Mutagenetix > Incidental Mutation

Incidental Mutation 'R7911:Chst15'

610511

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

045960-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R7911 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132235780-132317228 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132270522 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 10 (Q10R)

Ref Sequence

ENSEMBL: ENSMUSP00000076682 (fasta)

Gene Model

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

AlphaFold

Q91XQ5

Predicted Effect

probably benign
Transcript: ENSMUST00000077472
AA Change: Q10R

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000076682
Gene: ENSMUSG00000030930
AA Change: Q10R

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: Q10R

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000079105
Gene: ENSMUSG00000030930
AA Change: Q10R

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

Meta Mutation Damage Score

0.0726

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (67/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	T	A	5: 98,737,708 (GRCm38)	M158K	possibly damaging	Het
1700028K03Rik	T	C	5: 107,545,801 (GRCm38)	F95L	probably benign	Het
Abca3	C	G	17: 24,398,504 (GRCm38)	D1058E	probably damaging	Het
Abca7	C	A	10: 80,005,033 (GRCm38)	R919S	probably benign	Het
Abcc2	T	C	19: 43,803,670 (GRCm38)	S297P	probably benign	Het
Abcc8	A	G	7: 46,154,436 (GRCm38)	L438P	probably damaging	Het
Acbd6	C	A	1: 155,687,004 (GRCm38)	D250E	probably damaging	Het
Ankrd31	A	G	13: 96,879,100 (GRCm38)	N1626D	possibly damaging	Het
Arrdc4	C	T	7: 68,745,176 (GRCm38)	E112K	probably benign	Het
B3galnt1	T	A	3: 69,575,241 (GRCm38)	Y229F	probably damaging	Het
Calcrl	A	C	2: 84,351,231 (GRCm38)	I191S	probably damaging	Het
Camkmt	T	A	17: 85,452,438 (GRCm38)		probably null	Het
Card11	A	G	5: 140,882,000 (GRCm38)		probably null	Het
Cfap157	A	G	2: 32,778,207 (GRCm38)	L407P	probably damaging	Het
Col26a1	A	G	5: 136,743,098 (GRCm38)	L424P	probably damaging	Het
Cryzl2	T	C	1: 157,472,355 (GRCm38)	M308T	probably benign	Het
Ctu2	T	C	8: 122,480,994 (GRCm38)	I403T	probably benign	Het
D1Ertd622e	T	A	1: 97,645,890 (GRCm38)	H150L	probably damaging	Het
Ddhd2	A	G	8: 25,748,536 (GRCm38)		probably null	Het
Dmrt1	T	A	19: 25,603,328 (GRCm38)	L368Q	probably benign	Het
Dnah7b	C	A	1: 46,139,678 (GRCm38)	P837Q	probably damaging	Het
Drg2	T	A	11: 60,464,175 (GRCm38)	L283Q	possibly damaging	Het
Dscam	G	A	16: 96,643,922 (GRCm38)	T1523I	probably benign	Het
Farp1	T	C	14: 121,242,406 (GRCm38)	S370P	probably damaging	Het
Fbxl21	G	A	13: 56,537,163 (GRCm38)	G360D	probably damaging	Het
Fbxo39	T	C	11: 72,317,532 (GRCm38)	S237P	probably damaging	Het
Gart	G	T	16: 91,638,784 (GRCm38)	F180L	probably benign	Het
Gng4	T	C	13: 13,825,272 (GRCm38)	L42P	possibly damaging	Het
Heatr9	T	A	11: 83,512,408 (GRCm38)	D435V	probably damaging	Het
Hsh2d	A	G	8: 72,196,804 (GRCm38)	E45G	probably damaging	Het
Ighv1-74	A	G	12: 115,802,790 (GRCm38)	I70T	probably damaging	Het
Igkv1-133	T	A	6: 67,724,940 (GRCm38)	F9L	probably benign	Het
Ipo5	A	G	14: 120,929,639 (GRCm38)		probably null	Het
Jmjd1c	T	C	10: 67,231,995 (GRCm38)	V1578A	probably damaging	Het
Kcnj5	T	C	9: 32,322,221 (GRCm38)	D266G	probably damaging	Het
Klk1b9	A	T	7: 43,979,787 (GRCm38)	K206N	probably damaging	Het
Madd	C	T	2: 91,167,508 (GRCm38)	G725D	probably null	Het
Mki67	A	T	7: 135,704,604 (GRCm38)	H576Q	probably damaging	Het
Mprip	T	A	11: 59,760,855 (GRCm38)	I36N		Het
Mycbp2	T	G	14: 103,200,185 (GRCm38)	E2113D	probably damaging	Het
Narfl	A	G	17: 25,780,398 (GRCm38)	E262G	probably benign	Het
Noa1	T	C	5: 77,309,830 (GRCm38)	Y76C	probably damaging	Het
Noct	A	G	3: 51,247,648 (GRCm38)		probably benign	Het
Olfr205	C	T	16: 59,329,243 (GRCm38)	D89N	possibly damaging	Het
Pcdhga6	C	T	18: 37,709,426 (GRCm38)	S733L	not run	Het
Pdlim7	T	C	13: 55,499,106 (GRCm38)	E389G	probably damaging	Het
Ppip5k1	A	G	2: 121,342,658 (GRCm38)	Y480H	possibly damaging	Het
Prc1	T	A	7: 80,304,372 (GRCm38)	D93E	probably benign	Het
Prdm15	A	G	16: 97,812,592 (GRCm38)	M459T	probably benign	Het
Ptpn13	G	A	5: 103,541,058 (GRCm38)	A906T	probably damaging	Het
Ptpn21	T	C	12: 98,688,842 (GRCm38)	E622G	probably damaging	Het
Pum1	T	C	4: 130,774,477 (GRCm38)	V1104A	probably benign	Het
Scn2a	G	A	2: 65,682,083 (GRCm38)	R188Q	probably null	Het
Sh3pxd2b	G	A	11: 32,371,533 (GRCm38)	V31I	probably damaging	Het
Skor1	T	C	9: 63,145,046 (GRCm38)	E547G	possibly damaging	Het
Slk	C	T	19: 47,615,229 (GRCm38)	T183I		Het
Sorcs1	C	A	19: 50,144,032 (GRCm38)	D1163Y	unknown	Het
Tex14	G	A	11: 87,533,602 (GRCm38)		probably null	Het
Them5	A	G	3: 94,346,189 (GRCm38)	T169A	possibly damaging	Het
Tmem56	A	T	3: 121,228,392 (GRCm38)	I119K	probably damaging	Het
Trav5-4	T	C	14: 53,704,451 (GRCm38)	F94L	probably benign	Het
Trpc6	G	C	9: 8,656,704 (GRCm38)	G789R	probably benign	Het
Ttn	A	T	2: 76,706,751 (GRCm38)	C34944*	probably null	Het
Usp53	T	C	3: 122,961,267 (GRCm38)	M180V	probably benign	Het
Vwa3b	T	C	1: 37,154,026 (GRCm38)	S8P	probably damaging	Het
Wdr90	A	T	17: 25,850,749 (GRCm38)	M1205K	probably benign	Het
Zcwpw1	A	T	5: 137,796,770 (GRCm38)	E76V	probably null	Het

Other mutations in Chst15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01710:Chst15	APN	7	132,270,507 (GRCm38)	missense	probably benign	0.22
IGL01879:Chst15	APN	7	132,270,265 (GRCm38)	missense	possibly damaging	0.94
IGL02355:Chst15	APN	7	132,266,672 (GRCm38)	missense	probably benign	0.26
IGL02362:Chst15	APN	7	132,266,672 (GRCm38)	missense	probably benign	0.26
IGL02826:Chst15	APN	7	132,266,746 (GRCm38)	missense	probably damaging	1.00
IGL02860:Chst15	APN	7	132,269,102 (GRCm38)	missense	probably benign
IGL02972:Chst15	APN	7	132,269,173 (GRCm38)	missense	probably damaging	1.00
IGL03266:Chst15	APN	7	132,270,076 (GRCm38)	missense	probably damaging	1.00
IGL03331:Chst15	APN	7	132,262,713 (GRCm38)	missense	probably damaging	1.00
IGL03375:Chst15	APN	7	132,270,457 (GRCm38)	nonsense	probably null
R1476:Chst15	UTSW	7	132,270,273 (GRCm38)	missense	possibly damaging	0.95
R1501:Chst15	UTSW	7	132,269,069 (GRCm38)	nonsense	probably null
R1518:Chst15	UTSW	7	132,270,126 (GRCm38)	missense	probably damaging	1.00
R1943:Chst15	UTSW	7	132,262,850 (GRCm38)	splice site	probably null
R2164:Chst15	UTSW	7	132,270,385 (GRCm38)	missense	probably damaging	0.97
R3947:Chst15	UTSW	7	132,247,875 (GRCm38)	missense	probably damaging	1.00
R4921:Chst15	UTSW	7	132,247,884 (GRCm38)	missense	probably benign	0.01
R5817:Chst15	UTSW	7	132,269,147 (GRCm38)	missense	probably damaging	0.99
R5817:Chst15	UTSW	7	132,269,144 (GRCm38)	missense	probably damaging	0.99
R5917:Chst15	UTSW	7	132,270,517 (GRCm38)	missense	probably benign
R6930:Chst15	UTSW	7	132,269,030 (GRCm38)	missense	possibly damaging	0.95
R7159:Chst15	UTSW	7	132,270,258 (GRCm38)	missense	probably damaging	1.00
R8282:Chst15	UTSW	7	132,270,150 (GRCm38)	missense	probably benign
R8342:Chst15	UTSW	7	132,247,886 (GRCm38)	missense	probably benign	0.15
R9011:Chst15	UTSW	7	132,270,517 (GRCm38)	missense	probably benign
R9093:Chst15	UTSW	7	132,268,917 (GRCm38)	critical splice donor site	probably null
R9329:Chst15	UTSW	7	132,266,791 (GRCm38)	missense	possibly damaging	0.46
R9352:Chst15	UTSW	7	132,270,528 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2019-12-20