Mutagenetix > Incidental Mutation

Incidental Mutation 'R5990:Chsy3'

481985

Institutional Source

Beutler Lab

Gene Symbol

Chsy3

Ensembl Gene

ENSMUSG00000058152

Gene Name

chondroitin sulfate synthase 3

Synonyms

4833446K15Rik

MMRRC Submission

044170-MU

Accession Numbers

Ncbi RefSeq: NM_001081328.1; MGI:1926173

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5990 (G1)

Quality Score

144.467

Status

Validated

Chromosome

Chromosomal Location

59175401-59410446 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

GT to G at 59176166 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

at position 163 (163)

Ref Sequence

ENSEMBL: ENSMUSP00000079546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080721]

AlphaFold

Q5DTK1

Predicted Effect

probably null
Transcript: ENSMUST00000080721
AA Change: 163

SMART Domains

Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: 163

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	60	78	N/A	INTRINSIC
low complexity region	84	96	N/A	INTRINSIC
low complexity region	125	144	N/A	INTRINSIC
Pfam:Fringe	169	410	9.4e-19	PFAM
Pfam:CHGN	330	866	1.4e-194	PFAM
Pfam:Glyco_tranf_2_2	652	841	1.8e-7	PFAM
Pfam:Glyco_transf_7C	769	839	3.2e-12	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CSS3 is a glycosyltransferase that has both glucuronyltransferase and N-acetylgalactosaminyltransferase activities (Yada et al., 2003 [PubMed 12907687]).[supplied by OMIM, Mar 2008]

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	T	10: 76,449,289	M11L	probably benign	Het
Acad10	A	G	5: 121,645,405	L319P	probably damaging	Het
Adam12	C	A	7: 133,931,736	C471F	probably damaging	Het
Arfgef1	A	G	1: 10,172,921	Y1065H	probably damaging	Het
Atp8b3	G	A	10: 80,525,697	T797M	possibly damaging	Het
Auts2	G	A	5: 131,476,895		probably benign	Het
AW209491	C	T	13: 14,637,780	A406V	probably benign	Het
Ccdc146	A	G	5: 21,318,182	S286P	probably benign	Het
Cmtr1	T	C	17: 29,702,161	Y794H	probably benign	Het
Copb2	A	G	9: 98,570,325	E54G	probably damaging	Het
Ctsk	A	T	3: 95,501,456	H77L	probably damaging	Het
Dnah3	T	C	7: 120,073,541	Y546C	probably benign	Het
Ephb2	A	T	4: 136,696,055	V304E	probably benign	Het
Ern1	C	T	11: 106,411,769	V420I	probably benign	Het
Esrrg	A	T	1: 188,198,798	E339V	probably damaging	Het
Fbxo10	A	C	4: 45,061,960	F189V	probably damaging	Het
Foxl1	G	T	8: 121,128,421	A154S	probably damaging	Het
Frs3	A	G	17: 47,701,677	D103G	possibly damaging	Het
Gdpd4	A	G	7: 98,040,930	T610A	probably benign	Het
Gm10271	A	T	10: 116,972,592	F6L	probably damaging	Het
Gm4847	C	T	1: 166,643,373	S36N	probably benign	Het
Grm8	G	T	6: 27,363,624	L631I	probably damaging	Het
Ints9	T	A	14: 65,039,328	L648Q	probably damaging	Het
Kansl1l	T	C	1: 66,735,726	H647R	probably damaging	Het
Kcnq1	T	A	7: 143,261,368	H501Q	probably damaging	Het
Kctd20	T	C	17: 28,966,910	L409P	probably benign	Het
Kiss1r	A	G	10: 79,918,707	T12A	probably benign	Het
Kndc1	T	A	7: 139,927,420	V1173E	probably damaging	Het
Kprp	T	C	3: 92,824,774	E323G	probably damaging	Het
Krtap10-4	A	T	10: 77,826,607		probably benign	Het
Lrrc37a	A	G	11: 103,500,958	Y1214H	probably benign	Het
Lysmd3	G	A	13: 81,669,588	G228D	probably damaging	Het
Muc16	G	A	9: 18,659,243	A660V	unknown	Het
Muc5b	T	C	7: 141,858,161	C1615R	unknown	Het
Nans	A	T	4: 46,489,441	N28I	probably damaging	Het
Nlrp4b	C	T	7: 10,714,491	S207L	possibly damaging	Het
Nrd1	T	G	4: 109,019,071	F355V	probably damaging	Het
Nrip2	C	T	6: 128,400,016		probably benign	Het
Nufip1	C	T	14: 76,114,188	P161L	probably damaging	Het
Ogdhl	C	T	14: 32,327,114	H114Y	possibly damaging	Het
Olfr1295	T	A	2: 111,564,674	I257F	probably damaging	Het
Olfr160	G	T	9: 37,712,110	H56Q	probably damaging	Het
Opa1	T	A	16: 29,587,018	W134R	probably damaging	Het
Parp14	G	A	16: 35,841,457	P1403S	probably benign	Het
Patl2	T	C	2: 122,124,484	D361G	probably damaging	Het
Pcx	A	G	19: 4,621,266	D1172G	probably damaging	Het
Phax	A	G	18: 56,575,603	T58A	probably benign	Het
Phf11b	T	A	14: 59,324,926	I177L	possibly damaging	Het
Pole	T	A	5: 110,302,144	V819D	probably damaging	Het
Poll	T	C	19: 45,553,155	D458G	possibly damaging	Het
Polr2m	G	A	9: 71,479,320		probably null	Het
Ppp1r9a	C	A	6: 5,134,660	H928N	probably benign	Het
Prdm2	T	C	4: 143,170,113	N102D	probably damaging	Het
Rbm45	A	T	2: 76,370,412	D95V	probably benign	Het
Rdh19	A	G	10: 127,859,594	M226V	probably benign	Het
Rev3l	T	G	10: 39,823,811	S1435A	probably benign	Het
Rgs20	A	G	1: 4,912,330	I305T	probably benign	Het
Rhobtb2	T	C	14: 69,796,369	N469S	probably damaging	Het
Rif1	C	G	2: 52,095,844	L614V	probably damaging	Het
Rps6ka1	A	G	4: 133,866,397	I177T	probably damaging	Het
Samd12	T	A	15: 53,719,623	D105V	probably damaging	Het
Setd3	A	T	12: 108,160,335	D88E	probably benign	Het
Sfmbt2	G	T	2: 10,579,381	V850L	possibly damaging	Het
Slc26a10	C	A	10: 127,178,758	A195S	possibly damaging	Het
Smcp	C	A	3: 92,584,250	A97S	unknown	Het
Stxbp5	G	A	10: 9,835,933	H248Y	probably damaging	Het
Syne2	T	C	12: 76,024,144	L4457P	probably benign	Het
Tbx3	A	G	5: 119,680,529	T390A	probably benign	Het
Tmeff2	G	A	1: 50,979,442	W194*	probably null	Het
Tmem120b	G	A	5: 123,104,481	R174Q	probably damaging	Het
Trio	A	G	15: 27,891,459	V402A	probably benign	Het
Ttll2	C	A	17: 7,352,367	G54W	possibly damaging	Het
Uba7	G	A	9: 107,981,234	V786M	probably damaging	Het
Vmn2r32	T	C	7: 7,479,810	E55G	probably damaging	Het
Wdr35	A	G	12: 9,016,511	D724G	probably damaging	Het
Xrcc1	G	A	7: 24,567,868	V381M	probably damaging	Het
Zdhhc11	T	A	13: 73,979,184	W227R	probably benign	Het
Zfp341	T	C	2: 154,645,659	S681P	probably damaging	Het
Zfp735	T	A	11: 73,690,348	D70E	possibly damaging	Het
Zmat4	G	A	8: 23,929,263	A104T	probably damaging	Het

Other mutations in Chsy3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Chsy3	APN	18	59176367	missense	probably damaging	1.00
IGL01543:Chsy3	APN	18	59410400	nonsense	probably null
IGL01627:Chsy3	APN	18	59176295	missense	probably damaging	1.00
IGL02232:Chsy3	APN	18	59409311	missense	possibly damaging	0.89
IGL02604:Chsy3	APN	18	59409115	missense	probably benign	0.00
IGL02888:Chsy3	APN	18	59409995	missense	probably benign	0.00
IGL03199:Chsy3	APN	18	59176401	missense	probably damaging	1.00
bajo	UTSW	18	59176166	frame shift	probably null
bajo2	UTSW	18	59176419	missense	probably damaging	1.00
inferior	UTSW	18	59176415	missense	probably damaging	1.00
P0045:Chsy3	UTSW	18	59409006	nonsense	probably null
R0456:Chsy3	UTSW	18	59176478	missense	probably damaging	1.00
R0605:Chsy3	UTSW	18	59409053	missense	probably damaging	0.97
R1068:Chsy3	UTSW	18	59410289	missense	probably damaging	1.00
R1479:Chsy3	UTSW	18	59408913	missense	probably benign	0.09
R1654:Chsy3	UTSW	18	59176416	missense	probably damaging	1.00
R1868:Chsy3	UTSW	18	59176488	splice site	probably null
R1938:Chsy3	UTSW	18	59409512	missense	probably damaging	1.00
R2114:Chsy3	UTSW	18	59179489	missense	probably damaging	1.00
R2146:Chsy3	UTSW	18	59176472	missense	probably benign	0.04
R3693:Chsy3	UTSW	18	59176008	missense	possibly damaging	0.88
R3787:Chsy3	UTSW	18	59408998	missense	probably damaging	1.00
R3811:Chsy3	UTSW	18	59176170	missense	probably benign	0.42
R3878:Chsy3	UTSW	18	59409773	missense	probably damaging	1.00
R4385:Chsy3	UTSW	18	59176352	missense	probably benign	0.00
R4385:Chsy3	UTSW	18	59179474	missense	possibly damaging	0.95
R4512:Chsy3	UTSW	18	59410187	missense	probably damaging	1.00
R4734:Chsy3	UTSW	18	59179413	missense	probably benign	0.07
R4751:Chsy3	UTSW	18	59175800	missense	possibly damaging	0.66
R4982:Chsy3	UTSW	18	59409575	missense	probably benign	0.07
R4982:Chsy3	UTSW	18	59409767	missense	possibly damaging	0.78
R5032:Chsy3	UTSW	18	59179471	missense	probably damaging	1.00
R5088:Chsy3	UTSW	18	59179535	missense	probably damaging	1.00
R5220:Chsy3	UTSW	18	59410030	missense	probably damaging	0.99
R5257:Chsy3	UTSW	18	59409794	missense	possibly damaging	0.50
R5259:Chsy3	UTSW	18	59410246	missense	probably damaging	0.96
R5558:Chsy3	UTSW	18	59176397	missense	probably damaging	1.00
R5872:Chsy3	UTSW	18	59176196	missense	probably damaging	1.00
R5992:Chsy3	UTSW	18	59176166	frame shift	probably null
R6064:Chsy3	UTSW	18	59176166	frame shift	probably null
R6065:Chsy3	UTSW	18	59176166	frame shift	probably null
R6182:Chsy3	UTSW	18	59179342	missense	probably benign	0.00
R6881:Chsy3	UTSW	18	59179408	missense	probably damaging	1.00
R6985:Chsy3	UTSW	18	59176488	splice site	probably null
R7046:Chsy3	UTSW	18	59409803	missense	probably benign	0.00
R7078:Chsy3	UTSW	18	59176077	missense	possibly damaging	0.51
R7105:Chsy3	UTSW	18	59176419	missense	probably damaging	1.00
R7129:Chsy3	UTSW	18	59410298	missense	probably damaging	1.00
R7151:Chsy3	UTSW	18	59409285	missense	possibly damaging	0.55
R7224:Chsy3	UTSW	18	59408975	missense	probably damaging	1.00
R7860:Chsy3	UTSW	18	59409227	missense	probably benign	0.10
R7936:Chsy3	UTSW	18	59409346	missense	probably damaging	1.00
R8010:Chsy3	UTSW	18	59410154	missense	probably damaging	1.00
R8029:Chsy3	UTSW	18	59179447	missense	possibly damaging	0.87
R8215:Chsy3	UTSW	18	59175869	nonsense	probably null
R8332:Chsy3	UTSW	18	59409015	missense	probably damaging	0.98
R8375:Chsy3	UTSW	18	59179513	missense	probably damaging	1.00
R8560:Chsy3	UTSW	18	59410058	missense	possibly damaging	0.91
R8700:Chsy3	UTSW	18	59176415	missense	probably damaging	1.00
R9040:Chsy3	UTSW	18	59409688	missense	probably damaging	0.98
R9290:Chsy3	UTSW	18	59409856	missense	probably benign	0.00
R9413:Chsy3	UTSW	18	59176098	missense	possibly damaging	0.66
R9490:Chsy3	UTSW	18	59179414	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCCCAGTTTTCGGAGCAG -3'
(R):5'- TAGGAATCGTCGACCCCTGG -3'

Sequencing Primer
(F):5'- AGTTTTCGGAGCAGCCCCTG -3'
(R):5'- TGGCAGCGCGATGACAG -3'

Posted On

2017-06-26