Mutagenetix > Incidental Mutation

Incidental Mutation 'R6038:Gxylt2'

479296

Institutional Source

Beutler Lab

Gene Symbol

Gxylt2

Ensembl Gene

ENSMUSG00000030074

Gene Name

glucoside xylosyltransferase 2

Synonyms

LOC232313, Glt8d4

MMRRC Submission

044208-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6038 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100704734-100810913 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100804594 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 410 (L410Q)

Ref Sequence

ENSEMBL: ENSMUSP00000032157 (fasta)

Gene Model

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

AlphaFold

Q810K9

Predicted Effect

probably damaging
Transcript: ENSMUST00000032157
AA Change: L410Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032157
Gene: ENSMUSG00000030074
AA Change: L410Q

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

0.6467

Coding Region Coverage

1x: 99.8%
3x: 99.1%
10x: 93.7%
20x: 76.5%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	G	17: 46,304,360	C1327R	probably damaging	Het
Adcy7	A	G	8: 88,322,980	T704A	probably benign	Het
Adgra3	A	T	5: 49,999,145	Y414*	probably null	Het
Adgrf1	T	C	17: 43,295,209	S75P	probably benign	Het
Antxr1	C	A	6: 87,287,000		probably null	Het
Arid1b	A	T	17: 5,336,682	Y1470F	probably benign	Het
Baiap3	T	C	17: 25,246,334	D649G	probably damaging	Het
BC067074	G	A	13: 113,318,619	V400M	possibly damaging	Het
Cabin1	A	G	10: 75,739,366	V615A	probably benign	Het
Cntnap1	G	A	11: 101,184,636	R880Q	probably benign	Het
Col28a1	T	C	6: 8,013,140	T971A	probably benign	Het
Coro7	A	T	16: 4,679,550		probably null	Het
Defb19	T	G	2: 152,576,267		probably null	Het
Dnah17	T	C	11: 118,055,889	D3045G	probably benign	Het
Dock4	A	T	12: 40,733,351		probably null	Het
Egln3	A	G	12: 54,181,690	V210A	probably damaging	Het
Epb41l4a	T	C	18: 33,854,335	S330G	probably benign	Het
Epha7	G	A	4: 28,821,521	E229K	probably damaging	Het
Fam71a	C	T	1: 191,162,722	E575K	probably damaging	Het
Fam71e1	C	T	7: 44,500,295	R147W	probably damaging	Het
Fam71e2	T	C	7: 4,753,595		probably null	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
H2-M10.3	C	A	17: 36,368,395	C6F	probably benign	Het
Hecw1	G	T	13: 14,346,062	Q197K	probably benign	Het
Hk3	T	C	13: 55,006,560	M778V	probably benign	Het
Hydin	A	G	8: 110,599,031	T4691A	probably benign	Het
Kndc1	CT	C	7: 139,923,775		probably null	Het
Larp1	A	G	11: 58,041,605	E204G	possibly damaging	Het
Lrp12	A	C	15: 39,872,380	W738G	probably damaging	Het
March10	A	G	11: 105,402,051	S72P	probably damaging	Het
Mdga2	A	T	12: 66,630,053	D488E	probably damaging	Het
Mrc1	G	C	2: 14,257,071	W290C	probably damaging	Het
Nhp2	T	C	11: 51,620,085	V55A	probably benign	Het
Olfr1116	T	A	2: 87,269,267	I141N	possibly damaging	Het
Olfr58	A	G	9: 19,783,562	Y143C	probably benign	Het
Olfr741	T	C	14: 50,486,220	L254P	probably damaging	Het
Osbpl7	C	T	11: 97,050,716	P22S	probably benign	Het
Pebp1	A	T	5: 117,284,105	L124Q	probably benign	Het
Pfkp	G	T	13: 6,597,969	H524N	probably benign	Het
Pnmt	G	A	11: 98,387,768	D187N	probably damaging	Het
Ppl	A	T	16: 5,102,581	I355K	possibly damaging	Het
Prom1	A	T	5: 44,001,793	Y836N	probably damaging	Het
Rubcnl	T	C	14: 75,031,970	S23P	probably benign	Het
Sap130	T	A	18: 31,680,486	I532N	probably damaging	Het
Serpina1e	A	T	12: 103,946,836		probably null	Het
Skiv2l2	A	T	13: 112,891,290	S679T	probably benign	Het
Slc12a3	T	G	8: 94,330,472	S124R	probably benign	Het
Slc24a5	A	G	2: 125,085,731	T317A	probably benign	Het
Smarcad1	T	C	6: 65,073,248	S284P	possibly damaging	Het
Spag9	C	G	11: 94,112,092	R724G	probably damaging	Het
Speg	T	C	1: 75,418,459		probably null	Het
Steap3	A	G	1: 120,241,641	Y271H	probably damaging	Het
Syne2	C	T	12: 75,878,384	Q44*	probably null	Het
Syt16	G	A	12: 74,222,535		probably null	Het
Tas2r114	A	T	6: 131,689,481	C195S	possibly damaging	Het
Tcl1b4	T	C	12: 105,202,507	M10T	possibly damaging	Het
Tln1	G	C	4: 43,555,052	F259L	probably damaging	Het
Vmn2r60	C	A	7: 42,194,962	A583D	probably benign	Het
Wdhd1	T	C	14: 47,263,580	Q455R	possibly damaging	Het
Wdr17	A	G	8: 54,632,311		probably null	Het
Xbp1	T	C	11: 5,524,798	L233P	probably benign	Het
Zbtb17	A	G	4: 141,464,441	E288G	probably benign	Het

Other mutations in Gxylt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01290:Gxylt2	APN	6	100750447	missense	probably damaging	1.00
IGL01533:Gxylt2	APN	6	100783137	missense	probably damaging	1.00
R0047:Gxylt2	UTSW	6	100733378	splice site	probably benign
R0047:Gxylt2	UTSW	6	100733378	splice site	probably benign
R0328:Gxylt2	UTSW	6	100750535	splice site	probably benign
R1159:Gxylt2	UTSW	6	100804641	missense	possibly damaging	0.82
R2173:Gxylt2	UTSW	6	100798154	missense	probably damaging	1.00
R2307:Gxylt2	UTSW	6	100787212	missense	probably damaging	1.00
R4112:Gxylt2	UTSW	6	100783206	missense	probably damaging	1.00
R4378:Gxylt2	UTSW	6	100733200	missense	probably benign	0.00
R5032:Gxylt2	UTSW	6	100783181	missense	probably benign	0.22
R5206:Gxylt2	UTSW	6	100804615	missense	probably damaging	0.98
R5305:Gxylt2	UTSW	6	100787218	missense	probably damaging	0.98
R5394:Gxylt2	UTSW	6	100705114	missense	probably benign	0.01
R5497:Gxylt2	UTSW	6	100787329	missense	probably benign	0.10
R5814:Gxylt2	UTSW	6	100733235	missense	probably damaging	1.00
R5864:Gxylt2	UTSW	6	100783146	missense	probably damaging	1.00
R6038:Gxylt2	UTSW	6	100804594	missense	probably damaging	1.00
R6314:Gxylt2	UTSW	6	100798203	missense	probably damaging	1.00
R7051:Gxylt2	UTSW	6	100804576	nonsense	probably null
R7375:Gxylt2	UTSW	6	100750422	missense	probably benign	0.28
R7607:Gxylt2	UTSW	6	100798190	missense	possibly damaging	0.95
R7617:Gxylt2	UTSW	6	100783185	missense	probably damaging	1.00
R7658:Gxylt2	UTSW	6	100783143	missense	probably damaging	1.00
R7685:Gxylt2	UTSW	6	100804528	missense	probably benign	0.01
R7744:Gxylt2	UTSW	6	100783317	missense	probably damaging	0.99
R7980:Gxylt2	UTSW	6	100787209	critical splice acceptor site	probably null
R8093:Gxylt2	UTSW	6	100733227	missense	probably damaging	1.00
R8743:Gxylt2	UTSW	6	100787323	missense	probably benign	0.01
R8777:Gxylt2	UTSW	6	100750471	missense	probably damaging	0.99
R8777-TAIL:Gxylt2	UTSW	6	100750471	missense	probably damaging	0.99
R8871:Gxylt2	UTSW	6	100783148	missense	probably damaging	0.99
R9130:Gxylt2	UTSW	6	100733368	nonsense	probably null
R9524:Gxylt2	UTSW	6	100750455	missense	probably benign	0.22
R9691:Gxylt2	UTSW	6	100783148	missense	probably damaging	1.00
R9694:Gxylt2	UTSW	6	100733213	missense	probably benign	0.25
R9776:Gxylt2	UTSW	6	100705111	nonsense	probably null
Z1176:Gxylt2	UTSW	6	100783191	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-06-26