Mutagenetix > Incidental Mutations

Incidental Mutation 'R9329:Chst15'

706725

Institutional Source

Beutler Lab

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: 0.070) question?

Stock #

R9329 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132235780-132317228 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132266791 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 300 (L300P)

Ref Sequence

ENSEMBL: ENSMUSP00000076682 (fasta)

Gene Model

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

AlphaFold

Q91XQ5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077472
AA Change: L300P

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000076682
Gene: ENSMUSG00000030930
AA Change: L300P

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

possibly damaging
Transcript: ENSMUST00000080215
AA Change: L300P

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000079105
Gene: ENSMUSG00000030930
AA Change: L300P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	G	6: 83,156,574	M1R	probably null	Het
4932415D10Rik	G	A	10: 82,285,605	S3857L	probably benign	Het
Acap2	T	C	16: 31,127,420	D235G	probably damaging	Het
Adgrv1	C	A	13: 81,499,122	V3100F	probably damaging	Het
Aff4	A	G	11: 53,397,859	T401A	probably damaging	Het
Apcs	T	C	1: 172,894,824	T22A	probably benign	Het
Atf7ip2	T	C	16: 10,241,874	V426A	possibly damaging	Het
Bach2	A	G	4: 32,562,175	D214G	possibly damaging	Het
Baz2a	C	T	10: 128,125,056	A1578V	possibly damaging	Het
Camk1d	T	C	2: 5,445,143	I76V	probably benign	Het
Ccdc182	A	T	11: 88,294,498	M135L	probably benign	Het
Cd47	C	T	16: 49,896,368	T201I		Het
Chodl	T	C	16: 78,949,142	S290P	possibly damaging	Het
Ciita	T	C	16: 10,506,707	S168P	probably damaging	Het
Cntn2	C	T	1: 132,528,940	V123I	probably benign	Het
Cyld	T	A	8: 88,730,720	L527Q	probably benign	Het
Dbn1	T	A	13: 55,483,428	Y34F	probably damaging	Het
Enc1	C	A	13: 97,246,510	Y509*	probably null	Het
Ermard	A	T	17: 15,053,381	E409D	probably benign	Het
Extl3	T	C	14: 65,077,316	E139G	possibly damaging	Het
Fa2h	A	T	8: 111,355,483	V177E	possibly damaging	Het
Flot2	T	C	11: 78,058,946	I367T	probably damaging	Het
Fras1	T	C	5: 96,736,954	Y2564H	probably damaging	Het
Fxyd3	A	G	7: 31,073,593	V10A	probably benign	Het
Gfra3	A	G	18: 34,704,507	L146P	probably damaging	Het
Gm49359	T	C	13: 62,454,634	N251D	probably benign	Het
Hps6	A	G	19: 46,004,103	S160G	probably benign	Het
Hsd17b7	C	A	1: 169,967,306	A55S	probably damaging	Het
Hspa12a	T	C	19: 58,800,866	D446G	probably benign	Het
Htt	G	A	5: 34,832,613	R1163Q	possibly damaging	Het
Ift81	T	C	5: 122,559,770		probably null	Het
Ighv5-15	T	G	12: 113,826,775	Y75S	probably benign	Het
Kcnd2	T	A	6: 21,725,982	H491Q	probably damaging	Het
Lamb3	C	A	1: 193,332,357	T608K	probably benign	Het
Lrtm2	T	A	6: 119,320,451	K210*	probably null	Het
Med13	G	T	11: 86,298,457	P1209T	probably benign	Het
Mtus1	G	A	8: 41,084,202	T159I	probably damaging	Het
Myt1l	A	G	12: 29,851,660	M805V	unknown	Het
Neb	G	T	2: 52,270,219	L2261I	probably benign	Het
Nlrp4c	G	A	7: 6,065,499	R133H	probably benign	Het
Nol11	A	T	11: 107,180,939	L276Q	probably damaging	Het
Nrap	A	G	19: 56,361,845	Y614H	probably damaging	Het
Olfr656	A	G	7: 104,618,498	H273R	probably damaging	Het
Pou2f3	A	G	9: 43,128,929	S355P	probably damaging	Het
Ppm1l	C	A	3: 69,553,120	N343K	probably damaging	Het
Prh1	A	T	6: 132,571,610	I27F	unknown	Het
Prkrip1	A	T	5: 136,194,349	L85Q	probably damaging	Het
Pycrl	C	T	15: 75,918,714	V99I	probably benign	Het
R3hdm4	T	A	10: 79,913,559	N72I	probably damaging	Het
Rab11fip3	G	T	17: 26,012,058	H738N	probably benign	Het
Rtl1	G	A	12: 109,590,239	A1722V	possibly damaging	Het
Sell	A	G	1: 164,065,553	N113D	probably damaging	Het
Smarcal1	T	C	1: 72,626,538	S732P	probably damaging	Het
Smurf2	A	T	11: 106,852,598	D207E	probably benign	Het
Tat	C	T	8: 109,996,878	R333C	probably benign	Het
Tmem121b	A	T	6: 120,492,273	F494L	probably damaging	Het
Tmem198	C	A	1: 75,479,878	P89Q	probably damaging	Het
Tnks2	T	G	19: 36,857,884	C2G	probably damaging	Het
Trappc9	T	C	15: 72,801,353	E869G	unknown	Het
Trim42	T	A	9: 97,369,531	K105M	probably benign	Het
Ttll3	T	C	6: 113,392,674	S60P	probably benign	Het
Ttll4	T	A	1: 74,685,962	I625N	possibly damaging	Het
Tubgcp5	T	A	7: 55,829,433		probably null	Het
Txlnb	A	T	10: 17,806,846	Y172F	probably damaging	Het
Ube2e3	A	T	2: 78,913,691	D88V	possibly damaging	Het
Vmn1r189	T	A	13: 22,102,260	I136L	probably benign	Het
Vmn2r71	A	G	7: 85,618,742	I135V	probably benign	Het
Vmn2r73	T	A	7: 85,869,865	R516S	probably benign	Het
Wrn	C	T	8: 33,240,978	E1352K	probably benign	Het
Zfp318	T	C	17: 46,411,213	S1381P	probably damaging	Het
Zfp747	A	T	7: 127,374,483	Y172N	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
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
R8282:Chst15	UTSW	7	132270150	missense	probably benign
R8342:Chst15	UTSW	7	132247886	missense	probably benign	0.15
R9011:Chst15	UTSW	7	132270517	missense	probably benign
R9093:Chst15	UTSW	7	132268917	critical splice donor site	probably null
R9352:Chst15	UTSW	7	132270528	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGAGTCTGCTTCTGCCAGC -3'
(R):5'- ATGTACACGTTGAAGCAGGCAG -3'

Sequencing Primer
(F):5'- AGCTCCCCTGAAGGTACC -3'
(R):5'- GGCATTGACAGAGCTCTCCATC -3'

Posted On

2022-04-18