Mutagenetix > Incidental Mutation

Incidental Mutation 'RF020:Gal3st1'

603824

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF020 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3983636-3999326 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3998153 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 120 (Y120C)

Ref Sequence

ENSEMBL: ENSMUSP00000058348 (fasta)

Gene Model

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

AlphaFold

Q9JHE4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063004
AA Change: Y120C

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000058348
Gene: ENSMUSG00000049721
AA Change: Y120C

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078757
AA Change: Y120C

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000077815
Gene: ENSMUSG00000049721
AA Change: Y120C

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109981
AA Change: Y120C

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105608
Gene: ENSMUSG00000049721
AA Change: Y120C

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,533,657 (GRCm38)	K1270E	possibly damaging	Het
Adgrb2	T	C	4: 130,010,084 (GRCm38)	S668P	probably damaging	Het
Ahdc1	T	G	4: 133,064,277 (GRCm38)	L943R	possibly damaging	Het
Ank2	T	C	3: 126,945,476 (GRCm38)	K2253R	unknown	Het
Arhgap23	T	C	11: 97,463,561 (GRCm38)	S767P	probably damaging	Het
Arhgef12	A	G	9: 42,989,989 (GRCm38)	I839T	possibly damaging	Het
Begain	CGCCGC	CGCCGCGGCCGC	12: 109,033,424 (GRCm38)		probably benign	Het
Btbd19	A	T	4: 117,122,275 (GRCm38)	C116S	probably damaging	Het
Cbr1	C	T	16: 93,610,179 (GRCm38)	A261V	probably benign	Het
Ccdc137	A	G	11: 120,458,196 (GRCm38)	R18G	probably benign	Het
Cdsn	AG	AGACAGGAAGTAGTAGCTCTCAG	17: 35,554,979 (GRCm38)		probably benign	Het
Celsr3	C	T	9: 108,849,057 (GRCm38)	R3162C	probably benign	Het
Cep350	A	T	1: 155,915,478 (GRCm38)	V1300E	probably benign	Het
Cluh	G	GCCAGAT	11: 74,669,538 (GRCm38)		probably benign	Het
Cmya5	G	T	13: 93,069,291 (GRCm38)	Q3357K	possibly damaging	Het
Col6a2	T	G	10: 76,606,209 (GRCm38)		probably null	Het
Cyp2j9	T	A	4: 96,577,652 (GRCm38)	T315S	probably damaging	Het
Cyp3a13	CATTATT	CATT	5: 137,894,263 (GRCm38)		probably null	Het
Dnah6	T	A	6: 73,118,057 (GRCm38)	Y2181F	probably benign	Het
Dnah7b	A	G	1: 46,373,261 (GRCm38)	D4010G	possibly damaging	Het
E4f1	CCG	CCGACG	17: 24,455,195 (GRCm38)		probably benign	Het
Ep300	A	T	15: 81,586,571 (GRCm38)		probably benign	Het
Fam234a	A	G	17: 26,218,751 (GRCm38)	V90A	probably benign	Het
Fam71e1	GGA	GGAAGGGTGGATCCTGGATACCTGGGTCTGAGGGAAGA	7: 44,500,535 (GRCm38)		probably null	Het
Gab3	TCT	TCTGCT	X: 75,000,017 (GRCm38)		probably benign	Het
Gm5475	GTGGAAGGAAAGGT	G	15: 100,427,149 (GRCm38)		probably null	Het
Gm6665	T	TC	18: 31,820,377 (GRCm38)		probably null	Het
Hdlbp	T	C	1: 93,440,734 (GRCm38)	T8A	probably benign	Het
Hnrnpa2b1	T	A	6: 51,466,694 (GRCm38)	K92N	probably damaging	Het
Hsdl2	GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	4: 59,610,640 (GRCm38)		probably benign	Het
Klhl10	C	G	11: 100,442,070 (GRCm38)	Q14E	probably benign	Het
Klra2	GAAAGAAATCCA	GAAAGAAATCCAAAGAAATCCA	6: 131,221,838 (GRCm38)		probably null	Het
Kmt2b	CC	CCTCCTGC	7: 30,586,382 (GRCm38)		probably benign	Het
Krt2	A	G	15: 101,817,968 (GRCm38)	I45T	unknown	Het
Ksr2	T	C	5: 117,555,218 (GRCm38)	S244P	probably benign	Het
Lama5	A	T	2: 180,196,178 (GRCm38)	M915K	probably benign	Het
Lrp1b	A	C	2: 41,770,846 (GRCm38)	H197Q		Het
Lrrc1	T	C	9: 77,452,631 (GRCm38)	E293G	probably damaging	Het
Med12l	AACA	AACAACA	3: 59,275,958 (GRCm38)		probably benign	Het
Mgam	T	A	6: 40,685,309 (GRCm38)	Y1179N	probably damaging	Het
Mgat4c	A	G	10: 102,389,067 (GRCm38)	I381V	probably benign	Het
Mrgprx1	A	AGAC	7: 48,021,511 (GRCm38)		probably benign	Het
Myc	A	T	15: 61,985,823 (GRCm38)		probably benign	Het
Nipbl	A	G	15: 8,358,934 (GRCm38)	S401P	probably damaging	Het
Nlrp9c	A	T	7: 26,385,224 (GRCm38)	I310N	probably benign	Het
Nwd2	C	A	5: 63,805,723 (GRCm38)	Y883*	probably null	Het
Oas1e	T	A	5: 120,794,318 (GRCm38)	T87S	possibly damaging	Het
Olfr586	A	T	7: 103,121,891 (GRCm38)	C294S	probably benign	Het
Olfr653	A	G	7: 104,580,290 (GRCm38)	M215V	probably benign	Het
Olfr885	G	A	9: 38,061,324 (GRCm38)	M1I	probably null	Het
Olfr964-ps1	GA	GATACA	9: 39,686,753 (GRCm38)		probably null	Het
Pappa	T	G	4: 65,205,045 (GRCm38)	S872R	possibly damaging	Het
Parp4	T	C	14: 56,647,349 (GRCm38)	L1295P	unknown	Het
Pcdh15	A	T	10: 74,185,410 (GRCm38)	Y152F	probably damaging	Het
Pdk1	A	T	2: 71,883,896 (GRCm38)	I217L	possibly damaging	Het
Phldb1	A	C	9: 44,697,946 (GRCm38)	C450W	probably damaging	Het
Pnmal1	C	CCATGATGCACCTGCTTCAACATCA	7: 16,961,451 (GRCm38)		probably benign	Het
Prl2c5	G	A	13: 13,185,912 (GRCm38)	G55S	probably benign	Het
Psme2b	A	T	11: 48,945,570 (GRCm38)	H183Q	probably damaging	Het
Ptms	CCTCCTC	CCTCCTCCTC	6: 124,914,449 (GRCm38)		probably benign	Het
Rln3	T	C	8: 84,043,302 (GRCm38)	T73A	probably benign	Het
Rprd1a	T	A	18: 24,530,005 (GRCm38)	Q21L	probably damaging	Het
Sept3	A	T	15: 82,284,461 (GRCm38)	D155V	probably damaging	Het
Sh3rf3	T	A	10: 58,813,768 (GRCm38)	V65E	probably damaging	Het
Shank3	A	G	15: 89,500,390 (GRCm38)	N155S	probably benign	Het
Shox2	G	T	3: 66,973,813 (GRCm38)	P278Q	probably damaging	Het
Slc1a1	T	C	19: 28,879,155 (GRCm38)		probably null	Het
Slc39a10	A	T	1: 46,810,015 (GRCm38)	F814I	probably damaging	Het
Slc5a1	T	C	5: 33,133,429 (GRCm38)	I119T	probably damaging	Het
Slc6a13	T	C	6: 121,324,351 (GRCm38)		probably null	Het
Spta1	T	A	1: 174,217,903 (GRCm38)	F1542L	probably damaging	Het
Spta1	A	G	1: 174,213,444 (GRCm38)	D1270G	probably benign	Het
Tacc3	T	A	5: 33,661,224 (GRCm38)	M1K	probably null	Het
Tax1bp1	T	C	6: 52,721,354 (GRCm38)	V17A	probably damaging	Het
Thegl	CAGCGATCCTCCCCAGTCCCGCAAGGC	CAGCGATCCTCCCCAGTCCCGCAAGGCGAGCGATCCTCCCCAGTCCCGCAAGGC	5: 77,016,400 (GRCm38)		probably benign	Het
Tmem156	T	A	5: 65,091,547 (GRCm38)	E3D	probably benign	Het
Tmem209	T	A	6: 30,487,418 (GRCm38)	M530L	probably benign	Het
Trpc2	A	G	7: 102,096,226 (GRCm38)	D883G	unknown	Het
Tsen34	GGAGCCAAAAT	G	7: 3,695,796 (GRCm38)		probably null	Het
Uhrf2	T	C	19: 30,086,391 (GRCm38)	Y585H	probably damaging	Het
Vmn1r26	T	A	6: 58,008,720 (GRCm38)	K161N	probably benign	Het
Vmn1r29	A	G	6: 58,307,543 (GRCm38)	S83G	probably benign	Het
Vps13b	G	T	15: 35,925,406 (GRCm38)	W3829L	probably null	Het
Vwce	G	A	19: 10,653,085 (GRCm38)	G503R	probably damaging	Het
Zc3h11a	T	C	1: 133,626,997 (GRCm38)	E415G	possibly damaging	Het
Zc3h14	T	A	12: 98,780,282 (GRCm38)		probably null	Het
Zfp119b	A	T	17: 55,939,499 (GRCm38)	M229K	probably benign	Het
Zfp384	GGCCCAGGC	GGCCCAGGCCCACGCCCAGGC	6: 125,036,488 (GRCm38)		probably benign	Het
Zfp384	CCAAGCTCAAGC	CCAAGC	6: 125,036,455 (GRCm38)		probably benign	Het
Zyx	T	A	6: 42,357,396 (GRCm38)	L518Q	probably damaging	Het

Other mutations in Gal3st1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Gal3st1	APN	11	3,999,070 (GRCm38)	utr 3 prime	probably benign
IGL01010:Gal3st1	APN	11	3,996,914 (GRCm38)	utr 5 prime	probably benign
IGL01079:Gal3st1	APN	11	3,998,564 (GRCm38)	missense	probably damaging	1.00
IGL01306:Gal3st1	APN	11	3,998,405 (GRCm38)	missense	probably damaging	1.00
IGL01614:Gal3st1	APN	11	3,998,996 (GRCm38)	missense	probably damaging	1.00
IGL01990:Gal3st1	APN	11	3,998,741 (GRCm38)	missense	probably damaging	1.00
IGL02439:Gal3st1	APN	11	3,998,110 (GRCm38)	missense	possibly damaging	0.95
R0306:Gal3st1	UTSW	11	3,998,546 (GRCm38)	missense	probably damaging	1.00
R1075:Gal3st1	UTSW	11	3,998,509 (GRCm38)	missense	possibly damaging	0.80
R1171:Gal3st1	UTSW	11	3,998,931 (GRCm38)	missense	probably damaging	1.00
R1874:Gal3st1	UTSW	11	3,998,231 (GRCm38)	missense	probably damaging	1.00
R2230:Gal3st1	UTSW	11	3,998,282 (GRCm38)	missense	probably benign	0.31
R2231:Gal3st1	UTSW	11	3,998,282 (GRCm38)	missense	probably benign	0.31
R2232:Gal3st1	UTSW	11	3,998,282 (GRCm38)	missense	probably benign	0.31
R2985:Gal3st1	UTSW	11	3,998,618 (GRCm38)	missense	probably damaging	1.00
R3552:Gal3st1	UTSW	11	3,998,110 (GRCm38)	missense	possibly damaging	0.90
R6737:Gal3st1	UTSW	11	3,998,903 (GRCm38)	missense	probably benign	0.00
R7027:Gal3st1	UTSW	11	3,999,002 (GRCm38)	missense	probably damaging	0.96
R7106:Gal3st1	UTSW	11	3,998,509 (GRCm38)	missense	probably damaging	1.00
R7288:Gal3st1	UTSW	11	3,998,651 (GRCm38)	missense	probably damaging	0.98
R7288:Gal3st1	UTSW	11	3,998,609 (GRCm38)	missense	probably damaging	1.00
R7290:Gal3st1	UTSW	11	3,998,093 (GRCm38)	missense	possibly damaging	0.70
R7438:Gal3st1	UTSW	11	3,998,227 (GRCm38)	missense	probably benign	0.00
R7934:Gal3st1	UTSW	11	3,998,405 (GRCm38)	missense	probably damaging	1.00
R9046:Gal3st1	UTSW	11	3,998,278 (GRCm38)	missense	probably benign	0.05
R9475:Gal3st1	UTSW	11	3,998,660 (GRCm38)	missense	probably damaging	1.00
Z1088:Gal3st1	UTSW	11	3,997,984 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATGGTACTGTCACCCGCAAC -3'
(R):5'- CCACGGATCCAAAGTAGTGG -3'

Sequencing Primer
(F):5'- TATTCCCAATGAGCCAGTGGC -3'
(R):5'- TCCAAAGTAGTGGAAGGAAGACTC -3'

Posted On

2019-12-04