Mutagenetix > Incidental Mutation

Incidental Mutation 'R9691:Gxylt2'

729158

Institutional Source

Beutler Lab

Gene Symbol

Gxylt2

Ensembl Gene

ENSMUSG00000030074

Gene Name

glucoside xylosyltransferase 2

Synonyms

Glt8d4, LOC232313

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9691 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100681638-100787738 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100760109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 215 (T215S)

Ref Sequence

ENSEMBL: ENSMUSP00000032157 (fasta)

Gene Model

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

AlphaFold

Q810K9

Predicted Effect

probably damaging
Transcript: ENSMUST00000032157
AA Change: T215S

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

SMART Domains

Protein: ENSMUSP00000032157
Gene: ENSMUSG00000030074
AA Change: T215S

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

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.] 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
Ahnak	T	C	19: 8,989,090 (GRCm39)	M3458T	possibly damaging	Het
Akap9	T	G	5: 4,010,491 (GRCm39)	L398R	probably damaging	Het
Anks3	A	T	16: 4,759,840 (GRCm39)	C635S	probably benign	Het
Ankzf1	C	A	1: 75,175,196 (GRCm39)	Q649K	probably benign	Het
Atp8a2	T	C	14: 60,245,829 (GRCm39)	E621G	probably damaging	Het
Bscl2	A	G	19: 8,817,110 (GRCm39)	T13A	probably benign	Het
Cd109	T	C	9: 78,611,074 (GRCm39)	L1230P	possibly damaging	Het
Celsr2	T	A	3: 108,301,551 (GRCm39)	S2678C	probably damaging	Het
Cnot10	A	G	9: 114,420,715 (GRCm39)	L709P	probably damaging	Het
Col5a1	G	A	2: 27,842,994 (GRCm39)	R449Q	unknown	Het
Cyp3a25	T	A	5: 145,931,732 (GRCm39)	E125D	probably benign	Het
Ddx50	T	G	10: 62,476,524 (GRCm39)	I250L	probably benign	Het
Dnah10	A	G	5: 124,852,249 (GRCm39)	N1859S	probably damaging	Het
Dnajc13	A	G	9: 104,042,211 (GRCm39)	L2008P	probably damaging	Het
Dock4	C	T	12: 40,686,097 (GRCm39)	L111F	probably damaging	Het
Ffar3	C	G	7: 30,555,119 (GRCm39)	R67P	probably damaging	Het
Gdap2	C	T	3: 100,109,441 (GRCm39)	A486V	probably benign	Het
Gm45871	G	A	18: 90,610,111 (GRCm39)	V450M	possibly damaging	Het
Golgb1	T	A	16: 36,718,996 (GRCm39)	S342T	probably damaging	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Grm5	T	C	7: 87,723,903 (GRCm39)	I731T	probably damaging	Het
Jakmip2	A	T	18: 43,673,685 (GRCm39)	I793N	probably damaging	Het
Kcnc1	C	A	7: 46,076,955 (GRCm39)	C252*	probably null	Het
Kdr	T	A	5: 76,129,521 (GRCm39)	D122V	probably damaging	Het
Kmt2a	G	A	9: 44,731,557 (GRCm39)	P2920L	unknown	Het
Lrrc31	T	C	3: 30,741,617 (GRCm39)	E264G	probably damaging	Het
Mbnl1	A	G	3: 60,529,614 (GRCm39)	T256A	probably benign	Het
Myh3	A	G	11: 66,991,921 (GRCm39)	E1822G	possibly damaging	Het
Ndst4	A	G	3: 125,518,344 (GRCm39)	N155S	unknown	Het
Negr1	T	C	3: 156,267,898 (GRCm39)	C23R	probably damaging	Het
Nfia	T	A	4: 97,671,465 (GRCm39)	D58E	probably damaging	Het
Nrp1	A	T	8: 129,202,650 (GRCm39)	N545I	probably damaging	Het
Nrtn	T	A	17: 57,059,480 (GRCm39)		probably benign	Het
Or2a14	A	G	6: 43,130,629 (GRCm39)	H130R	probably benign	Het
Or4c100	T	C	2: 88,356,421 (GRCm39)	F165L	probably benign	Het
Or5an11	C	T	19: 12,246,379 (GRCm39)	R262*	probably null	Het
Pclo	G	A	5: 14,727,558 (GRCm39)	D2139N	unknown	Het
Phlpp1	C	T	1: 106,246,699 (GRCm39)	Q630*	probably null	Het
Pkd1	T	C	17: 24,796,812 (GRCm39)	V2429A	possibly damaging	Het
Pramel20	T	A	4: 143,299,328 (GRCm39)	H330Q	probably benign	Het
Pramel30	T	C	4: 144,056,844 (GRCm39)	L9P	probably damaging	Het
Prkch	A	G	12: 73,805,730 (GRCm39)	K502E	probably damaging	Het
Rad51ap2	A	G	12: 11,509,413 (GRCm39)	K930E	possibly damaging	Het
Reep4	T	A	14: 70,785,683 (GRCm39)	N204K	probably benign	Het
Rin2	T	C	2: 145,690,764 (GRCm39)	L144P	probably damaging	Het
Scfd2	T	C	5: 74,691,611 (GRCm39)	S224G	possibly damaging	Het
Srprb	A	G	9: 103,069,481 (GRCm39)	Y158H	probably damaging	Het
Thbs4	T	A	13: 92,890,896 (GRCm39)	H857L	probably damaging	Het
Tmem184a	A	G	5: 139,798,790 (GRCm39)	L77P	possibly damaging	Het
Trbv26	G	T	6: 41,204,478 (GRCm39)	C7F	probably benign	Het
Trip11	A	G	12: 101,850,123 (GRCm39)	S1314P	probably benign	Het
Ttc28	A	T	5: 111,431,879 (GRCm39)	T1951S	probably benign	Het
Ttc29	A	C	8: 78,972,895 (GRCm39)	D115A	possibly damaging	Het
Upf2	G	A	2: 6,032,024 (GRCm39)	V857I	unknown	Het
Vmn2r43	A	G	7: 8,247,787 (GRCm39)	V792A	probably damaging	Het
Washc5	A	T	15: 59,218,706 (GRCm39)	I687N	probably damaging	Het
Wwc2	G	A	8: 48,281,799 (GRCm39)		probably benign	Het
Xirp2	G	A	2: 67,340,539 (GRCm39)	E927K	possibly damaging	Het
Zc3hav1l	A	G	6: 38,276,112 (GRCm39)	F22L	probably benign	Het
Zfp407	C	T	18: 84,578,312 (GRCm39)	A934T	probably benign	Het
Zfp986	T	A	4: 145,626,070 (GRCm39)	S243R	probably benign	Het
Zfyve9	T	C	4: 108,576,305 (GRCm39)	T259A	probably benign	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
R5032:Gxylt2	UTSW	6	100,760,142 (GRCm39)	missense	probably benign	0.22
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
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'- TAGAGCCAGGTTTATCTGCCC -3'
(R):5'- AGCATGACCCCGGAGTTAAC -3'

Sequencing Primer
(F):5'- AGAGCCAGGTTTATCTGCCCTTAAG -3'
(R):5'- AGTTAACCCCGGCAGAGC -3'

Posted On

2022-10-06