Mutagenetix > Incidental Mutation

Incidental Mutation 'R9787:Chst13'

734397

Institutional Source

Beutler Lab

Gene Symbol

Chst13

Ensembl Gene

ENSMUSG00000056643

Gene Name

carbohydrate (chondroitin 4) sulfotransferase 13

Synonyms

Chst13, C4ST-3, 1110067M19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R9787 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90308349-90325185 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 90309092 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 296 (R296H)

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: R296H

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000064897
Gene: ENSMUSG00000056643
AA Change: R296H

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: 99.9%
3x: 99.8%
10x: 99.3%
20x: 97.9%

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,501,271	T26A	probably benign	Het
Arhgap27	A	G	11: 103,339,222	S239P	possibly damaging	Het
Bambi	T	C	18: 3,511,515	V112A	possibly damaging	Het
BC034090	T	A	1: 155,242,209	E54D	possibly damaging	Het
BC052040	T	A	2: 115,674,755	L169Q	probably damaging	Het
Clip2	C	T	5: 134,504,762	R487Q	probably benign	Het
Ctbs	T	A	3: 146,454,354	V46E	probably damaging	Het
Cyp2b9	A	G	7: 26,200,834	I356V	probably benign	Het
Dot1l	A	G	10: 80,764,638	T40A	probably benign	Het
Dst	C	T	1: 34,180,443	T1988M	probably benign	Het
Fam184a	T	A	10: 53,750,768	D38V	possibly damaging	Het
Fank1	T	A	7: 133,862,158	F83I	probably damaging	Het
Fto	T	A	8: 91,485,258	W404R	probably damaging	Het
Gabra4	T	A	5: 71,633,661	R279S	possibly damaging	Het
Garem2	C	T	5: 30,114,221	P227L	probably damaging	Het
Gfra4	C	A	2: 131,042,680	M1I	probably null	Het
Gin1	T	A	1: 97,775,486	H11Q	probably damaging	Het
Gli3	G	A	13: 15,725,801	G1258R	probably damaging	Het
Gsx1	T	C	5: 147,189,867	S167P	probably damaging	Het
Gtf2b	AATCATC	AATC	3: 142,771,417		probably benign	Het
Il7	G	A	3: 7,576,111	R82C	probably damaging	Het
Lair1	A	T	7: 4,010,795	V151E	probably damaging	Het
Lpar1	T	C	4: 58,437,349	D360G	probably benign	Het
Malrd1	T	A	2: 15,620,590	N345K	unknown	Het
Mbnl1	T	A	3: 60,595,665	N82K	probably damaging	Het
Mtdh	C	A	15: 34,123,698	T357N	probably benign	Het
Muc6	T	A	7: 141,641,481	K1306*	probably null	Het
Nsd1	T	A	13: 55,313,705	C2685S	probably benign	Het
Olfr2	A	T	7: 107,001,692	L56H	probably damaging	Het
Optn	T	A	2: 5,031,339	Q444L	probably damaging	Het
Pan2	T	A	10: 128,308,354	D157E	probably benign	Het
Pole	G	A	5: 110,318,000		probably null	Het
Stau2	A	T	1: 16,460,371	I108N	unknown	Het
Sugp2	A	G	8: 70,242,778	K134E	probably benign	Het
Tcaf3	C	T	6: 42,597,090	V63I	probably benign	Het
Tcf7	T	A	11: 52,282,946		probably benign	Het
Ttn	C	T	2: 76,885,013	E7912K	unknown	Het
Tubb2b	T	C	13: 34,128,426	D128G	probably benign	Het
Umodl1	A	T	17: 30,959,350	Q100L	probably damaging	Het
Unc79	T	A	12: 103,146,361	N2230K	probably benign	Het
Zc3hav1l	T	C	6: 38,295,166	T223A	probably benign	Het
Zfhx4	G	A	3: 5,390,446	D1167N	possibly damaging	Het
Zfp36	A	T	7: 28,377,919	L200Q	probably damaging	Het
Zswim9	T	A	7: 13,260,278	L650F	probably damaging	Het

Other mutations in Chst13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03264:Chst13	APN	6	90309211	nonsense	probably null
E0374:Chst13	UTSW	6	90309192	nonsense	probably null
PIT4520001:Chst13	UTSW	6	90309185	missense	probably benign	0.19
R2301:Chst13	UTSW	6	90318289	missense	probably damaging	1.00
R2849:Chst13	UTSW	6	90309158	missense	probably benign	0.00
R3522:Chst13	UTSW	6	90318263	missense	probably damaging	1.00
R5068:Chst13	UTSW	6	90309569	missense	possibly damaging	0.69
R5560:Chst13	UTSW	6	90318269	missense	probably damaging	1.00
R5888:Chst13	UTSW	6	90309572	missense	probably benign	0.37
R6306:Chst13	UTSW	6	90309278	missense	probably damaging	0.99
R6393:Chst13	UTSW	6	90325081	missense	possibly damaging	0.91
R6572:Chst13	UTSW	6	90309606	missense	probably benign	0.00
R7611:Chst13	UTSW	6	90309017	missense	probably damaging	1.00
R7767:Chst13	UTSW	6	90309584	missense	possibly damaging	0.91
R7880:Chst13	UTSW	6	90325080	missense	possibly damaging	0.91
R9002:Chst13	UTSW	6	90309524	missense	probably damaging	1.00
R9010:Chst13	UTSW	6	90309524	missense	probably damaging	1.00
R9288:Chst13	UTSW	6	90309524	missense	probably damaging	1.00
R9295:Chst13	UTSW	6	90309524	missense	probably damaging	1.00
R9296:Chst13	UTSW	6	90309524	missense	probably damaging	1.00
R9318:Chst13	UTSW	6	90309524	missense	probably damaging	1.00
R9319:Chst13	UTSW	6	90309524	missense	probably damaging	1.00
R9397:Chst13	UTSW	6	90309524	missense	probably damaging	1.00
R9461:Chst13	UTSW	6	90309524	missense	probably damaging	1.00
R9480:Chst13	UTSW	6	90309524	missense	probably damaging	1.00
R9481:Chst13	UTSW	6	90309524	missense	probably damaging	1.00
R9521:Chst13	UTSW	6	90309524	missense	probably damaging	1.00
R9522:Chst13	UTSW	6	90309524	missense	probably damaging	1.00
R9749:Chst13	UTSW	6	90318269	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTGGATAAGGTCTCCAATCCAC -3'
(R):5'- CTTCAACGAACACTGGGAGC -3'

Sequencing Primer
(F):5'- ACCAGGTTCGTTCCAGACC -3'
(R):5'- GATAGCAGATGATGCTGC -3'

Posted On

2022-11-14