Mutagenetix > Incidental Mutation

Incidental Mutation 'R2146:Chsy3'

233871

Institutional Source

Beutler Lab

Gene Symbol

Chsy3

Ensembl Gene

ENSMUSG00000058152

Gene Name

chondroitin sulfate synthase 3

Synonyms

4833446K15Rik

MMRRC Submission

040149-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59175401-59410446 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59176472 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 266 (V266I)

Ref Sequence

ENSEMBL: ENSMUSP00000079546 (fasta)

Gene Model

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

AlphaFold

Q5DTK1

Predicted Effect

probably benign
Transcript: ENSMUST00000080721
AA Change: V266I

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: V266I

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

0.2420

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (84/85)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,347,844 (GRCm38)		probably null	Het
4933406M09Rik	T	A	1: 134,390,513 (GRCm38)	M341K	probably damaging	Het
9530002B09Rik	T	A	4: 122,689,405 (GRCm38)	C13*	probably null	Het
Abca12	C	A	1: 71,263,488 (GRCm38)	V2191L	probably benign	Het
Adamts18	G	C	8: 113,845,003 (GRCm38)	A116G	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754 (GRCm38)		probably null	Het
Arfgef1	C	T	1: 10,199,878 (GRCm38)	A349T	probably benign	Het
Arhgap6	A	G	X: 168,796,500 (GRCm38)	T94A	probably benign	Het
Arhgef5	T	C	6: 43,283,318 (GRCm38)	S1413P	probably damaging	Het
Atg4c	C	A	4: 99,221,226 (GRCm38)	N143K	possibly damaging	Het
BC005561	T	C	5: 104,518,991 (GRCm38)	F460L	probably benign	Het
C1qtnf12	A	G	4: 155,966,465 (GRCm38)	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,999 (GRCm38)		probably benign	Het
Ccdc185	G	T	1: 182,747,520 (GRCm38)	H535N	possibly damaging	Het
Ccdc57	A	G	11: 120,885,225 (GRCm38)		probably benign	Het
Cd163	A	G	6: 124,309,208 (GRCm38)	H239R	probably damaging	Het
Ceacam2	G	T	7: 25,527,943 (GRCm38)	C166*	probably null	Het
Ces5a	T	A	8: 93,534,699 (GRCm38)	E33D	probably benign	Het
Chl1	T	C	6: 103,715,401 (GRCm38)		probably null	Het
Cpa5	G	T	6: 30,626,822 (GRCm38)	R251L	probably damaging	Het
Cps1	A	C	1: 67,152,379 (GRCm38)		probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236 (GRCm38)		probably null	Het
Cstf1	T	C	2: 172,375,763 (GRCm38)	Y99H	probably damaging	Het
Cyp2j11	G	A	4: 96,316,358 (GRCm38)	T317I	probably damaging	Het
Dennd3	A	T	15: 73,555,060 (GRCm38)	H762L	probably benign	Het
Dennd3	C	T	15: 73,523,496 (GRCm38)	T146M	probably damaging	Het
Dnah2	T	C	11: 69,515,761 (GRCm38)	M552V	probably benign	Het
Dnajc22	T	C	15: 99,104,383 (GRCm38)	V303A	probably benign	Het
Dtx2	T	G	5: 136,030,610 (GRCm38)	L458R	probably benign	Het
Elmsan1	G	T	12: 84,173,035 (GRCm38)	P382T	probably damaging	Het
Fat3	A	T	9: 15,990,512 (GRCm38)	F3072L	probably benign	Het
Fgf5	T	C	5: 98,275,550 (GRCm38)	*265R	probably null	Het
Fndc11	A	G	2: 181,222,125 (GRCm38)	E241G	probably damaging	Het
Glb1	T	C	9: 114,450,648 (GRCm38)	Y375H	probably damaging	Het
Gm4922	T	G	10: 18,783,516 (GRCm38)	Q486P	probably benign	Het
Gm5786	A	T	12: 59,081,298 (GRCm38)		noncoding transcript	Het
Hepacam2	A	T	6: 3,463,378 (GRCm38)		probably benign	Het
Ints9	G	A	14: 64,986,343 (GRCm38)	G89R	possibly damaging	Het
Iqcm	T	A	8: 75,888,613 (GRCm38)	W441R	probably damaging	Het
Itga10	G	T	3: 96,653,723 (GRCm38)	G635W	probably damaging	Het
Itga10	T	C	3: 96,651,492 (GRCm38)	L382P	possibly damaging	Het
Kbtbd2	A	G	6: 56,779,090 (GRCm38)	Y554H	probably damaging	Het
Kif1b	T	C	4: 149,184,309 (GRCm38)	K1649R	probably damaging	Het
L1cam	A	T	X: 73,861,141 (GRCm38)	F536Y	probably damaging	Het
Magee1	A	T	X: 105,122,958 (GRCm38)	D783V	probably damaging	Het
Marveld3	A	T	8: 109,959,802 (GRCm38)	V144E	probably benign	Het
Mcam	T	C	9: 44,136,635 (GRCm38)	V59A	probably damaging	Het
Mdga2	C	T	12: 66,868,741 (GRCm38)	E47K	probably damaging	Het
Metrn	T	A	17: 25,796,627 (GRCm38)	E38V	probably damaging	Het
Mfrp	T	C	9: 44,103,718 (GRCm38)	L314P	probably benign	Het
Mospd2	A	G	X: 164,956,477 (GRCm38)		probably null	Het
Mycbp2	G	A	14: 103,155,922 (GRCm38)	H3068Y	probably damaging	Het
Myh6	C	T	14: 54,953,771 (GRCm38)	R871H	probably damaging	Het
Nup214	C	T	2: 32,034,466 (GRCm38)	S1669F	probably damaging	Het
Olfr1104	T	A	2: 87,021,665 (GRCm38)	N293I	probably damaging	Het
Olfr1465	T	C	19: 13,314,121 (GRCm38)	T55A	probably benign	Het
Olfr156	A	G	4: 43,821,178 (GRCm38)	F61S	probably damaging	Het
Parvb	A	G	15: 84,232,168 (GRCm38)	K33E	possibly damaging	Het
Pdcd11	A	G	19: 47,104,752 (GRCm38)	M490V	probably benign	Het
Pet2	T	C	X: 89,406,277 (GRCm38)	D82G	possibly damaging	Het
Pkd2	A	C	5: 104,455,590 (GRCm38)		probably benign	Het
Reps1	T	A	10: 18,093,313 (GRCm38)	D206E	probably benign	Het
Rimkla	T	A	4: 119,474,582 (GRCm38)	M140L	possibly damaging	Het
Rnf13	T	G	3: 57,802,486 (GRCm38)	I150S	probably null	Het
Rxfp4	C	T	3: 88,652,893 (GRCm38)	A84T	probably damaging	Het
Serpinb8	T	A	1: 107,605,927 (GRCm38)	D237E	probably benign	Het
Sgo2b	T	G	8: 63,928,023 (GRCm38)	T592P	probably benign	Het
Slc35d1	A	T	4: 103,205,152 (GRCm38)	I228N	probably damaging	Het
Slc39a1	T	G	3: 90,249,450 (GRCm38)	H104Q	probably benign	Het
Slc6a6	T	C	6: 91,735,180 (GRCm38)	V230A	probably benign	Het
Slc9a3	A	G	13: 74,121,603 (GRCm38)	E30G	probably benign	Het
Slc9c1	A	G	16: 45,593,464 (GRCm38)	Y985C	probably benign	Het
Supt6	A	G	11: 78,230,932 (GRCm38)	F298S	probably damaging	Het
Tada2a	T	C	11: 84,079,629 (GRCm38)	D432G	probably damaging	Het
Tmem131	C	A	1: 36,812,609 (GRCm38)	V938L	probably benign	Het
Tnpo3	A	G	6: 29,589,036 (GRCm38)	V105A	probably benign	Het
Ttc7	T	C	17: 87,346,707 (GRCm38)		probably benign	Het
Ttn	T	C	2: 76,897,188 (GRCm38)		probably benign	Het
Usp16	T	C	16: 87,473,187 (GRCm38)		probably null	Het
Usp36	A	G	11: 118,268,665 (GRCm38)	L486S	probably benign	Het
Uty	T	C	Y: 1,239,816 (GRCm38)	I72V	probably benign	Het
Vps51	A	G	19: 6,068,134 (GRCm38)	V777A	probably benign	Het
Zfp160	A	G	17: 21,026,982 (GRCm38)	K598R	probably benign	Het
Zfp39	T	C	11: 58,890,332 (GRCm38)	N535D	probably benign	Het
Zfp804a	A	G	2: 82,258,664 (GRCm38)	T946A	probably benign	Het

Other mutations in Chsy3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Chsy3	APN	18	59,176,367 (GRCm38)	missense	probably damaging	1.00
IGL01543:Chsy3	APN	18	59,410,400 (GRCm38)	nonsense	probably null
IGL01627:Chsy3	APN	18	59,176,295 (GRCm38)	missense	probably damaging	1.00
IGL02232:Chsy3	APN	18	59,409,311 (GRCm38)	missense	possibly damaging	0.89
IGL02604:Chsy3	APN	18	59,409,115 (GRCm38)	missense	probably benign	0.00
IGL02888:Chsy3	APN	18	59,409,995 (GRCm38)	missense	probably benign	0.00
IGL03199:Chsy3	APN	18	59,176,401 (GRCm38)	missense	probably damaging	1.00
bajo	UTSW	18	59,176,166 (GRCm38)	frame shift	probably null
bajo2	UTSW	18	59,176,419 (GRCm38)	missense	probably damaging	1.00
inferior	UTSW	18	59,176,415 (GRCm38)	missense	probably damaging	1.00
P0045:Chsy3	UTSW	18	59,409,006 (GRCm38)	nonsense	probably null
R0456:Chsy3	UTSW	18	59,176,478 (GRCm38)	missense	probably damaging	1.00
R0605:Chsy3	UTSW	18	59,409,053 (GRCm38)	missense	probably damaging	0.97
R1068:Chsy3	UTSW	18	59,410,289 (GRCm38)	missense	probably damaging	1.00
R1479:Chsy3	UTSW	18	59,408,913 (GRCm38)	missense	probably benign	0.09
R1654:Chsy3	UTSW	18	59,176,416 (GRCm38)	missense	probably damaging	1.00
R1868:Chsy3	UTSW	18	59,176,488 (GRCm38)	splice site	probably null
R1938:Chsy3	UTSW	18	59,409,512 (GRCm38)	missense	probably damaging	1.00
R2114:Chsy3	UTSW	18	59,179,489 (GRCm38)	missense	probably damaging	1.00
R3693:Chsy3	UTSW	18	59,176,008 (GRCm38)	missense	possibly damaging	0.88
R3787:Chsy3	UTSW	18	59,408,998 (GRCm38)	missense	probably damaging	1.00
R3811:Chsy3	UTSW	18	59,176,170 (GRCm38)	missense	probably benign	0.42
R3878:Chsy3	UTSW	18	59,409,773 (GRCm38)	missense	probably damaging	1.00
R4385:Chsy3	UTSW	18	59,179,474 (GRCm38)	missense	possibly damaging	0.95
R4385:Chsy3	UTSW	18	59,176,352 (GRCm38)	missense	probably benign	0.00
R4512:Chsy3	UTSW	18	59,410,187 (GRCm38)	missense	probably damaging	1.00
R4734:Chsy3	UTSW	18	59,179,413 (GRCm38)	missense	probably benign	0.07
R4751:Chsy3	UTSW	18	59,175,800 (GRCm38)	missense	possibly damaging	0.66
R4982:Chsy3	UTSW	18	59,409,767 (GRCm38)	missense	possibly damaging	0.78
R4982:Chsy3	UTSW	18	59,409,575 (GRCm38)	missense	probably benign	0.07
R5032:Chsy3	UTSW	18	59,179,471 (GRCm38)	missense	probably damaging	1.00
R5088:Chsy3	UTSW	18	59,179,535 (GRCm38)	missense	probably damaging	1.00
R5220:Chsy3	UTSW	18	59,410,030 (GRCm38)	missense	probably damaging	0.99
R5257:Chsy3	UTSW	18	59,409,794 (GRCm38)	missense	possibly damaging	0.50
R5259:Chsy3	UTSW	18	59,410,246 (GRCm38)	missense	probably damaging	0.96
R5558:Chsy3	UTSW	18	59,176,397 (GRCm38)	missense	probably damaging	1.00
R5872:Chsy3	UTSW	18	59,176,196 (GRCm38)	missense	probably damaging	1.00
R5990:Chsy3	UTSW	18	59,176,166 (GRCm38)	frame shift	probably null
R5992:Chsy3	UTSW	18	59,176,166 (GRCm38)	frame shift	probably null
R6064:Chsy3	UTSW	18	59,176,166 (GRCm38)	frame shift	probably null
R6065:Chsy3	UTSW	18	59,176,166 (GRCm38)	frame shift	probably null
R6182:Chsy3	UTSW	18	59,179,342 (GRCm38)	missense	probably benign	0.00
R6881:Chsy3	UTSW	18	59,179,408 (GRCm38)	missense	probably damaging	1.00
R6985:Chsy3	UTSW	18	59,176,488 (GRCm38)	splice site	probably null
R7046:Chsy3	UTSW	18	59,409,803 (GRCm38)	missense	probably benign	0.00
R7078:Chsy3	UTSW	18	59,176,077 (GRCm38)	missense	possibly damaging	0.51
R7105:Chsy3	UTSW	18	59,176,419 (GRCm38)	missense	probably damaging	1.00
R7129:Chsy3	UTSW	18	59,410,298 (GRCm38)	missense	probably damaging	1.00
R7151:Chsy3	UTSW	18	59,409,285 (GRCm38)	missense	possibly damaging	0.55
R7224:Chsy3	UTSW	18	59,408,975 (GRCm38)	missense	probably damaging	1.00
R7860:Chsy3	UTSW	18	59,409,227 (GRCm38)	missense	probably benign	0.10
R7936:Chsy3	UTSW	18	59,409,346 (GRCm38)	missense	probably damaging	1.00
R8010:Chsy3	UTSW	18	59,410,154 (GRCm38)	missense	probably damaging	1.00
R8029:Chsy3	UTSW	18	59,179,447 (GRCm38)	missense	possibly damaging	0.87
R8215:Chsy3	UTSW	18	59,175,869 (GRCm38)	nonsense	probably null
R8332:Chsy3	UTSW	18	59,409,015 (GRCm38)	missense	probably damaging	0.98
R8375:Chsy3	UTSW	18	59,179,513 (GRCm38)	missense	probably damaging	1.00
R8560:Chsy3	UTSW	18	59,410,058 (GRCm38)	missense	possibly damaging	0.91
R8700:Chsy3	UTSW	18	59,176,415 (GRCm38)	missense	probably damaging	1.00
R9040:Chsy3	UTSW	18	59,409,688 (GRCm38)	missense	probably damaging	0.98
R9290:Chsy3	UTSW	18	59,409,856 (GRCm38)	missense	probably benign	0.00
R9413:Chsy3	UTSW	18	59,176,098 (GRCm38)	missense	possibly damaging	0.66
R9490:Chsy3	UTSW	18	59,179,414 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGAAGTACCTGGGCAGTC -3'
(R):5'- TTCAGGCTAAGAATGATGGGC -3'

Sequencing Primer
(F):5'- GTGGAGTTCTTTTCCAGTCAGCAATC -3'
(R):5'- CTAAGAATGATGGGCGGATGC -3'

Posted On

2014-10-01