Mutagenetix > Incidental Mutations

Incidental Mutation 'R7449:Xylt1'

577564

Institutional Source

Beutler Lab

Gene Symbol

Xylt1

Ensembl Gene

ENSMUSG00000030657

Gene Name

xylosyltransferase 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R7449 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117380979-117673580 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 117592005 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 343 (I343L)

Ref Sequence

ENSEMBL: ENSMUSP00000032892 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032892
AA Change: I343L

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000032892
Gene: ENSMUSG00000030657
AA Change: I343L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,435,908	Y306N	possibly damaging	Het
Adgrv1	A	T	13: 81,499,073	V3116D	probably damaging	Het
Adssl1	A	T	12: 112,634,151	T185S	probably damaging	Het
Ago2	G	A	15: 73,146,499	P30L	probably damaging	Het
Atp5j	C	T	16: 84,831,363	V44M	probably benign	Het
Atp7b	T	A	8: 22,011,849	I833F	probably damaging	Het
Birc6	T	A	17: 74,702,341	N4869K	probably benign	Het
Cacna1c	C	T	6: 118,602,349	D1796N		Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cnga1	A	G	5: 72,605,304	I289T	probably benign	Het
Crybg1	C	A	10: 44,004,519	E224D	probably benign	Het
Dysf	T	C	6: 84,137,380	L1217P	possibly damaging	Het
Ebf2	T	A	14: 67,410,020	N339K	probably damaging	Het
Eva1c	T	C	16: 90,876,193		probably null	Het
Fam172a	A	G	13: 77,759,442	I41V	probably damaging	Het
Fam184a	T	C	10: 53,698,634	E293G	probably damaging	Het
Folh1	G	A	7: 86,731,748	P506S	probably benign	Het
Ftcd	A	T	10: 76,580,163	K210N	probably benign	Het
Gdf6	T	A	4: 9,844,494	V6D	possibly damaging	Het
Ghitm	C	A	14: 37,131,581	G101C	probably damaging	Het
Gimap5	T	A	6: 48,752,904	V136D	probably damaging	Het
Gm9745	T	A	13: 8,943,304	H51L	probably damaging	Het
Grm4	C	T	17: 27,435,371	G535D	probably damaging	Het
Gse1	T	C	8: 120,229,711	S314P	unknown	Het
Hnrnpdl	A	G	5: 100,037,155	I279T	probably damaging	Het
Itpr1	T	C	6: 108,389,384	S923P	probably damaging	Het
Krt39	C	A	11: 99,518,061	C303F	probably benign	Het
Lrrn1	T	C	6: 107,568,521	S427P	possibly damaging	Het
Lrrn3	T	A	12: 41,453,488	R277W	probably damaging	Het
Ltb4r1	T	C	14: 55,767,918	L226P	probably damaging	Het
Map1b	C	T	13: 99,508,140	R85Q	probably damaging	Het
Mcoln1	T	C	8: 3,507,285	L125P	probably damaging	Het
Nid1	T	G	13: 13,482,051	V589G	probably damaging	Het
Nlrp5	T	G	7: 23,417,526	F225C	probably benign	Het
Notch3	C	T	17: 32,157,966	A322T	probably damaging	Het
Olfr299	A	G	7: 86,465,855	H148R	probably benign	Het
Olfr69	G	T	7: 103,767,819	Q193K	probably benign	Het
Olfr854	T	A	9: 19,566,866	T173S	probably benign	Het
Otogl	A	G	10: 107,803,663	C1363R	probably damaging	Het
Ovol1	T	A	19: 5,553,597	D92V	probably benign	Het
Pigt	T	C	2: 164,502,499	L356P	probably damaging	Het
Plekhg3	A	G	12: 76,566,222	Q434R	probably damaging	Het
Plekhh1	T	C	12: 79,079,552	F1344L	probably benign	Het
Psmd3	T	A	11: 98,695,551	L515Q	probably damaging	Het
Pus1	A	G	5: 110,774,586	L405P	probably damaging	Het
Qtrt2	T	A	16: 43,881,032	H55L	probably benign	Het
Rasgrp1	T	C	2: 117,287,943	I522V	probably damaging	Het
Raver2	T	A	4: 101,102,663	H113Q	probably damaging	Het
Recql4	T	C	15: 76,705,565	D760G	unknown	Het
Rhobtb3	C	T	13: 75,910,741	V313M	probably benign	Het
Rhox4d	G	A	X: 37,518,992	G191E	unknown	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rnf185	T	C	11: 3,426,578	Q135R	probably benign	Het
Sema3f	T	C	9: 107,684,036	S584G	probably damaging	Het
Sh3pxd2a	T	A	19: 47,267,652	T904S	probably benign	Het
Slc4a10	T	C	2: 62,303,946	V1002A	probably benign	Het
Taf1b	T	C	12: 24,504,993	I55T	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Tenm4	A	T	7: 96,874,213	D1654V	possibly damaging	Het
Tgfb1	G	A	7: 25,704,838	V357M	probably damaging	Het
Tnxb	C	T	17: 34,703,361	P2383S	possibly damaging	Het
Trpm1	A	T	7: 64,208,975	M382L	probably benign	Het
Trrap	A	G	5: 144,851,209	Y3516C	probably damaging	Het
Txnrd1	T	A	10: 82,885,233	Y494*	probably null	Het
Ubr2	C	T	17: 46,964,788	E811K	probably damaging	Het
Ubxn4	T	A	1: 128,244,543	F25I	possibly damaging	Het
Vmn2r117	A	G	17: 23,459,895	M785T	probably damaging	Het
Vmn2r99	G	A	17: 19,379,145	D364N	probably benign	Het
Vps45	C	A	3: 96,047,136		probably null	Het
Wdr25	A	C	12: 109,026,441	H426P	probably damaging	Het
Wdr83	A	T	8: 85,079,681	W136R	probably damaging	Het
Znrd1as	A	G	17: 36,964,383	D16G	probably damaging	Het
Zscan4b	T	C	7: 10,904,058	Q53R	possibly damaging	Het

Other mutations in Xylt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Xylt1	APN	7	117650685	missense	probably damaging	0.99
IGL01306:Xylt1	APN	7	117548890	missense	probably benign	0.00
IGL01656:Xylt1	APN	7	117548993	missense	probably damaging	1.00
IGL02152:Xylt1	APN	7	117634770	missense	probably damaging	1.00
IGL02188:Xylt1	APN	7	117634737	missense	probably damaging	1.00
IGL02732:Xylt1	APN	7	117591937	missense	possibly damaging	0.75
IGL02944:Xylt1	APN	7	117634757	missense	probably benign	0.00
IGL03308:Xylt1	APN	7	117637751	nonsense	probably null
IGL03393:Xylt1	APN	7	117593713	missense	probably damaging	1.00
phloem	UTSW	7	117656584	missense	probably damaging	1.00
xylem	UTSW	7	117592036	missense	probably damaging	1.00
ANU23:Xylt1	UTSW	7	117548890	missense	probably benign	0.00
PIT4378001:Xylt1	UTSW	7	117548865	missense	possibly damaging	0.83
R0023:Xylt1	UTSW	7	117634701	missense	probably damaging	1.00
R0023:Xylt1	UTSW	7	117634701	missense	probably damaging	1.00
R0970:Xylt1	UTSW	7	117634736	missense	probably damaging	0.96
R1433:Xylt1	UTSW	7	117591952	missense	possibly damaging	0.51
R1762:Xylt1	UTSW	7	117637761	missense	probably benign	0.00
R2169:Xylt1	UTSW	7	117667437	missense	probably damaging	1.00
R2937:Xylt1	UTSW	7	117634784	missense	probably benign	0.04
R3024:Xylt1	UTSW	7	117548648	missense	probably damaging	1.00
R3855:Xylt1	UTSW	7	117593550	missense	probably damaging	1.00
R4006:Xylt1	UTSW	7	117475513	missense	probably benign	0.01
R4329:Xylt1	UTSW	7	117656461	missense	probably damaging	1.00
R4794:Xylt1	UTSW	7	117637635	missense	probably benign	0.07
R4975:Xylt1	UTSW	7	117667342	missense	probably damaging	1.00
R5225:Xylt1	UTSW	7	117592036	missense	probably damaging	1.00
R5679:Xylt1	UTSW	7	117643650	missense	probably damaging	1.00
R5707:Xylt1	UTSW	7	117656494	missense	possibly damaging	0.95
R5756:Xylt1	UTSW	7	117650700	missense	probably damaging	0.97
R5802:Xylt1	UTSW	7	117656691	missense	probably benign	0.43
R6057:Xylt1	UTSW	7	117591908	missense	probably benign	0.02
R6249:Xylt1	UTSW	7	117667305	missense	probably benign	0.11
R6298:Xylt1	UTSW	7	117656737	missense	probably damaging	0.96
R7159:Xylt1	UTSW	7	117637602	missense	probably damaging	1.00
R7198:Xylt1	UTSW	7	117656584	missense	probably damaging	1.00
R7323:Xylt1	UTSW	7	117592047	critical splice donor site	probably null
R7545:Xylt1	UTSW	7	117593585	missense	probably benign	0.11
R7786:Xylt1	UTSW	7	117643475	splice site	probably null
R7849:Xylt1	UTSW	7	117656668	missense	probably benign	0.06
R7867:Xylt1	UTSW	7	117475514	missense	probably benign	0.12
R8169:Xylt1	UTSW	7	117650619	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGCTATCAATGTTCCTGTCCCAG -3'
(R):5'- AGGAATCACATGCTGCTGTTC -3'

Sequencing Primer
(F):5'- GTTCGTACTTTCTAAAGGGCAGACC -3'
(R):5'- GGAATCACATGCTGCTGTTCTATCTC -3'

Posted On

2019-10-07