Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01010:Gal3st1'

53857

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gal3st1

Ensembl Gene

ENSMUSG00000049721

Gene Name

galactose-3-O-sulfotransferase 1

Synonyms

GalCer sulfotransferase, Gcst, Cst, galactosylceramide sulfotransferase, 3'-phosphoadenylylsulfate-galactosylceramide 3'-sulfotransferase

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01010

Quality Score

Status

Chromosome

Chromosomal Location

3983636-3999326 bp(+) (GRCm38)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to C at 3996914 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105608 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063004] [ENSMUST00000078757] [ENSMUST00000109981]

Predicted Effect

probably benign
Transcript: ENSMUST00000063004

SMART Domains

Protein: ENSMUSP00000058348
Gene: ENSMUSG00000049721

Domain	Start	End	E-Value	Type
Pfam:Gal-3-0_sulfotr	1	408	1.2e-184	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000078757

SMART Domains

Protein: ENSMUSP00000077815
Gene: ENSMUSG00000049721

Domain	Start	End	E-Value	Type
Pfam:Gal-3-0_sulfotr	1	408	1.2e-184	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109981

SMART Domains

Protein: ENSMUSP00000105608
Gene: ENSMUSG00000049721

Domain	Start	End	E-Value	Type
Pfam:Gal-3-0_sulfotr	1	408	1.2e-184	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sulfonation, an important step in the metabolism of many drugs, xenobiotics, hormones, and neurotransmitters, is catalyzed by sulfotransferases. This gene encodes galactosylceramide sulfotransferase, which catalyzes the sulfation of membrane glycolipids including the final step in the synthesis of sulfatide, a major lipid component of the myelin sheath. This gene exhibits elevated expression in ovarian epithelial carcinoma and the encoded enzyme exhibits elevated activity in renal cell carcinoma. Mutations in this gene may be associated with reduced insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit hindlimb weakness and progressive ataxia beginning at six weeks of age. Homozygous males exhibit sterility with a block in spermatogenesis prior to the first meiotic division. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	A	8: 72,445,215	S155R	probably damaging	Het
Acss3	G	T	10: 107,023,849		probably benign	Het
Ano4	G	A	10: 88,960,600	T680I	probably benign	Het
Drosha	C	T	15: 12,827,289		probably benign	Het
Ehd3	A	G	17: 73,827,489	D281G	probably damaging	Het
Exoc5	A	G	14: 49,037,755	L196P	probably damaging	Het
Gart	G	A	16: 91,643,092	R4*	probably null	Het
Gm21738	T	A	14: 19,417,361	T56S	probably benign	Het
Gm3573	T	A	14: 42,187,566	I141L	probably benign	Het
Gpr6	A	G	10: 41,071,151	M145T	probably benign	Het
Kcns3	T	C	12: 11,092,426	M91V	probably benign	Het
Marc2	T	G	1: 184,819,316	I308L	probably benign	Het
Mto1	A	G	9: 78,461,643	K529R	probably benign	Het
Naip2	A	T	13: 100,154,938	V1164D	probably damaging	Het
Olfr1053	A	T	2: 86,314,944	I114N	probably damaging	Het
Olfr695	T	C	7: 106,874,253		probably benign	Het
Plekha1	T	C	7: 130,902,254		probably benign	Het
Psg26	T	C	7: 18,478,330	S367G	possibly damaging	Het
Rps6kb1	T	C	11: 86,502,766	M513V	probably benign	Het
Slitrk3	C	T	3: 73,049,273	G722D	probably benign	Het
Sssca1	A	G	19: 5,731,265	S78P	probably damaging	Het
Stag1	A	G	9: 100,945,933	E1005G	probably benign	Het
Tgfbr2	A	T	9: 116,129,980	L122Q	possibly damaging	Het
Traf2	G	A	2: 25,520,438	R400*	probably null	Het
Trim33	C	T	3: 103,346,715	Q153*	probably null	Het
Zmynd15	T	C	11: 70,465,916	Y551H	probably damaging	Het

Other mutations in Gal3st1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Gal3st1	APN	11	3999070	utr 3 prime	probably benign
IGL01079:Gal3st1	APN	11	3998564	missense	probably damaging	1.00
IGL01306:Gal3st1	APN	11	3998405	missense	probably damaging	1.00
IGL01614:Gal3st1	APN	11	3998996	missense	probably damaging	1.00
IGL01990:Gal3st1	APN	11	3998741	missense	probably damaging	1.00
IGL02439:Gal3st1	APN	11	3998110	missense	possibly damaging	0.95
R0306:Gal3st1	UTSW	11	3998546	missense	probably damaging	1.00
R1075:Gal3st1	UTSW	11	3998509	missense	possibly damaging	0.80
R1171:Gal3st1	UTSW	11	3998931	missense	probably damaging	1.00
R1874:Gal3st1	UTSW	11	3998231	missense	probably damaging	1.00
R2230:Gal3st1	UTSW	11	3998282	missense	probably benign	0.31
R2231:Gal3st1	UTSW	11	3998282	missense	probably benign	0.31
R2232:Gal3st1	UTSW	11	3998282	missense	probably benign	0.31
R2985:Gal3st1	UTSW	11	3998618	missense	probably damaging	1.00
R3552:Gal3st1	UTSW	11	3998110	missense	possibly damaging	0.90
R6737:Gal3st1	UTSW	11	3998903	missense	probably benign	0.00
R7027:Gal3st1	UTSW	11	3999002	missense	probably damaging	0.96
R7106:Gal3st1	UTSW	11	3998509	missense	probably damaging	1.00
R7288:Gal3st1	UTSW	11	3998609	missense	probably damaging	1.00
R7288:Gal3st1	UTSW	11	3998651	missense	probably damaging	0.98
R7290:Gal3st1	UTSW	11	3998093	missense	possibly damaging	0.70
R7438:Gal3st1	UTSW	11	3998227	missense	probably benign	0.00
R7934:Gal3st1	UTSW	11	3998405	missense	probably damaging	1.00
RF020:Gal3st1	UTSW	11	3998153	missense	possibly damaging	0.75
Z1088:Gal3st1	UTSW	11	3997984	missense	probably benign	0.00

Posted On

2013-06-28