Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02826:Chst15'

361213

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: 0.061) question?

Stock #

IGL02826

Quality Score

Status

Chromosome

Chromosomal Location

132235780-132317228 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132266746 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 315 (D315V)

Ref Sequence

ENSEMBL: ENSMUSP00000079105 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000077472
AA Change: D315V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076682
Gene: ENSMUSG00000030930
AA Change: D315V

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 damaging
Transcript: ENSMUST00000080215
AA Change: D315V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079105
Gene: ENSMUSG00000030930
AA Change: D315V

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	A	C	16: 90,926,062	D261E	probably benign	Het
1810041L15Rik	A	G	15: 84,420,129		probably benign	Het
4930404N11Rik	A	G	10: 81,364,736		probably benign	Het
A3galt2	T	C	4: 128,761,509		probably benign	Het
Alk	C	T	17: 71,869,536	G1591D	probably damaging	Het
Angptl2	T	C	2: 33,228,315	S34P	probably benign	Het
Atp2a2	A	G	5: 122,489,291	V137A	probably benign	Het
Atp8b5	A	G	4: 43,366,770	M845V	probably damaging	Het
Camk1d	A	G	2: 5,565,760	V30A	possibly damaging	Het
Ceacam19	G	A	7: 19,882,610	T193I	probably benign	Het
Cux1	G	T	5: 136,308,003	P885Q	probably damaging	Het
Cyth1	C	T	11: 118,185,481	E88K	possibly damaging	Het
Dido1	A	G	2: 180,683,958	V479A	probably benign	Het
Dlc1	G	T	8: 36,570,275		probably benign	Het
H2-Ab1	G	A	17: 34,264,911	R82Q	probably damaging	Het
Hps6	T	A	19: 46,006,041	*806K	probably null	Het
Ilf3	T	C	9: 21,398,044	S486P	probably benign	Het
Kdm1b	C	A	13: 47,080,467	T759K	probably damaging	Het
Kirrel	C	A	3: 87,088,485	V381F	probably damaging	Het
Kmt2b	A	T	7: 30,577,144	V1701E	probably damaging	Het
Lrmda	T	C	14: 22,828,737	Y100H	probably damaging	Het
Mastl	T	C	2: 23,145,409	I169V	probably damaging	Het
Mroh2b	A	G	15: 4,962,148	E1576G	probably damaging	Het
Nek3	A	T	8: 22,160,368		probably null	Het
Nipal3	G	T	4: 135,468,550	Y247*	probably null	Het
Nt5e	A	C	9: 88,355,705	K229N	probably damaging	Het
Olfr237-ps1	A	G	6: 43,153,577	I91V	possibly damaging	Het
Olfr974	G	T	9: 39,942,958	G233C	probably damaging	Het
Opa1	A	G	16: 29,610,887	M290V	probably null	Het
Parp2	T	A	14: 50,815,415	I155K	probably benign	Het
Pde4dip	G	T	3: 97,767,087	A171E	probably damaging	Het
Prom2	C	T	2: 127,531,116	E678K	probably benign	Het
Rab12	A	G	17: 66,498,116		probably benign	Het
Rgs8	A	T	1: 153,670,799	T13S	probably damaging	Het
Setd3	A	G	12: 108,112,124		probably benign	Het
Slx4ip	G	A	2: 137,004,973	V53I	probably damaging	Het
Stil	A	G	4: 115,024,098	D613G	probably benign	Het
Tjp3	T	A	10: 81,273,689	S858C	probably damaging	Het
Tmem215	A	G	4: 40,474,632	*236W	probably null	Het
Ttbk1	A	G	17: 46,470,660	V389A	probably benign	Het
Wdfy4	A	G	14: 32,971,750	F2706S	possibly damaging	Het
Xpo4	C	A	14: 57,629,420	V222L	possibly damaging	Het
Zfc3h1	A	G	10: 115,400,904	S428G	probably benign	Het
Zfp286	T	C	11: 62,787,960	Q47R	probably damaging	Het
Zfp318	A	G	17: 46,398,754	K468E	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
IGL02355:Chst15	APN	7	132266672	missense	probably benign	0.26
IGL02362:Chst15	APN	7	132266672	missense	probably benign	0.26
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
R8282:Chst15	UTSW	7	132270150	missense	probably benign
R8342:Chst15	UTSW	7	132247886	missense	probably benign	0.15

Posted On

2015-12-18