Incidental Mutation 'R6633:Rxylt1'
ID 525313
Institutional Source Beutler Lab
Gene Symbol Rxylt1
Ensembl Gene ENSMUSG00000034620
Gene Name ribitol xylosyltransferase 1
Synonyms 6330415D21Rik, Tmem5
MMRRC Submission 044755-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6633 (G1)
Quality Score 117.008
Status Validated
Chromosome 10
Chromosomal Location 121916844-121933271 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 121932958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 7 (R7W)
Ref Sequence ENSEMBL: ENSMUSP00000119308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038772] [ENSMUST00000140299]
AlphaFold Q8VDX6
Predicted Effect unknown
Transcript: ENSMUST00000038772
AA Change: R7W
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135083
Predicted Effect probably damaging
Transcript: ENSMUST00000140299
AA Change: R7W

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119308
Gene: ENSMUSG00000034620
AA Change: R7W

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 40 59 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141057
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 100% (50/50)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf C A 11: 84,402,308 (GRCm39) probably null Het
Acot7 C T 4: 152,262,716 (GRCm39) P30L probably benign Het
Adam24 T G 8: 41,133,526 (GRCm39) D331E probably benign Het
Adamdec1 T C 14: 68,810,601 (GRCm39) D185G probably benign Het
Adgrg7 T C 16: 56,550,649 (GRCm39) I688V probably benign Het
Adgrv1 A T 13: 81,716,762 (GRCm39) F779I probably damaging Het
Agtr1a A G 13: 30,565,450 (GRCm39) I172V probably benign Het
Anapc4 C T 5: 53,023,288 (GRCm39) H710Y possibly damaging Het
Arf1 T C 11: 59,103,370 (GRCm39) N179S probably benign Het
Arhgef40 C T 14: 52,234,888 (GRCm39) P1064S probably damaging Het
Btnl1 A G 17: 34,604,305 (GRCm39) N362S possibly damaging Het
Ccdc80 T C 16: 44,915,271 (GRCm39) F9S possibly damaging Het
Ccdc96 G A 5: 36,642,533 (GRCm39) E180K probably benign Het
Cdh2 A T 18: 16,773,605 (GRCm39) N241K probably benign Het
Cdk8 C A 5: 146,235,656 (GRCm39) S261* probably null Het
Csf2rb2 T C 15: 78,173,152 (GRCm39) E236G probably benign Het
Dgcr8 A T 16: 18,102,046 (GRCm39) S79T possibly damaging Het
Dnah5 A T 15: 28,293,933 (GRCm39) Y1346F probably benign Het
Dock6 A G 9: 21,731,627 (GRCm39) V1194A probably benign Het
Dock6 A G 9: 21,732,799 (GRCm39) S1129P probably damaging Het
Ephb2 C G 4: 136,411,307 (GRCm39) S451T probably benign Het
Esco1 T A 18: 10,595,738 (GRCm39) probably benign Het
Fcer1a C G 1: 173,054,293 (GRCm39) probably null Het
Gbx2 TCCCCC TCCCCCC 1: 89,856,442 (GRCm39) probably null Het
Gm44511 T A 6: 128,803,205 (GRCm39) D2V probably damaging Het
H2-Q2 A G 17: 35,561,363 (GRCm39) T19A probably damaging Het
Herc1 G T 9: 66,346,534 (GRCm39) E1967* probably null Het
Hic1 G T 11: 75,060,324 (GRCm39) H8N unknown Het
Irx4 G T 13: 73,416,545 (GRCm39) A314S probably benign Het
Jarid2 C A 13: 45,038,353 (GRCm39) H84N probably damaging Het
Klk1b27 A T 7: 43,705,234 (GRCm39) I134F probably damaging Het
Kprp T C 3: 92,732,600 (GRCm39) Y150C probably damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lrp10 T C 14: 54,706,531 (GRCm39) V489A probably benign Het
Mrgpra6 A G 7: 46,838,493 (GRCm39) I235T possibly damaging Het
Naip1 A G 13: 100,559,584 (GRCm39) M1140T probably benign Het
Naip1 C T 13: 100,559,593 (GRCm39) R1137Q probably benign Het
Or4c12 T C 2: 89,773,710 (GRCm39) I250V probably benign Het
Plcl2 A G 17: 50,947,168 (GRCm39) I1016V probably benign Het
Plekhb1 A G 7: 100,294,846 (GRCm39) Y122H probably damaging Het
Polr2a A G 11: 69,626,339 (GRCm39) S1604P possibly damaging Het
Ppp6r2 G A 15: 89,137,458 (GRCm39) probably null Het
Rag1 T A 2: 101,473,055 (GRCm39) R696W probably damaging Het
Rusc2 T C 4: 43,414,852 (GRCm39) F53L probably damaging Het
Tango6 T C 8: 107,444,637 (GRCm39) V514A probably benign Het
Tex30 A C 1: 44,127,084 (GRCm39) H64Q probably benign Het
Tmbim7 A G 5: 3,707,659 (GRCm39) probably null Het
Tpcn1 A G 5: 120,682,529 (GRCm39) M493T probably benign Het
Tpx2 T G 2: 152,709,274 (GRCm39) F35V probably damaging Het
Vmn1r3 G A 4: 3,184,971 (GRCm39) T112I probably benign Het
Wnt2b T C 3: 104,858,372 (GRCm39) Y299C probably damaging 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
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
R7630:Rxylt1 UTSW 10 121,931,865 (GRCm39) missense possibly damaging 0.46
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'- GTTTTAAAGGCCTGCGTGC -3'
(R):5'- CGGGCTGTTTTAAGGACAGG -3'

Sequencing Primer
(F):5'- TGAGGACCCCGAGAGAGC -3'
(R):5'- TTTTAAGGACAGGCGGGGC -3'
Posted On 2018-06-22