Mutagenetix > Incidental Mutation

Incidental Mutation 'R7980:Gxylt2'

651140

Institutional Source

Beutler Lab

Gene Symbol

Gxylt2

Ensembl Gene

ENSMUSG00000030074

Gene Name

glucoside xylosyltransferase 2

Synonyms

LOC232313, Glt8d4

MMRRC Submission

046021-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7980 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100704734-100810913 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 100787209 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032157 (fasta)

Gene Model

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

AlphaFold

Q810K9

Predicted Effect

probably null
Transcript: ENSMUST00000032157

SMART Domains

Protein: ENSMUSP00000032157
Gene: ENSMUSG00000030074

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

probably null
Transcript: ENSMUST00000032157

SMART Domains

Protein: ENSMUSP00000032157
Gene: ENSMUSG00000030074

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

probably null
Transcript: ENSMUST00000032157

SMART Domains

Protein: ENSMUSP00000032157
Gene: ENSMUSG00000030074

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

0.9489

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (87/87)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	A	G	4: 88,868,078	L101P	unknown	Het
5430419D17Rik	T	A	7: 131,234,777	V400E	probably damaging	Het
Actn3	G	A	19: 4,867,922	P339L	probably damaging	Het
Adamts12	G	A	15: 11,263,337	C595Y	probably damaging	Het
Agl	A	T	3: 116,792,181	N99K	probably benign	Het
Aplp1	A	T	7: 30,435,567	M592K	probably benign	Het
Arhgef11	C	T	3: 87,697,990	R251C	probably benign	Het
Arhgef12	A	T	9: 42,971,299	C1416*	probably null	Het
Asah1	A	G	8: 41,354,030	M119T		Het
Asxl2	A	T	12: 3,496,630	Q471H	probably damaging	Het
Atp6v1c2	A	T	12: 17,321,612	D61E	probably damaging	Het
Btbd16	C	A	7: 130,824,367	P520Q	probably damaging	Het
Cacnb2	A	G	2: 14,604,515	E22G	probably benign	Het
Catspere2	G	T	1: 178,003,044		probably null	Het
Cdc25a	T	A	9: 109,879,881	D124E	probably damaging	Het
Cdc42se1	A	T	3: 95,231,855		probably benign	Het
Cfap54	T	C	10: 92,982,060	K1265E	possibly damaging	Het
Chaf1b	A	G	16: 93,884,527	H11R	probably damaging	Het
Chil4	T	C	3: 106,202,744	K345E	probably damaging	Het
Cntnap1	A	G	11: 101,188,893	I1283V	probably benign	Het
Dagla	C	T	19: 10,252,042	C618Y	possibly damaging	Het
Ddx19b	C	T	8: 111,011,445	V224M	possibly damaging	Het
Dohh	C	T	10: 81,387,892	R260*	probably null	Het
Dsg3	A	T	18: 20,531,360	N472Y	probably benign	Het
Duox1	T	A	2: 122,347,320	N1528K	possibly damaging	Het
Eml6	A	G	11: 29,833,205	Y559H	probably damaging	Het
Esp4	A	G	17: 40,602,301	T20A	possibly damaging	Het
Fbxw21	T	C	9: 109,156,571		probably null	Het
Gcc2	T	A	10: 58,278,752		probably null	Het
Gm9774	T	A	3: 92,429,099	K99*	probably null	Het
Grin3b	C	T	10: 79,975,725	A715V	possibly damaging	Het
Hspa4	A	T	11: 53,280,577	S267T	probably benign	Het
Hspd1	A	G	1: 55,078,626	V491A	possibly damaging	Het
Idua	A	G	5: 108,680,620	E280G	probably benign	Het
Ift172	T	A	5: 31,260,644	E1267V	probably benign	Het
Itsn1	T	A	16: 91,905,294	V1448E	unknown	Het
Kat6a	A	G	8: 22,926,416	M647V	possibly damaging	Het
Kcnq4	A	T	4: 120,711,297	D407E	probably benign	Het
Kif1b	A	T	4: 149,269,921	F221I	probably damaging	Het
Lama2	G	T	10: 27,363,613	D315E	probably damaging	Het
Lrrn4	G	A	2: 132,878,176	L235F	probably damaging	Het
Map2k6	T	A	11: 110,499,384	I248N		Het
Mgat5	A	G	1: 127,479,511	Q638R	probably benign	Het
Mia2	A	G	12: 59,108,865	K455E	probably damaging	Het
Mrs2	A	G	13: 25,020,238	C3R	possibly damaging	Het
Nprl3	A	G	11: 32,237,357	I325T	probably damaging	Het
Nr1h3	T	A	2: 91,190,884	Q186L	probably benign	Het
Oas1f	A	G	5: 120,851,475	E159G	probably benign	Het
Olfr1024	A	G	2: 85,904,598	F152S	probably benign	Het
Olfr130	A	T	17: 38,067,521	M117L	possibly damaging	Het
Olfr460	T	A	6: 40,572,220	I278N	probably benign	Het
Olfr591	T	A	7: 103,173,035	S201C	probably damaging	Het
Olfr603	T	A	7: 103,383,763	I80F	probably damaging	Het
Olfr608	T	A	7: 103,470,297	F86Y	probably damaging	Het
Olfr725	T	A	14: 50,034,795	S203C	probably damaging	Het
Olfr967	T	C	9: 39,751,121	I245T	probably damaging	Het
Pbxip1	G	C	3: 89,446,341	S267T	probably benign	Het
Pcdhga10	A	T	18: 37,748,592	I469F	possibly damaging	Het
Pkd1l1	A	G	11: 8,854,375	S1739P	probably damaging	Het
Plcd4	A	C	1: 74,565,305	N788T	probably benign	Het
Pms2	T	A	5: 143,931,091	W838R	probably damaging	Het
Pnpla6	T	A	8: 3,536,562	V926D	probably damaging	Het
Pros1	A	T	16: 62,928,153	H663L	possibly damaging	Het
Prss55	T	C	14: 64,078,689		probably null	Het
Pum2	T	C	12: 8,713,904	Y283H	probably damaging	Het
Rad21	A	G	15: 51,965,026	S549P	probably benign	Het
Sap130	T	A	18: 31,648,129		probably null	Het
Sertad4	C	T	1: 192,846,881	S209N	probably benign	Het
Sez6	A	G	11: 77,953,842	T164A	probably benign	Het
Slc22a28	C	T	19: 8,101,473	R284Q	probably damaging	Het
Slco4c1	T	C	1: 96,836,925	K474R	probably benign	Het
Stx5a	T	C	19: 8,742,438	S56P	probably damaging	Het
Svopl	T	C	6: 38,014,809	T379A	probably damaging	Het
Sypl2	A	G	3: 108,217,692	F118L	probably damaging	Het
Tfrc	G	A	16: 32,617,149	V215M	probably benign	Het
Thnsl2	T	C	6: 71,138,668	N185S	probably damaging	Het
Tmem104	T	C	11: 115,243,754	I372T	probably damaging	Het
Tnfaip6	G	A	2: 52,051,058	G204S	probably damaging	Het
Trim12a	C	T	7: 104,304,128	E259K	probably benign	Het
Tubgcp6	G	A	15: 89,102,029	R1436C	probably benign	Het
Tyrp1	C	T	4: 80,840,627	L246F	probably damaging	Het
Ubr4	G	T	4: 139,418,406	V216F		Het
Unc5a	A	G	13: 54,999,506	I409V	possibly damaging	Het
Vmn1r15	T	C	6: 57,258,414	L89P	probably damaging	Het
Vmn1r32	A	T	6: 66,553,321	L157*	probably null	Het
Zcchc24	A	G	14: 25,719,761	Y160H	probably damaging	Het
Zfp184	A	T	13: 21,960,206	H694L	probably damaging	Het
Zfp345	A	C	2: 150,472,803	Y271*	probably null	Het
Zranb3	T	C	1: 128,102,934		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
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
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

PCR Primer
(F):5'- ACTCTGCATAGGTACATCCCC -3'
(R):5'- AGGTGGGAATATTTGTACACAGTGG -3'

Sequencing Primer
(F):5'- GGCAAGCAGCTCCTTTTATAG -3'
(R):5'- GTGGCATTATGAAAAGAACACTTACC -3'

Posted On

2020-09-15