Mutagenetix > Incidental Mutation

Incidental Mutation 'R9482:Chst10'

716278

Institutional Source

Beutler Lab

Gene Symbol

Chst10

Ensembl Gene

ENSMUSG00000026080

Gene Name

carbohydrate sulfotransferase 10

Synonyms

ST, Hnk-1st

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

R9482 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38902948-38937242 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38907116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 178 (E178G)

Ref Sequence

ENSEMBL: ENSMUSP00000027249 (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: E178G

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

SMART Domains

Protein: ENSMUSP00000027249
Gene: ENSMUSG00000026080
AA Change: E178G

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: E71G

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

SMART Domains

Protein: ENSMUSP00000141470
Gene: ENSMUSG00000026080
AA Change: E71G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000193441
AA Change: E178G

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

SMART Domains

Protein: ENSMUSP00000142028
Gene: ENSMUSG00000026080
AA Change: E178G

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: E174G

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

SMART Domains

Protein: ENSMUSP00000141295
Gene: ENSMUSG00000026080
AA Change: E174G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	G	10: 14,307,423 (GRCm39)	V793A	probably benign	Het
Als2	G	T	1: 59,231,109 (GRCm39)	P834Q	probably damaging	Het
Alx1	T	C	10: 102,864,335 (GRCm39)	T45A	probably benign	Het
Angptl7	T	G	4: 148,584,575 (GRCm39)	S58R	possibly damaging	Het
Atg3	A	G	16: 44,979,481 (GRCm39)	T7A	probably benign	Het
Bpifc	A	T	10: 85,815,118 (GRCm39)	S283T	possibly damaging	Het
C2cd2l	T	A	9: 44,227,914 (GRCm39)	E231V	probably damaging	Het
Cdk5r2	T	C	1: 74,894,504 (GRCm39)	V83A	probably damaging	Het
Crocc2	T	A	1: 93,143,106 (GRCm39)	L1236Q	probably benign	Het
Dleu7	T	C	14: 62,514,351 (GRCm39)	*210W	probably null	Het
Emc1	T	G	4: 139,088,201 (GRCm39)	V323G	probably damaging	Het
Fcrla	T	C	1: 170,745,949 (GRCm39)	T278A	probably benign	Het
Flrt3	T	C	2: 140,503,590 (GRCm39)	T13A	probably benign	Het
Galntl6	A	T	8: 58,310,549 (GRCm39)		probably null	Het
Gen1	A	G	12: 11,305,186 (GRCm39)	V203A	possibly damaging	Het
Gm3149	T	A	14: 15,698,287 (GRCm39)	V169E	probably benign	Het
Hjurp	CTCCTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCA	C	1: 88,193,996 (GRCm39)		probably benign	Het
Hmcn1	A	G	1: 150,610,281 (GRCm39)	S1463P	probably benign	Het
Irag1	A	T	7: 110,545,259 (GRCm39)	D12E	probably benign	Het
Jsrp1	A	T	10: 80,644,734 (GRCm39)	I224N	possibly damaging	Het
Kcnk2	CAAA	CAA	1: 188,988,891 (GRCm39)		probably null	Het
Kcnma1	A	T	14: 23,441,033 (GRCm39)	M591K	probably benign	Het
Kmt2d	A	C	15: 98,763,046 (GRCm39)	W268G	probably damaging	Het
Knop1	A	G	7: 118,447,710 (GRCm39)	S417P	unknown	Het
Lpin3	T	C	2: 160,746,416 (GRCm39)	F692L	probably damaging	Het
Mycbp	T	C	4: 123,803,880 (GRCm39)	C130R	unknown	Het
Myh1	T	C	11: 67,108,745 (GRCm39)	I1387T	probably damaging	Het
Nbeal2	T	C	9: 110,463,066 (GRCm39)	D1333G	probably benign	Het
Nedd4l	G	T	18: 65,021,031 (GRCm39)		probably benign	Het
Nucks1	A	G	1: 131,846,744 (GRCm39)	N7D	probably benign	Het
Nup210	A	G	6: 91,019,608 (GRCm39)	I991T	probably damaging	Het
Or4a72	C	T	2: 89,405,953 (GRCm39)	G39D	probably damaging	Het
Pcdhb3	A	G	18: 37,434,736 (GRCm39)	D234G	probably damaging	Het
Phyh	C	T	2: 4,923,863 (GRCm39)		probably benign	Het
Pik3c2a	G	A	7: 115,961,289 (GRCm39)	T1070I	probably benign	Het
Prss52	C	T	14: 64,351,129 (GRCm39)	L305F	probably damaging	Het
Rasef	T	C	4: 73,708,933 (GRCm39)	D100G	probably benign	Het
Rb1	A	C	14: 73,443,493 (GRCm39)	M754R	probably damaging	Het
Rbm6	T	C	9: 107,669,208 (GRCm39)	Q568R	possibly damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Serf2	T	C	2: 121,281,206 (GRCm39)	S41P	possibly damaging	Het
Serf2	C	A	2: 121,281,205 (GRCm39)	D40E	possibly damaging	Het
Sh2b1	AGCTC	AGCTCAGCCACGGGGACCCGCTC	7: 126,066,768 (GRCm39)		probably benign	Het
Sympk	G	T	7: 18,771,986 (GRCm39)	R350L	possibly damaging	Het
Tab2	C	A	10: 7,795,124 (GRCm39)	V379L	probably damaging	Het
Tnk1	T	G	11: 69,743,666 (GRCm39)	T485P	probably benign	Het
Trmt6	T	C	2: 132,648,699 (GRCm39)	T412A	probably benign	Het
Vgll3	A	G	16: 65,636,229 (GRCm39)	T182A	probably benign	Het
Zfat	A	G	15: 68,084,652 (GRCm39)	S80P	probably damaging	Het
Zfp1004	C	A	2: 150,034,711 (GRCm39)	T344K	probably benign	Het
Zfyve26	A	G	12: 79,291,239 (GRCm39)	L2122S	probably damaging	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
R4712:Chst10	UTSW	1	38,904,922 (GRCm39)	missense	probably damaging	1.00
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
R9595:Chst10	UTSW	1	38,913,029 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CACAGCAAGTGCAGACTGAG -3'
(R):5'- TTCAGGAGTGTACACATGGAC -3'

Sequencing Primer
(F):5'- CAAGTGCAGACTGAGCCTGG -3'
(R):5'- TCAGGAGTGTACACATGGACATTGG -3'

Posted On

2022-07-18