Mutagenetix > Incidental Mutation

Incidental Mutation 'R9002:Chst13'

685020

Institutional Source

Beutler Lab

Gene Symbol

Chst13

Ensembl Gene

ENSMUSG00000056643

Gene Name

carbohydrate (chondroitin 4) sulfotransferase 13

Synonyms

Chst13, C4ST-3, 1110067M19Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R9002 (G1)

Quality Score

121.008

Status

Not validated

Chromosome

Chromosomal Location

90308349-90325185 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 90309524 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 152 (P152L)

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 damaging
Transcript: ENSMUST00000070890
AA Change: P152L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064897
Gene: ENSMUSG00000056643
AA Change: P152L

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

Meta Mutation Damage Score

0.1663

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,291,926	M1263K	possibly damaging	Het
Abca8b	C	T	11: 109,952,630	D985N	probably benign	Het
Ak5	A	T	3: 152,653,454	M207K	probably damaging	Het
Akt1	T	C	12: 112,659,614	I75V	probably benign	Het
Ank	T	A	15: 27,544,327	L58*	probably null	Het
Ap1g1	A	C	8: 109,855,106	T666P	probably benign	Het
Ap3b2	A	T	7: 81,467,444	S615T	probably benign	Het
Ash1l	G	T	3: 88,981,408	R198L	probably benign	Het
Axl	A	T	7: 25,778,678	C199S	probably damaging	Het
C1d	T	C	11: 17,262,787	L44S	probably damaging	Het
Col4a4	A	G	1: 82,471,311	L1186P	probably benign	Het
Ctdsp2	T	A	10: 126,996,192	I223N	probably damaging	Het
Eml1	T	A	12: 108,538,179	I799N	probably damaging	Het
Fbxw18	G	A	9: 109,690,592	T282I	probably damaging	Het
Fmo2	A	T	1: 162,878,078	C397*	probably null	Het
Gbp10	C	A	5: 105,221,981	V262L	probably benign	Het
Gm11639	A	T	11: 105,029,996	D4671V	probably damaging	Het
Gm45871	A	T	18: 90,591,844	H402L	probably damaging	Het
Has1	T	C	17: 17,843,650	S576G	unknown	Het
Hat1	C	T	2: 71,441,303	R407W	probably damaging	Het
Hivep2	G	T	10: 14,132,413	R1585L	probably benign	Het
Ifi211	A	G	1: 173,906,328	V89A	possibly damaging	Het
Igkv4-59	T	C	6: 69,438,491	T27A	possibly damaging	Het
Irf9	T	A	14: 55,607,683	N333K	possibly damaging	Het
Jakmip2	C	T	18: 43,582,258	V68I	probably benign	Het
Kif1b	T	G	4: 149,191,255	I1400L	probably damaging	Het
Kif2b	C	T	11: 91,576,227	C410Y	probably benign	Het
Klk1b16	T	C	7: 44,140,765	L153P	possibly damaging	Het
Kndc1	C	T	7: 139,927,795	S1222F	possibly damaging	Het
Lama5	A	G	2: 180,196,518	C855R	probably damaging	Het
Mast3	A	G	8: 70,781,260	L947P	probably damaging	Het
Mblac2	C	A	13: 81,711,953	A142E	possibly damaging	Het
Mppe1	A	G	18: 67,225,854	S348P	possibly damaging	Het
Mroh8	A	C	2: 157,217,019	V909G	probably damaging	Het
Mthfd1	C	T	12: 76,303,980	T712M	probably benign	Het
Nek10	T	C	14: 14,980,590	L982P	probably damaging	Het
Nlrp4b	C	T	7: 10,714,959	T363I	probably damaging	Het
Nol10	A	G	12: 17,358,133	E120G	probably damaging	Het
Olfml1	T	C	7: 107,590,216	S163P	probably damaging	Het
Olfr1104	T	C	2: 87,021,897	T216A	probably benign	Het
Olfr135	A	T	17: 38,208,664	N140Y	probably benign	Het
Olfr522	T	C	7: 140,162,285	I222V	probably damaging	Het
Olfr576	A	T	7: 102,965,411	I104F	probably damaging	Het
Olfr902	T	A	9: 38,448,875	M1K	probably null	Het
Pde6a	T	A	18: 61,285,989	L812Q	probably damaging	Het
Pdxp	T	A	15: 78,918,259	M231K	probably damaging	Het
Pi4ka	A	G	16: 17,299,453	L1368P		Het
Ppie	T	C	4: 123,130,551	N171S	possibly damaging	Het
Rimbp2	T	C	5: 128,788,292	H657R	probably benign	Het
Sarnp	T	A	10: 128,821,973		probably null	Het
Serpinb9c	T	C	13: 33,150,346	T266A	probably damaging	Het
Srgap3	T	A	6: 112,780,893	I218F	possibly damaging	Het
Susd1	C	A	4: 59,324,882	W717L	probably benign	Het
Tgfbi	A	G	13: 56,623,589	Y88C	probably damaging	Het
Tmc6	A	T	11: 117,770,482	F624Y	probably damaging	Het
Tnni2	A	G	7: 142,444,276	E172G	probably damaging	Het
Traf3ip1	T	C	1: 91,505,456	S316P	probably benign	Het
Tshr	C	A	12: 91,537,774	N495K	possibly damaging	Het
Ulk3	C	A	9: 57,593,259	A317E	probably damaging	Het
Usp24	T	C	4: 106,418,215	V2229A	possibly damaging	Het
Usp32	G	A	11: 85,053,951	R304C	probably damaging	Het
Usp40	C	T	1: 88,007,341	G28D	probably benign	Het
Vmn1r41	A	G	6: 89,747,127	K217E	possibly damaging	Het
Vmn2r73	T	A	7: 85,858,076	K676M	probably benign	Het
Vnn1	A	G	10: 23,899,451	T200A	possibly damaging	Het
Zc3hav1	A	G	6: 38,325,241	L698P	possibly 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
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'- GCAGGTAGGCCAGGAACTC -3'
(R):5'- ATCGCTTGTCGCCTGCAG -3'

Posted On

2021-10-11