Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02104:B3gnt6'

279891

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

B3gnt6

Ensembl Gene

ENSMUSG00000074004

Gene Name

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

IGL02104

Quality Score

Status

Chromosome

Chromosomal Location

98192417-98199481 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 98194101 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 217 (D217E)

Ref Sequence

ENSEMBL: ENSMUSP00000095879 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098278]

Predicted Effect

probably damaging
Transcript: ENSMUST00000098278
AA Change: D217E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000095879
Gene: ENSMUSG00000074004
AA Change: D217E

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
Pfam:Galactosyl_T	126	322	1.1e-48	PFAM

Coding Region Coverage

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-N-acetylglucosaminyltransferase that adds an N-acetylglucosamine moiety to N-acetylgalactosamine-modified serine or threonine. The encoded enzyme is responsible for creating the core 3 structure of O-glycans, which are important components of mucin-type glycoproteins. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozgous for a knock-out allele exhibit increased permeability of the intestinal barrier, increased susceptibility to DSS-induced colitis and accelerated colorectal tumorigenesis in mice treated with AOM and DSS. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	T	C	7: 125,331,542		noncoding transcript	Het
Abcb5	T	A	12: 118,940,680	Q125L	probably damaging	Het
Acap3	G	A	4: 155,905,085	R662H	probably damaging	Het
Aox4	T	A	1: 58,236,657		probably benign	Het
Aqp6	T	C	15: 99,604,278	S285P	probably benign	Het
Arhgef5	A	T	6: 43,272,411	Q32L	probably damaging	Het
Chd6	T	C	2: 160,977,512	I1338V	probably benign	Het
Clic6	A	G	16: 92,498,479	E9G	possibly damaging	Het
Col11a1	T	A	3: 114,181,397		probably null	Het
Dcdc2b	T	A	4: 129,611,074	D88V	probably benign	Het
Dis3l	T	A	9: 64,310,329	K791N	possibly damaging	Het
Dmxl2	A	T	9: 54,404,015	Y1008*	probably null	Het
Dnah11	A	G	12: 118,192,390	V175A	probably benign	Het
Efl1	A	G	7: 82,658,055		probably null	Het
Fam117b	C	T	1: 59,949,119	T219I	probably benign	Het
Fgf21	T	A	7: 45,615,224	Q28L	probably benign	Het
Folh1	T	C	7: 86,744,430	Q391R	possibly damaging	Het
Gars	A	G	6: 55,077,697	D663G	probably damaging	Het
Lats2	A	G	14: 57,734,012	F69L	probably damaging	Het
Lrp2	C	T	2: 69,510,418	V1038M	probably damaging	Het
Map3k1	A	T	13: 111,756,243	V826E	probably damaging	Het
Mapkap1	T	A	2: 34,623,470	Y497*	probably null	Het
Mast3	T	C	8: 70,787,906	I296V	possibly damaging	Het
Mon1a	T	G	9: 107,901,615	L346R	probably damaging	Het
Mphosph8	T	C	14: 56,674,579	L353S	probably benign	Het
Muc5ac	T	C	7: 141,811,078	Y2634H	probably damaging	Het
Mylk	A	G	16: 34,815,435	T9A	probably benign	Het
Olfr1031	G	T	2: 85,992,386	D190Y	probably damaging	Het
Olfr1440	T	A	19: 12,394,899	V212D	probably damaging	Het
Olfr1484	T	A	19: 13,585,604	M57K	probably damaging	Het
Olfr418	T	C	1: 173,271,036	V287A	probably damaging	Het
Olfr543	C	A	7: 102,477,337	V178F	probably damaging	Het
Olfr761	A	C	17: 37,952,291	H244Q	probably damaging	Het
Olfr843	A	T	9: 19,248,870	H176Q	probably benign	Het
Pabpc2	A	C	18: 39,774,883	Q400H	possibly damaging	Het
Pigg	A	G	5: 108,342,097	Y856C	probably damaging	Het
Plekhn1	A	T	4: 156,222,408	V508E	probably benign	Het
Pom121l2	C	A	13: 21,982,275	H239N	possibly damaging	Het
Prdm2	A	G	4: 143,133,427	S1098P	probably benign	Het
Rnf212	A	G	5: 108,747,440	I41T	possibly damaging	Het
Rngtt	A	G	4: 33,320,517		probably null	Het
Rpn2	C	T	2: 157,321,827	T613M	probably damaging	Het
Scd4	G	T	19: 44,344,747	V304F	possibly damaging	Het
Sez6l	A	G	5: 112,426,764		probably benign	Het
Shroom3	A	G	5: 92,940,389	R158G	probably benign	Het
Stil	T	C	4: 115,041,482	L1103P	probably damaging	Het
Tanc2	T	C	11: 105,780,133		probably benign	Het
Tmc1	C	T	19: 20,832,454	D255N	probably benign	Het
Trank1	C	A	9: 111,390,712	D2172E	possibly damaging	Het
Tyro3	G	A	2: 119,813,200	R718H	probably damaging	Het
Vamp2	C	A	11: 69,090,657	F114L	probably benign	Het
Wdr66	T	A	5: 123,302,698	L1106*	probably null	Het

Other mutations in B3gnt6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01411:B3gnt6	APN	7	98194523	missense	probably damaging	1.00
R0631:B3gnt6	UTSW	7	98193692	missense	probably benign	0.02
R0849:B3gnt6	UTSW	7	98194743	missense	probably benign
R1015:B3gnt6	UTSW	7	98194595	missense	probably benign	0.00
R2034:B3gnt6	UTSW	7	98194018	missense	possibly damaging	0.92
R2915:B3gnt6	UTSW	7	98193593	missense	probably benign	0.00
R8984:B3gnt6	UTSW	7	98193614	missense	probably benign	0.00
R8996:B3gnt6	UTSW	7	98193592	missense	probably benign
Z1176:B3gnt6	UTSW	7	98193889	missense	probably benign	0.01

Posted On

2015-04-16