Mutagenetix > Incidental Mutation

Incidental Mutation 'R7867:Xylt1'

607842

Institutional Source

Beutler Lab

Gene Symbol

Xylt1

Ensembl Gene

ENSMUSG00000030657

Gene Name

xylosyltransferase 1

Synonyms

MMRRC Submission

045919-MU

Accession Numbers

Essential gene?

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

Stock #

R7867 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116980214-117266853 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117074749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 122 (I122N)

Ref Sequence

ENSEMBL: ENSMUSP00000032892 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032892
AA Change: I122N

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000032892
Gene: ENSMUSG00000030657
AA Change: I122N

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: 99.7%
20x: 98.9%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,212,139 (GRCm39)		probably null	Het
Abcf1	C	A	17: 36,272,890 (GRCm39)	K252N	probably damaging	Het
Abi3	C	T	11: 95,724,851 (GRCm39)	A211T	possibly damaging	Het
Acaca	A	T	11: 84,140,350 (GRCm39)	D608V	possibly damaging	Het
Akap10	A	G	11: 61,791,272 (GRCm39)	Y396H	probably damaging	Het
Ap3b1	C	G	13: 94,619,771 (GRCm39)	S778W	unknown	Het
Arb2a	T	C	13: 78,050,837 (GRCm39)	M165T	probably benign	Het
Baat	G	A	4: 49,502,925 (GRCm39)	L66F	probably benign	Het
Cachd1	A	G	4: 100,845,759 (GRCm39)	N981S	probably damaging	Het
Cacna1c	C	T	6: 118,753,407 (GRCm39)	R243H		Het
Cdh23	T	A	10: 60,150,390 (GRCm39)	I2527F	probably damaging	Het
Cinp	A	G	12: 110,840,557 (GRCm39)	V198A	probably benign	Het
Clec4d	T	C	6: 123,244,123 (GRCm39)		probably null	Het
Cnn3	A	G	3: 121,248,704 (GRCm39)	I204V	probably benign	Het
Cpxm2	C	A	7: 131,650,800 (GRCm39)	G620V	probably damaging	Het
Ctrl	A	C	8: 106,659,497 (GRCm39)	S93A	probably benign	Het
Cyp2d34	A	G	15: 82,501,425 (GRCm39)	V301A	possibly damaging	Het
Dnaaf5	G	T	5: 139,147,565 (GRCm39)	K376N	probably damaging	Het
Eno2	C	T	6: 124,740,137 (GRCm39)	D300N	probably damaging	Het
Entrep3	T	A	3: 89,093,083 (GRCm39)	Y280*	probably null	Het
Fam117b	T	A	1: 60,014,046 (GRCm39)	N440K	probably damaging	Het
Fam131a	A	G	16: 20,514,584 (GRCm39)	S62G	probably benign	Het
Fancm	T	A	12: 65,163,240 (GRCm39)		probably null	Het
Fancm	A	G	12: 65,165,173 (GRCm39)	D1506G	probably benign	Het
Fhad1	C	A	4: 141,632,902 (GRCm39)	V1201L	probably benign	Het
Gdpd4	T	A	7: 97,623,185 (GRCm39)	C265*	probably null	Het
Gm3127	A	T	14: 15,425,888 (GRCm39)	T98S	probably null	Het
Gpsm1	A	T	2: 26,230,448 (GRCm39)	D466V	probably benign	Het
Gramd1a	T	G	7: 30,842,992 (GRCm39)	K76Q	probably damaging	Het
Gstp3	T	C	19: 4,108,808 (GRCm39)	D24G	probably damaging	Het
Kalrn	G	A	16: 33,810,161 (GRCm39)	T2531I	possibly damaging	Het
Klk7	C	A	7: 43,462,333 (GRCm39)	D108E	probably damaging	Het
Klkb1	A	G	8: 45,740,002 (GRCm39)	S97P	probably damaging	Het
Krt13	T	C	11: 100,012,008 (GRCm39)	D105G	probably damaging	Het
Lingo2	T	A	4: 35,709,302 (GRCm39)	H226L	probably benign	Het
Lrba	T	C	3: 86,275,896 (GRCm39)	S1755P	probably damaging	Het
Marf1	A	G	16: 13,946,470 (GRCm39)	V1217A	probably damaging	Het
Mtss1	A	T	15: 58,842,858 (GRCm39)	V118E	possibly damaging	Het
Mug1	T	A	6: 121,850,593 (GRCm39)	D696E	probably benign	Het
Ndufa3	C	T	7: 3,623,003 (GRCm39)	P56L	probably damaging	Het
Nop56	T	A	2: 130,120,205 (GRCm39)	C471S	possibly damaging	Het
Obscn	T	A	11: 58,891,652 (GRCm39)	H6960L	unknown	Het
Or13a22	C	T	7: 140,073,049 (GRCm39)	T166I	probably benign	Het
Pcdhb10	A	C	18: 37,546,619 (GRCm39)	Q565P	probably benign	Het
Pde6g	T	A	11: 120,338,953 (GRCm39)	H79L	possibly damaging	Het
Phrf1	G	T	7: 140,836,524 (GRCm39)	M265I	unknown	Het
Pkd2	T	C	5: 104,630,986 (GRCm39)	F470S	probably damaging	Het
Plekhm1	T	A	11: 103,271,153 (GRCm39)	D446V	probably damaging	Het
Prkaca	A	T	8: 84,721,963 (GRCm39)	T325S	probably benign	Het
Proz	A	T	8: 13,111,027 (GRCm39)		probably benign	Het
Pten	T	C	19: 32,792,894 (GRCm39)	F238L	probably benign	Het
Ptpn21	G	A	12: 98,671,435 (GRCm39)	L198F	probably damaging	Het
Rbm5	A	T	9: 107,628,930 (GRCm39)	S394T	probably benign	Het
Scaf8	T	G	17: 3,227,994 (GRCm39)	S408A	unknown	Het
Slc41a3	T	A	6: 90,617,909 (GRCm39)	F312I	probably damaging	Het
Soat2	T	A	15: 102,059,598 (GRCm39)		probably null	Het
Sorcs1	C	A	19: 50,218,698 (GRCm39)	G595*	probably null	Het
Spopfm1	G	C	3: 94,173,154 (GRCm39)	S50T	probably benign	Het
Stox1	G	T	10: 62,500,723 (GRCm39)	D612E	probably benign	Het
Suco	T	C	1: 161,665,365 (GRCm39)	I530M	possibly damaging	Het
Syne2	A	G	12: 76,030,501 (GRCm39)		probably null	Het
Thbd	G	A	2: 148,249,664 (GRCm39)	A68V	probably damaging	Het
Tmem109	A	T	19: 10,855,466 (GRCm39)	M4K	unknown	Het
Tmub1	G	C	5: 24,651,664 (GRCm39)	P85R	possibly damaging	Het
Tnk2	A	C	16: 32,500,053 (GRCm39)	Q1039H	probably damaging	Het
Tpm3	T	C	3: 89,993,775 (GRCm39)	L89S	probably damaging	Het
Unc13b	C	T	4: 43,232,573 (GRCm39)	R432*	probably null	Het
Vmn2r59	T	A	7: 41,661,707 (GRCm39)	I703F	probably damaging	Het
Zc3h12c	T	C	9: 52,055,248 (GRCm39)	E187G	probably damaging	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
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
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'- AGGAAAGGAGTGCTGCGTTTC -3'
(R):5'- TTAATCCAGTTGGGGTGGCC -3'

Sequencing Primer
(F):5'- TGCGTTTCAGCAGGGGG -3'
(R):5'- TGGCCAGTTACTGAGCCAAG -3'

Posted On

2019-12-20