Mutagenetix > Incidental Mutation

Incidental Mutation 'R4712:Chst10'

353293

Institutional Source

Beutler Lab

Gene Symbol

Chst10

Ensembl Gene

ENSMUSG00000026080

Gene Name

carbohydrate sulfotransferase 10

Synonyms

ST, Hnk-1st

MMRRC Submission

041981-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

R4712 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38902948-38937242 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38904922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 257 (Y257C)

Ref Sequence

ENSEMBL: ENSMUSP00000141295 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027249] [ENSMUST00000192948] [ENSMUST00000193441] [ENSMUST00000194361] [ENSMUST00000194657]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000027249
AA Change: Y261C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027249
Gene: ENSMUSG00000026080
AA Change: Y261C

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
Pfam:Sulfotransfer_2	129	367	7.1e-54	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000192948
AA Change: Y154C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141470
Gene: ENSMUSG00000026080
AA Change: Y154C

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_2	22	238	2.5e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193441

SMART Domains

Protein: ENSMUSP00000142028
Gene: ENSMUSG00000026080

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
Pfam:Sulfotransfer_2	129	196	2.1e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000194361
AA Change: Y257C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141295
Gene: ENSMUSG00000026080
AA Change: Y257C

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
Pfam:Sulfotransfer_2	125	363	1.3e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000194657

SMART Domains

Protein: ENSMUSP00000141481
Gene: ENSMUSG00000026080

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC

Meta Mutation Damage Score

0.9476

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein encoded by this gene transfers sulfate to the C-3 hydroxyl of terminal glucuronic acid of protein- and lipid-linked oligosaccharides. This protein was first identified as a sulfotransferase that acts on the human natural killer-1 (HNK-1) glycan; HNK-1 is a carbohydrate involved in neurodevelopment and synaptic plasticity.[provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous mutation of this gene results in altered synaptic transmission and long term potentiation. Mutant animals exhibit impaired spatial learning and long term memory deficits. Mice homozygous for a different knock-out allele exhibit reduced male and female fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	G	T	15: 83,111,810 (GRCm39)	N324K	probably damaging	Het
Ahcyl1	A	G	3: 107,574,547 (GRCm39)		probably benign	Het
Atrnl1	T	A	19: 57,641,382 (GRCm39)	N343K	probably benign	Het
Batf2	C	A	19: 6,221,357 (GRCm39)	Q56K	probably benign	Het
Cfh	A	T	1: 140,036,274 (GRCm39)	V691D	probably damaging	Het
Dlg5	A	T	14: 24,228,051 (GRCm39)	L290Q	possibly damaging	Het
Dnah2	T	A	11: 69,407,416 (GRCm39)	T456S	possibly damaging	Het
Dnah6	T	C	6: 73,001,995 (GRCm39)		probably null	Het
Efhb	T	C	17: 53,758,697 (GRCm39)	K313R	probably damaging	Het
Eprs1	T	A	1: 185,160,305 (GRCm39)	N1500K	probably benign	Het
Fbn1	T	C	2: 125,183,236 (GRCm39)	T1748A	probably benign	Het
Gfra2	T	A	14: 71,163,377 (GRCm39)	L87H	probably damaging	Het
Gfral	T	A	9: 76,100,727 (GRCm39)	Y237F	possibly damaging	Het
Gpr137b	T	C	13: 13,533,974 (GRCm39)	N361D	probably benign	Het
Gsdmc	G	T	15: 63,651,386 (GRCm39)	T272N	probably benign	Het
Hspe1	T	A	1: 55,128,269 (GRCm39)	S21R	probably benign	Het
Kctd16	G	T	18: 40,390,233 (GRCm39)		probably benign	Het
Kif21a	A	T	15: 90,868,958 (GRCm39)	I483N	probably damaging	Het
Kif4-ps	T	C	12: 101,112,534 (GRCm39)		noncoding transcript	Het
Lpp	T	C	16: 24,580,407 (GRCm39)	V166A	possibly damaging	Het
Lrp2	A	C	2: 69,336,895 (GRCm39)	D1292E	probably damaging	Het
Manba	T	C	3: 135,250,575 (GRCm39)	Y401H	probably damaging	Het
Msh2	T	G	17: 87,985,813 (GRCm39)		probably benign	Het
Myef2	A	T	2: 124,930,757 (GRCm39)		probably benign	Het
Ncor1	T	A	11: 62,235,660 (GRCm39)	Q598L	probably damaging	Het
Obox3	A	G	7: 15,360,764 (GRCm39)	V125A	probably benign	Het
Or1n1	A	T	2: 36,750,381 (GRCm39)		probably null	Het
Or2b4	T	A	17: 38,116,591 (GRCm39)	L185*	probably null	Het
Or9k7	G	A	10: 130,046,291 (GRCm39)	T236I	possibly damaging	Het
Pcdh9	C	A	14: 94,126,067 (GRCm39)	L34F	probably damaging	Het
Pcdha3	A	T	18: 37,079,560 (GRCm39)	I101F	probably damaging	Het
Pced1b	A	G	15: 97,282,675 (GRCm39)	E238G	probably benign	Het
Pla2r1	A	T	2: 60,258,994 (GRCm39)	N1131K	probably damaging	Het
Prmt1	A	T	7: 44,631,060 (GRCm39)	S99R	probably damaging	Het
Qng1	G	A	13: 58,529,617 (GRCm39)	R332C	probably benign	Het
Rbp3	T	C	14: 33,682,615 (GRCm39)	S1116P	probably damaging	Het
Rhobtb2	T	C	14: 70,037,160 (GRCm39)	D88G	probably damaging	Het
Rngtt	A	G	4: 33,379,394 (GRCm39)	E432G	probably benign	Het
Sh3rf1	A	G	8: 61,814,793 (GRCm39)	T451A	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Siva1	T	A	12: 112,613,336 (GRCm39)	D61E	probably benign	Het
Skor1	A	C	9: 63,046,855 (GRCm39)		probably null	Het
Slc20a1	A	G	2: 129,041,611 (GRCm39)		probably benign	Het
Slc2a7	A	G	4: 150,252,926 (GRCm39)	E522G	probably benign	Het
Tmprss7	A	T	16: 45,511,123 (GRCm39)	I85N	probably damaging	Het
Tpx2	T	A	2: 152,726,958 (GRCm39)	D408E	probably damaging	Het
Ulk4	A	T	9: 121,073,436 (GRCm39)	I551N	probably benign	Het
Zfat	A	T	15: 67,982,324 (GRCm39)		probably null	Het
Zfp101	C	A	17: 33,613,457 (GRCm39)		probably null	Het

Other mutations in Chst10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01947:Chst10	APN	1	38,904,646 (GRCm39)	missense	probably damaging	1.00
R0142:Chst10	UTSW	1	38,910,810 (GRCm39)	missense	probably damaging	1.00
R0513:Chst10	UTSW	1	38,904,844 (GRCm39)	missense	probably damaging	1.00
R1163:Chst10	UTSW	1	38,910,783 (GRCm39)	missense	probably damaging	1.00
R1464:Chst10	UTSW	1	38,904,772 (GRCm39)	missense	probably damaging	1.00
R1464:Chst10	UTSW	1	38,904,772 (GRCm39)	missense	probably damaging	1.00
R2129:Chst10	UTSW	1	38,904,776 (GRCm39)	missense	probably benign	0.41
R4163:Chst10	UTSW	1	38,910,904 (GRCm39)	missense	probably benign	0.01
R5328:Chst10	UTSW	1	38,935,043 (GRCm39)	start gained	probably benign
R5469:Chst10	UTSW	1	38,904,608 (GRCm39)	missense	probably damaging	1.00
R6311:Chst10	UTSW	1	38,907,128 (GRCm39)	missense	probably damaging	1.00
R6395:Chst10	UTSW	1	38,910,770 (GRCm39)	missense	probably damaging	1.00
R7156:Chst10	UTSW	1	38,913,088 (GRCm39)	missense	probably damaging	0.98
R7706:Chst10	UTSW	1	38,905,106 (GRCm39)	missense	probably damaging	0.99
R7789:Chst10	UTSW	1	38,923,532 (GRCm39)	missense	probably benign	0.03
R7941:Chst10	UTSW	1	38,910,772 (GRCm39)	missense	probably damaging	1.00
R8039:Chst10	UTSW	1	38,905,112 (GRCm39)	nonsense	probably null
R8252:Chst10	UTSW	1	38,923,433 (GRCm39)	missense	probably benign	0.00
R9482:Chst10	UTSW	1	38,907,116 (GRCm39)	missense	probably damaging	1.00
R9595:Chst10	UTSW	1	38,913,029 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATGCCAGCTTCTTTCAGGATG -3'
(R):5'- TGGAGCATTTGCCTCATCTCTG -3'

Sequencing Primer
(F):5'- CCAGCTTCTTTCAGGATGTACGG -3'
(R):5'- TCCTCAGATTGAAAACATACTTCAAG -3'

Posted On

2015-10-21