Mutagenetix > Incidental Mutation

Incidental Mutation 'R5817:Chst15'

449104

Institutional Source

Beutler Lab

Gene Symbol

Chst15

Ensembl Gene

ENSMUSG00000030930

Gene Name

carbohydrate sulfotransferase 15

Synonyms

4631426J05Rik, GalNAcS-6ST, MAd5, MAd5

MMRRC Submission

043397-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R5817 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131837509-131918957 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 131870873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 221 (Y221N)

Ref Sequence

ENSEMBL: ENSMUSP00000079105 (fasta)

Gene Model

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

AlphaFold

Q91XQ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000077472
AA Change: Y221N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000076682
Gene: ENSMUSG00000030930
AA Change: Y221N

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: Y221N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079105
Gene: ENSMUSG00000030930
AA Change: Y221N

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

Meta Mutation Damage Score

0.1508

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (71/71)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	G	4: 144,349,497 (GRCm39)	I251M	probably benign	Het
Abcf3	T	C	16: 20,367,833 (GRCm39)	V63A	possibly damaging	Het
Agpat4	C	T	17: 12,434,097 (GRCm39)		probably benign	Het
Ahcyl2	G	A	6: 29,890,720 (GRCm39)	V292M	probably damaging	Het
Ahnak2	A	T	12: 112,740,437 (GRCm39)	F406I	probably damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Arhgef5	G	A	6: 43,252,038 (GRCm39)	D930N	probably benign	Het
Cc2d2a	G	A	5: 43,869,760 (GRCm39)	R887Q	probably damaging	Het
Ceacam18	A	G	7: 43,291,265 (GRCm39)	T236A	probably benign	Het
Cntn2	G	A	1: 132,446,486 (GRCm39)	T784I	probably benign	Het
D630003M21Rik	A	G	2: 158,038,413 (GRCm39)	L1011P	probably damaging	Het
Dync2h1	T	A	9: 6,996,905 (GRCm39)	D3894V	probably damaging	Het
Eif1ad19	G	T	12: 87,740,201 (GRCm39)	D119E	probably benign	Het
Fam13b	T	C	18: 34,590,850 (GRCm39)	M443V	possibly damaging	Het
Fam20a	T	A	11: 109,564,244 (GRCm39)	Q503L	possibly damaging	Het
Ftdc2	T	C	16: 58,457,156 (GRCm39)	I89V	probably benign	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm5454	T	A	13: 103,493,140 (GRCm39)		noncoding transcript	Het
Gm5581	A	G	6: 131,144,132 (GRCm39)		noncoding transcript	Het
Gm6619	A	G	6: 131,463,400 (GRCm39)	I6V	unknown	Het
Gmcl1	A	G	6: 86,691,230 (GRCm39)	M255T	probably damaging	Het
Golm2	T	A	2: 121,736,525 (GRCm39)	S231T	probably benign	Het
Gprc5c	T	A	11: 114,754,450 (GRCm39)	C42*	probably null	Het
Hmcn1	T	A	1: 150,613,275 (GRCm39)	E1384V	possibly damaging	Het
Il6	A	G	5: 30,223,006 (GRCm39)	I91V	probably benign	Het
Kmt2d	A	T	15: 98,760,244 (GRCm39)	S1005T	unknown	Het
Map1a	A	T	2: 121,129,391 (GRCm39)	H143L	possibly damaging	Het
Mical2	A	T	7: 111,922,866 (GRCm39)	T624S	probably benign	Het
Msh3	A	T	13: 92,422,508 (GRCm39)	N549K	possibly damaging	Het
Ncr1	T	A	7: 4,343,894 (GRCm39)	I164N	possibly damaging	Het
Or10ak11	T	G	4: 118,687,296 (GRCm39)	T115P	probably damaging	Het
Or51a5	A	T	7: 102,771,115 (GRCm39)	M292K	possibly damaging	Het
Or52m1	A	G	7: 102,289,585 (GRCm39)	N44S	probably damaging	Het
Or8d2b	A	G	9: 38,788,673 (GRCm39)	D67G	probably damaging	Het
Palmd	T	C	3: 116,712,272 (GRCm39)	I541M	probably benign	Het
Pcsk7	A	T	9: 45,837,331 (GRCm39)	M552L	probably benign	Het
Plekhh2	A	G	17: 84,879,154 (GRCm39)	E626G	possibly damaging	Het
Pole	G	A	5: 110,460,838 (GRCm39)	D1176N	probably damaging	Het
Polr2f	T	C	15: 79,035,869 (GRCm39)	I110T	probably damaging	Het
Pomt1	A	T	2: 32,138,691 (GRCm39)	I436F	probably damaging	Het
Prag1	A	C	8: 36,570,857 (GRCm39)	Q480P	probably damaging	Het
Qars1	C	T	9: 108,387,441 (GRCm39)		probably benign	Het
Ralgapa2	G	A	2: 146,175,406 (GRCm39)	S1797L	probably damaging	Het
Rbm26	T	C	14: 105,366,039 (GRCm39)	T832A	probably damaging	Het
Rnf169	A	G	7: 99,574,976 (GRCm39)	S540P	probably benign	Het
Serpini1	T	A	3: 75,520,631 (GRCm39)	M76K	probably benign	Het
Shq1	A	G	6: 100,550,681 (GRCm39)	L419S	probably damaging	Het
Slc25a17	G	A	15: 81,211,261 (GRCm39)	T225M	probably damaging	Het
Slc6a5	C	A	7: 49,606,239 (GRCm39)	L716I	probably benign	Het
Smc1b	A	G	15: 84,951,984 (GRCm39)	V1149A	probably damaging	Het
Trappc1	A	T	11: 69,215,060 (GRCm39)	Q26L	possibly damaging	Het
Trpm2	C	A	10: 77,801,814 (GRCm39)	G84W	probably damaging	Het
Ttn	G	A	2: 76,573,010 (GRCm39)	T24215M	probably damaging	Het
Ubn2	C	A	6: 38,456,088 (GRCm39)	T337K	probably damaging	Het
Ubr4	A	G	4: 139,196,158 (GRCm39)	K1265E	probably damaging	Het
Vmn1r214	T	G	13: 23,219,491 (GRCm39)	I328M	probably damaging	Het
Xcr1	C	T	9: 123,684,922 (GRCm39)	C280Y	possibly damaging	Het
Zc3h13	A	G	14: 75,565,572 (GRCm39)	E895G	probably damaging	Het

Other mutations in Chst15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01710:Chst15	APN	7	131,872,236 (GRCm39)	missense	probably benign	0.22
IGL01879:Chst15	APN	7	131,871,994 (GRCm39)	missense	possibly damaging	0.94
IGL02355:Chst15	APN	7	131,868,401 (GRCm39)	missense	probably benign	0.26
IGL02362:Chst15	APN	7	131,868,401 (GRCm39)	missense	probably benign	0.26
IGL02826:Chst15	APN	7	131,868,475 (GRCm39)	missense	probably damaging	1.00
IGL02860:Chst15	APN	7	131,870,831 (GRCm39)	missense	probably benign
IGL02972:Chst15	APN	7	131,870,902 (GRCm39)	missense	probably damaging	1.00
IGL03266:Chst15	APN	7	131,871,805 (GRCm39)	missense	probably damaging	1.00
IGL03331:Chst15	APN	7	131,864,442 (GRCm39)	missense	probably damaging	1.00
IGL03375:Chst15	APN	7	131,872,186 (GRCm39)	nonsense	probably null
R1476:Chst15	UTSW	7	131,872,002 (GRCm39)	missense	possibly damaging	0.95
R1501:Chst15	UTSW	7	131,870,798 (GRCm39)	nonsense	probably null
R1518:Chst15	UTSW	7	131,871,855 (GRCm39)	missense	probably damaging	1.00
R1943:Chst15	UTSW	7	131,864,579 (GRCm39)	splice site	probably null
R2164:Chst15	UTSW	7	131,872,114 (GRCm39)	missense	probably damaging	0.97
R3947:Chst15	UTSW	7	131,849,604 (GRCm39)	missense	probably damaging	1.00
R4921:Chst15	UTSW	7	131,849,613 (GRCm39)	missense	probably benign	0.01
R5817:Chst15	UTSW	7	131,870,876 (GRCm39)	missense	probably damaging	0.99
R5917:Chst15	UTSW	7	131,872,246 (GRCm39)	missense	probably benign
R6930:Chst15	UTSW	7	131,870,759 (GRCm39)	missense	possibly damaging	0.95
R7159:Chst15	UTSW	7	131,871,987 (GRCm39)	missense	probably damaging	1.00
R7911:Chst15	UTSW	7	131,872,251 (GRCm39)	missense	probably benign	0.12
R8282:Chst15	UTSW	7	131,871,879 (GRCm39)	missense	probably benign
R8342:Chst15	UTSW	7	131,849,615 (GRCm39)	missense	probably benign	0.15
R9011:Chst15	UTSW	7	131,872,246 (GRCm39)	missense	probably benign
R9093:Chst15	UTSW	7	131,870,646 (GRCm39)	critical splice donor site	probably null
R9329:Chst15	UTSW	7	131,868,520 (GRCm39)	missense	possibly damaging	0.46
R9352:Chst15	UTSW	7	131,872,257 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGCCATGCCTCTGAATCTC -3'
(R):5'- CACTCCTAGTTTAGAACATTTCTGC -3'

Sequencing Primer
(F):5'- GAGAATTTCACTTCTGGATGCAGCC -3'
(R):5'- TGCTAATTGTTTTCTTTTATTGTGCC -3'

Posted On

2016-12-20