Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03111:Chst1'

419212

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chst1

Ensembl Gene

ENSMUSG00000027221

Gene Name

carbohydrate sulfotransferase 1

Synonyms

GST-1, KSGAL6ST, C6ST, 2610008E20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

IGL03111

Quality Score

Status

Chromosome

Chromosomal Location

92430052-92445595 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92443692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 55 (Y55H)

Ref Sequence

ENSEMBL: ENSMUSP00000064246 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065797]

AlphaFold

Q9EQC0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065797
AA Change: Y55H

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000064246
Gene: ENSMUSG00000027221
AA Change: Y55H

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Sulfotransfer_1	60	384	7.1e-64	PFAM
Pfam:Sulfotransfer_3	61	323	1.7e-14	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the keratin sulfotransferase family of proteins. The encoded enzyme catalyzes the sulfation of the proteoglycan keratin. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased male sibling aggression when house together, a small decrease in the peripheral and mesenteric lymph nodes and peripheral blood and a small increase in the peripheral lymph nodes and peripheral blood. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aftph	T	C	11: 20,676,040 (GRCm39)	D523G	probably benign	Het
Alkbh1	A	C	12: 87,480,907 (GRCm39)	H176Q	probably damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Arid4a	G	A	12: 71,086,740 (GRCm39)	A193T	probably damaging	Het
Cdkal1	A	G	13: 29,538,684 (GRCm39)	S492P	possibly damaging	Het
Cep170b	C	T	12: 112,701,613 (GRCm39)	T164I	probably damaging	Het
Clybl	C	T	14: 122,639,395 (GRCm39)	P320S	probably damaging	Het
Cpne9	T	C	6: 113,277,571 (GRCm39)	I430T	possibly damaging	Het
Cyc1	T	G	15: 76,229,072 (GRCm39)	S113A	probably benign	Het
Cyp4b1	C	T	4: 115,493,066 (GRCm39)		probably benign	Het
Dpysl3	T	C	18: 43,462,910 (GRCm39)	D489G	probably damaging	Het
Epha3	T	C	16: 63,473,809 (GRCm39)	D15G	probably damaging	Het
Ephb4	C	A	5: 137,370,767 (GRCm39)	F933L	probably benign	Het
Fan1	A	T	7: 63,999,816 (GRCm39)	D856E	possibly damaging	Het
Gabra6	T	A	11: 42,207,844 (GRCm39)	D208V	probably damaging	Het
Kif3b	T	A	2: 153,171,988 (GRCm39)	S719R	probably benign	Het
Ldhd	A	C	8: 112,353,797 (GRCm39)	C439G	probably damaging	Het
Lipo3	C	T	19: 33,559,637 (GRCm39)	V78I	probably damaging	Het
Mterf2	A	T	10: 84,955,786 (GRCm39)	Y279*	probably null	Het
Myo9a	G	T	9: 59,734,526 (GRCm39)	A703S	probably benign	Het
Ndst3	T	A	3: 123,465,745 (GRCm39)	T76S	possibly damaging	Het
Nlrp4f	A	T	13: 65,330,816 (GRCm39)	L859Q	probably damaging	Het
Nlrp4g	T	A	9: 124,353,978 (GRCm38)		noncoding transcript	Het
Or1s2	T	A	19: 13,758,343 (GRCm39)	Y122*	probably null	Het
Or51g2	G	A	7: 102,622,738 (GRCm39)	R154C	probably damaging	Het
Or6c215	G	A	10: 129,637,947 (GRCm39)	T149I	probably benign	Het
Osgin1	A	T	8: 120,169,788 (GRCm39)	K113M	probably damaging	Het
Plcb4	T	A	2: 135,818,202 (GRCm39)	Y823N	probably damaging	Het
Prg4	T	C	1: 150,327,653 (GRCm39)	I856V	probably benign	Het
Pxdn	T	A	12: 30,032,755 (GRCm39)	S180T	probably damaging	Het
Skint9	T	A	4: 112,248,921 (GRCm39)	N169I	probably benign	Het
Slc24a1	T	C	9: 64,833,608 (GRCm39)	T996A	probably damaging	Het
Tbc1d20	T	C	2: 152,149,998 (GRCm39)	Y91H	probably damaging	Het
Tbc1d9b	A	G	11: 50,049,369 (GRCm39)	Y772C	probably damaging	Het
Thbd	T	A	2: 148,248,392 (GRCm39)	E492V	probably benign	Het
Thra	A	G	11: 98,651,855 (GRCm39)		probably benign	Het
Tmem131	A	G	1: 36,867,225 (GRCm39)	S403P	probably damaging	Het
Zfp455	T	C	13: 67,356,063 (GRCm39)	S444P	probably benign	Het
Zfp946	A	G	17: 22,673,537 (GRCm39)	H97R	possibly damaging	Het

Other mutations in Chst1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Chst1	APN	2	92,444,475 (GRCm39)	missense	probably damaging	0.98
IGL02339:Chst1	APN	2	92,443,922 (GRCm39)	missense	possibly damaging	0.74
IGL03082:Chst1	APN	2	92,444,278 (GRCm39)	missense	possibly damaging	0.77
R0267:Chst1	UTSW	2	92,443,951 (GRCm39)	missense	probably damaging	1.00
R0294:Chst1	UTSW	2	92,443,987 (GRCm39)	missense	probably damaging	1.00
R0504:Chst1	UTSW	2	92,444,169 (GRCm39)	missense	probably benign	0.20
R0707:Chst1	UTSW	2	92,443,964 (GRCm39)	missense	possibly damaging	0.88
R1302:Chst1	UTSW	2	92,443,864 (GRCm39)	missense	probably damaging	1.00
R2082:Chst1	UTSW	2	92,444,335 (GRCm39)	missense	possibly damaging	0.75
R4891:Chst1	UTSW	2	92,444,337 (GRCm39)	missense	possibly damaging	0.48
R5352:Chst1	UTSW	2	92,443,710 (GRCm39)	missense	possibly damaging	0.75
R6766:Chst1	UTSW	2	92,443,542 (GRCm39)	missense	probably damaging	1.00
R6891:Chst1	UTSW	2	92,444,088 (GRCm39)	missense	probably benign
R9076:Chst1	UTSW	2	92,443,761 (GRCm39)	nonsense	probably null
R9145:Chst1	UTSW	2	92,444,523 (GRCm39)	missense	probably damaging	1.00
R9745:Chst1	UTSW	2	92,444,047 (GRCm39)	missense	possibly damaging	0.78

Posted On

2016-08-02