Mutagenetix > Incidental Mutation

Incidental Mutation 'R7323:Xylt1'

568286

Institutional Source

Beutler Lab

Gene Symbol

Xylt1

Ensembl Gene

ENSMUSG00000030657

Gene Name

xylosyltransferase 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R7323 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116980214-117266853 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 117191274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032892 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000032892

SMART Domains

Protein: ENSMUSP00000032892
Gene: ENSMUSG00000030657

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (73/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	C	A	5: 100,126,945 (GRCm39)	A9E	unknown	Het
6030452D12Rik	A	T	8: 107,227,411 (GRCm39)		probably null	Het
Abcb11	C	A	2: 69,117,979 (GRCm39)	Q466H	probably damaging	Het
Adam20	A	G	8: 41,248,421 (GRCm39)	D177G	probably benign	Het
Ampd1	A	T	3: 102,992,696 (GRCm39)	Q150L	probably benign	Het
Angpt2	A	C	8: 18,755,840 (GRCm39)	M209R	probably benign	Het
Aoc2	G	A	11: 101,219,371 (GRCm39)	R598Q	probably damaging	Het
Arap1	A	G	7: 101,049,418 (GRCm39)	D960G	probably damaging	Het
Bhlhe40	G	C	6: 108,642,242 (GRCm39)	L395F	probably benign	Het
Cacna1i	T	C	15: 80,275,854 (GRCm39)	C1882R	possibly damaging	Het
Ccr6	A	G	17: 8,475,611 (GRCm39)	N272S	possibly damaging	Het
Ces1f	A	T	8: 93,998,472 (GRCm39)	W175R	probably damaging	Het
Ces3a	A	C	8: 105,782,239 (GRCm39)	H364P	possibly damaging	Het
Cfap54	T	C	10: 92,637,000 (GRCm39)	M3130V	probably benign	Het
Clca3b	G	A	3: 144,531,681 (GRCm39)	P708S	possibly damaging	Het
Cps1	A	T	1: 67,197,028 (GRCm39)	T360S	probably benign	Het
Cramp1	A	T	17: 25,201,379 (GRCm39)	M701K	possibly damaging	Het
Dnah1	A	G	14: 31,020,664 (GRCm39)	I1235T	probably damaging	Het
Efcab3	T	C	11: 104,920,837 (GRCm39)	L4676P	probably benign	Het
Ergic1	A	G	17: 26,860,644 (GRCm39)	E244G	probably damaging	Het
Fignl2	C	A	15: 100,951,382 (GRCm39)	R300L	unknown	Het
Fry	T	C	5: 150,419,814 (GRCm39)	M628T		Het
Fscn3	A	G	6: 28,431,544 (GRCm39)	T292A	possibly damaging	Het
Fsip2	A	T	2: 82,819,860 (GRCm39)	I5198L	probably benign	Het
Gm4181	T	A	14: 51,869,990 (GRCm39)	R104W	probably damaging	Het
Gnl1	G	A	17: 36,294,305 (GRCm39)	R308H	probably benign	Het
Gtf2h4	G	T	17: 35,980,857 (GRCm39)	L271I	probably damaging	Het
Helq	GTTT	GTT	5: 100,931,051 (GRCm39)		probably null	Het
Hhatl	A	T	9: 121,618,652 (GRCm39)	W117R	probably benign	Het
Hlx	A	G	1: 184,462,993 (GRCm39)	F220L	probably benign	Het
Il31ra	T	C	13: 112,688,497 (GRCm39)	I27V	probably damaging	Het
Itga8	T	G	2: 12,266,940 (GRCm39)	D165A	probably damaging	Het
Krt33a	A	C	11: 99,902,801 (GRCm39)	V341G	probably benign	Het
Lrrc3c	A	G	11: 98,490,266 (GRCm39)	M208V	possibly damaging	Het
Mapk8ip3	A	T	17: 25,120,135 (GRCm39)	S947T	probably benign	Het
Muc5b	A	G	7: 141,412,444 (GRCm39)	I1797V	unknown	Het
Myh2	A	T	11: 67,088,191 (GRCm39)	T1936S	probably benign	Het
Nr1h2	T	C	7: 44,199,746 (GRCm39)	Y391C	possibly damaging	Het
Or1l8	T	A	2: 36,817,986 (GRCm39)	I47F	probably damaging	Het
Or4c114	A	T	2: 88,904,811 (GRCm39)	I208K	probably damaging	Het
Or4e2	A	G	14: 52,688,670 (GRCm39)	I267V	probably benign	Het
Or5d40	A	G	2: 88,015,952 (GRCm39)	T244A	possibly damaging	Het
Phf3	A	G	1: 30,852,211 (GRCm39)	M1064T	probably benign	Het
Pkd1	A	G	17: 24,794,025 (GRCm39)	E1904G	probably benign	Het
Polrmt	A	G	10: 79,576,483 (GRCm39)	V491A	probably benign	Het
Ppm1j	C	A	3: 104,691,429 (GRCm39)	R306S	probably damaging	Het
Prkd2	T	C	7: 16,581,547 (GRCm39)	F134S	probably benign	Het
Prpf8	C	A	11: 75,382,610 (GRCm39)	Q439K	probably benign	Het
Prss50	A	T	9: 110,692,800 (GRCm39)	I307F	possibly damaging	Het
Rgs20	A	G	1: 4,982,535 (GRCm39)		probably null	Het
Rnf144b	A	G	13: 47,393,258 (GRCm39)	E199G	probably damaging	Het
Slc12a4	C	T	8: 106,682,347 (GRCm39)	G121S	probably damaging	Het
Slc22a26	A	T	19: 7,768,259 (GRCm39)	V233E	probably damaging	Het
Slc27a2	T	G	2: 126,395,124 (GRCm39)	L17R	probably benign	Het
Slc6a17	A	G	3: 107,398,794 (GRCm39)	V269A	probably benign	Het
Srp54c	T	C	12: 55,304,237 (GRCm39)	V395A	probably benign	Het
Sspo	A	T	6: 48,438,581 (GRCm39)	S1550C	possibly damaging	Het
Tet1	A	G	10: 62,715,818 (GRCm39)		probably benign	Het
Themis	A	T	10: 28,609,497 (GRCm39)	H88L	probably benign	Het
Tmem63b	G	A	17: 45,971,773 (GRCm39)	T814M	possibly damaging	Het
Tnc	G	A	4: 63,889,469 (GRCm39)	T1679I	probably damaging	Het
Tnfrsf11a	A	G	1: 105,772,456 (GRCm39)	D581G	probably damaging	Het
Trim30d	A	C	7: 104,132,555 (GRCm39)	V244G	probably benign	Het
Trpv1	T	C	11: 73,151,163 (GRCm39)	S784P	possibly damaging	Het
Tulp1	G	A	17: 28,575,398 (GRCm39)	T103M	probably damaging	Het
Ubap2l	A	C	3: 89,922,713 (GRCm39)	V775G	unknown	Het
Vmn2r69	A	C	7: 85,060,972 (GRCm39)	I204R	possibly damaging	Het
Vmn2r72	T	A	7: 85,399,771 (GRCm39)	D426V	probably benign	Het
Vmn2r93	G	A	17: 18,533,497 (GRCm39)	W467*	probably null	Het
Wbp2nl	T	C	15: 82,198,542 (GRCm39)	*360Q	probably null	Het
Zc3h6	T	G	2: 128,835,331 (GRCm39)	N123K	unknown	Het
Zfp853	T	C	5: 143,275,110 (GRCm39)	Q185R	unknown	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
R3024:Xylt1	UTSW	7	117,147,883 (GRCm39)	missense	probably damaging	1.00
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
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'- CTGGTTTTCCCTAGGCAAAGC -3'
(R):5'- GAGCACCACAACGAAACATTCTG -3'

Sequencing Primer
(F):5'- GCCAACAAGAATGTCCAGTG -3'
(R):5'- CGAAACATTCTGAAACTAACACAC -3'

Posted On

2019-06-26