Mutagenetix > Incidental Mutation

Incidental Mutation 'R5917:Chst15'

461397

Institutional Source

Beutler Lab

Gene Symbol

Chst15

Ensembl Gene

ENSMUSG00000030930

Gene Name

carbohydrate sulfotransferase 15

Synonyms

4631426J05Rik, GalNAcS-6ST, MAd5, MAd5

MMRRC Submission

044114-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R5917 (G1)

Quality Score

145

Status

Not validated

Chromosome

Chromosomal Location

131837509-131918957 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131872246 bp (GRCm39)

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,832,516 (GRCm39)	R1153*	probably null	Het
Amdhd1	T	C	10: 93,360,332 (GRCm39)	H409R	possibly damaging	Het
Anks1b	C	T	10: 90,412,803 (GRCm39)		probably benign	Het
Ascc2	T	C	11: 4,631,506 (GRCm39)	L649P	probably benign	Het
Clec4a4	A	T	6: 122,981,017 (GRCm39)	K83N	probably benign	Het
Comp	T	A	8: 70,829,011 (GRCm39)		probably null	Het
Cryz	T	A	3: 154,327,403 (GRCm39)	S144T	probably benign	Het
Ctss	A	G	3: 95,450,424 (GRCm39)	D125G	probably benign	Het
Dact1	G	T	12: 71,365,456 (GRCm39)	V746L	possibly damaging	Het
Dhx29	A	G	13: 113,099,377 (GRCm39)	H1134R	probably damaging	Het
Dlgap4	A	G	2: 156,546,460 (GRCm39)	D376G	probably damaging	Het
Dnah3	T	A	7: 119,615,749 (GRCm39)	H1660L	probably damaging	Het
Ep300	T	A	15: 81,512,808 (GRCm39)		probably benign	Het
Fbxo30	A	T	10: 11,165,262 (GRCm39)		probably null	Het
Fcrl2	T	A	3: 87,164,094 (GRCm39)	H345L	probably damaging	Het
Galnt11	C	A	5: 25,452,670 (GRCm39)		probably null	Het
Il31ra	A	G	13: 112,682,846 (GRCm39)	C87R	probably benign	Het
Itga4	A	T	2: 79,117,442 (GRCm39)	Q416L	probably damaging	Het
Kcnt2	A	T	1: 140,461,666 (GRCm39)	T806S	probably damaging	Het
Lama2	A	G	10: 27,066,693 (GRCm39)	S1063P	probably damaging	Het
Lama4	T	A	10: 38,924,028 (GRCm39)	S479T	probably benign	Het
Lgi4	C	T	7: 30,759,603 (GRCm39)	T53M	possibly damaging	Het
Limk1	A	G	5: 134,686,789 (GRCm39)	F533L	probably damaging	Het
Loxl1	A	G	9: 58,220,006 (GRCm39)	L55P	probably damaging	Het
Map1a	A	G	2: 121,135,697 (GRCm39)	E1933G	probably damaging	Het
Matn2	T	A	15: 34,409,912 (GRCm39)	C447*	probably null	Het
Mmrn1	T	C	6: 60,950,134 (GRCm39)		probably null	Het
Or2a7	C	T	6: 43,151,646 (GRCm39)	S242F	probably damaging	Het
Or4a66	A	T	2: 88,531,049 (GRCm39)	I208N	possibly damaging	Het
Or4d1	A	T	11: 87,805,215 (GRCm39)	N172K	probably damaging	Het
Otor	A	G	2: 142,920,431 (GRCm39)	I4M	probably benign	Het
P2rx3	A	T	2: 84,865,591 (GRCm39)	V18E	probably damaging	Het
Pcdh7	T	C	5: 57,879,097 (GRCm39)	V884A	probably damaging	Het
Pcdhb4	T	A	18: 37,442,619 (GRCm39)	V643D	probably damaging	Het
Pelo	A	G	13: 115,225,930 (GRCm39)	S176P	possibly damaging	Het
Ppp2r3d	A	T	9: 101,089,183 (GRCm39)	V380E	probably benign	Het
Proc	T	A	18: 32,260,513 (GRCm39)	D204V	probably benign	Het
Prpsap2	C	T	11: 61,627,870 (GRCm39)	R202H	probably damaging	Het
Resf1	T	C	6: 149,236,179 (GRCm39)	F1500L	probably damaging	Het
Rtl1	T	G	12: 109,558,087 (GRCm39)	T1251P	possibly damaging	Het
Sema6a	T	G	18: 47,414,405 (GRCm39)	I482L	probably benign	Het
Smpdl3a	T	A	10: 57,681,654 (GRCm39)		probably null	Het
Strc	T	A	2: 121,209,790 (GRCm39)	M178L	probably benign	Het
Taok1	A	T	11: 77,451,144 (GRCm39)	M312K	probably damaging	Het
Tle2	T	C	10: 81,416,750 (GRCm39)		probably null	Het
Tle3	A	G	9: 61,316,190 (GRCm39)	D296G	probably benign	Het
Trank1	A	G	9: 111,191,485 (GRCm39)	D498G	probably benign	Het
Vars1	C	A	17: 35,231,491 (GRCm39)	L672M	probably damaging	Het
Vps13d	G	A	4: 144,826,580 (GRCm39)	T2866I	probably damaging	Het
Zfp423	C	A	8: 88,508,860 (GRCm39)	E370*	probably null	Het
Zfp521	T	A	18: 13,978,612 (GRCm39)	K600N	probably damaging	Het
Zfp788	A	G	7: 41,298,572 (GRCm39)	K351E	probably benign	Het
Zfp963	A	T	8: 70,195,510 (GRCm39)		probably null	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	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
R5817:Chst15	UTSW	7	131,870,873 (GRCm39)	missense	probably damaging	0.99
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'- AGACCAGGCTACATCGCTTC -3'
(R):5'- TGAACCAAAGACTGTGCCTC -3'

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

Posted On

2017-02-28