Mutagenetix > Incidental Mutation

Incidental Mutation 'R0605:Chsy3'

55696

Institutional Source

Beutler Lab

Gene Symbol

Chsy3

Ensembl Gene

ENSMUSG00000058152

Gene Name

chondroitin sulfate synthase 3

Synonyms

4833446K15Rik

MMRRC Submission

038794-MU

Accession Numbers

Ncbi RefSeq: NM_001081328.1; MGI:1926173

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0605 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59175401-59410446 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59409053 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 421 (Y421C)

Ref Sequence

ENSEMBL: ENSMUSP00000079546 (fasta)

Gene Model

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

AlphaFold

Q5DTK1

Predicted Effect

probably damaging
Transcript: ENSMUST00000080721
AA Change: Y421C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: Y421C

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

0.1690

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

100% (85/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	G	A	10: 20,311,227		probably benign	Het
Adam28	A	T	14: 68,606,600		probably benign	Het
Adamts3	A	G	5: 89,861,475	W110R	possibly damaging	Het
Add1	T	C	5: 34,614,224	V342A	possibly damaging	Het
Aff3	A	G	1: 38,209,987	S680P	probably damaging	Het
Ak9	T	C	10: 41,345,139	Y322H	probably damaging	Het
Als2	A	G	1: 59,168,414	L1528S	probably benign	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
Atp6v1a	A	C	16: 44,111,496		probably null	Het
Bpi	T	C	2: 158,261,394	L103P	probably damaging	Het
Cd80	G	A	16: 38,482,694	V168I	probably benign	Het
Cfh	T	C	1: 140,102,358	S926G	probably damaging	Het
Chrd	A	T	16: 20,735,439	T304S	probably damaging	Het
Cmbl	T	G	15: 31,585,309	V101G	probably damaging	Het
Colgalt2	T	A	1: 152,495,792		probably benign	Het
Coq4	C	T	2: 29,789,998	Q101*	probably null	Het
Cr2	T	C	1: 195,163,596		probably benign	Het
Cry1	T	C	10: 85,184,359	D38G	probably damaging	Het
Dmxl2	T	C	9: 54,419,945	D758G	probably benign	Het
Epsti1	C	T	14: 77,927,237		probably benign	Het
Fam24b	T	C	7: 131,327,186		probably benign	Het
Fem1c	G	A	18: 46,505,160	R592C	probably benign	Het
Foxred1	T	C	9: 35,204,882	Y490C	possibly damaging	Het
Gm14124	A	G	2: 150,268,603	I404M	unknown	Het
Gm9875	A	G	2: 13,557,888	K9R	unknown	Het
Grid2ip	T	C	5: 143,379,362	S322P	probably damaging	Het
Gucy1b2	A	G	14: 62,403,159		probably benign	Het
Hmcn1	A	T	1: 150,657,376		probably null	Het
Hpdl	C	T	4: 116,820,787	S159N	possibly damaging	Het
Hsd17b12	A	T	2: 94,033,642	M285K	probably benign	Het
Icam5	T	C	9: 21,032,197	I23T	probably benign	Het
Kat5	A	G	19: 5,608,336		probably benign	Het
Lama3	A	G	18: 12,506,949	N67S	probably benign	Het
Lamb2	T	C	9: 108,486,105		probably benign	Het
Lgals3bp	A	G	11: 118,393,394	F453S	probably damaging	Het
Lypd4	A	G	7: 24,865,375	Y113H	probably damaging	Het
Mdm1	C	T	10: 118,146,601	T47M	probably damaging	Het
Mei1	C	A	15: 82,070,150	T52K	probably benign	Het
Meiob	G	A	17: 24,818,262		probably benign	Het
Ndufaf6	A	G	4: 11,051,224	V292A	probably damaging	Het
Neb	T	A	2: 52,264,026	M2358L	possibly damaging	Het
Nlrp1b	A	G	11: 71,156,179	S1119P	possibly damaging	Het
Nsmaf	A	G	4: 6,418,470		probably null	Het
Ogfod1	T	C	8: 94,047,267		probably benign	Het
Olfr1097	T	C	2: 86,890,419	Y252C	possibly damaging	Het
Olfr1410	G	T	1: 92,607,896	V20L	probably benign	Het
Olfr291	T	C	7: 84,857,137	I256T	probably damaging	Het
Osbpl1a	T	A	18: 12,882,279		probably null	Het
Otud7b	T	A	3: 96,144,959		probably benign	Het
P3h3	T	A	6: 124,856,035	H185L	probably damaging	Het
P4htm	G	A	9: 108,583,724	A183V	probably null	Het
Peak1	C	T	9: 56,227,098		probably benign	Het
Phf20l1	A	G	15: 66,595,122	K88R	probably damaging	Het
Phlpp2	A	G	8: 109,933,211	N721S	probably benign	Het
Plagl2	T	C	2: 153,235,944	K39R	probably benign	Het
Plppr1	A	T	4: 49,323,466	N252I	probably damaging	Het
Pom121l2	C	T	13: 21,982,036	A159V	probably damaging	Het
Prom2	C	A	2: 127,539,995		probably null	Het
Prrc2c	T	C	1: 162,682,426	T1017A	probably damaging	Het
Rimbp3	G	T	16: 17,211,699	A996S	probably damaging	Het
Rnf213	A	G	11: 119,431,717	T1387A	probably benign	Het
Scaper	A	T	9: 55,815,518		probably benign	Het
Scara5	A	G	14: 65,759,648	E403G	possibly damaging	Het
Scrib	T	C	15: 76,067,553	I94V	possibly damaging	Het
Shank3	T	C	15: 89,524,147	F67L	possibly damaging	Het
Shprh	T	C	10: 11,207,112	F1562L	probably damaging	Het
Src	C	T	2: 157,469,921	T529M	probably damaging	Het
Sycp2l	T	A	13: 41,143,466	M341K	probably benign	Het
Syde1	T	C	10: 78,589,095		probably benign	Het
Tarsl2	A	T	7: 65,678,071	R509S	probably damaging	Het
Tle6	T	A	10: 81,594,346	H324L	probably damaging	Het
Tnfaip8	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	18: 50,046,845		probably benign	Het
Tnfrsf14	T	A	4: 154,925,380	K115*	probably null	Het
Trappc10	T	C	10: 78,201,497	N824S	possibly damaging	Het
Tsc1	C	T	2: 28,671,778	S309F	probably damaging	Het
Ttc21a	A	G	9: 119,961,842	I885V	possibly damaging	Het
Ttn	C	T	2: 76,740,453	A26699T	probably damaging	Het
Ttn	T	C	2: 76,948,371	Y1262C	unknown	Het
Usp49	T	C	17: 47,674,926		probably null	Het
Vmn1r226	A	T	17: 20,687,871	T122S	probably benign	Het
Vps8	A	T	16: 21,559,337	T1033S	probably benign	Het
Vwf	C	A	6: 125,685,837	T2728K	probably benign	Het
Wdr5b	T	C	16: 36,041,996	S162P	probably benign	Het
Xrn1	C	T	9: 96,026,877	Q1235*	probably null	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
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
R5990:Chsy3	UTSW	18	59176166	frame shift	probably null
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'- GCCGTTCTCTTTTCAGATGCAGCAG -3'
(R):5'- GCAGGTCCAATATGTACTCAACCCC -3'

Sequencing Primer
(F):5'- CTACGAACACAATCGCAAGG -3'
(R):5'- GTGTCATCCAGAGCTGACCTTAG -3'

Posted On

2013-07-11