Mutagenetix > Incidental Mutation

Incidental Mutation 'R6572:Chst13'

526271

Institutional Source

Beutler Lab

Gene Symbol

Chst13

Ensembl Gene

ENSMUSG00000056643

Gene Name

carbohydrate sulfotransferase 13

Synonyms

1110067M19Rik, C4ST-3, Chst13

MMRRC Submission

044696-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6572 (G1)

Quality Score

129.008

Status

Validated

Chromosome

Chromosomal Location

90285333-90302167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 90286588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 125 (R125S)

Ref Sequence

ENSEMBL: ENSMUSP00000064897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054799] [ENSMUST00000070890] [ENSMUST00000167550]

AlphaFold

D3Z6E3

Predicted Effect

probably benign
Transcript: ENSMUST00000054799

SMART Domains

Protein: ENSMUSP00000058483
Gene: ENSMUSG00000049694

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	81	92	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000070890
AA Change: R125S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000064897
Gene: ENSMUSG00000056643
AA Change: R125S

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Sulfotransfer_2	94	328	7.5e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167550

SMART Domains

Protein: ENSMUSP00000132052
Gene: ENSMUSG00000049694

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	81	92	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

97% (62/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to the C4 hydroxyl of beta-1,4-linked N-acetylgalactosamine (GalNAc) flanked by glucuronic acid residue in chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	T	15: 37,425,961 (GRCm39)	Q34*	probably null	Het
Adamts3	T	A	5: 90,009,468 (GRCm39)	H65L	possibly damaging	Het
Ago2	A	G	15: 72,998,826 (GRCm39)	V257A	probably benign	Het
Ahnak	A	G	19: 8,985,340 (GRCm39)	K2208R	probably damaging	Het
Apc2	C	T	10: 80,147,613 (GRCm39)	S860L	probably damaging	Het
Arhgap18	A	G	10: 26,722,412 (GRCm39)		probably null	Het
Arhgap33	T	C	7: 30,226,635 (GRCm39)	E524G	probably damaging	Het
Ascc3	C	T	10: 50,566,343 (GRCm39)	Q763*	probably null	Het
Atg2a	T	C	19: 6,304,695 (GRCm39)	L1184P	probably damaging	Het
Baiap2l1	A	G	5: 144,223,112 (GRCm39)	L75P	probably damaging	Het
Btbd17	A	T	11: 114,683,046 (GRCm39)	L222Q	probably damaging	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,481,655 (GRCm39)		probably null	Het
Cracr2a	T	C	6: 127,585,715 (GRCm39)		probably null	Het
Dchs1	T	A	7: 105,408,013 (GRCm39)	T1940S	possibly damaging	Het
Ddit4l	G	T	3: 137,332,111 (GRCm39)	R159L	probably benign	Het
Dock3	A	G	9: 106,866,674 (GRCm39)	Y679H	probably damaging	Het
Dyrk4	T	G	6: 126,874,201 (GRCm39)	I130L	probably benign	Het
Eml2	T	C	7: 18,930,539 (GRCm39)	V373A	possibly damaging	Het
Entrep1	A	T	19: 23,962,082 (GRCm39)	M307K	possibly damaging	Het
Ephb1	A	G	9: 101,944,097 (GRCm39)	F312L	probably benign	Het
Fndc9	A	T	11: 46,128,708 (GRCm39)	I76F	probably damaging	Het
Frk	G	A	10: 34,459,963 (GRCm39)	R186K	probably benign	Het
Gpatch3	G	T	4: 133,302,191 (GRCm39)	G41C	probably damaging	Het
Greb1l	T	A	18: 10,522,131 (GRCm39)	H633Q	probably benign	Het
Gstt4	T	A	10: 75,650,954 (GRCm39)	T223S	probably damaging	Het
Hpd	C	T	5: 123,318,739 (GRCm39)	E60K	probably benign	Het
Inpp5d	C	T	1: 87,623,118 (GRCm39)	P403S	probably damaging	Het
Klk1b9	T	A	7: 43,629,159 (GRCm39)	I189K	probably benign	Het
Kmt2e	A	T	5: 23,702,579 (GRCm39)	H239L	possibly damaging	Het
Lrriq3	A	G	3: 154,887,312 (GRCm39)	D344G	probably benign	Het
Neb	A	G	2: 52,168,859 (GRCm39)	I1892T	probably damaging	Het
Neto2	A	T	8: 86,397,033 (GRCm39)	I73N	possibly damaging	Het
Nipal3	A	T	4: 135,174,564 (GRCm39)	S396T	probably benign	Het
Or1e35	A	G	11: 73,797,629 (GRCm39)	S230P	possibly damaging	Het
Or51q1c	T	A	7: 103,648,391 (GRCm39)		probably null	Het
Phf20l1	T	A	15: 66,481,396 (GRCm39)	V264D	probably damaging	Het
Pigs	A	G	11: 78,230,190 (GRCm39)	Y319C	probably damaging	Het
Pkd2l2	T	C	18: 34,571,824 (GRCm39)	Y608H	probably damaging	Het
Ppard	G	T	17: 28,516,093 (GRCm39)	E106*	probably null	Het
Pramel11	C	T	4: 143,621,943 (GRCm39)	V471I	possibly damaging	Het
Pramel16	A	G	4: 143,676,262 (GRCm39)	S281P	probably benign	Het
Psenen	T	C	7: 30,261,773 (GRCm39)	T48A	probably benign	Het
Ralgps2	A	T	1: 156,651,620 (GRCm39)		probably null	Het
Ripk4	T	A	16: 97,547,105 (GRCm39)	R323*	probably null	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Scgb2b24	T	A	7: 33,437,902 (GRCm39)	E68D	probably damaging	Het
Setx	A	G	2: 29,063,706 (GRCm39)	D2334G	possibly damaging	Het
Sh3bp4	A	G	1: 89,072,643 (GRCm39)	D497G	possibly damaging	Het
Smarca2	A	T	19: 26,656,573 (GRCm39)	I850F	possibly damaging	Het
Smyd1	A	G	6: 71,202,396 (GRCm39)	Y270H	probably damaging	Het
Spidr	T	A	16: 15,730,380 (GRCm39)		probably null	Het
Srms	T	C	2: 180,854,450 (GRCm39)	D39G	probably benign	Het
Trpc2	T	A	7: 101,739,213 (GRCm39)	I528N	probably damaging	Het
Tshr	A	G	12: 91,505,134 (GRCm39)	I691V	probably benign	Het
Urb1	A	C	16: 90,584,302 (GRCm39)	V560G	probably benign	Het
Usp37	A	G	1: 74,534,941 (GRCm39)	S2P	possibly damaging	Het
Vmn1r60	G	A	7: 5,547,599 (GRCm39)	S167F	probably benign	Het
Vmn2r89	G	A	14: 51,693,450 (GRCm39)	V267I	probably damaging	Het
Washc3	T	A	10: 88,049,568 (GRCm39)	D63E	probably benign	Het
Wdr89	A	G	12: 75,680,159 (GRCm39)	S32P	probably damaging	Het
Zfp157	T	C	5: 138,455,313 (GRCm39)	S504P	possibly damaging	Het

Other mutations in Chst13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03264:Chst13	APN	6	90,286,193 (GRCm39)	nonsense	probably null
E0374:Chst13	UTSW	6	90,286,174 (GRCm39)	nonsense	probably null
PIT4520001:Chst13	UTSW	6	90,286,167 (GRCm39)	missense	probably benign	0.19
R2301:Chst13	UTSW	6	90,295,271 (GRCm39)	missense	probably damaging	1.00
R2849:Chst13	UTSW	6	90,286,140 (GRCm39)	missense	probably benign	0.00
R3522:Chst13	UTSW	6	90,295,245 (GRCm39)	missense	probably damaging	1.00
R5068:Chst13	UTSW	6	90,286,551 (GRCm39)	missense	possibly damaging	0.69
R5560:Chst13	UTSW	6	90,295,251 (GRCm39)	missense	probably damaging	1.00
R5888:Chst13	UTSW	6	90,286,554 (GRCm39)	missense	probably benign	0.37
R6306:Chst13	UTSW	6	90,286,260 (GRCm39)	missense	probably damaging	0.99
R6393:Chst13	UTSW	6	90,302,063 (GRCm39)	missense	possibly damaging	0.91
R7611:Chst13	UTSW	6	90,285,999 (GRCm39)	missense	probably damaging	1.00
R7767:Chst13	UTSW	6	90,286,566 (GRCm39)	missense	possibly damaging	0.91
R7880:Chst13	UTSW	6	90,302,062 (GRCm39)	missense	possibly damaging	0.91
R9002:Chst13	UTSW	6	90,286,506 (GRCm39)	missense	probably damaging	1.00
R9010:Chst13	UTSW	6	90,286,506 (GRCm39)	missense	probably damaging	1.00
R9288:Chst13	UTSW	6	90,286,506 (GRCm39)	missense	probably damaging	1.00
R9295:Chst13	UTSW	6	90,286,506 (GRCm39)	missense	probably damaging	1.00
R9296:Chst13	UTSW	6	90,286,506 (GRCm39)	missense	probably damaging	1.00
R9318:Chst13	UTSW	6	90,286,506 (GRCm39)	missense	probably damaging	1.00
R9319:Chst13	UTSW	6	90,286,506 (GRCm39)	missense	probably damaging	1.00
R9397:Chst13	UTSW	6	90,286,506 (GRCm39)	missense	probably damaging	1.00
R9461:Chst13	UTSW	6	90,286,506 (GRCm39)	missense	probably damaging	1.00
R9480:Chst13	UTSW	6	90,286,506 (GRCm39)	missense	probably damaging	1.00
R9481:Chst13	UTSW	6	90,286,506 (GRCm39)	missense	probably damaging	1.00
R9521:Chst13	UTSW	6	90,286,506 (GRCm39)	missense	probably damaging	1.00
R9522:Chst13	UTSW	6	90,286,506 (GRCm39)	missense	probably damaging	1.00
R9749:Chst13	UTSW	6	90,295,251 (GRCm39)	missense	probably damaging	1.00
R9787:Chst13	UTSW	6	90,286,074 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCGTTGAAGGGCTCATGAC -3'
(R):5'- TAACACCACCATCGCTTGTCG -3'

Sequencing Primer
(F):5'- ACGATGCGTGTGCCATAG -3'
(R):5'- ATCGCTTGTCGCCTGCAG -3'

Posted On

2018-06-22