Mutagenetix > Incidental Mutation

Incidental Mutation 'R7106:Gal3st1'

551189

Institutional Source

Beutler Lab

Gene Symbol

Gal3st1

Ensembl Gene

ENSMUSG00000049721

Gene Name

galactose-3-O-sulfotransferase 1

Synonyms

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

MMRRC Submission

045198-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7106 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3933636-3949326 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3948509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 239 (I239F)

Ref Sequence

ENSEMBL: ENSMUSP00000058348 (fasta)

Gene Model

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

AlphaFold

Q9JHE4

Predicted Effect

probably damaging
Transcript: ENSMUST00000063004
AA Change: I239F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000058348
Gene: ENSMUSG00000049721
AA Change: I239F

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: I239F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000077815
Gene: ENSMUSG00000049721
AA Change: I239F

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: I239F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105608
Gene: ENSMUSG00000049721
AA Change: I239F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (62/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldob	T	C	4: 49,541,258 (GRCm39)	Y138C	probably damaging	Het
Ano7	A	C	1: 93,302,705 (GRCm39)		probably null	Het
Arvcf	T	A	16: 18,217,799 (GRCm39)	V497E	probably damaging	Het
Atad2	A	G	15: 57,980,162 (GRCm39)		probably null	Het
Brinp1	C	T	4: 68,747,615 (GRCm39)	A163T	probably benign	Het
Catsperd	C	A	17: 56,965,070 (GRCm39)		probably null	Het
Ccm2l	A	G	2: 152,912,571 (GRCm39)	H70R	possibly damaging	Het
Cgnl1	G	A	9: 71,633,015 (GRCm39)	T112I	probably benign	Het
Chid1	T	C	7: 141,102,573 (GRCm39)	H220R	probably benign	Het
Clca3a1	A	G	3: 144,733,190 (GRCm39)	V106A	probably damaging	Het
Cldn23	A	C	8: 36,293,069 (GRCm39)	S140A	probably benign	Het
Dennd2c	T	C	3: 103,038,893 (GRCm39)	S14P	possibly damaging	Het
Det1	T	C	7: 78,493,212 (GRCm39)	D264G	probably damaging	Het
Dmwd	T	C	7: 18,814,454 (GRCm39)	V368A	probably damaging	Het
Dnah11	T	C	12: 117,924,884 (GRCm39)	K3362E	probably benign	Het
Dnah8	T	C	17: 30,960,152 (GRCm39)	F2208L	probably damaging	Het
Dnaja3	T	C	16: 4,523,798 (GRCm39)	I477T	probably benign	Het
Dnmt3a	A	G	12: 3,947,591 (GRCm39)	K482E	probably damaging	Het
Dock7	A	G	4: 98,855,563 (GRCm39)	I1493T	unknown	Het
Ehbp1l1	A	G	19: 5,768,765 (GRCm39)	V846A	probably benign	Het
Fbxl4	T	A	4: 22,427,140 (GRCm39)		probably null	Het
Fgd2	T	A	17: 29,595,944 (GRCm39)	L534*	probably null	Het
Fgfr3	T	C	5: 33,888,758 (GRCm39)	V349A	probably damaging	Het
Gpatch3	C	A	4: 133,305,514 (GRCm39)	H250N	probably benign	Het
Guca1b	A	T	17: 47,702,236 (GRCm39)	K230*	probably null	Het
Itga3	G	T	11: 94,946,699 (GRCm39)	L737I	probably benign	Het
Kmt5c	A	G	7: 4,745,705 (GRCm39)	K122E	probably damaging	Het
Kpna4	G	A	3: 68,986,797 (GRCm39)	Q531*	probably null	Het
Lctl	A	G	9: 64,040,119 (GRCm39)	E410G	probably benign	Het
Lhx1	T	C	11: 84,412,903 (GRCm39)	N128D	probably benign	Het
Lifr	A	G	15: 7,202,405 (GRCm39)	N349D	probably benign	Het
Map2	G	A	1: 66,449,903 (GRCm39)	A209T	possibly damaging	Het
Mif4gd	G	A	11: 115,502,737 (GRCm39)	A25V	probably damaging	Het
Mug2	T	C	6: 122,059,680 (GRCm39)	S1353P	probably damaging	Het
Myh9	A	G	15: 77,659,321 (GRCm39)	C931R	probably benign	Het
Nelfe	T	G	17: 35,071,395 (GRCm39)		probably null	Het
Nrf1	A	G	6: 30,102,183 (GRCm39)	S161G	probably benign	Het
Pik3c2a	G	A	7: 116,017,368 (GRCm39)	Q130*	probably null	Het
Prex2	T	A	1: 11,207,017 (GRCm39)	M525K	probably benign	Het
Psme2	A	G	14: 55,825,694 (GRCm39)	S165P	probably benign	Het
Rapgef2	A	G	3: 78,973,915 (GRCm39)	F1477S	probably benign	Het
Rasef	A	T	4: 73,645,864 (GRCm39)	C502S	probably damaging	Het
Rpap2	T	A	5: 107,780,988 (GRCm39)	L565*	probably null	Het
Sav1	A	G	12: 70,031,390 (GRCm39)	I44T	probably damaging	Het
Selp	T	A	1: 163,953,991 (GRCm39)	I97N	probably benign	Het
Serpina1d	A	G	12: 103,731,980 (GRCm39)	F293S	probably benign	Het
Sin3b	T	C	8: 73,450,765 (GRCm39)	F65L	possibly damaging	Het
Sorcs3	G	C	19: 48,694,402 (GRCm39)	G559R	probably damaging	Het
Susd2	A	T	10: 75,473,887 (GRCm39)	D689E	probably damaging	Het
Tas1r2	A	T	4: 139,389,360 (GRCm39)	M448L	probably benign	Het
Tbc1d30	A	T	10: 121,137,897 (GRCm39)	I181N	possibly damaging	Het
Tcea3	A	G	4: 135,998,679 (GRCm39)	T318A	probably damaging	Het
Tomm70a	T	C	16: 56,961,121 (GRCm39)	V358A	probably damaging	Het
Tpp1	A	C	7: 105,399,118 (GRCm39)	S153A	possibly damaging	Het
Trip13	C	T	13: 74,062,651 (GRCm39)	V387I	probably benign	Het
Ttn	T	C	2: 76,627,832 (GRCm39)	I14704V	probably benign	Het
Uimc1	C	A	13: 55,198,628 (GRCm39)	C516F	possibly damaging	Het
Vit	A	G	17: 78,894,228 (GRCm39)	N210S	probably benign	Het
Vmn1r22	G	T	6: 57,877,296 (GRCm39)	T227K	probably damaging	Het
Vmn2r5	A	G	3: 64,399,104 (GRCm39)	I625T	probably benign	Het
Zfp27	AATCCGCTTGTGCA	AA	7: 29,594,446 (GRCm39)		probably benign	Het
Zfp384	T	C	6: 125,001,222 (GRCm39)	L98P	probably benign	Het
Zfp809	G	T	9: 22,147,520 (GRCm39)	K51N	probably benign	Het

Other mutations in Gal3st1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Gal3st1	APN	11	3,949,070 (GRCm39)	utr 3 prime	probably benign
IGL01010:Gal3st1	APN	11	3,946,914 (GRCm39)	utr 5 prime	probably benign
IGL01079:Gal3st1	APN	11	3,948,564 (GRCm39)	missense	probably damaging	1.00
IGL01306:Gal3st1	APN	11	3,948,405 (GRCm39)	missense	probably damaging	1.00
IGL01614:Gal3st1	APN	11	3,948,996 (GRCm39)	missense	probably damaging	1.00
IGL01990:Gal3st1	APN	11	3,948,741 (GRCm39)	missense	probably damaging	1.00
IGL02439:Gal3st1	APN	11	3,948,110 (GRCm39)	missense	possibly damaging	0.95
R0306:Gal3st1	UTSW	11	3,948,546 (GRCm39)	missense	probably damaging	1.00
R1075:Gal3st1	UTSW	11	3,948,509 (GRCm39)	missense	possibly damaging	0.80
R1171:Gal3st1	UTSW	11	3,948,931 (GRCm39)	missense	probably damaging	1.00
R1874:Gal3st1	UTSW	11	3,948,231 (GRCm39)	missense	probably damaging	1.00
R2230:Gal3st1	UTSW	11	3,948,282 (GRCm39)	missense	probably benign	0.31
R2231:Gal3st1	UTSW	11	3,948,282 (GRCm39)	missense	probably benign	0.31
R2232:Gal3st1	UTSW	11	3,948,282 (GRCm39)	missense	probably benign	0.31
R2985:Gal3st1	UTSW	11	3,948,618 (GRCm39)	missense	probably damaging	1.00
R3552:Gal3st1	UTSW	11	3,948,110 (GRCm39)	missense	possibly damaging	0.90
R6737:Gal3st1	UTSW	11	3,948,903 (GRCm39)	missense	probably benign	0.00
R7027:Gal3st1	UTSW	11	3,949,002 (GRCm39)	missense	probably damaging	0.96
R7288:Gal3st1	UTSW	11	3,948,651 (GRCm39)	missense	probably damaging	0.98
R7288:Gal3st1	UTSW	11	3,948,609 (GRCm39)	missense	probably damaging	1.00
R7290:Gal3st1	UTSW	11	3,948,093 (GRCm39)	missense	possibly damaging	0.70
R7438:Gal3st1	UTSW	11	3,948,227 (GRCm39)	missense	probably benign	0.00
R7934:Gal3st1	UTSW	11	3,948,405 (GRCm39)	missense	probably damaging	1.00
R9046:Gal3st1	UTSW	11	3,948,278 (GRCm39)	missense	probably benign	0.05
R9475:Gal3st1	UTSW	11	3,948,660 (GRCm39)	missense	probably damaging	1.00
RF020:Gal3st1	UTSW	11	3,948,153 (GRCm39)	missense	possibly damaging	0.75
Z1088:Gal3st1	UTSW	11	3,947,984 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TACTTTGGATCCGTGGTGCC -3'
(R):5'- AAGCTGGCGTTGAAGTGAC -3'

Sequencing Primer
(F):5'- CGCTCACCTGGAAGCTGTC -3'
(R):5'- ACGTCCAGCAGGTTCCAG -3'

Posted On

2019-05-15