Mutagenetix > Incidental Mutation

Incidental Mutation 'R0393:Rxylt1'

31802

Institutional Source

Beutler Lab

Gene Symbol

Rxylt1

Ensembl Gene

ENSMUSG00000034620

Gene Name

ribitol xylosyltransferase 1

Synonyms

6330415D21Rik, Tmem5

MMRRC Submission

038599-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0393 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121916844-121933271 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 121931841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

noncoding transcript
Transcript: ENSMUST00000135083

Predicted Effect

probably benign
Transcript: ENSMUST00000140299

SMART Domains

Protein: ENSMUSP00000119308
Gene: ENSMUSG00000034620

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	40	59	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141057

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

100% (59/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	C	T	6: 142,591,604 (GRCm39)		probably benign	Het
Akr1b7	T	G	6: 34,392,335 (GRCm39)	Y49*	probably null	Het
Ankrd10	G	T	8: 11,685,482 (GRCm39)	R46S	possibly damaging	Het
Atp13a5	A	G	16: 29,085,681 (GRCm39)		probably benign	Het
Baz1a	A	G	12: 54,965,221 (GRCm39)		probably null	Het
Bicd2	C	T	13: 49,533,346 (GRCm39)	T644M	probably damaging	Het
Ccr9	A	T	9: 123,609,035 (GRCm39)	H239L	probably benign	Het
Cd180	A	T	13: 102,842,408 (GRCm39)	N485Y	probably damaging	Het
Ces1d	T	A	8: 93,919,400 (GRCm39)	S131C	probably damaging	Het
Cnpy2	T	A	10: 128,162,076 (GRCm39)	S116R	probably benign	Het
Crym	T	C	7: 119,788,972 (GRCm39)	K285R	probably benign	Het
Cyp2a4	A	T	7: 26,012,293 (GRCm39)	I359F	possibly damaging	Het
Cyp2b10	T	A	7: 25,614,359 (GRCm39)		probably benign	Het
Dcpp3	A	T	17: 24,136,925 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 30,927,364 (GRCm39)	I1340K	probably benign	Het
Fbln1	T	C	15: 85,111,277 (GRCm39)	C144R	probably damaging	Het
Gm1553	T	C	10: 82,328,010 (GRCm39)	R66G	unknown	Het
Il10rb	G	A	16: 91,208,898 (GRCm39)	V103I	probably benign	Het
Irak1bp1	T	A	9: 82,728,614 (GRCm39)	W182R	probably benign	Het
Kcna3	T	C	3: 106,944,315 (GRCm39)	S193P	probably damaging	Het
Kif14	C	T	1: 136,410,156 (GRCm39)	H628Y	probably damaging	Het
Krt31	A	G	11: 99,941,079 (GRCm39)	L77P	probably damaging	Het
Krt36	C	T	11: 99,994,940 (GRCm39)	A211T	possibly damaging	Het
L3mbtl2	C	T	15: 81,552,942 (GRCm39)	A125V	probably damaging	Het
Lmo7	A	G	14: 102,137,892 (GRCm39)	T743A	probably benign	Het
Lyst	C	T	13: 13,821,664 (GRCm39)	T1346M	probably benign	Het
Mapkbp1	T	A	2: 119,843,384 (GRCm39)		probably null	Het
Mif	T	C	10: 75,695,638 (GRCm39)	D55G	probably benign	Het
Mlh3	G	T	12: 85,314,361 (GRCm39)	C608*	probably null	Het
Mlip	A	T	9: 77,146,859 (GRCm39)	C85S	probably benign	Het
Mug1	T	C	6: 121,826,809 (GRCm39)	S211P	possibly damaging	Het
Mybl2	T	A	2: 162,903,528 (GRCm39)		probably benign	Het
Myh8	C	T	11: 67,196,843 (GRCm39)		probably benign	Het
Nanos1	A	G	19: 60,745,368 (GRCm39)	Y222C	probably damaging	Het
Or10ag52	A	T	2: 87,044,037 (GRCm39)	Y267F	probably benign	Het
Or2n1e	G	T	17: 38,585,774 (GRCm39)	M37I	probably benign	Het
Or5d16	T	C	2: 87,773,909 (GRCm39)	D21G	possibly damaging	Het
Papolb	A	G	5: 142,515,211 (GRCm39)	V144A	probably damaging	Het
Pctp	A	G	11: 89,876,945 (GRCm39)	S185P	probably benign	Het
Plod1	A	T	4: 148,003,298 (GRCm39)	L509Q	probably null	Het
Ppp1r13b	C	A	12: 111,802,122 (GRCm39)	M290I	probably benign	Het
Ralb	G	C	1: 119,405,856 (GRCm39)		probably null	Het
Slc4a8	T	A	15: 100,672,519 (GRCm39)	D18E	probably damaging	Het
Speg	A	C	1: 75,400,568 (GRCm39)	H2576P	possibly damaging	Het
Spock1	T	C	13: 57,588,349 (GRCm39)	D241G	probably damaging	Het
Tcam1	T	A	11: 106,175,040 (GRCm39)	V165E	probably benign	Het
Thbs1	T	A	2: 117,943,472 (GRCm39)	V30E	possibly damaging	Het
Tll2	A	G	19: 41,077,265 (GRCm39)	Y834H	possibly damaging	Het
Trpm6	G	A	19: 18,756,008 (GRCm39)	D84N	probably damaging	Het
Ubr1	T	A	2: 120,737,427 (GRCm39)	Q1039L	probably damaging	Het
Ubr4	A	G	4: 139,138,171 (GRCm39)		probably benign	Het
Vmn1r74	T	C	7: 11,581,242 (GRCm39)	Y181H	possibly damaging	Het
Vmn2r13	T	C	5: 109,304,395 (GRCm39)	T679A	probably benign	Het
Vmn2r91	A	T	17: 18,325,712 (GRCm39)	Y110F	probably damaging	Het
Zbtb40	A	C	4: 136,745,842 (GRCm39)	S64A	probably benign	Het
Zfp184	T	A	13: 22,131,252 (GRCm39)		probably benign	Het

Other mutations in Rxylt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02170:Rxylt1	APN	10	121,930,548 (GRCm39)	missense	probably damaging	0.98
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
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'- ACTGAGAGCCTTCCACAGACATGC -3'
(R):5'- AGTCCGCTTTGGAGAGTGAAGAATG -3'

Sequencing Primer
(F):5'- ttaaacaaagtctacattgaattgcc -3'
(R):5'- CTTTGGAGAGTGAAGAATGGAATCC -3'

Posted On

2013-04-24