Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03368:Chst11'

420185

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chst11

Ensembl Gene

ENSMUSG00000034612

Gene Name

carbohydrate sulfotransferase 11

Synonyms

C4ST1, 1110020P09Rik, chondroitin 4, C4ST-1, C4ST

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03368

Quality Score

Status

Chromosome

Chromosomal Location

82821332-83031734 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 82927980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 66 (P66T)

Ref Sequence

ENSEMBL: ENSMUSP00000045349 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040110]

AlphaFold

Q9JME2

Predicted Effect

probably benign
Transcript: ENSMUST00000040110
AA Change: P66T

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000045349
Gene: ENSMUSG00000034612
AA Change: P66T

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Sulfotransfer_2	108	344	5.6e-71	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. A chromosomal translocation involving this gene and IgH, t(12;14)(q23;q32), has been reported in a patient with B-cell chronic lymphocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality associated with respiratory distress, dwarfism, and abnormal skeletal structures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530053G22Rik	T	C	6: 60,380,530 (GRCm39)		noncoding transcript	Het
Abca5	A	G	11: 110,204,348 (GRCm39)		probably benign	Het
Agxt2	T	A	15: 10,388,256 (GRCm39)	C278*	probably null	Het
Ankar	A	G	1: 72,714,972 (GRCm39)	L384P	probably damaging	Het
Ankrd55	T	C	13: 112,455,090 (GRCm39)		probably benign	Het
Ap5m1	A	G	14: 49,318,593 (GRCm39)		probably benign	Het
Arhgap18	C	T	10: 26,648,689 (GRCm39)	S37F	possibly damaging	Het
Btnl10	G	A	11: 58,810,212 (GRCm39)	V118I	possibly damaging	Het
Cited2	C	A	10: 17,599,944 (GRCm39)	P84Q	possibly damaging	Het
Cplane1	T	C	15: 8,251,857 (GRCm39)	V1914A	probably benign	Het
Dpy19l4	T	A	4: 11,290,253 (GRCm39)	I302F	possibly damaging	Het
Ece2	A	G	16: 20,462,908 (GRCm39)	E640G	possibly damaging	Het
Fam184b	T	C	5: 45,689,166 (GRCm39)	D890G	possibly damaging	Het
Fam227b	A	T	2: 125,960,983 (GRCm39)	D215E	probably damaging	Het
Foxp2	A	G	6: 15,394,717 (GRCm39)	K139R	probably damaging	Het
Gle1	T	C	2: 29,833,805 (GRCm39)	C401R	probably damaging	Het
Gp2	A	T	7: 119,052,097 (GRCm39)	C206S	probably damaging	Het
Hdgfl2	G	T	17: 56,386,746 (GRCm39)		probably benign	Het
Hmcn1	T	C	1: 150,539,623 (GRCm39)	N2956S	probably damaging	Het
Ifi209	A	G	1: 173,470,057 (GRCm39)	Q215R	possibly damaging	Het
Il20rb	C	T	9: 100,341,174 (GRCm39)		probably benign	Het
Katnip	T	C	7: 125,468,030 (GRCm39)		probably benign	Het
Kif26b	A	C	1: 178,743,773 (GRCm39)	S1290R	probably damaging	Het
Mical1	A	G	10: 41,355,625 (GRCm39)	I156M	probably damaging	Het
Nbas	C	T	12: 13,378,452 (GRCm39)	A613V	probably benign	Het
Nbea	C	T	3: 55,987,351 (GRCm39)	V380M	probably damaging	Het
Nutf2	T	C	8: 106,602,232 (GRCm39)	F14S	probably damaging	Het
Or4c35	A	T	2: 89,808,133 (GRCm39)	I4L	probably benign	Het
Or52r1b	T	A	7: 102,690,972 (GRCm39)	H95Q	possibly damaging	Het
Parp1	A	G	1: 180,408,187 (GRCm39)	E236G	probably benign	Het
Podnl1	G	A	8: 84,858,818 (GRCm39)	V548I	probably benign	Het
Ptcd2	T	A	13: 99,466,577 (GRCm39)		probably benign	Het
Pygl	T	C	12: 70,237,926 (GRCm39)	Q704R	probably benign	Het
Scaper	A	T	9: 55,563,311 (GRCm39)	S492T	possibly damaging	Het
Sephs1	G	A	2: 4,894,080 (GRCm39)	D94N	possibly damaging	Het
Slc22a29	A	C	19: 8,184,626 (GRCm39)		probably null	Het
Slc22a8	G	T	19: 8,586,483 (GRCm39)		probably benign	Het
Slfn5	A	G	11: 82,847,211 (GRCm39)	D32G	possibly damaging	Het
Sphkap	T	A	1: 83,253,397 (GRCm39)	T1451S	probably benign	Het
Srp54a	A	C	12: 55,138,051 (GRCm39)	E63A	probably null	Het
Stap1	T	A	5: 86,238,827 (GRCm39)	I165N	probably damaging	Het
Terf2	T	C	8: 107,797,181 (GRCm39)	E494G	probably damaging	Het
Trak1	C	A	9: 121,196,188 (GRCm39)	L7I	possibly damaging	Het
Twnk	T	C	19: 44,998,931 (GRCm39)	V557A	probably damaging	Het
U2af2	T	A	7: 5,070,263 (GRCm39)		probably benign	Het
Ube2j1	T	A	4: 33,038,317 (GRCm39)	I75N	probably damaging	Het
Ubr5	A	G	15: 37,998,560 (GRCm39)	V1643A	probably damaging	Het
Vsx2	A	G	12: 84,617,074 (GRCm39)	T120A	probably benign	Het

Other mutations in Chst11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Chst11	APN	10	83,027,467 (GRCm39)	missense	possibly damaging	0.94
IGL00659:Chst11	APN	10	83,027,639 (GRCm39)	utr 3 prime	probably benign
IGL02676:Chst11	APN	10	83,027,563 (GRCm39)	missense	probably damaging	1.00
IGL02999:Chst11	APN	10	83,027,538 (GRCm39)	missense	possibly damaging	0.77
lavoisier	UTSW	10	83,027,020 (GRCm39)	missense	possibly damaging	0.81
Mendeleev	UTSW	10	83,027,302 (GRCm39)	missense	probably damaging	1.00
BB002:Chst11	UTSW	10	83,026,788 (GRCm39)	missense	probably damaging	0.98
BB012:Chst11	UTSW	10	83,026,788 (GRCm39)	missense	probably damaging	0.98
R1929:Chst11	UTSW	10	83,027,004 (GRCm39)	missense	probably damaging	0.99
R2271:Chst11	UTSW	10	83,027,004 (GRCm39)	missense	probably damaging	0.99
R4844:Chst11	UTSW	10	83,026,923 (GRCm39)	nonsense	probably null
R5040:Chst11	UTSW	10	83,026,780 (GRCm39)	missense	probably benign	0.02
R5396:Chst11	UTSW	10	83,027,083 (GRCm39)	missense	probably damaging	0.98
R6512:Chst11	UTSW	10	83,027,302 (GRCm39)	missense	probably damaging	1.00
R6964:Chst11	UTSW	10	83,027,215 (GRCm39)	missense	probably damaging	1.00
R7803:Chst11	UTSW	10	83,027,020 (GRCm39)	missense	possibly damaging	0.81
R7925:Chst11	UTSW	10	83,026,788 (GRCm39)	missense	probably damaging	0.98
R9194:Chst11	UTSW	10	83,027,319 (GRCm39)	missense	probably damaging	1.00
R9406:Chst11	UTSW	10	83,026,881 (GRCm39)	missense	possibly damaging	0.70
X0033:Chst11	UTSW	10	83,026,984 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02