Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00786:B3gat3'

13318

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 #

IGL00786

Quality Score

Status

Chromosome

Chromosomal Location

8897740-8904600 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8904149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 320 (E320G)

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 benign
Transcript: ENSMUST00000096243
AA Change: E320G

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000093962
Gene: ENSMUSG00000071649
AA Change: E320G

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	T	C	2: 35,265,851 (GRCm39)	N242S	probably benign	Het
Akap9	C	A	5: 4,120,522 (GRCm39)	A3646E	probably damaging	Het
Akt1	C	A	12: 112,624,105 (GRCm39)	G233V	probably damaging	Het
Bltp3a	T	A	17: 28,098,266 (GRCm39)	I136N	probably damaging	Het
Bpifa5	G	A	2: 154,009,172 (GRCm39)	C238Y	probably damaging	Het
Camkmt	T	C	17: 85,403,919 (GRCm39)	V47A	probably damaging	Het
Ccnl2	C	T	4: 155,905,337 (GRCm39)	R284W	probably damaging	Het
Chl1	G	T	6: 103,652,106 (GRCm39)	V341F	probably damaging	Het
Cst3	A	T	2: 148,714,797 (GRCm39)	C93*	probably null	Het
Ctsh	T	C	9: 89,946,291 (GRCm39)	V119A	probably damaging	Het
Dmap1	C	T	4: 117,533,593 (GRCm39)	R225Q	possibly damaging	Het
Ehbp1	A	G	11: 22,050,460 (GRCm39)	S479P	possibly damaging	Het
Eml2	A	G	7: 18,936,507 (GRCm39)	Y528C	probably damaging	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
G6pc3	A	G	11: 102,083,931 (GRCm39)	M186V	probably benign	Het
Gpr37	A	G	6: 25,669,317 (GRCm39)	V509A	possibly damaging	Het
Heatr5b	G	T	17: 79,132,063 (GRCm39)	H347N	possibly damaging	Het
Idh1	A	G	1: 65,205,402 (GRCm39)	S188P	probably damaging	Het
Mphosph8	T	C	14: 56,910,001 (GRCm39)	V118A	probably benign	Het
Mthfsd	C	T	8: 121,831,207 (GRCm39)	R91Q	probably damaging	Het
Otor	G	A	2: 142,921,846 (GRCm39)	V86I	probably damaging	Het
Pdk2	T	A	11: 94,922,761 (GRCm39)	T140S	probably benign	Het
Pnliprp2	A	G	19: 58,748,929 (GRCm39)	N78S	probably benign	Het
Rimbp3	C	T	16: 17,029,552 (GRCm39)	T992M	probably damaging	Het
Sdad1	A	T	5: 92,451,632 (GRCm39)		probably null	Het
Sidt2	A	G	9: 45,861,101 (GRCm39)	S71P	possibly damaging	Het
Slc44a2	T	A	9: 21,257,231 (GRCm39)	V390E	probably damaging	Het
Tmem168	T	C	6: 13,602,674 (GRCm39)	I231V	probably benign	Het
Vim	T	C	2: 13,583,321 (GRCm39)		probably null	Het

Other mutations in B3gat3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03244:B3gat3	APN	19	8,903,215 (GRCm39)	missense	probably damaging	1.00
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

2012-12-06