Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02355:Chst15'

289655

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chst15

Ensembl Gene

ENSMUSG00000030930

Gene Name

carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15

Synonyms

MAd5, GalNAcS-6ST, MAd5, 4631426J05Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

IGL02355

Quality Score

Status

Chromosome

Chromosomal Location

132235780-132317228 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132266672 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 340 (N340D)

Ref Sequence

ENSEMBL: ENSMUSP00000079105 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077472] [ENSMUST00000080215] [ENSMUST00000124096]

Predicted Effect

probably benign
Transcript: ENSMUST00000077472
AA Change: N340D

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000076682
Gene: ENSMUSG00000030930
AA Change: N340D

Domain	Start	End	E-Value	Type
transmembrane domain	80	102	N/A	INTRINSIC
Pfam:Sulfotransfer_3	254	502	4.2e-10	PFAM
Pfam:Sulfotransfer_1	369	524	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080215
AA Change: N340D

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000079105
Gene: ENSMUSG00000030930
AA Change: N340D

Domain	Start	End	E-Value	Type
transmembrane domain	80	102	N/A	INTRINSIC
Pfam:Sulfotransfer_3	254	499	7.9e-9	PFAM
Pfam:Sulfotransfer_1	369	524	1.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132508

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Chondroitin sulfate (CS) is a glycosaminoglycan which is an important structural component of the extracellular matrix and which links to proteins to form proteoglycans. Chondroitin sulfate E (CS-E) is an isomer of chondroitin sulfate in which the C-4 and C-6 hydroxyl groups are sulfated. This gene encodes a type II transmembrane glycoprotein that acts as a sulfotransferase to transfer sulfate to the C-6 hydroxal group of chondroitin sulfate. This gene has also been identified as being co-expressed with RAG1 in B-cells and as potentially acting as a B-cell surface signaling receptor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased litter size and abnormal bone marrow-derived mast cell morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	C	2: 111,211,651		probably benign	Het
Adam3	C	A	8: 24,697,191	C428F	probably damaging	Het
Alas1	T	C	9: 106,236,639	Y469C	probably damaging	Het
Asxl1	C	T	2: 153,401,786	L1419F	probably benign	Het
Bcan	C	T	3: 87,994,142	D418N	possibly damaging	Het
Cdc42bpg	A	G	19: 6,310,809	D199G	possibly damaging	Het
Col12a1	T	G	9: 79,630,711		probably benign	Het
Cyp2c67	T	A	19: 39,643,405	H116L	probably benign	Het
Cyp2c67	G	A	19: 39,617,382	R357*	probably null	Het
Ears2	T	C	7: 122,044,550	D395G	probably benign	Het
Fam227a	A	T	15: 79,643,938		probably benign	Het
Fap	A	G	2: 62,573,498	V11A	probably benign	Het
Ganc	A	G	2: 120,433,757	D397G	probably damaging	Het
Gjb6	C	A	14: 57,124,295	G170C	possibly damaging	Het
Gm13023	A	G	4: 143,793,010	S114G	probably damaging	Het
Gm8989	T	C	7: 106,330,273		noncoding transcript	Het
Gria2	A	T	3: 80,706,937	W599R	probably damaging	Het
Ighv1-64	A	G	12: 115,507,616	S94P	probably benign	Het
Kifc3	C	T	8: 95,109,879	A85T	probably damaging	Het
Lifr	G	A	15: 7,164,693		probably null	Het
Lonp2	T	G	8: 86,624,246	S21R	probably benign	Het
Nxpe3	A	G	16: 55,890,586	V30A	probably benign	Het
Olfml1	T	C	7: 107,567,803	V13A	probably benign	Het
Olfr1490	T	C	19: 13,655,233	V268A	probably benign	Het
Olfr366	A	G	2: 37,219,669	Y60C	probably damaging	Het
Pcnt	G	A	10: 76,375,162	Q2376*	probably null	Het
Pglyrp2	A	G	17: 32,417,022	L380P	probably damaging	Het
Plin3	A	G	17: 56,286,636	V26A	probably benign	Het
Rims1	A	G	1: 22,483,207	I470T	probably damaging	Het
Rora	T	C	9: 69,374,092	Y329H	probably damaging	Het
Scnn1b	G	A	7: 121,917,547	R503H	probably damaging	Het
Sec14l1	A	G	11: 117,144,849	D237G	possibly damaging	Het
Selplg	A	G	5: 113,819,406	S280P	probably benign	Het
Serpina12	A	G	12: 104,037,881	L164P	probably benign	Het
Sik2	C	T	9: 50,917,603	W176*	probably null	Het
Slc2a1	T	C	4: 119,136,415	F483S	possibly damaging	Het
Speg	A	G	1: 75,423,915	D2573G	possibly damaging	Het
Stil	C	T	4: 115,010,111	S239L	probably damaging	Het
Tmem94	C	A	11: 115,794,745	S941R	probably damaging	Het
Tnfrsf11b	T	A	15: 54,252,382	D273V	probably damaging	Het
Tns2	A	G	15: 102,112,290	T864A	probably benign	Het
Zfpm2	A	G	15: 41,099,494	H184R	probably damaging	Het

Other mutations in Chst15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01710:Chst15	APN	7	132270507	missense	probably benign	0.22
IGL01879:Chst15	APN	7	132270265	missense	possibly damaging	0.94
IGL02362:Chst15	APN	7	132266672	missense	probably benign	0.26
IGL02826:Chst15	APN	7	132266746	missense	probably damaging	1.00
IGL02860:Chst15	APN	7	132269102	missense	probably benign
IGL02972:Chst15	APN	7	132269173	missense	probably damaging	1.00
IGL03266:Chst15	APN	7	132270076	missense	probably damaging	1.00
IGL03331:Chst15	APN	7	132262713	missense	probably damaging	1.00
IGL03375:Chst15	APN	7	132270457	nonsense	probably null
R1476:Chst15	UTSW	7	132270273	missense	possibly damaging	0.95
R1501:Chst15	UTSW	7	132269069	nonsense	probably null
R1518:Chst15	UTSW	7	132270126	missense	probably damaging	1.00
R1943:Chst15	UTSW	7	132262850	splice site	probably null
R2164:Chst15	UTSW	7	132270385	missense	probably damaging	0.97
R3947:Chst15	UTSW	7	132247875	missense	probably damaging	1.00
R4921:Chst15	UTSW	7	132247884	missense	probably benign	0.01
R5817:Chst15	UTSW	7	132269144	missense	probably damaging	0.99
R5817:Chst15	UTSW	7	132269147	missense	probably damaging	0.99
R5917:Chst15	UTSW	7	132270517	missense	probably benign
R6930:Chst15	UTSW	7	132269030	missense	possibly damaging	0.95
R7159:Chst15	UTSW	7	132270258	missense	probably damaging	1.00
R7911:Chst15	UTSW	7	132270522	missense	probably benign	0.12
R7992:Chst15	UTSW	7	132270522	missense	probably benign	0.12

Posted On

2015-04-16