Mutagenetix > Incidental Mutation

Incidental Mutation 'R5088:Chsy3'

387610

Institutional Source

Beutler Lab

Gene Symbol

Chsy3

Ensembl Gene

ENSMUSG00000058152

Gene Name

chondroitin sulfate synthase 3

Synonyms

4833446K15Rik

MMRRC Submission

042677-MU

Accession Numbers

Ncbi RefSeq: NM_001081328.1; MGI:1926173

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5088 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59175401-59410446 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59179535 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 360 (V360D)

Ref Sequence

ENSEMBL: ENSMUSP00000079546 (fasta)

Gene Model

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

AlphaFold

Q5DTK1

Predicted Effect

probably damaging
Transcript: ENSMUST00000080721
AA Change: V360D

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

SMART Domains

Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: V360D

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

0.1550

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (72/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,736,073	C640S	probably damaging	Het
4931429L15Rik	T	C	9: 46,305,740	R246G	probably benign	Het
Aak1	T	C	6: 86,944,480		probably null	Het
Abcc5	A	G	16: 20,376,662	L695P	probably damaging	Het
Alcam	T	A	16: 52,288,927	T328S	probably damaging	Het
Alpk1	A	G	3: 127,685,320		probably benign	Het
Arel1	A	G	12: 84,924,115	L642P	probably damaging	Het
Atrip	T	C	9: 109,059,896	D741G	probably damaging	Het
Bmp1	T	C	14: 70,486,219	T726A	possibly damaging	Het
Bnip3	A	G	7: 138,894,608		probably null	Het
Cacng5	C	G	11: 107,877,389	C264S	possibly damaging	Het
Calr4	T	A	4: 109,244,662		probably benign	Het
Cdhr1	T	A	14: 37,089,465	T230S	probably benign	Het
Cdk16	T	C	X: 20,696,327		probably benign	Het
Cenpj	T	C	14: 56,553,691	E337G	probably damaging	Het
Chd9	A	G	8: 90,977,519	I694V	possibly damaging	Het
Col16a1	C	T	4: 130,079,195	T643M	probably benign	Het
Col5a1	G	A	2: 28,018,602	W67*	probably null	Het
Cyp20a1	A	T	1: 60,363,350	H198L	probably damaging	Het
Dnaic1	T	A	4: 41,597,630	S38T	probably benign	Het
Dnaic1	T	G	4: 41,632,251	S562A	probably benign	Het
Dpy19l4	G	T	4: 11,303,357	T188K	probably damaging	Het
Ergic2	A	G	6: 148,183,123	V304A	probably damaging	Het
Fam83a	A	G	15: 58,009,800	T342A	probably benign	Het
Fbxo7	A	G	10: 86,021,920		probably benign	Het
Gins4	T	C	8: 23,237,068	E3G	possibly damaging	Het
Glis3	G	A	19: 28,531,579	P335L	probably benign	Het
Golph3l	A	T	3: 95,617,190	T251S	possibly damaging	Het
Hnf4g	C	T	3: 3,657,121	A445V	probably benign	Het
Hykk	A	G	9: 54,946,479	I362V	probably benign	Het
Il6st	G	A	13: 112,490,555	V294M	probably damaging	Het
Itpr1	A	G	6: 108,389,387	I92V	probably damaging	Het
Kdm4c	T	C	4: 74,334,699	L501P	probably benign	Het
Mpi	G	A	9: 57,550,604	T105M	probably damaging	Het
Mrpl37	A	T	4: 107,064,722	L132H	probably damaging	Het
Muc5ac	A	T	7: 141,796,319	T600S	possibly damaging	Het
Npl	A	T	1: 153,509,144	I249N	possibly damaging	Het
Olfr1408	C	T	1: 173,131,039	M59I	probably damaging	Het
Olfr849	A	G	9: 19,441,771	N286S	probably damaging	Het
Pkd1	A	G	17: 24,590,838	K3497E	possibly damaging	Het
Ptprt	T	C	2: 162,238,175	N235D	probably benign	Het
Rangap1	A	C	15: 81,710,463	D388E	probably benign	Het
Rcvrn	A	T	11: 67,695,514	Q33L	probably benign	Het
Rif1	A	T	2: 52,092,295	K524I	possibly damaging	Het
Rnf139	A	T	15: 58,899,941	N605I	possibly damaging	Het
Ryr2	C	A	13: 11,712,243	G2411*	probably null	Het
Scn3a	A	T	2: 65,472,299	S1268T	probably damaging	Het
Sema6a	T	A	18: 47,249,129	I784F	probably damaging	Het
Sgms2	C	T	3: 131,330,356	V232M	probably benign	Het
Skint7	T	C	4: 111,980,430	I135T	possibly damaging	Het
Smchd1	A	T	17: 71,431,348	N507K	possibly damaging	Het
Spata31d1a	A	C	13: 59,701,152		probably null	Het
Spata7	A	T	12: 98,669,502	D527V	probably benign	Het
Srcap	A	G	7: 127,541,661	T1477A	probably benign	Het
Srl	C	A	16: 4,482,769	D375Y	probably damaging	Het
Stk4	A	T	2: 164,083,688	K58*	probably null	Het
Svep1	T	G	4: 58,120,648	H795P	possibly damaging	Het
Trak2	T	A	1: 58,935,808	Q75L	probably benign	Het
Ubxn2a	T	A	12: 4,883,904	N169I	probably damaging	Het
Vmn1r216	T	A	13: 23,099,303	L52*	probably null	Het
Vmn2r108	A	T	17: 20,470,192	N459K	possibly damaging	Het
Vstm5	A	G	9: 15,257,305	D55G	possibly damaging	Het
Wdr24	T	A	17: 25,828,207		probably null	Het
Zfp13	C	A	17: 23,577,061	E179*	probably null	Het
Zfp839	T	C	12: 110,868,176	S546P	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
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'- CTGGGCAATACTGAAGAACTTG -3'
(R):5'- TCCAGCGGCAGAGATGTAAC -3'

Sequencing Primer
(F):5'- CAATACTGAAGAACTTGGAAAGCTG -3'
(R):5'- TGTAACGGAAAGTGTGCTTAAAG -3'

Posted On

2016-06-06