probably null Het
Other mutations in Rxylt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02170:Rxylt1 APN 10 121,930,548 (GRCm39) missense probably damaging 0.98
R0393:Rxylt1 UTSW 10 121,931,841 (GRCm39) splice site probably benign
R1130:Rxylt1 UTSW 10 121,931,847 (GRCm39) missense possibly damaging 0.46
R1521:Rxylt1 UTSW 10 121,926,384 (GRCm39) missense probably damaging 0.99
R1757:Rxylt1 UTSW 10 121,924,920 (GRCm39) missense probably benign
R3806:Rxylt1 UTSW 10 121,917,514 (GRCm39) missense possibly damaging 0.93
R6633:Rxylt1 UTSW 10 121,932,958 (GRCm39) missense probably damaging 0.98
R7237:Rxylt1 UTSW 10 121,917,523 (GRCm39) nonsense probably null
R7261:Rxylt1 UTSW 10 121,924,822 (GRCm39) missense probably benign 0.07
R7522:Rxylt1 UTSW 10 121,917,344 (GRCm39) missense probably damaging 0.99
R8866:Rxylt1 UTSW 10 121,924,953 (GRCm39) missense probably damaging 0.99
R9801:Rxylt1 UTSW 10 121,926,608 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGGCCCTTTGTAACTGTGAG -3'
(R):5'- ACTGGTAAACGCAGTCACTC -3'

Sequencing Primer
(F):5'- CACAGTCTGTTTAGTGAGGACGACTC -3'
(R):5'- TCTCTTTAAAACAGAGCAGTCCG -3'
Posted On 2019-10-24