Mutagenetix > Incidental Mutation

Incidental Mutation 'R4163:Chst10'

321586

Institutional Source

Beutler Lab

Gene Symbol

Chst10

Ensembl Gene

ENSMUSG00000026080

Gene Name

carbohydrate sulfotransferase 10

Synonyms

ST, Hnk-1st

MMRRC Submission

041006-MU

Accession Numbers

Essential gene?

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

Stock #

R4163 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38902948-38937242 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38910904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 87 (M87L)

Ref Sequence

ENSEMBL: ENSMUSP00000142028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027249] [ENSMUST00000192948] [ENSMUST00000193435] [ENSMUST00000193441] [ENSMUST00000194361] [ENSMUST00000194657]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027249
AA Change: M87L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000027249
Gene: ENSMUSG00000026080
AA Change: M87L

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 benign
Transcript: ENSMUST00000192948

SMART Domains

Protein: ENSMUSP00000141470
Gene: ENSMUSG00000026080

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

Predicted Effect

probably benign
Transcript: ENSMUST00000193435

SMART Domains

Protein: ENSMUSP00000141604
Gene: ENSMUSG00000026080

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193441
AA Change: M87L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000142028
Gene: ENSMUSG00000026080
AA Change: M87L

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 benign
Transcript: ENSMUST00000194361
AA Change: M83L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000141295
Gene: ENSMUSG00000026080
AA Change: M83L

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (59/59)

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
4930555F03Rik	G	A	8: 49,948,531 (GRCm39)		noncoding transcript	Het
Abca8a	C	T	11: 109,941,808 (GRCm39)	D1154N	probably benign	Het
Adgrf4	A	G	17: 42,978,477 (GRCm39)	F289L	probably benign	Het
Alkbh2	A	G	5: 114,265,613 (GRCm39)	L63S	probably damaging	Het
Atp13a4	A	T	16: 29,360,068 (GRCm39)	N19K	possibly damaging	Het
Birc6	T	A	17: 74,933,975 (GRCm39)	Y2544N	probably damaging	Het
Bnip5	T	C	17: 29,118,503 (GRCm39)	Y643C	probably benign	Het
Bpifa3	A	G	2: 153,977,516 (GRCm39)	N118S	probably damaging	Het
Cnot9	C	T	1: 74,568,006 (GRCm39)	P298L	probably damaging	Het
Cops5	T	C	1: 10,100,912 (GRCm39)	Y228C	probably damaging	Het
Dcaf8	T	G	1: 172,020,137 (GRCm39)	L492R	probably damaging	Het
Dis3l2	A	G	1: 86,748,959 (GRCm39)	S128G	probably benign	Het
Dock1	A	G	7: 134,346,051 (GRCm39)	R198G	possibly damaging	Het
Elovl7	T	A	13: 108,403,904 (GRCm39)	M82K	possibly damaging	Het
Entrep1	G	A	19: 23,952,993 (GRCm39)	A439V	probably damaging	Het
Entrep1	C	T	19: 23,953,002 (GRCm39)	S436N	probably damaging	Het
Fcgr2b	T	C	1: 170,791,016 (GRCm39)	D259G	possibly damaging	Het
Flnb	A	T	14: 7,915,374 (GRCm38)	I1502F	possibly damaging	Het
Frk	C	T	10: 34,467,868 (GRCm39)	P294L	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm128	C	A	3: 95,147,802 (GRCm39)	R164L	probably benign	Het
Gm2223	C	T	X: 32,943,247 (GRCm39)		noncoding transcript	Het
Hexd	C	A	11: 121,111,975 (GRCm39)	A423E	probably benign	Het
Itgax	G	T	7: 127,743,872 (GRCm39)	V878F	probably benign	Het
Kank2	A	T	9: 21,706,864 (GRCm39)	D51E	probably damaging	Het
Kcna4	G	C	2: 107,126,151 (GRCm39)	W295S	probably damaging	Het
Mfsd12	A	G	10: 81,196,931 (GRCm39)		probably null	Het
Mis12	A	G	11: 70,916,482 (GRCm39)	T172A	probably benign	Het
Myo10	T	A	15: 25,726,501 (GRCm39)		probably null	Het
Myo18a	G	T	11: 77,720,534 (GRCm39)	R1103L	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Ntrk2	T	C	13: 59,008,054 (GRCm39)	V272A	probably damaging	Het
Or2ag17	A	T	7: 106,389,486 (GRCm39)	C241S	probably damaging	Het
Or5p64	A	T	7: 107,855,039 (GRCm39)	I102N	probably benign	Het
Or7e165	A	T	9: 19,695,086 (GRCm39)	Y219F	possibly damaging	Het
Pcdh20	C	T	14: 88,705,615 (GRCm39)	D562N	probably damaging	Het
Prep	T	C	10: 44,943,436 (GRCm39)	F4L	probably benign	Het
Prep	G	T	10: 44,943,458 (GRCm39)	R11L	possibly damaging	Het
Ptgs1	C	T	2: 36,141,346 (GRCm39)	R598C	possibly damaging	Het
Rasgrp1	T	C	2: 117,113,135 (GRCm39)	D759G	probably benign	Het
Setd5	T	C	6: 113,096,545 (GRCm39)	S584P	probably benign	Het
Shank3	A	G	15: 89,433,797 (GRCm39)	D1514G	probably damaging	Het
Shox2	T	C	3: 66,881,104 (GRCm39)		probably benign	Het
Slc44a5	A	T	3: 153,967,010 (GRCm39)	R565S	possibly damaging	Het
Slc7a5	A	G	8: 122,615,139 (GRCm39)	L236S	probably benign	Het
Slfn3	A	T	11: 83,103,596 (GRCm39)	I156F	probably damaging	Het
Spout1	C	T	2: 30,067,589 (GRCm39)		probably benign	Het
Trim72	T	C	7: 127,607,080 (GRCm39)	V203A	probably benign	Het
Vrk2	T	A	11: 26,497,915 (GRCm39)	I90L	probably benign	Het
Zc3h12c	A	T	9: 52,026,999 (GRCm39)	Y788N	probably damaging	Het
Zfp831	A	G	2: 174,485,822 (GRCm39)	T166A	possibly 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
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
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'- CAGCACTTTCTTCCACTGGG -3'
(R):5'- GCCTGTCTTTTAAACTCAGCAGG -3'

Sequencing Primer
(F):5'- CACCTTGGGAGTCTGACAG -3'
(R):5'- CAGGGCTGTGCAGGGAG -3'

Posted On

2015-06-12