Mutagenetix > Incidental Mutation

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

Synonyms

Core-3, Core3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

IGL02104

Quality Score

Status

Chromosome

Chromosomal Location

97841622-97848682 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 97843308 bp (GRCm39)

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]

AlphaFold

Q3USF0

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: 124,930,714 (GRCm39)		noncoding transcript	Het
Abcb5	T	A	12: 118,904,415 (GRCm39)	Q125L	probably damaging	Het
Acap3	G	A	4: 155,989,542 (GRCm39)	R662H	probably damaging	Het
Aox4	T	A	1: 58,275,816 (GRCm39)		probably benign	Het
Aqp6	T	C	15: 99,502,159 (GRCm39)	S285P	probably benign	Het
Arhgef5	A	T	6: 43,249,345 (GRCm39)	Q32L	probably damaging	Het
Cfap251	T	A	5: 123,440,761 (GRCm39)	L1106*	probably null	Het
Chd6	T	C	2: 160,819,432 (GRCm39)	I1338V	probably benign	Het
Clic6	A	G	16: 92,295,367 (GRCm39)	E9G	possibly damaging	Het
Col11a1	T	A	3: 113,975,046 (GRCm39)		probably null	Het
Dcdc2b	T	A	4: 129,504,867 (GRCm39)	D88V	probably benign	Het
Dis3l	T	A	9: 64,217,611 (GRCm39)	K791N	possibly damaging	Het
Dmxl2	A	T	9: 54,311,299 (GRCm39)	Y1008*	probably null	Het
Dnah11	A	G	12: 118,156,125 (GRCm39)	V175A	probably benign	Het
Efl1	A	G	7: 82,307,263 (GRCm39)		probably null	Het
Fam117b	C	T	1: 59,988,278 (GRCm39)	T219I	probably benign	Het
Fgf21	T	A	7: 45,264,648 (GRCm39)	Q28L	probably benign	Het
Folh1	T	C	7: 86,393,638 (GRCm39)	Q391R	possibly damaging	Het
Gars1	A	G	6: 55,054,682 (GRCm39)	D663G	probably damaging	Het
Lats2	A	G	14: 57,971,469 (GRCm39)	F69L	probably damaging	Het
Lrp2	C	T	2: 69,340,762 (GRCm39)	V1038M	probably damaging	Het
Map3k1	A	T	13: 111,892,777 (GRCm39)	V826E	probably damaging	Het
Mapkap1	T	A	2: 34,513,482 (GRCm39)	Y497*	probably null	Het
Mast3	T	C	8: 71,240,550 (GRCm39)	I296V	possibly damaging	Het
Mon1a	T	G	9: 107,778,814 (GRCm39)	L346R	probably damaging	Het
Mphosph8	T	C	14: 56,912,036 (GRCm39)	L353S	probably benign	Het
Muc5ac	T	C	7: 141,364,815 (GRCm39)	Y2634H	probably damaging	Het
Mylk	A	G	16: 34,635,805 (GRCm39)	T9A	probably benign	Het
Or10j2	T	C	1: 173,098,603 (GRCm39)	V287A	probably damaging	Het
Or14j8	A	C	17: 38,263,182 (GRCm39)	H244Q	probably damaging	Het
Or55b3	C	A	7: 102,126,544 (GRCm39)	V178F	probably damaging	Het
Or5an6	T	A	19: 12,372,263 (GRCm39)	V212D	probably damaging	Het
Or5b122	T	A	19: 13,562,968 (GRCm39)	M57K	probably damaging	Het
Or5m8	G	T	2: 85,822,730 (GRCm39)	D190Y	probably damaging	Het
Or7g25	A	T	9: 19,160,166 (GRCm39)	H176Q	probably benign	Het
Pabpc2	A	C	18: 39,907,936 (GRCm39)	Q400H	possibly damaging	Het
Pigg	A	G	5: 108,489,963 (GRCm39)	Y856C	probably damaging	Het
Plekhn1	A	T	4: 156,306,865 (GRCm39)	V508E	probably benign	Het
Pom121l2	C	A	13: 22,166,445 (GRCm39)	H239N	possibly damaging	Het
Prdm2	A	G	4: 142,859,997 (GRCm39)	S1098P	probably benign	Het
Rnf212	A	G	5: 108,895,306 (GRCm39)	I41T	possibly damaging	Het
Rngtt	A	G	4: 33,320,517 (GRCm39)		probably null	Het
Rpn2	C	T	2: 157,163,747 (GRCm39)	T613M	probably damaging	Het
Scd4	G	T	19: 44,333,186 (GRCm39)	V304F	possibly damaging	Het
Sez6l	A	G	5: 112,574,630 (GRCm39)		probably benign	Het
Shroom3	A	G	5: 93,088,248 (GRCm39)	R158G	probably benign	Het
Stil	T	C	4: 114,898,679 (GRCm39)	L1103P	probably damaging	Het
Tanc2	T	C	11: 105,670,959 (GRCm39)		probably benign	Het
Tmc1	C	T	19: 20,809,818 (GRCm39)	D255N	probably benign	Het
Trank1	C	A	9: 111,219,780 (GRCm39)	D2172E	possibly damaging	Het
Tyro3	G	A	2: 119,643,681 (GRCm39)	R718H	probably damaging	Het
Vamp2	C	A	11: 68,981,483 (GRCm39)	F114L	probably benign	Het

Other mutations in B3gnt6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01411:B3gnt6	APN	7	97,843,730 (GRCm39)	missense	probably damaging	1.00
R0631:B3gnt6	UTSW	7	97,842,899 (GRCm39)	missense	probably benign	0.02
R0849:B3gnt6	UTSW	7	97,843,950 (GRCm39)	missense	probably benign
R1015:B3gnt6	UTSW	7	97,843,802 (GRCm39)	missense	probably benign	0.00
R2034:B3gnt6	UTSW	7	97,843,225 (GRCm39)	missense	possibly damaging	0.92
R2915:B3gnt6	UTSW	7	97,842,800 (GRCm39)	missense	probably benign	0.00
R8984:B3gnt6	UTSW	7	97,842,821 (GRCm39)	missense	probably benign	0.00
R8996:B3gnt6	UTSW	7	97,842,799 (GRCm39)	missense	probably benign
R9100:B3gnt6	UTSW	7	97,843,958 (GRCm39)	start codon destroyed	not run
R9549:B3gnt6	UTSW	7	97,843,656 (GRCm39)	missense	possibly damaging	0.81
Z1176:B3gnt6	UTSW	7	97,843,096 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16