Mutagenetix > Incidental Mutation

Incidental Mutation 'R7545:Xylt1'

584159

Institutional Source

Beutler Lab

Gene Symbol

Xylt1

Ensembl Gene

ENSMUSG00000030657

Gene Name

xylosyltransferase 1

Synonyms

MMRRC Submission

045650-MU

Accession Numbers

Essential gene?

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

Stock #

R7545 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116980214-117266853 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 117192812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 373 (D373N)

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: D373N

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000032892
Gene: ENSMUSG00000030657
AA Change: D373N

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: 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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	T	C	5: 107,696,040 (GRCm39)	Y159H	probably damaging	Het
A1cf	A	T	19: 31,912,190 (GRCm39)	N435I	possibly damaging	Het
Aasdh	A	T	5: 77,027,861 (GRCm39)	F849I	probably damaging	Het
Aatf	A	T	11: 84,361,502 (GRCm39)	M367K	probably benign	Het
Acnat1	A	T	4: 49,449,142 (GRCm39)	L208*	probably null	Het
Adam26b	C	T	8: 43,974,750 (GRCm39)	G84D	probably damaging	Het
Adamtsl1	A	T	4: 85,683,092 (GRCm39)	E54D	probably damaging	Het
Ang6	T	G	14: 44,239,636 (GRCm39)	I31L	probably benign	Het
Asic4	A	G	1: 75,449,060 (GRCm39)	N403S	probably damaging	Het
Bicd1	G	A	6: 149,414,990 (GRCm39)	V568M	probably benign	Het
Ccdc192	A	G	18: 57,863,895 (GRCm39)	E233G	probably damaging	Het
Cfap45	A	T	1: 172,366,163 (GRCm39)	M339L	probably benign	Het
Cnga4	A	G	7: 105,056,286 (GRCm39)	D399G	probably damaging	Het
Csnk1g3	C	T	18: 54,028,897 (GRCm39)	R17W	probably damaging	Het
Dnah11	A	G	12: 117,894,939 (GRCm39)	F3636S	probably damaging	Het
Dscaml1	A	T	9: 45,596,681 (GRCm39)	T842S	probably benign	Het
Ets2	C	A	16: 95,516,127 (GRCm39)	Q236K	probably benign	Het
Ext2	C	A	2: 93,644,108 (GRCm39)	V58L	probably benign	Het
Fam135b	T	C	15: 71,322,359 (GRCm39)	K1269E	possibly damaging	Het
Fech	A	G	18: 64,597,185 (GRCm39)	L258P	probably damaging	Het
Gls	A	G	1: 52,230,311 (GRCm39)	S467P	probably damaging	Het
Gm19410	T	A	8: 36,269,779 (GRCm39)	D1141E	probably damaging	Het
Gm45861	T	G	8: 28,071,032 (GRCm39)	M1246R	unknown	Het
Gm6902	T	A	7: 22,973,087 (GRCm39)	I147L	probably benign	Het
Itga7	G	T	10: 128,769,775 (GRCm39)		probably benign	Het
Itpripl1	A	T	2: 126,983,581 (GRCm39)	C180*	probably null	Het
Klhl33	C	A	14: 51,130,631 (GRCm39)	V28F	probably damaging	Het
Kmo	A	T	1: 175,481,194 (GRCm39)	D304V	probably damaging	Het
Mier2	T	C	10: 79,377,028 (GRCm39)	N537S	possibly damaging	Het
Mroh9	A	G	1: 162,902,277 (GRCm39)	I112T	possibly damaging	Het
Mterf1a	T	A	5: 3,940,995 (GRCm39)	E291V	probably damaging	Het
Muc5ac	T	A	7: 141,362,405 (GRCm39)	N1905K	unknown	Het
Myt1l	G	A	12: 29,877,087 (GRCm39)	R246Q	unknown	Het
Nav2	A	G	7: 49,232,605 (GRCm39)	E1854G	probably damaging	Het
Nelfcd	A	G	2: 174,265,771 (GRCm39)		probably null	Het
Nf1	T	A	11: 79,300,350 (GRCm39)	D287E	probably benign	Het
Nfyc	T	C	4: 120,630,966 (GRCm39)		probably null	Het
Obscn	A	T	11: 58,929,725 (GRCm39)	D5163E	probably damaging	Het
Or10d4c	C	T	9: 39,558,403 (GRCm39)	P127L	probably damaging	Het
Or8g28	T	A	9: 39,169,984 (GRCm39)		probably null	Het
Plppr1	A	T	4: 49,320,002 (GRCm39)	L209F	possibly damaging	Het
Pmm1	T	C	15: 81,835,803 (GRCm39)	D226G	probably damaging	Het
Polr1b	T	A	2: 128,959,766 (GRCm39)		probably null	Het
Ppp2r5a	A	G	1: 191,104,806 (GRCm39)	V80A	probably benign	Het
Pramel17	T	A	4: 101,695,159 (GRCm39)	I51L	probably benign	Het
Psrc1	A	G	3: 108,293,759 (GRCm39)		probably null	Het
Ralbp1	T	C	17: 66,174,593 (GRCm39)	T60A	probably benign	Het
Rasal2	A	T	1: 157,020,339 (GRCm39)	S217T	possibly damaging	Het
Rnase12	A	G	14: 51,294,395 (GRCm39)	F95L	probably damaging	Het
Rnf152	A	T	1: 105,211,957 (GRCm39)	I200K	probably damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,134 (GRCm39)		probably benign	Het
Ryk	C	T	9: 102,765,672 (GRCm39)	T327I	probably damaging	Het
Sell	A	T	1: 163,892,903 (GRCm39)	T40S	probably benign	Het
Slc15a2	G	A	16: 36,595,964 (GRCm39)	H153Y	probably damaging	Het
Slit3	A	G	11: 35,591,139 (GRCm39)	D1317G	possibly damaging	Het
Slx4	G	A	16: 3,817,164 (GRCm39)	T19M	probably benign	Het
Spata31	C	T	13: 65,070,359 (GRCm39)	R836*	probably null	Het
Specc1l	T	C	10: 75,080,921 (GRCm39)	S106P	probably benign	Het
Speer1a	C	A	5: 11,394,884 (GRCm39)	Q124K	possibly damaging	Het
Stc2	T	C	11: 31,317,799 (GRCm39)	N74S	probably damaging	Het
Strn3	A	T	12: 51,674,543 (GRCm39)	S498T	probably damaging	Het
Sva	C	T	6: 42,019,148 (GRCm39)	T106I	probably benign	Het
Tle3	T	A	9: 61,301,984 (GRCm39)	L131Q	possibly damaging	Het
Tmem135	T	A	7: 88,954,727 (GRCm39)	R97W	probably damaging	Het
Tmx4	A	G	2: 134,451,425 (GRCm39)	L176S	possibly damaging	Het
Tomm20l	C	A	12: 71,164,171 (GRCm39)		probably null	Het
Topors	A	T	4: 40,262,173 (GRCm39)	F370L	possibly damaging	Het
Ulk4	T	C	9: 120,970,904 (GRCm39)	T1023A	probably benign	Het
Unc13a	C	T	8: 72,094,153 (GRCm39)		probably null	Het
Urb2	T	C	8: 124,756,491 (GRCm39)	S733P	probably benign	Het
Vwf	A	G	6: 125,591,060 (GRCm39)	D750G		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
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'- AGCATGACAACAGCCAGTTC -3'
(R):5'- TTCCTCACTGTTGTTACGGGAAG -3'

Sequencing Primer
(F):5'- ACAGCCAGTTCCACTGTG -3'
(R):5'- AGCAGGACCCTGGAACTG -3'

Posted On

2019-10-17