Mutagenetix > Incidental Mutation

Incidental Mutation 'R3024:Xylt1'

265775

Institutional Source

Beutler Lab

Gene Symbol

Xylt1

Ensembl Gene

ENSMUSG00000030657

Gene Name

xylosyltransferase 1

Synonyms

MMRRC Submission

040540-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R3024 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116980214-117266853 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117147883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 149 (V149D)

Ref Sequence

ENSEMBL: ENSMUSP00000032892 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032892]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032892
AA Change: V149D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032892
Gene: ENSMUSG00000030657
AA Change: V149D

Domain	Start	End	E-Value	Type
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160035

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161889

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef37	T	C	18: 61,634,959 (GRCm39)	E461G	probably damaging	Het
Bfsp1	A	T	2: 143,687,879 (GRCm39)	V182D	probably benign	Het
Birc6	T	C	17: 74,915,214 (GRCm39)	S1635P	possibly damaging	Het
Chil6	T	C	3: 106,296,086 (GRCm39)	D383G	probably damaging	Het
Itpr2	G	A	6: 146,081,808 (GRCm39)	A175V	probably benign	Het
Kcnh7	G	T	2: 62,595,007 (GRCm39)	R688S	probably damaging	Het
Krt6a	A	T	15: 101,599,724 (GRCm39)	C463S	probably benign	Het
Ksr2	T	A	5: 117,693,125 (GRCm39)	I191N	possibly damaging	Het
Lyst	T	C	13: 13,833,272 (GRCm39)	V1698A	probably benign	Het
Or12d13	A	T	17: 37,647,918 (GRCm39)	D68E	probably damaging	Het
Or4c127	A	T	2: 89,833,584 (GRCm39)	N278I	probably damaging	Het
Pappa2	C	T	1: 158,763,795 (GRCm39)	R572Q	probably benign	Het
Pes1	CGGAGGAGGAGGAGGAGGAGGAGG	CGGAGGAGGAGGAGGAGGAGG	11: 3,927,719 (GRCm39)		probably benign	Het
Phf20	A	G	2: 156,129,787 (GRCm39)	H453R	probably damaging	Het
Prex1	G	T	2: 166,430,956 (GRCm39)	H615Q	probably benign	Het
Slc25a54	T	A	3: 108,987,982 (GRCm39)	I41N	probably damaging	Het
Slc35f5	A	G	1: 125,496,335 (GRCm39)	S157G	probably benign	Het
Sstr3	G	A	15: 78,424,187 (GRCm39)	R187W	probably damaging	Het
Trim41	T	C	11: 48,698,985 (GRCm39)	K420E	possibly damaging	Het
Tsnaxip1	A	G	8: 106,568,375 (GRCm39)	Y353C	probably damaging	Het
Vmn1r238	T	C	18: 3,123,305 (GRCm39)	I36M	probably benign	Het
Zfpm2	G	A	15: 40,966,355 (GRCm39)	E815K	probably benign	Het

Other mutations in Xylt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R5707:Xylt1	UTSW	7	117,255,717 (GRCm39)	missense	possibly damaging	0.95
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'- ACAGTCCGAGCCAATGAGAG -3'
(R):5'- GAGATCCTTCCCTTGGCTACTG -3'

Sequencing Primer
(F):5'- TGAGAGAGAAGAATGGCAGTCTTG -3'
(R):5'- CTGTGGCTTTCTCCCGAGG -3'

Posted On

2015-02-05