Mutagenetix > Incidental Mutation

Incidental Mutation 'R5394:Gxylt2'

426035

Institutional Source

Beutler Lab

Gene Symbol

Gxylt2

Ensembl Gene

ENSMUSG00000030074

Gene Name

glucoside xylosyltransferase 2

Synonyms

LOC232313, Glt8d4

MMRRC Submission

042966-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5394 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

100704734-100810913 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100705114 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 91 (K91E)

Ref Sequence

ENSEMBL: ENSMUSP00000032157 (fasta)

Gene Model

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

AlphaFold

Q810K9

Predicted Effect

probably benign
Transcript: ENSMUST00000032157
AA Change: K91E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000032157
Gene: ENSMUSG00000030074
AA Change: K91E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141333

Meta Mutation Damage Score

0.0601

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

97% (96/99)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310050C09Rik	T	C	3: 92,868,698 (GRCm38)	E226G	probably damaging	Het
4930503B20Rik	A	G	3: 146,650,608 (GRCm38)	F182L	probably damaging	Het
4930503B20Rik	T	C	3: 146,650,958 (GRCm38)	Y65C	probably damaging	Het
4930590J08Rik	A	G	6: 91,919,193 (GRCm38)	T341A	probably benign	Het
4932438A13Rik	G	T	3: 36,917,668 (GRCm38)	V517F	probably damaging	Het
Adamts13	G	A	2: 26,986,558 (GRCm38)	V495I	probably benign	Het
Alms1	C	A	6: 85,623,088 (GRCm38)	T2101K	probably benign	Het
Als2	T	C	1: 59,174,946 (GRCm38)	D1361G	probably benign	Het
Ankdd1a	A	T	9: 65,505,214 (GRCm38)	M275K	probably benign	Het
Arfip2	A	T	7: 105,636,976 (GRCm38)	Y161*	probably null	Het
Asap3	A	T	4: 136,241,259 (GRCm38)	E707D	probably benign	Het
Atm	C	T	9: 53,507,777 (GRCm38)		probably null	Het
Atp9b	A	T	18: 80,776,837 (GRCm38)	S577R	probably benign	Het
Camk1d	G	C	2: 5,303,366 (GRCm38)	D274E	probably benign	Het
Cebpz	C	T	17: 78,922,205 (GRCm38)	D907N	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470 (GRCm38)		probably benign	Het
Cnst	T	A	1: 179,601,736 (GRCm38)		probably benign	Het
Cog2	G	T	8: 124,532,529 (GRCm38)	V196L	probably benign	Het
Col11a1	A	G	3: 114,194,184 (GRCm38)		probably null	Het
Cops6	T	A	5: 138,163,500 (GRCm38)		probably null	Het
Cspg4	A	G	9: 56,890,200 (GRCm38)	E1316G	probably damaging	Het
Cwc22	G	C	2: 77,929,339 (GRCm38)	D122E	possibly damaging	Het
Dapk2	G	A	9: 66,268,718 (GRCm38)	V300M	probably benign	Het
Dcp1b	C	A	6: 119,175,367 (GRCm38)	D25E	probably damaging	Het
Ddx10	A	T	9: 53,233,857 (GRCm38)	Y273*	probably null	Het
Dhx58	T	C	11: 100,698,208 (GRCm38)	E504G	probably benign	Het
Dync2h1	C	T	9: 7,120,899 (GRCm38)	W2129*	probably null	Het
Egr4	A	T	6: 85,512,460 (GRCm38)	L206Q	probably damaging	Het
Eif4g3	A	G	4: 138,103,398 (GRCm38)		probably null	Het
Fbxo46	A	G	7: 19,136,616 (GRCm38)	N387D	possibly damaging	Het
Fpr-rs3	T	G	17: 20,624,208 (GRCm38)	M224L	probably benign	Het
Gm14325	G	A	2: 177,832,984 (GRCm38)	H102Y	possibly damaging	Het
H2afy2	G	A	10: 61,751,687 (GRCm38)	T156M	possibly damaging	Het
Hecw1	A	T	13: 14,322,589 (GRCm38)	V278E	probably damaging	Het
Hydin	A	G	8: 110,539,842 (GRCm38)		probably null	Het
Iars	T	C	13: 49,722,165 (GRCm38)	L776P	probably damaging	Het
Kcnh2	T	A	5: 24,332,041 (GRCm38)	T182S	probably benign	Het
Lats2	T	G	14: 57,691,353 (GRCm38)	S1022R	probably benign	Het
Lef1	C	T	3: 131,194,659 (GRCm38)	P264S	probably damaging	Het
Lyrm1	A	C	7: 119,914,248 (GRCm38)	I79L	possibly damaging	Het
Man2b2	T	G	5: 36,814,518 (GRCm38)	Q618P	probably benign	Het
Mei1	T	C	15: 82,092,756 (GRCm38)	V180A	possibly damaging	Het
Mmp15	A	T	8: 95,366,404 (GRCm38)	N137I	probably damaging	Het
Mms22l	A	G	4: 24,517,115 (GRCm38)	D222G	possibly damaging	Het
Mut	T	A	17: 40,947,184 (GRCm38)	S414T	probably benign	Het
Myo18a	T	C	11: 77,853,350 (GRCm38)	M1846T	probably benign	Het
Neo1	A	T	9: 58,990,234 (GRCm38)	N146K	probably benign	Het
Nos3	A	G	5: 24,383,890 (GRCm38)	T1174A	probably benign	Het
Olfr1233	A	T	2: 89,339,462 (GRCm38)	I280N	probably damaging	Het
Olfr417	T	C	1: 174,369,270 (GRCm38)	Y118H	probably damaging	Het
Olfr566	A	T	7: 102,856,479 (GRCm38)	S268T	probably damaging	Het
Olfr960	A	T	9: 39,623,134 (GRCm38)	T4S	probably benign	Het
Pax8	A	T	2: 24,442,910 (GRCm38)		probably benign	Het
Pde5a	G	A	3: 122,818,009 (GRCm38)	C532Y	probably damaging	Het
Pigq	T	C	17: 25,931,472 (GRCm38)	D442G	possibly damaging	Het
Pik3c2g	T	C	6: 139,720,082 (GRCm38)	V43A	probably benign	Het
Pik3cb	T	C	9: 99,088,663 (GRCm38)	N325S	probably benign	Het
Pot1b	T	C	17: 55,700,063 (GRCm38)	K18R	probably benign	Het
Ppp1r42	A	T	1: 9,999,405 (GRCm38)	L144Q	probably damaging	Het
Prdm13	T	A	4: 21,679,455 (GRCm38)	Q345L	unknown	Het
Pyroxd2	T	A	19: 42,740,459 (GRCm38)	K167N	probably benign	Het
Rnf123	T	C	9: 108,070,731 (GRCm38)	Y131C	probably damaging	Het
Rnf25	T	C	1: 74,595,252 (GRCm38)	D204G	probably damaging	Het
Rpf2	G	A	10: 40,233,185 (GRCm38)	T60I	possibly damaging	Het
Scaf11	T	C	15: 96,419,458 (GRCm38)	N742D	probably benign	Het
Shank1	G	A	7: 44,352,651 (GRCm38)	D1257N	possibly damaging	Het
Shc2	A	G	10: 79,630,099 (GRCm38)	V168A	probably damaging	Het
Slc16a4	G	A	3: 107,292,442 (GRCm38)	V2M	probably benign	Het
Slc24a3	T	C	2: 145,613,574 (GRCm38)	V461A	probably benign	Het
Slc45a2	C	T	15: 11,027,785 (GRCm38)	T480I	probably damaging	Het
Slc4a4	T	A	5: 89,197,764 (GRCm38)		probably null	Het
Snx30	T	A	4: 59,879,329 (GRCm38)	D189E	probably benign	Het
Sspo	A	G	6: 48,495,260 (GRCm38)	Q4653R	possibly damaging	Het
Tpte	G	T	8: 22,327,790 (GRCm38)	R264I	probably damaging	Het
Tsc22d4	T	A	5: 137,758,774 (GRCm38)		probably benign	Het
Ubn1	T	C	16: 5,074,369 (GRCm38)	L585P	possibly damaging	Het
Usp24	A	T	4: 106,408,013 (GRCm38)	D1781V	probably damaging	Het
Utp20	A	T	10: 88,772,915 (GRCm38)	Y1514*	probably null	Het
Vmn1r55	A	T	7: 5,146,996 (GRCm38)	Y143N	probably damaging	Het
Vmn2r65	A	G	7: 84,946,654 (GRCm38)	V274A	probably benign	Het
Wdr17	A	G	8: 54,639,489 (GRCm38)	S1087P	possibly damaging	Het
Wnt5b	C	A	6: 119,440,322 (GRCm38)	R156L	probably damaging	Het
Zan	T	C	5: 137,464,074 (GRCm38)	T948A	unknown	Het
Zan	T	C	5: 137,435,634 (GRCm38)	D2279G	unknown	Het
Zfp758	T	C	17: 22,372,068 (GRCm38)	S4P	probably damaging	Het
Zfp839	A	G	12: 110,855,586 (GRCm38)	E278G	probably benign	Het
Zfp994	T	A	17: 22,200,525 (GRCm38)	H481L	probably damaging	Het
Zswim9	G	A	7: 13,260,983 (GRCm38)	R416C	probably damaging	Het

Other mutations in Gxylt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01290:Gxylt2	APN	6	100,750,447 (GRCm38)	missense	probably damaging	1.00
IGL01533:Gxylt2	APN	6	100,783,137 (GRCm38)	missense	probably damaging	1.00
R0047:Gxylt2	UTSW	6	100,733,378 (GRCm38)	splice site	probably benign
R0047:Gxylt2	UTSW	6	100,733,378 (GRCm38)	splice site	probably benign
R0328:Gxylt2	UTSW	6	100,750,535 (GRCm38)	splice site	probably benign
R1159:Gxylt2	UTSW	6	100,804,641 (GRCm38)	missense	possibly damaging	0.82
R2173:Gxylt2	UTSW	6	100,798,154 (GRCm38)	missense	probably damaging	1.00
R2307:Gxylt2	UTSW	6	100,787,212 (GRCm38)	missense	probably damaging	1.00
R4112:Gxylt2	UTSW	6	100,783,206 (GRCm38)	missense	probably damaging	1.00
R4378:Gxylt2	UTSW	6	100,733,200 (GRCm38)	missense	probably benign	0.00
R5032:Gxylt2	UTSW	6	100,783,181 (GRCm38)	missense	probably benign	0.22
R5206:Gxylt2	UTSW	6	100,804,615 (GRCm38)	missense	probably damaging	0.98
R5305:Gxylt2	UTSW	6	100,787,218 (GRCm38)	missense	probably damaging	0.98
R5497:Gxylt2	UTSW	6	100,787,329 (GRCm38)	missense	probably benign	0.10
R5814:Gxylt2	UTSW	6	100,733,235 (GRCm38)	missense	probably damaging	1.00
R5864:Gxylt2	UTSW	6	100,783,146 (GRCm38)	missense	probably damaging	1.00
R6038:Gxylt2	UTSW	6	100,804,594 (GRCm38)	missense	probably damaging	1.00
R6038:Gxylt2	UTSW	6	100,804,594 (GRCm38)	missense	probably damaging	1.00
R6314:Gxylt2	UTSW	6	100,798,203 (GRCm38)	missense	probably damaging	1.00
R7051:Gxylt2	UTSW	6	100,804,576 (GRCm38)	nonsense	probably null
R7375:Gxylt2	UTSW	6	100,750,422 (GRCm38)	missense	probably benign	0.28
R7607:Gxylt2	UTSW	6	100,798,190 (GRCm38)	missense	possibly damaging	0.95
R7617:Gxylt2	UTSW	6	100,783,185 (GRCm38)	missense	probably damaging	1.00
R7658:Gxylt2	UTSW	6	100,783,143 (GRCm38)	missense	probably damaging	1.00
R7685:Gxylt2	UTSW	6	100,804,528 (GRCm38)	missense	probably benign	0.01
R7744:Gxylt2	UTSW	6	100,783,317 (GRCm38)	missense	probably damaging	0.99
R7980:Gxylt2	UTSW	6	100,787,209 (GRCm38)	critical splice acceptor site	probably null
R8093:Gxylt2	UTSW	6	100,733,227 (GRCm38)	missense	probably damaging	1.00
R8743:Gxylt2	UTSW	6	100,787,323 (GRCm38)	missense	probably benign	0.01
R8777:Gxylt2	UTSW	6	100,750,471 (GRCm38)	missense	probably damaging	0.99
R8777-TAIL:Gxylt2	UTSW	6	100,750,471 (GRCm38)	missense	probably damaging	0.99
R8871:Gxylt2	UTSW	6	100,783,148 (GRCm38)	missense	probably damaging	0.99
R9130:Gxylt2	UTSW	6	100,733,368 (GRCm38)	nonsense	probably null
R9524:Gxylt2	UTSW	6	100,750,455 (GRCm38)	missense	probably benign	0.22
R9691:Gxylt2	UTSW	6	100,783,148 (GRCm38)	missense	probably damaging	1.00
R9694:Gxylt2	UTSW	6	100,733,213 (GRCm38)	missense	probably benign	0.25
R9776:Gxylt2	UTSW	6	100,705,111 (GRCm38)	nonsense	probably null
Z1176:Gxylt2	UTSW	6	100,783,191 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACACAGTACGGTAAGGAG -3'
(R):5'- AGCTGTATGGGTGTCACCAG -3'

Sequencing Primer
(F):5'- TAGCTTCGACCCTAGTCCGG -3'
(R):5'- ATGGGTGTCACCAGGGTGG -3'

Posted On

2016-08-04