Mutagenetix > Incidental Mutation

Incidental Mutation 'R6908:B3glct'

538858

Institutional Source

Beutler Lab

Gene Symbol

B3glct

Ensembl Gene

ENSMUSG00000051950

Gene Name

beta-3-glucosyltransferase

Synonyms

B3galtl, LOC381694

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R6908 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

149678230-149762599 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 149696476 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100404]

AlphaFold

Q8BHT6

Predicted Effect

probably null
Transcript: ENSMUST00000100404

SMART Domains

Protein: ENSMUSP00000097972
Gene: ENSMUSG00000051950

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Fringe	93	216	7.4e-8	PFAM
Pfam:Fringe	253	470	1.8e-59	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

95% (52/55)

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 beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	C	16: 56,657,305	I1197T	probably benign	Het
Atp2a1	A	G	7: 126,448,535		probably null	Het
Bbs9	T	G	9: 22,567,723	I154S	probably damaging	Het
Brip1	T	C	11: 86,077,884	Y825C	probably damaging	Het
Ccdc186	A	T	19: 56,791,939		probably null	Het
Celf6	T	C	9: 59,603,823	V349A	probably benign	Het
Chd9	A	G	8: 90,956,416	T495A	probably benign	Het
Cxxc1	G	A	18: 74,220,559	C546Y	probably damaging	Het
Cxxc5	T	C	18: 35,859,215	V223A	probably damaging	Het
Dlc1	A	G	8: 36,937,687	F316S	probably benign	Het
Dnajc12	C	A	10: 63,397,325	Q82K	probably benign	Het
Dock8	G	A	19: 25,188,382	E1877K	probably damaging	Het
Epha3	T	G	16: 63,598,249	H611P	probably damaging	Het
Fpr-rs6	C	A	17: 20,182,439	C220F	probably damaging	Het
Fryl	A	G	5: 73,022,211	L2951P	probably damaging	Het
Gbp10	T	G	5: 105,221,032	T314P	probably damaging	Het
Hbb-bs	T	C	7: 103,827,534	N77D	probably benign	Het
Ints13	A	T	6: 146,555,033	D438E	probably damaging	Het
Itgb6	C	T	2: 60,650,021	V324M	probably benign	Het
Kdm7a	G	T	6: 39,144,439	L861M	possibly damaging	Het
Kirrel3	A	G	9: 35,013,401	T302A	possibly damaging	Het
Lama2	A	T	10: 27,031,196		probably null	Het
Lrp2	A	T	2: 69,472,365	C3007S	probably damaging	Het
Lypd3	G	C	7: 24,638,433	G75R	probably damaging	Het
Mastl	T	C	2: 23,155,976		probably benign	Het
Mcf2l	T	C	8: 13,018,919	V1087A	probably benign	Het
Mcmdc2	C	A	1: 9,930,778		probably null	Het
Ms4a3	A	G	19: 11,638,295	I39T	probably damaging	Het
Mylk	T	G	16: 34,880,273	C495G	probably benign	Het
Myo10	A	G	15: 25,804,383	D1588G	probably damaging	Het
Myo15	A	T	11: 60,506,006	T2634S	probably damaging	Het
Nlrp1b	T	C	11: 71,217,296	I460V	probably benign	Het
Nmt1	T	G	11: 103,058,254	S312A	possibly damaging	Het
Nynrin	T	G	14: 55,863,878	S335A	probably benign	Het
Olfr710	T	C	7: 106,944,632	Y123C	possibly damaging	Het
Paxip1	T	C	5: 27,791,224	Y19C	possibly damaging	Het
Pcdhb2	G	T	18: 37,296,524	A517S	probably damaging	Het
Pkd2l1	A	G	19: 44,152,446	I559T	probably damaging	Het
Plec	G	A	15: 76,185,881	Q806*	probably null	Het
Prss51	C	T	14: 64,096,152	A70V	probably benign	Het
Psd3	A	T	8: 67,964,177	I356K	probably benign	Het
Ptprn2	A	T	12: 116,888,888	I522F	probably benign	Het
Rab39	T	C	9: 53,706,069	D16G	probably damaging	Het
Ralgps1	T	C	2: 33,143,100	Q439R	probably benign	Het
Rapgef2	A	T	3: 79,104,063	D238E	probably benign	Het
Ripor2	G	A	13: 24,706,232	G697S	probably damaging	Het
Scn11a	A	T	9: 119,792,426	F642I	probably damaging	Het
Serinc4	G	A	2: 121,453,605	T310I	probably benign	Het
Sfpq	GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC	GCCGCCGCAGCAGCC	4: 127,021,626		probably benign	Het
Slc36a3	T	C	11: 55,149,886		probably benign	Het
Smc1b	A	G	15: 85,107,010	S656P	probably damaging	Het
Sorbs1	A	G	19: 40,352,332	S455P	probably damaging	Het
Ttn	C	A	2: 76,889,858		probably benign	Het
Tyw5	T	C	1: 57,401,523	R27G	probably damaging	Het
Vmn1r209	T	C	13: 22,806,230	T97A	possibly damaging	Het

Other mutations in B3glct

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00954:B3glct	APN	5	149696437	missense	probably benign
IGL01066:B3glct	APN	5	149709425	missense	possibly damaging	0.88
IGL01953:B3glct	APN	5	149745535	missense	probably benign	0.00
IGL02093:B3glct	APN	5	149732685	missense	probably benign	0.08
IGL02344:B3glct	APN	5	149726848	nonsense	probably null
IGL03183:B3glct	APN	5	149754142	missense	probably damaging	1.00
IGL03277:B3glct	APN	5	149726834	missense	probably damaging	1.00
mnemonic	UTSW	5	149745440	missense	probably benign	0.19
past	UTSW	5	149754186	missense	probably damaging	0.98
R0336:B3glct	UTSW	5	149746592	missense	probably damaging	1.00
R0782:B3glct	UTSW	5	149726810	missense	probably damaging	1.00
R0881:B3glct	UTSW	5	149739569	missense	probably damaging	1.00
R1445:B3glct	UTSW	5	149754139	missense	probably damaging	1.00
R2069:B3glct	UTSW	5	149709380	missense	probably damaging	1.00
R2164:B3glct	UTSW	5	149754156	missense	probably damaging	0.98
R2340:B3glct	UTSW	5	149745440	missense	probably benign	0.19
R2395:B3glct	UTSW	5	149754186	missense	probably damaging	0.98
R4612:B3glct	UTSW	5	149739557	missense	probably damaging	1.00
R4751:B3glct	UTSW	5	149725402	splice site	probably null
R5303:B3glct	UTSW	5	149754023	intron	probably benign
R5405:B3glct	UTSW	5	149709353	missense	probably damaging	1.00
R5444:B3glct	UTSW	5	149746520	missense	probably damaging	1.00
R5616:B3glct	UTSW	5	149729934	nonsense	probably null
R5683:B3glct	UTSW	5	149696437	missense	probably benign
R6240:B3glct	UTSW	5	149726788	missense	probably benign	0.01
R6409:B3glct	UTSW	5	149735451	missense	probably benign
R6904:B3glct	UTSW	5	149739604	splice site	probably null
R7265:B3glct	UTSW	5	149709320	missense	probably benign	0.00
R7395:B3glct	UTSW	5	149725604	splice site	probably null
R7543:B3glct	UTSW	5	149754139	missense	probably damaging	1.00
R8098:B3glct	UTSW	5	149750500	nonsense	probably null
R8356:B3glct	UTSW	5	149726789	missense	probably damaging	0.99
R8456:B3glct	UTSW	5	149726789	missense	probably damaging	0.99
R9498:B3glct	UTSW	5	149750429	critical splice acceptor site	probably null
R9797:B3glct	UTSW	5	149726839	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- ATACTTGTTTGTAGCAATGCAGCTG -3'
(R):5'- TCTGGAGTTACACGAGAACCC -3'

Sequencing Primer
(F):5'- TGTAGCAATGCAGCTGTTTGAAAAG -3'
(R):5'- GATTTATGTTTCCCATTCAACC -3'

Posted On

2018-11-06