Mutagenetix > Incidental Mutation

Incidental Mutation 'R0040:Gxylt1'

18569

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: 84.2%
3x: 77.3%
10x: 61.4%
20x: 43.8%

Validation Efficiency

96% (74/77)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	G	6: 121,622,165 (GRCm39)	L356R	possibly damaging	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
Arpp21	T	C	9: 111,976,477 (GRCm39)		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
Cacng5	A	T	11: 107,775,336 (GRCm39)	L11Q	probably damaging	Het
Ccdc73	T	C	2: 104,822,429 (GRCm39)	S793P	probably damaging	Het
Ceacam10	A	G	7: 24,477,689 (GRCm39)	Y68C	probably damaging	Het
Csmd3	G	A	15: 47,497,212 (GRCm39)	P3062S	probably damaging	Het
Dctn4	A	G	18: 60,677,114 (GRCm39)	N145D	possibly damaging	Het
Dusp12	A	G	1: 170,708,226 (GRCm39)	Y164H	probably 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
Fndc3b	T	A	3: 27,610,266 (GRCm39)		probably null	Het
Gprc6a	T	A	10: 51,491,080 (GRCm39)	K819*	probably null	Het
Gucy2g	T	A	19: 55,205,734 (GRCm39)	T709S	possibly damaging	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
Kri1	T	C	9: 21,192,401 (GRCm39)	Y131C	probably damaging	Het
Krt71	T	A	15: 101,646,868 (GRCm39)	H280L	possibly damaging	Het
Lox	A	T	18: 52,653,898 (GRCm39)	H399Q	possibly damaging	Het
Mapt	A	G	11: 104,196,224 (GRCm39)	M446V	probably damaging	Het
Mpp7	A	T	18: 7,403,180 (GRCm39)		probably benign	Het
Mycbp2	A	G	14: 103,461,708 (GRCm39)	V1447A	probably benign	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Myo1b	A	T	1: 51,821,148 (GRCm39)	I451N	probably damaging	Het
Nubp1	A	G	16: 10,238,981 (GRCm39)	T199A	probably damaging	Het
Olfml2b	A	G	1: 170,496,320 (GRCm39)	H317R	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
Pira6	A	G	7: 4,284,482 (GRCm39)		noncoding transcript	Het
Pkhd1l1	T	A	15: 44,437,021 (GRCm39)	Y3460N	probably damaging	Het
Plxna2	G	T	1: 194,326,204 (GRCm39)	R46L	probably benign	Het
Rnf168	T	A	16: 32,096,991 (GRCm39)		probably null	Het
Rpl14	C	G	9: 120,401,167 (GRCm39)	F3L	possibly damaging	Het
Scara5	C	T	14: 66,000,166 (GRCm39)		probably benign	Het
Sh3rf1	T	A	8: 61,782,286 (GRCm39)	Y143N	possibly damaging	Het
Slc4a8	T	A	15: 100,687,727 (GRCm39)	I288N	probably damaging	Het
Synpr	G	A	14: 13,563,024 (GRCm38)	A86T	probably damaging	Het
Ttc38	C	A	15: 85,725,690 (GRCm39)	F184L	probably damaging	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
Zfp68	G	A	5: 138,606,041 (GRCm39)	T94I	probably benign	Het
Zfp867	C	T	11: 59,354,691 (GRCm39)	A213T	possibly damaging	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

Posted On

2013-03-25