Mutagenetix > Incidental Mutation

Incidental Mutation 'R5032:Gxylt2'

391749

Institutional Source

Beutler Lab

Gene Symbol

Gxylt2

Ensembl Gene

ENSMUSG00000030074

Gene Name

glucoside xylosyltransferase 2

Synonyms

Glt8d4, LOC232313

MMRRC Submission

042623-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5032 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100681638-100787738 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100760142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 226 (I226V)

Ref Sequence

ENSEMBL: ENSMUSP00000032157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032157]

AlphaFold

Q810K9

Predicted Effect

probably benign
Transcript: ENSMUST00000032157
AA Change: I226V

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000032157
Gene: ENSMUSG00000030074
AA Change: I226V

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	55	89	N/A	INTRINSIC
Pfam:Glyco_transf_8	112	364	1.5e-15	PFAM

Meta Mutation Damage Score

0.1118

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.0%

Validation Efficiency

97% (77/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a xylosyltransferase that elongates O-linked glucose bound to epidermal growth factor (EGF) repeats. The encoded protein catalyzes the addition of xylose to the O-glucose-modified residues of EGF repeats of Notch proteins. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Actl9	A	G	17: 33,653,062 (GRCm39)	N374S	probably benign	Het
Adam34l	T	C	8: 44,079,508 (GRCm39)	N239D	probably damaging	Het
Ahcyl2	T	A	6: 29,768,555 (GRCm39)		probably benign	Het
Arfgef2	T	C	2: 166,720,464 (GRCm39)	M1501T	probably benign	Het
Asb17	A	T	3: 153,550,175 (GRCm39)	D69V	probably damaging	Het
Atp13a5	T	C	16: 29,082,202 (GRCm39)	Y877C	probably damaging	Het
Atrip	T	C	9: 108,894,271 (GRCm39)	Q64R	probably benign	Het
Auts2	A	G	5: 131,505,730 (GRCm39)		probably benign	Het
Cacna2d1	G	T	5: 16,564,068 (GRCm39)	R893L	probably damaging	Het
Ccdc138	C	T	10: 58,409,458 (GRCm39)	R596C	probably damaging	Het
Cd163	A	G	6: 124,288,628 (GRCm39)	Y353C	probably damaging	Het
Cdon	T	C	9: 35,400,330 (GRCm39)	Y1015H	probably damaging	Het
Chsy3	T	C	18: 59,312,543 (GRCm39)	Y339H	probably damaging	Het
Cspp1	T	C	1: 10,136,744 (GRCm39)	W190R	probably benign	Het
Ddx1	A	T	12: 13,273,993 (GRCm39)	I570N	probably damaging	Het
Duox1	G	A	2: 122,167,798 (GRCm39)	R1027H	probably benign	Het
Dync1h1	C	T	12: 110,593,326 (GRCm39)	Q1198*	probably null	Het
Ecel1	G	A	1: 87,081,975 (GRCm39)	S246L	probably damaging	Het
Fam228b	T	G	12: 4,813,042 (GRCm39)	R109S	probably damaging	Het
Fut9	T	A	4: 25,799,245 (GRCm39)		probably benign	Het
Gm5592	A	G	7: 40,939,159 (GRCm39)	R814G	probably damaging	Het
Gmps	A	G	3: 63,897,746 (GRCm39)	K233E	probably benign	Het
Gramd1c	A	G	16: 43,811,026 (GRCm39)	Y438H	probably damaging	Het
Gsdmc	A	T	15: 63,673,882 (GRCm39)	D134E	possibly damaging	Het
Hc	T	C	2: 34,903,544 (GRCm39)	I1037V	probably benign	Het
Hspa4	T	G	11: 53,179,950 (GRCm39)	R69S	possibly damaging	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Kifc3	A	G	8: 95,829,354 (GRCm39)	S508P	probably damaging	Het
Krt7	G	A	15: 101,310,428 (GRCm39)	R25H	probably benign	Het
Lhfpl6	T	A	3: 52,950,854 (GRCm39)	S43T	possibly damaging	Het
Lrrc7	T	A	3: 157,887,217 (GRCm39)	K394N	possibly damaging	Het
Lypd4	A	T	7: 24,566,240 (GRCm39)	L28Q	probably damaging	Het
Mdc1	A	G	17: 36,161,481 (GRCm39)	E798G	probably benign	Het
Mta1	T	A	12: 113,097,145 (GRCm39)		probably null	Het
Mtg2	A	T	2: 179,725,183 (GRCm39)	Q132L	possibly damaging	Het
Myh1	G	T	11: 67,096,874 (GRCm39)	E382*	probably null	Het
Myo3a	T	C	2: 22,287,413 (GRCm39)	L175P	probably damaging	Het
Nckap5	A	T	1: 125,904,786 (GRCm39)	F144L	possibly damaging	Het
Nfrkb	T	A	9: 31,300,351 (GRCm39)		probably null	Het
Nmt2	C	T	2: 3,285,429 (GRCm39)	P5L	probably benign	Het
Nsmf	T	C	2: 24,945,073 (GRCm39)		probably null	Het
Oprl1	C	T	2: 181,360,795 (GRCm39)	R257C	probably damaging	Het
Or51q1	A	T	7: 103,628,581 (GRCm39)	M61L	probably damaging	Het
Or5a1	T	A	19: 12,097,420 (GRCm39)	I219F	probably benign	Het
Pcdhgc3	T	A	18: 37,940,638 (GRCm39)	N346K	probably damaging	Het
Pcnt	G	A	10: 76,190,911 (GRCm39)	P2791S	probably benign	Het
Pdia3	A	G	2: 121,244,620 (GRCm39)	N11S	probably benign	Het
Pik3c2g	A	T	6: 139,841,928 (GRCm39)	T778S	probably benign	Het
Pik3ip1	T	A	11: 3,283,520 (GRCm39)	I75N	probably damaging	Het
Pla2g4d	A	T	2: 120,112,176 (GRCm39)	Y118*	probably null	Het
Ppargc1b	A	G	18: 61,440,336 (GRCm39)	S845P	probably damaging	Het
Prdm2	A	T	4: 142,905,937 (GRCm39)	L50*	probably null	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pxdn	G	A	12: 30,053,140 (GRCm39)	V926I	probably benign	Het
Rab11fip2	A	T	19: 59,925,799 (GRCm39)	N139K	probably damaging	Het
Rcn2	T	A	9: 55,960,300 (GRCm39)	M189K	probably damaging	Het
Rev1	A	T	1: 38,113,570 (GRCm39)		probably benign	Het
Rhbg	C	A	3: 88,152,441 (GRCm39)	G368C	probably damaging	Het
Rnf214	A	G	9: 45,811,042 (GRCm39)		probably null	Het
Sf3a3	T	C	4: 124,618,959 (GRCm39)	S307P	probably benign	Het
Slc6a18	T	A	13: 73,814,442 (GRCm39)	Y494F	probably damaging	Het
Son	T	C	16: 91,454,552 (GRCm39)	S1100P	probably damaging	Het
Spag16	T	G	1: 69,892,511 (GRCm39)	N97K	probably benign	Het
Tmem192	T	C	8: 65,412,163 (GRCm39)	V114A	possibly damaging	Het
Urb1	G	T	16: 90,553,059 (GRCm39)	P1901T	probably benign	Het
Vwa5b2	A	G	16: 20,419,459 (GRCm39)	T601A	probably damaging	Het
Wdtc1	G	T	4: 133,036,162 (GRCm39)	T126K	possibly damaging	Het
Xirp2	T	C	2: 67,356,014 (GRCm39)	Y3592H	possibly damaging	Het
Xylt2	A	T	11: 94,560,842 (GRCm39)	V232E	probably damaging	Het

Other mutations in Gxylt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01290:Gxylt2	APN	6	100,727,408 (GRCm39)	missense	probably damaging	1.00
IGL01533:Gxylt2	APN	6	100,760,098 (GRCm39)	missense	probably damaging	1.00
R0047:Gxylt2	UTSW	6	100,710,339 (GRCm39)	splice site	probably benign
R0047:Gxylt2	UTSW	6	100,710,339 (GRCm39)	splice site	probably benign
R0328:Gxylt2	UTSW	6	100,727,496 (GRCm39)	splice site	probably benign
R1159:Gxylt2	UTSW	6	100,781,602 (GRCm39)	missense	possibly damaging	0.82
R2173:Gxylt2	UTSW	6	100,775,115 (GRCm39)	missense	probably damaging	1.00
R2307:Gxylt2	UTSW	6	100,764,173 (GRCm39)	missense	probably damaging	1.00
R4112:Gxylt2	UTSW	6	100,760,167 (GRCm39)	missense	probably damaging	1.00
R4378:Gxylt2	UTSW	6	100,710,161 (GRCm39)	missense	probably benign	0.00
R5206:Gxylt2	UTSW	6	100,781,576 (GRCm39)	missense	probably damaging	0.98
R5305:Gxylt2	UTSW	6	100,764,179 (GRCm39)	missense	probably damaging	0.98
R5394:Gxylt2	UTSW	6	100,682,075 (GRCm39)	missense	probably benign	0.01
R5497:Gxylt2	UTSW	6	100,764,290 (GRCm39)	missense	probably benign	0.10
R5814:Gxylt2	UTSW	6	100,710,196 (GRCm39)	missense	probably damaging	1.00
R5864:Gxylt2	UTSW	6	100,760,107 (GRCm39)	missense	probably damaging	1.00
R6038:Gxylt2	UTSW	6	100,781,555 (GRCm39)	missense	probably damaging	1.00
R6038:Gxylt2	UTSW	6	100,781,555 (GRCm39)	missense	probably damaging	1.00
R6314:Gxylt2	UTSW	6	100,775,164 (GRCm39)	missense	probably damaging	1.00
R7051:Gxylt2	UTSW	6	100,781,537 (GRCm39)	nonsense	probably null
R7375:Gxylt2	UTSW	6	100,727,383 (GRCm39)	missense	probably benign	0.28
R7607:Gxylt2	UTSW	6	100,775,151 (GRCm39)	missense	possibly damaging	0.95
R7617:Gxylt2	UTSW	6	100,760,146 (GRCm39)	missense	probably damaging	1.00
R7658:Gxylt2	UTSW	6	100,760,104 (GRCm39)	missense	probably damaging	1.00
R7685:Gxylt2	UTSW	6	100,781,489 (GRCm39)	missense	probably benign	0.01
R7744:Gxylt2	UTSW	6	100,760,278 (GRCm39)	missense	probably damaging	0.99
R7980:Gxylt2	UTSW	6	100,764,170 (GRCm39)	critical splice acceptor site	probably null
R8093:Gxylt2	UTSW	6	100,710,188 (GRCm39)	missense	probably damaging	1.00
R8743:Gxylt2	UTSW	6	100,764,284 (GRCm39)	missense	probably benign	0.01
R8777:Gxylt2	UTSW	6	100,727,432 (GRCm39)	missense	probably damaging	0.99
R8777-TAIL:Gxylt2	UTSW	6	100,727,432 (GRCm39)	missense	probably damaging	0.99
R8871:Gxylt2	UTSW	6	100,760,109 (GRCm39)	missense	probably damaging	0.99
R9130:Gxylt2	UTSW	6	100,710,329 (GRCm39)	nonsense	probably null
R9524:Gxylt2	UTSW	6	100,727,416 (GRCm39)	missense	probably benign	0.22
R9691:Gxylt2	UTSW	6	100,760,109 (GRCm39)	missense	probably damaging	1.00
R9694:Gxylt2	UTSW	6	100,710,174 (GRCm39)	missense	probably benign	0.25
R9776:Gxylt2	UTSW	6	100,682,072 (GRCm39)	nonsense	probably null
Z1176:Gxylt2	UTSW	6	100,760,152 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCATCCTCGGGTAACAGGATG -3'
(R):5'- AACTGGGTATTTCTTATGCGAGTC -3'

Sequencing Primer
(F):5'- AGTGGCAGCTGGTATAGAGTCC -3'
(R):5'- GTCAAGTTCATGAGCATGACC -3'

Posted On

2016-06-06