Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03244:B3gat3'

414351

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

B3gat3

Ensembl Gene

ENSMUSG00000071649

Gene Name

beta-1,3-glucuronyltransferase 3

Synonyms

GlcAT-I, 2810405M13Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03244

Quality Score

Status

Chromosome

Chromosomal Location

8897740-8904600 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8903215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 191 (Y191H)

Ref Sequence

ENSEMBL: ENSMUSP00000093962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096241] [ENSMUST00000096242] [ENSMUST00000096243] [ENSMUST00000224272]

AlphaFold

P58158

Predicted Effect

probably benign
Transcript: ENSMUST00000096241

SMART Domains

Protein: ENSMUSP00000093960
Gene: ENSMUSG00000071647

Domain	Start	End	E-Value	Type
coiled coil region	12	47	N/A	INTRINSIC
low complexity region	96	108	N/A	INTRINSIC
low complexity region	118	139	N/A	INTRINSIC
low complexity region	149	168	N/A	INTRINSIC
low complexity region	198	208	N/A	INTRINSIC
Pfam:HELP	215	286	5.3e-30	PFAM
WD40	295	344	6.34e-2	SMART
Blast:WD40	347	392	5e-22	BLAST
WD40	395	434	1.56e-1	SMART
WD40	450	487	2.64e2	SMART
WD40	504	543	3.33e-1	SMART
WD40	587	626	2.69e-5	SMART
WD40	670	709	1.7e-2	SMART
WD40	716	755	1.52e-4	SMART
WD40	829	869	1.29e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000096242

SMART Domains

Protein: ENSMUSP00000093961
Gene: ENSMUSG00000071648

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:Tetraspannin	17	291	1e-18	PFAM
low complexity region	331	346	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000096243
AA Change: Y191H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093962
Gene: ENSMUSG00000071649
AA Change: Y191H

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	58	75	N/A	INTRINSIC
Pfam:Glyco_transf_43	96	312	1.8e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224272

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 member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous mutants die prenatally before the 8-cell stage due to failed cytokinesis, and show reduction of the synthesis of chondroitin sulfate and heparan sulfate glycosaminoglycans. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Aoc1	T	C	6: 48,882,756 (GRCm39)	Y233H	possibly damaging	Het
Apaf1	A	T	10: 90,885,211 (GRCm39)		probably benign	Het
Asah2	T	C	19: 31,964,342 (GRCm39)	Y696C	probably damaging	Het
Atp8b3	A	T	10: 80,370,292 (GRCm39)	D112E	probably damaging	Het
Capns2	T	C	8: 93,628,738 (GRCm39)	I209T	probably damaging	Het
Ccnl2	T	C	4: 155,905,479 (GRCm39)	I303T	probably benign	Het
Cdk5rap2	A	T	4: 70,199,672 (GRCm39)	S817R	probably benign	Het
Cep57	A	T	9: 13,729,683 (GRCm39)	L36*	probably null	Het
Cers4	T	A	8: 4,566,878 (GRCm39)	V60E	probably damaging	Het
Ces2e	T	C	8: 105,655,451 (GRCm39)	Y125H	probably benign	Het
Cyp4f18	T	C	8: 72,742,489 (GRCm39)	E497G	probably benign	Het
Ddx24	A	T	12: 103,383,864 (GRCm39)	M575K	possibly damaging	Het
Dmxl2	A	T	9: 54,323,655 (GRCm39)	V1243E	probably damaging	Het
Elf2	A	T	3: 51,165,193 (GRCm39)	Y270*	probably null	Het
Ep400	A	G	5: 110,875,429 (GRCm39)	L844S	unknown	Het
F13a1	A	T	13: 37,172,870 (GRCm39)	I170N	possibly damaging	Het
Gm16506	T	A	14: 43,961,603 (GRCm39)		probably benign	Het
Grm4	A	G	17: 27,653,797 (GRCm39)	F463L	probably damaging	Het
H2-M10.2	A	T	17: 36,596,463 (GRCm39)	N127K	probably benign	Het
Lrrc49	T	C	9: 60,495,140 (GRCm39)	Y691C	probably damaging	Het
Mbip	A	C	12: 56,384,547 (GRCm39)		probably null	Het
Or9k2	T	A	10: 129,998,269 (GRCm39)	K309*	probably null	Het
Plod1	C	T	4: 148,007,580 (GRCm39)		probably null	Het
Primpol	A	G	8: 47,039,475 (GRCm39)	W382R	probably damaging	Het
Rufy2	A	G	10: 62,840,483 (GRCm39)	E418G	probably benign	Het
Samm50	T	C	15: 84,098,341 (GRCm39)	V460A	probably benign	Het
Senp2	T	C	16: 21,859,329 (GRCm39)	V460A	probably damaging	Het
Simc1	A	G	13: 54,698,442 (GRCm39)	H453R	probably benign	Het
Slc22a22	A	G	15: 57,112,948 (GRCm39)		probably benign	Het
Spag1	A	T	15: 36,234,529 (GRCm39)	D763V	probably benign	Het
Thsd7a	T	A	6: 12,504,167 (GRCm39)		probably benign	Het
Tppp	G	T	13: 74,169,535 (GRCm39)	V92F	possibly damaging	Het
Vmn1r32	G	A	6: 66,530,489 (GRCm39)	L96F	probably damaging	Het
Vmn2r53	C	A	7: 12,340,435 (GRCm39)	A13S	probably damaging	Het
Vmn2r75	G	A	7: 85,820,933 (GRCm39)		probably benign	Het
Zfp750	C	A	11: 121,404,513 (GRCm39)	G121*	probably null	Het

Other mutations in B3gat3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:B3gat3	APN	19	8,904,149 (GRCm39)	missense	probably benign	0.44
Bounce	UTSW	19	8,902,996 (GRCm39)	missense	possibly damaging	0.90
resilient	UTSW	19	8,903,102 (GRCm39)	missense	probably benign	0.16
spongy	UTSW	19	8,903,216 (GRCm39)	missense	probably damaging	1.00
R4658:B3gat3	UTSW	19	8,902,996 (GRCm39)	missense	possibly damaging	0.90
R7140:B3gat3	UTSW	19	8,903,216 (GRCm39)	missense	probably damaging	1.00
R7257:B3gat3	UTSW	19	8,903,102 (GRCm39)	missense	probably benign	0.16

Posted On

2016-08-02