Mutagenetix > Incidental Mutation

Incidental Mutation 'R7767:Chst13'

598292

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 #

R7767 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90308349-90325185 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 90309584 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 132 (A132V)

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

possibly damaging
Transcript: ENSMUST00000070890
AA Change: A132V

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000064897
Gene: ENSMUSG00000056643
AA Change: A132V

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	T	3: 36,920,287		probably null	Het
Aox4	C	A	1: 58,235,207	S384Y	probably damaging	Het
Arhgef15	T	C	11: 68,953,847	E308G	probably damaging	Het
Asb15	A	G	6: 24,559,282	D142G	probably benign	Het
Atg13	A	G	2: 91,679,366	S394P	probably damaging	Het
Atp10a	G	C	7: 58,658,849	W132S	probably damaging	Het
BC003331	A	G	1: 150,372,037	V387A	probably benign	Het
Bod1l	T	A	5: 41,816,756	N2405I	probably benign	Het
Capsl	C	T	15: 9,462,684	R137C	probably damaging	Het
Cd109	T	A	9: 78,710,159	M1313K	probably damaging	Het
Cobl	T	C	11: 12,412,117		probably benign	Het
Coq9	A	T	8: 94,850,586	E193V	probably benign	Het
Cpd	T	A	11: 76,813,559	I410F	probably benign	Het
Cyth3	T	G	5: 143,707,474	V351G	probably damaging	Het
Dcdc2c	T	C	12: 28,470,257	K607E		Het
Dcp1a	T	C	14: 30,479,818		probably null	Het
Dennd3	A	G	15: 73,522,230	I35V	probably benign	Het
Dlgap4	C	T	2: 156,746,053	R606W	probably damaging	Het
Dnhd1	A	G	7: 105,694,610	I1720M	probably benign	Het
Erbin	A	G	13: 103,859,399	L265P	probably damaging	Het
Ern1	T	C	11: 106,400,308	D847G	probably damaging	Het
Esyt3	T	G	9: 99,324,971	S342R	probably benign	Het
Exoc2	A	T	13: 30,876,769	I584K	probably benign	Het
Fam240a	T	C	9: 110,915,022	R50G	probably damaging	Het
Glis3	A	T	19: 28,263,960	M858K	probably benign	Het
Gls2	C	T	10: 128,195,129	R86C	unknown	Het
Gm10972	C	A	3: 94,643,594	Y25*	probably null	Het
H2-T10	A	T	17: 36,117,730	M350K	probably benign	Het
Has1	A	T	17: 17,850,530	V43D	probably damaging	Het
Herc2	T	A	7: 56,228,527	S4609R	probably benign	Het
Hmgcs2	A	C	3: 98,291,266	T162P	probably damaging	Het
Hspg2	G	T	4: 137,511,866	C368F	probably damaging	Het
Ighv11-1	A	G	12: 113,982,102	S44P	probably damaging	Het
Inppl1	A	G	7: 101,824,338	V1035A	probably benign	Het
Kmt2a	C	T	9: 44,818,998	V3341I	unknown	Het
Lrp1b	T	C	2: 40,801,505	N3434S		Het
Lrriq1	G	C	10: 103,215,954	S312R	probably damaging	Het
Map1a	G	A	2: 121,302,036	S1111N	probably damaging	Het
Myo15	T	C	11: 60,502,096	V1029A		Het
Nol11	T	C	11: 107,179,082	H314R	possibly damaging	Het
Nphs1	A	T	7: 30,463,308	D404V	probably damaging	Het
Olfr550	A	T	7: 102,571,764		probably benign	Het
Pabpc2	T	C	18: 39,774,554	Y291H	possibly damaging	Het
Pcdh15	G	A	10: 74,486,256	A1020T	probably benign	Het
Pla2g4f	A	C	2: 120,305,009	S395A	possibly damaging	Het
Ppp1r18	A	G	17: 35,867,284	Q17R	probably damaging	Het
Prokr2	A	T	2: 132,374,076	V155D	probably damaging	Het
Pwwp2a	T	G	11: 43,705,869	C620W	probably damaging	Het
Rabepk	T	C	2: 34,785,593	D175G	probably damaging	Het
Rad54l	T	C	4: 116,099,669	Y485C	probably damaging	Het
Rasef	A	G	4: 73,734,534	S577P	probably damaging	Het
Rgma	C	A	7: 73,418,004	L446I	unknown	Het
Rnf212b	T	C	14: 54,842,368	S182P	probably damaging	Het
Rnf6	C	A	5: 146,211,176	R344I	probably damaging	Het
Rnf6	T	A	5: 146,211,177	R344*	probably null	Het
Sgo1	A	G	17: 53,679,611	I184T	possibly damaging	Het
Sgpl1	A	T	10: 61,117,723	I78N	possibly damaging	Het
Snx13	T	A	12: 35,107,484	Y510N	probably damaging	Het
Sptbn2	G	A	19: 4,734,143	E638K	possibly damaging	Het
Sspo	A	G	6: 48,451,382	T349A	probably damaging	Het
Sv2c	C	T	13: 95,989,715	S343N	probably damaging	Het
Syne1	C	A	10: 5,333,560	V1502F	possibly damaging	Het
Syne1	T	A	10: 5,333,632	I1478F	possibly damaging	Het
Tmem121	C	T	12: 113,188,372	A70V	probably damaging	Het
Tmem215	A	G	4: 40,474,042	I40V	possibly damaging	Het
Trim25	A	G	11: 89,009,117		probably null	Het
Trio	A	G	15: 27,889,418	V534A	unknown	Het
Tyr	T	A	7: 87,493,010	E114V	probably benign	Het
Ush2a	A	T	1: 188,553,260	T1998S	probably benign	Het
Usp40	G	T	1: 87,982,178	A518E	probably benign	Het
Usp48	T	A	4: 137,604,645		probably null	Het
Vash1	T	A	12: 86,686,993	F152L	probably damaging	Het
Vsig10l	C	A	7: 43,463,717	P31Q	probably damaging	Het
Xab2	C	T	8: 3,619,018	E43K	probably benign	Het
Zfp423	G	A	8: 87,780,884	S944F	probably damaging	Het
Zp2	A	T	7: 120,137,169	D350E	probably benign	Het
Zscan4e	T	G	7: 11,307,534	Q165P	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
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
R9787:Chst13	UTSW	6	90309092	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCGTTGAAGGGCTCATGACG -3'
(R):5'- TAACACCACCATCGCTTGTC -3'

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

Posted On

2019-11-26