Mutagenetix > Incidental Mutation

Incidental Mutation 'R7027:Gal3st1'

546062

Institutional Source

Beutler Lab

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7027 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3983636-3999326 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3999002 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 403 (D403G)

Ref Sequence

ENSEMBL: ENSMUSP00000105608 (fasta)

Gene Model

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

AlphaFold

Q9JHE4

Predicted Effect

probably damaging
Transcript: ENSMUST00000063004
AA Change: D403G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000058348
Gene: ENSMUSG00000049721
AA Change: D403G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000078757
AA Change: D403G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000077815
Gene: ENSMUSG00000049721
AA Change: D403G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109981
AA Change: D403G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105608
Gene: ENSMUSG00000049721
AA Change: D403G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (85/87)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833423E24Rik	A	G	2: 85,485,527	Y440H	probably damaging	Het
Acoxl	A	T	2: 128,010,083	M102L	probably benign	Het
Adcy10	A	G	1: 165,518,246	E288G	probably damaging	Het
Agap1	A	G	1: 89,888,722	H748R	probably benign	Het
Ahsg	T	C	16: 22,892,257	L48P	probably damaging	Het
Ankrd27	A	G	7: 35,612,526	T394A	probably benign	Het
Apc	T	G	18: 34,312,076	V657G	probably damaging	Het
Arl2	T	C	19: 6,141,089	T5A	probably benign	Het
B020011L13Rik	A	G	1: 117,801,450	Y229C	probably benign	Het
B3gnt5	T	A	16: 19,769,990	S320T	probably damaging	Het
Bach1	G	A	16: 87,719,291	R240Q	probably benign	Het
BC107364	T	G	3: 96,440,741	R77S	unknown	Het
Brox	G	A	1: 183,284,186	P206L	possibly damaging	Het
Ccrl2	T	C	9: 111,055,885	K182E	probably benign	Het
Cd19	A	G	7: 126,410,499	V465A	possibly damaging	Het
Chrdl2	A	T	7: 100,022,033	Q126H	probably damaging	Het
Cnbd1	G	A	4: 18,862,063	P376S	probably benign	Het
Cobll1	A	G	2: 65,089,503	S1194P	probably benign	Het
Col6a4	T	C	9: 106,067,014	Y1087C	probably damaging	Het
Col9a2	G	A	4: 121,044,019		probably null	Het
Cyp4v3	A	G	8: 45,310,252	S341P	possibly damaging	Het
Dnah7a	T	A	1: 53,631,506	Y529F	probably benign	Het
Eif3b	C	T	5: 140,425,288	R165W	probably damaging	Het
Erlec1	C	A	11: 30,950,790	C126F	probably damaging	Het
Fat2	T	C	11: 55,269,433	T3285A	probably benign	Het
Fat2	G	A	11: 55,281,851	R2679*	probably null	Het
Fbxo31	T	C	8: 121,578,485	T91A	probably damaging	Het
Fkbp5	A	G	17: 28,412,063	Y243H	probably damaging	Het
Flcn	C	T	11: 59,795,806	V374M	probably damaging	Het
Fndc5	A	G	4: 129,139,523	M128V	probably benign	Het
Garem1	T	C	18: 21,129,994	N588D	probably benign	Het
Gas1	T	C	13: 60,176,233	T196A	probably damaging	Het
Gcn1l1	T	C	5: 115,616,546		probably null	Het
Gprc5d	T	G	6: 135,116,648	Q87P	probably damaging	Het
Grm1	A	G	10: 10,719,595	L763P	probably damaging	Het
Hivep2	G	T	10: 14,149,577	K2378N	probably damaging	Het
Hivep2	G	T	10: 14,149,578	D2379Y	probably damaging	Het
Itgad	A	G	7: 128,182,989	Y199C	probably damaging	Het
Itm2c	A	G	1: 85,906,485	I174V	probably benign	Het
Khdrbs2	A	G	1: 32,414,916	S128G	probably benign	Het
Map3k9	T	C	12: 81,730,624	T528A	probably benign	Het
Mmp11	G	A	10: 75,932,396		probably benign	Het
Mycbpap	T	A	11: 94,514,614	I30F	probably damaging	Het
Nfya	T	C	17: 48,389,312	T335A	probably benign	Het
Npat	T	A	9: 53,569,916	S1008T	possibly damaging	Het
Olfr1145	A	G	2: 87,810,716	T299A	possibly damaging	Het
Olfr121	G	A	17: 37,752,409	C185Y	probably damaging	Het
Olfr494	A	T	7: 108,368,350	M287L	probably damaging	Het
Olfr818	C	T	10: 129,945,172	A297T	possibly damaging	Het
Osbpl10	T	C	9: 115,223,698	V613A	probably damaging	Het
Pcdhga8	T	C	18: 37,727,111	W407R	probably benign	Het
Pcdhgb4	A	G	18: 37,721,362	D270G	probably damaging	Het
Pde2a	A	C	7: 101,511,597	E918D	probably damaging	Het
Plekhg5	A	G	4: 152,113,974	D873G	probably benign	Het
Pno1	A	T	11: 17,208,880	S173T	possibly damaging	Het
Ppfia3	A	G	7: 45,354,736	I494T	possibly damaging	Het
Prkrip1	C	A	5: 136,181,413		probably benign	Het
Psma5	A	G	3: 108,265,168	I67V	probably benign	Het
Reep6	G	A	10: 80,333,965		probably null	Het
Rtl1	CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC	CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC	12: 109,591,414		probably benign	Het
Scyl2	C	G	10: 89,645,461		probably null	Het
Sdk1	T	A	5: 142,096,726		probably null	Het
Senp5	C	A	16: 31,989,295	K380N	probably benign	Het
Slc22a14	A	T	9: 119,231,215		probably null	Het
Slc26a5	T	A	5: 21,816,974	T485S	possibly damaging	Het
Slc44a5	T	C	3: 154,253,719	I349T	probably benign	Het
Smarca5	T	C	8: 80,736,726	E71G	probably benign	Het
Smok2a	A	T	17: 13,225,779	H81L	probably damaging	Het
Snrnp200	A	G	2: 127,217,272	D388G	probably benign	Het
Tank	T	C	2: 61,653,422	V404A	probably benign	Het
Tek	A	G	4: 94,865,510	D1063G	probably damaging	Het
Tfap2a	C	T	13: 40,733,674	C16Y	probably benign	Het
Tmc1	A	G	19: 20,940,903		probably null	Het
Tnc	A	G	4: 63,984,589	F1484L	probably benign	Het
Tnfsf13	T	A	11: 69,685,132		probably null	Het
Tnrc6c	T	A	11: 117,733,618	S919T	probably damaging	Het
Trim17	C	A	11: 58,968,616	Q219K	probably benign	Het
Trim5	T	A	7: 104,265,668	H389L	probably benign	Het
Trio	T	A	15: 27,805,654	M583L	possibly damaging	Het
Ttll10	A	T	4: 156,035,801	H389Q	possibly damaging	Het
Usp24	T	C	4: 106,362,244	S546P	probably benign	Het
Vmn1r19	T	A	6: 57,404,490	Y9*	probably null	Het
Vmn2r50	T	A	7: 10,047,612	D402V	probably damaging	Het
Vmn2r93	C	A	17: 18,313,286	A484E	probably benign	Het
Vps13a	T	C	19: 16,664,664	T2200A	probably benign	Het
Wdr36	T	A	18: 32,841,905	H103Q	probably benign	Het
Zfp534	G	A	4: 147,675,210	T334I	possibly damaging	Het
Zfp804b	C	T	5: 6,770,372	S897N	probably benign	Het

Other mutations in Gal3st1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Gal3st1	APN	11	3999070	utr 3 prime	probably benign
IGL01010:Gal3st1	APN	11	3996914	utr 5 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
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
R9046:Gal3st1	UTSW	11	3998278	missense	probably benign	0.05
R9475:Gal3st1	UTSW	11	3998660	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

Predicted Primers

PCR Primer
(F):5'- CATGCGCCACATCTGCATAG -3'
(R):5'- TAGTTAAATACCTCTCCGTTAGGC -3'

Sequencing Primer
(F):5'- ATCTGCATAGATGGCGGC -3'
(R):5'- TCCTGCAGAGAGACTAGTCC -3'

Posted On

2019-05-13