Mutagenetix > Incidental Mutation

Incidental Mutation 'R0040:Gxylt1'

64689

Institutional Source

Beutler Lab

Gene Symbol

Gxylt1

Ensembl Gene

ENSMUSG00000036197

Gene Name

glucoside xylosyltransferase 1

Synonyms

LOC382997, LOC223827, Glt8d3

MMRRC Submission

038334-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0040 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

93137623-93173060 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 93152436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155854 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049484] [ENSMUST00000057896] [ENSMUST00000230063]

AlphaFold

Q3UHH8

Predicted Effect

probably benign
Transcript: ENSMUST00000049484

SMART Domains

Protein: ENSMUSP00000047281
Gene: ENSMUSG00000036197

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	51	69	N/A	INTRINSIC
Pfam:Glyco_transf_8	81	330	9.9e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000057896

SMART Domains

Protein: ENSMUSP00000081947
Gene: ENSMUSG00000036197

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	51	69	N/A	INTRINSIC
Pfam:Glyco_transf_8	103	359	4.1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000230063

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 93.6%

Validation Efficiency

100% (88/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Antxr2	G	A	5: 98,086,284 (GRCm39)	T441I	possibly damaging	Het
Apcs	A	G	1: 172,722,023 (GRCm39)	Y108H	probably benign	Het
Atad5	A	G	11: 79,988,840 (GRCm39)	T666A	probably benign	Het
Atcay	C	T	10: 81,046,353 (GRCm39)		probably null	Het
Bahcc1	A	G	11: 120,159,196 (GRCm39)	D141G	probably damaging	Het
Ceacam10	A	G	7: 24,477,689 (GRCm39)	Y68C	probably damaging	Het
Cfap54	T	A	10: 92,812,901 (GRCm39)	Q1344L	probably benign	Het
Cyb5r4	A	G	9: 86,948,795 (GRCm39)		probably null	Het
Cyp2b9	G	T	7: 25,872,899 (GRCm39)	S14I	possibly damaging	Het
Dusp12	A	G	1: 170,708,226 (GRCm39)	Y164H	probably damaging	Het
Eml2	T	C	7: 18,930,539 (GRCm39)	V373A	possibly damaging	Het
Fat1	A	G	8: 45,479,441 (GRCm39)	D2829G	probably damaging	Het
Fbxl13	T	C	5: 21,691,371 (GRCm39)	T671A	probably damaging	Het
Fbxo28	G	T	1: 182,153,805 (GRCm39)		probably benign	Het
Fbxo44	A	G	4: 148,243,152 (GRCm39)	L89P	probably damaging	Het
Fndc3b	T	A	3: 27,610,266 (GRCm39)		probably null	Het
Gm9955	G	T	18: 24,842,209 (GRCm39)		probably benign	Het
Gprc6a	T	A	10: 51,491,080 (GRCm39)	K819*	probably null	Het
Hspa12a	T	C	19: 58,788,056 (GRCm39)	T589A	probably benign	Het
Idh2	A	G	7: 79,747,570 (GRCm39)	S317P	probably damaging	Het
Ifi30	T	C	8: 71,216,421 (GRCm39)		probably null	Het
Ifna16	G	A	4: 88,594,867 (GRCm39)	A76V	probably benign	Het
Itpr2	C	T	6: 146,246,638 (GRCm39)	E1127K	probably damaging	Het
Kank4	A	G	4: 98,667,457 (GRCm39)	V330A	probably benign	Het
Kpna1	T	A	16: 35,843,611 (GRCm39)	D328E	probably damaging	Het
Krt71	T	A	15: 101,646,868 (GRCm39)	H280L	possibly damaging	Het
Lrrc37	G	A	11: 103,433,816 (GRCm39)	P942S	probably damaging	Het
Mapt	A	G	11: 104,196,224 (GRCm39)	M446V	probably damaging	Het
Med1	C	T	11: 98,057,081 (GRCm39)		probably null	Het
Mif	T	A	10: 75,695,614 (GRCm39)	H63L	probably damaging	Het
Mycbp2	A	G	14: 103,461,708 (GRCm39)	V1447A	probably benign	Het
Myo1b	A	T	1: 51,821,148 (GRCm39)	I451N	probably damaging	Het
Nme2	A	T	11: 93,842,756 (GRCm39)		probably null	Het
Nubp1	A	G	16: 10,238,981 (GRCm39)	T199A	probably damaging	Het
Nup210l	T	A	3: 90,089,212 (GRCm39)	V1165D	probably damaging	Het
Nup98	T	A	7: 101,841,241 (GRCm39)	T122S	probably damaging	Het
Or14a258	A	T	7: 86,035,715 (GRCm39)	L51Q	probably benign	Het
Or1n2	T	C	2: 36,797,470 (GRCm39)	F171L	probably damaging	Het
Or5j1	C	T	2: 86,879,548 (GRCm39)	E11K	probably damaging	Het
Or6c202	T	A	10: 128,996,608 (GRCm39)	I82L	probably benign	Het
Pard3b	A	T	1: 62,676,979 (GRCm39)	Y1170F	probably damaging	Het
Pear1	T	C	3: 87,661,665 (GRCm39)	D536G	probably damaging	Het
Phrf1	G	T	7: 140,823,770 (GRCm39)	R196L	probably damaging	Het
Plxna2	G	T	1: 194,326,204 (GRCm39)	R46L	probably benign	Het
Rbm39	G	A	2: 155,990,099 (GRCm39)	T496I	possibly damaging	Het
Rpl14	C	G	9: 120,401,167 (GRCm39)	F3L	possibly damaging	Het
Rtf2	G	A	2: 172,286,616 (GRCm39)	S40N	probably damaging	Het
Runx2	G	A	17: 44,919,141 (GRCm39)	S481L	possibly damaging	Het
Sh3rf1	T	A	8: 61,782,286 (GRCm39)	Y143N	possibly damaging	Het
Siglec15	G	A	18: 78,092,092 (GRCm39)		probably benign	Het
Slc4a8	T	A	15: 100,687,727 (GRCm39)	I288N	probably damaging	Het
Ttc38	C	A	15: 85,725,690 (GRCm39)	F184L	probably damaging	Het
Vmn1r28	T	C	6: 58,242,879 (GRCm39)	Y241H	probably damaging	Het
Vmn2r110	A	T	17: 20,816,346 (GRCm39)	V59D	probably benign	Het
Wdpcp	A	G	11: 21,661,638 (GRCm39)	I303M	probably damaging	Het
Zc3h12d	G	A	10: 7,743,678 (GRCm39)	A483T	probably benign	Het
Zfp106	C	A	2: 120,362,094 (GRCm39)	K1008N	probably damaging	Het
Zfp334	A	G	2: 165,223,492 (GRCm39)	Y184H	probably benign	Het
Zfp68	G	A	5: 138,606,041 (GRCm39)	T94I	probably benign	Het
Zkscan3	A	T	13: 21,579,090 (GRCm39)		probably null	Het

Other mutations in Gxylt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Gxylt1	APN	15	93,152,273 (GRCm39)	missense	probably damaging	0.98
IGL03403:Gxylt1	APN	15	93,159,656 (GRCm39)	missense	possibly damaging	0.71
PIT4260001:Gxylt1	UTSW	15	93,159,708 (GRCm39)	missense	probably damaging	1.00
R0040:Gxylt1	UTSW	15	93,152,436 (GRCm39)	splice site	probably benign
R1033:Gxylt1	UTSW	15	93,142,958 (GRCm39)	missense	probably benign	0.00
R1413:Gxylt1	UTSW	15	93,152,273 (GRCm39)	missense	probably damaging	0.98
R2132:Gxylt1	UTSW	15	93,142,851 (GRCm39)	makesense	probably null
R2144:Gxylt1	UTSW	15	93,152,361 (GRCm39)	missense	probably benign	0.31
R3157:Gxylt1	UTSW	15	93,142,913 (GRCm39)	missense	probably benign	0.28
R3159:Gxylt1	UTSW	15	93,142,913 (GRCm39)	missense	probably benign	0.28
R5436:Gxylt1	UTSW	15	93,145,780 (GRCm39)	missense	probably damaging	1.00
R5567:Gxylt1	UTSW	15	93,152,180 (GRCm39)	critical splice donor site	probably null
R5570:Gxylt1	UTSW	15	93,152,180 (GRCm39)	critical splice donor site	probably null
R5599:Gxylt1	UTSW	15	93,152,198 (GRCm39)	small deletion	probably benign
R5656:Gxylt1	UTSW	15	93,143,542 (GRCm39)	missense	probably damaging	1.00
R7650:Gxylt1	UTSW	15	93,143,539 (GRCm39)	missense	probably benign	0.31
R9369:Gxylt1	UTSW	15	93,172,896 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- CCGGGCAAAGCGATTATACCATCC -3'
(R):5'- GCAAGAAGACAGCTTTCTCCCTGAC -3'

Sequencing Primer
(F):5'- GATTATACCATCCAATTCTGGGC -3'
(R):5'- TAGCGTATCAAGATGTA -3'

Posted On

2013-08-06