Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00498:Chst3'

9710

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chst3

Ensembl Gene

ENSMUSG00000057337

Gene Name

carbohydrate sulfotransferase 3

Synonyms

C6ST-1, C6ST, GST-0

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

IGL00498

Quality Score

Status

Chromosome

Chromosomal Location

60017354-60055082 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60021441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 469 (F469L)

Ref Sequence

ENSEMBL: ENSMUSP00000131532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068690] [ENSMUST00000135158] [ENSMUST00000167915]

AlphaFold

O88199

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068690
AA Change: F469L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000065010
Gene: ENSMUSG00000057337
AA Change: F469L

Domain	Start	End	E-Value	Type
transmembrane domain	20	38	N/A	INTRINSIC
low complexity region	68	83	N/A	INTRINSIC
low complexity region	88	101	N/A	INTRINSIC
Pfam:Sulfotransfer_1	126	445	4.2e-57	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135158
AA Change: F475L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126281
Gene: ENSMUSG00000057337
AA Change: F475L

Domain	Start	End	E-Value	Type
transmembrane domain	26	44	N/A	INTRINSIC
low complexity region	74	89	N/A	INTRINSIC
low complexity region	94	107	N/A	INTRINSIC
Pfam:Sulfotransfer_1	132	451	4.9e-57	PFAM
Pfam:Sulfotransfer_3	133	391	1.5e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167915
AA Change: F469L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131532
Gene: ENSMUSG00000057337
AA Change: F469L

Domain	Start	End	E-Value	Type
transmembrane domain	20	38	N/A	INTRINSIC
low complexity region	68	83	N/A	INTRINSIC
low complexity region	88	101	N/A	INTRINSIC
Pfam:Sulfotransfer_1	126	445	4.2e-57	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 gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous mutation of this gene results in significantly reduced numbers of naive T lymphocytes in the spleen at 5-6 weeks of age. Brain development and morphology is normal in mutant animals but for some alleles behavioral abnormalities are seen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	G	A	2: 68,432,242 (GRCm39)	G128R	unknown	Het
Acsm5	T	C	7: 119,141,661 (GRCm39)		probably null	Het
Atad2	A	C	15: 57,980,216 (GRCm39)	F423V	probably damaging	Het
Carmil3	T	A	14: 55,739,352 (GRCm39)		probably null	Het
Cdc42bpa	A	C	1: 179,933,686 (GRCm39)	E775A	probably damaging	Het
Cfdp1	T	C	8: 112,567,110 (GRCm39)	E133G	probably benign	Het
Dbx1	T	C	7: 49,286,222 (GRCm39)	D81G	probably benign	Het
Dmp1	A	G	5: 104,358,021 (GRCm39)		probably benign	Het
Dnah8	A	G	17: 30,896,150 (GRCm39)	T855A	probably benign	Het
Fbxw2	C	T	2: 34,695,953 (GRCm39)	A250T	probably damaging	Het
Fcgbp	T	C	7: 27,791,222 (GRCm39)	C828R	probably damaging	Het
Gmfg	G	T	7: 28,145,810 (GRCm39)	R83L	possibly damaging	Het
Gpr37l1	A	G	1: 135,089,440 (GRCm39)		probably benign	Het
Hcfc1r1	G	A	17: 23,892,982 (GRCm39)	R9Q	probably damaging	Het
Hsd17b1	A	T	11: 100,970,884 (GRCm39)	H280L	possibly damaging	Het
Hsd17b12	A	C	2: 93,913,510 (GRCm39)		probably null	Het
Itga1	A	G	13: 115,167,729 (GRCm39)	V99A	probably benign	Het
Kcnn1	A	G	8: 71,305,524 (GRCm39)	S229P	probably damaging	Het
Klhdc8a	A	G	1: 132,230,756 (GRCm39)	N207S	probably benign	Het
Lrrtm4	T	C	6: 79,999,529 (GRCm39)	W314R	probably damaging	Het
Malrd1	T	C	2: 16,146,997 (GRCm39)		probably benign	Het
Marcks	T	C	10: 37,014,513 (GRCm39)	K7E	probably damaging	Het
Mov10	A	G	3: 104,708,263 (GRCm39)		probably benign	Het
Pclo	A	T	5: 14,590,753 (GRCm39)	T1018S	unknown	Het
Sdk1	T	C	5: 142,071,361 (GRCm39)	Y1184H	probably damaging	Het
Slc6a18	A	T	13: 73,819,838 (GRCm39)	M244K	possibly damaging	Het
Snx19	C	T	9: 30,340,233 (GRCm39)	T457I	possibly damaging	Het
Stard3	T	A	11: 98,267,356 (GRCm39)	V158D	possibly damaging	Het
Tnks	G	T	8: 35,328,843 (GRCm39)		probably benign	Het
Ugt2b34	A	G	5: 87,049,084 (GRCm39)	S314P	probably damaging	Het
Usp15	G	A	10: 122,949,501 (GRCm39)	S952L	probably benign	Het
Utp11	A	G	4: 124,573,532 (GRCm39)	V214A	possibly damaging	Het

Other mutations in Chst3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01301:Chst3	APN	10	60,021,654 (GRCm39)	missense	probably damaging	1.00
IGL01760:Chst3	APN	10	60,022,292 (GRCm39)	missense	probably damaging	1.00
IGL03036:Chst3	APN	10	60,022,261 (GRCm39)	nonsense	probably null
ANU18:Chst3	UTSW	10	60,021,654 (GRCm39)	missense	probably damaging	1.00
R0462:Chst3	UTSW	10	60,022,535 (GRCm39)	missense	probably benign
R0501:Chst3	UTSW	10	60,022,049 (GRCm39)	missense	probably damaging	0.99
R1698:Chst3	UTSW	10	60,021,525 (GRCm39)	missense	probably benign	0.19
R1807:Chst3	UTSW	10	60,022,130 (GRCm39)	missense	probably benign	0.22
R4250:Chst3	UTSW	10	60,021,890 (GRCm39)	missense	probably damaging	0.96
R9090:Chst3	UTSW	10	60,021,465 (GRCm39)	missense	probably damaging	1.00
R9271:Chst3	UTSW	10	60,021,465 (GRCm39)	missense	probably damaging	1.00
Z1176:Chst3	UTSW	10	60,021,498 (GRCm39)	missense	possibly damaging	0.56
Z1177:Chst3	UTSW	10	60,022,082 (GRCm39)	missense	probably benign	0.03

Posted On

2012-12-06