Mutagenetix > Incidental Mutation

Incidental Mutation 'R2164:B3glct'

235342

Institutional Source

Beutler Lab

Gene Symbol

B3glct

Ensembl Gene

ENSMUSG00000051950

Gene Name

beta-3-glucosyltransferase

Synonyms

B3galtl, LOC381694

MMRRC Submission

040167-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

R2164 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

149678230-149762599 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 149754156 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 417 (M417L)

Ref Sequence

ENSEMBL: ENSMUSP00000097972 (fasta)

Gene Model

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

AlphaFold

Q8BHT6

Predicted Effect

probably damaging
Transcript: ENSMUST00000100404
AA Change: M417L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097972
Gene: ENSMUSG00000051950
AA Change: M417L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201088

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202302

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

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 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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	CTGTAGGAAATCTTCAATGT	CTGT	11: 110,210,193		probably null	Het
Adcy8	C	T	15: 64,920,934	G58S	probably benign	Het
Adgra2	T	A	8: 27,114,204	L24*	probably null	Het
Ampd2	C	A	3: 108,085,369		probably benign	Het
Ankrd26	T	G	6: 118,525,791	E806A	probably damaging	Het
Apol9b	A	G	15: 77,735,439	D145G	probably benign	Het
Ash1l	T	A	3: 88,985,419	M1535K	probably benign	Het
Atf6	A	G	1: 170,794,735	M439T	probably damaging	Het
Cep192	A	T	18: 67,820,360	T483S	probably damaging	Het
Cep290	G	A	10: 100,518,795	E914K	probably damaging	Het
Chst15	C	T	7: 132,270,385	A56T	probably damaging	Het
Col27a1	A	T	4: 63,225,424	T450S	probably benign	Het
Cpsf2	A	G	12: 101,985,335	N177S	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Ctc1	C	T	11: 69,035,615	A859V	possibly damaging	Het
Dcakd	A	G	11: 102,997,357	Y134H	possibly damaging	Het
Dctn3	G	T	4: 41,723,065	Y22*	probably null	Het
Dync2h1	T	A	9: 7,124,797	D2025V	probably damaging	Het
Dync2li1	T	C	17: 84,636,274	S92P	probably damaging	Het
Eml5	A	G	12: 98,887,097	V81A	probably damaging	Het
Espl1	C	T	15: 102,319,588	R1625C	probably damaging	Het
Fam181a	T	C	12: 103,316,526	V230A	probably benign	Het
Fam213b	T	G	4: 154,898,149	Y56S	probably damaging	Het
Fanci	T	A	7: 79,395,995	D28E	probably benign	Het
Fmn1	A	G	2: 113,365,617	N554S	unknown	Het
Frem2	T	C	3: 53,537,330	Y2460C	probably damaging	Het
Fscb	G	A	12: 64,473,793	P300S	probably damaging	Het
Gm28042	A	G	2: 120,036,748	D438G	probably benign	Het
Map1b	C	T	13: 99,429,338	V2292M	unknown	Het
Nbas	A	G	12: 13,330,646	D635G	possibly damaging	Het
Ncapg2	A	G	12: 116,450,475		probably null	Het
Nrp2	A	T	1: 62,744,355	E205V	probably damaging	Het
Pcdhb3	A	T	18: 37,302,186	T402S	possibly damaging	Het
Phc1	T	C	6: 122,322,337	N638D	possibly damaging	Het
Plcb1	A	G	2: 135,346,330	N781S	possibly damaging	Het
Prkdc	T	A	16: 15,705,207	D1164E	probably damaging	Het
Proser2	T	A	2: 6,100,695	R353W	possibly damaging	Het
Ptges	T	A	2: 30,892,696	T115S	probably benign	Het
Ptprk	A	T	10: 28,560,142	D833V	probably damaging	Het
Pum1	T	A	4: 130,728,083	L173*	probably null	Het
Pum1	G	T	4: 130,728,084	L269F	probably damaging	Het
Rasgrp4	A	G	7: 29,139,045	Y106C	probably damaging	Het
Rbbp6	T	A	7: 122,999,474		probably benign	Het
Rdh1	A	G	10: 127,760,172	T79A	possibly damaging	Het
Relb	A	C	7: 19,613,761		probably null	Het
Rnf122	G	A	8: 31,112,164	W6*	probably null	Het
Rnf31	A	G	14: 55,592,537	E138G	possibly damaging	Het
Scaf8	G	A	17: 3,197,210	R936Q	probably damaging	Het
Scube3	T	A	17: 28,166,134	V686D	possibly damaging	Het
Snrnp27	A	T	6: 86,676,214	C141S	probably benign	Het
Spns2	C	T	11: 72,458,671	V252M	possibly damaging	Het
Tmem159	A	G	7: 120,120,239	E157G	possibly damaging	Het
Tomm40l	C	T	1: 171,220,134	S220N	probably damaging	Het
Trim17	A	G	11: 58,971,411	D423G	probably damaging	Het
Trpc6	A	AT	9: 8,610,465		probably null	Het
Uba5	A	T	9: 104,060,243	M89K	probably damaging	Het
Vav2	T	C	2: 27,273,706	D628G	probably damaging	Het
Vmn2r107	T	C	17: 20,375,642	L819P	probably damaging	Het
Vmn2r25	A	T	6: 123,839,559	D354E	possibly damaging	Het
Xrn1	A	G	9: 96,006,820	E984G	possibly damaging	Het
Zbtb17	T	C	4: 141,464,246	V223A	probably benign	Het
Zcchc11	G	A	4: 108,503,029	R481Q	possibly damaging	Het
Zfp592	T	C	7: 81,041,438	S1122P	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
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
R6908:B3glct	UTSW	5	149696476	critical splice donor 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'- GCCTGTAAACCAAAGCCCTC -3'
(R):5'- CAAGTAAGCAAACAAGCTCAGGA -3'

Sequencing Primer
(F):5'- CAAAGCCCTCCATTAGGTTAAGTGG -3'
(R):5'- CTCAGCAGTTAAGAGCACTGGC -3'

Posted On

2014-10-01