Mutagenetix > Incidental Mutation

Incidental Mutation 'R9011:Chst15'

685637

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

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R9011 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132235780-132317228 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132270517 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 12 (F12L)

Ref Sequence

ENSEMBL: ENSMUSP00000079105 (fasta)

Gene Model

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

AlphaFold

Q91XQ5

Predicted Effect

probably benign
Transcript: ENSMUST00000077472
AA Change: F12L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000076682
Gene: ENSMUSG00000030930
AA Change: F12L

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: F12L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000079105
Gene: ENSMUSG00000030930
AA Change: F12L

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	A	T	18: 57,667,304	I176F	possibly damaging	Het
Actr10	A	G	12: 70,952,960	T177A	probably benign	Het
Adgrb2	G	A	4: 130,022,318	D1468N	probably damaging	Het
AF067061	A	G	13: 120,264,210	T137A	probably damaging	Het
Aldh16a1	A	G	7: 45,145,527	F506S	probably damaging	Het
Ankfn1	A	T	11: 89,526,618	M56K	probably benign	Het
Atxn7l2	T	C	3: 108,207,440	S97G	probably benign	Het
Cacna1g	C	T	11: 94,415,837	G1905D	probably benign	Het
Ccne1	A	T	7: 38,106,660	M13K	probably benign	Het
Chil3	A	T	3: 106,149,715	Y304*	probably null	Het
Cldn23	T	A	8: 35,825,672	I221F	probably damaging	Het
Col16a1	T	C	4: 130,052,859	F92L	unknown	Het
Col6a3	A	T	1: 90,782,335		probably benign	Het
Cyp2w1	T	A	5: 139,354,559	V199E	possibly damaging	Het
Dmxl1	A	G	18: 49,864,173	Y512C	probably damaging	Het
Dopey1	A	T	9: 86,515,343	H900L	probably damaging	Het
Ehd1	T	C	19: 6,298,078	L362P	probably benign	Het
Eif3l	T	G	15: 79,089,525	M380R	possibly damaging	Het
Fam71a	A	C	1: 191,163,061	S462A	probably benign	Het
Fer1l5	A	T	1: 36,402,520	K605N	probably damaging	Het
Fgfbp1	T	G	5: 43,979,285	N222H	probably benign	Het
Flcn	A	G	11: 59,799,407	L273P	possibly damaging	Het
Fzd10	C	G	5: 128,602,305	P363R	probably damaging	Het
Gabpa	A	G	16: 84,841,321		probably benign	Het
Gfi1	A	G	5: 107,725,559		probably null	Het
Ift57	A	G	16: 49,759,414	Q316R	probably benign	Het
Itga11	T	C	9: 62,755,627	F542L	probably benign	Het
Kif28	G	C	1: 179,702,419	L726V	possibly damaging	Het
Krt90	A	G	15: 101,562,800	I9T	probably benign	Het
Lefty1	A	T	1: 180,937,676	M270L	probably benign	Het
Mipol1	A	T	12: 57,457,079	E344D	probably benign	Het
Mon2	A	T	10: 123,026,308	M737K	possibly damaging	Het
Mrpl14	A	G	17: 45,698,404	N143S	probably benign	Het
Nelfcd	T	A	2: 174,426,924	H589Q	probably benign	Het
Npepps	T	C	11: 97,240,931	M366V	probably damaging	Het
Olfr1448	A	T	19: 12,920,115	S65T	probably damaging	Het
Platr25	T	A	13: 62,700,466	H194L	probably damaging	Het
Plekhg4	T	C	8: 105,375,652	I127T	probably benign	Het
Ralgapa1	A	T	12: 55,605,529		probably benign	Het
Rarb	A	G	14: 16,435,140	V302A	probably damaging	Het
Rc3h1	A	C	1: 160,965,103	T1037P	probably damaging	Het
Rnaset2a	G	A	17: 8,137,928	P102S	probably damaging	Het
Scn10a	A	C	9: 119,630,094	S1166R	probably damaging	Het
Scn3a	A	G	2: 65,521,826	M380T	possibly damaging	Het
Serpinb13	A	G	1: 106,995,789	I75V	probably benign	Het
Slc35f5	G	A	1: 125,562,313	A27T	probably benign	Het
Slc45a3	G	A	1: 131,977,976	V246I	probably benign	Het
Slc7a14	G	A	3: 31,224,196	T420I	probably damaging	Het
Slc9a9	A	G	9: 94,936,440	T296A	probably benign	Het
Smyd2	G	A	1: 189,896,636	H157Y	probably damaging	Het
Spata32	T	A	11: 103,209,851	H30L	probably benign	Het
Srarp	T	C	4: 141,433,033	E163G	possibly damaging	Het
Tmed8	A	G	12: 87,174,164	I216T	probably damaging	Het
Tnni3k	A	T	3: 154,856,549	L697Q	probably damaging	Het
Tra2b	G	A	16: 22,247,190	R286C	unknown	Het
Trav7-6	A	G	14: 53,717,147	K65E	probably benign	Het
Ttn	T	C	2: 76,710,162	D34160G	possibly damaging	Het
Umad1	T	A	6: 8,373,931	C36*	probably null	Het
Ush2a	A	T	1: 188,906,479	T4029S	probably damaging	Het
Usp9y	C	T	Y: 1,316,978	S1857N	probably benign	Het
Vwa3b	A	G	1: 37,115,686	N517S	probably damaging	Het
Zfp583	G	A	7: 6,316,628	P462S	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
R9093:Chst15	UTSW	7	132268917	critical splice donor site	probably null
R9329:Chst15	UTSW	7	132266791	missense	possibly damaging	0.46
R9352:Chst15	UTSW	7	132270528	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACCAGGCTACATCGCTTC -3'
(R):5'- CCAAAGACTGTGCCTCATTCTC -3'

Sequencing Primer
(F):5'- AAAAACCCACCCCAGTTTTCATTG -3'
(R):5'- AAAGACTGTGCCTCATTCTCTAGTG -3'

Posted On

2021-10-11