Mutagenetix > Incidental Mutation

Incidental Mutation 'R6065:Chsy3'

484025

Institutional Source

Beutler Lab

Gene Symbol

Chsy3

Ensembl Gene

ENSMUSG00000058152

Gene Name

chondroitin sulfate synthase 3

Synonyms

4833446K15Rik

MMRRC Submission

044229-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6065 (G1)

Quality Score

150.467

Status

Not validated

Chromosome

Chromosomal Location

59308412-59544408 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GT to G at 59309238 bp (GRCm39)

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: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff1	T	C	5: 103,990,118 (GRCm39)	S871P	probably damaging	Het
Ccdc150	T	C	1: 54,302,758 (GRCm39)	I126T	possibly damaging	Het
Ccdc87	A	T	19: 4,891,268 (GRCm39)	M587L	probably benign	Het
Cd300ld2	G	A	11: 114,903,428 (GRCm39)		probably benign	Het
Dchs1	T	C	7: 105,404,628 (GRCm39)	D2638G	probably damaging	Het
Dnah5	A	T	15: 28,230,614 (GRCm39)	I171F	possibly damaging	Het
Dnah9	T	C	11: 65,746,164 (GRCm39)	D3983G	probably benign	Het
Dnah9	A	G	11: 66,036,223 (GRCm39)	S396P	possibly damaging	Het
Fbxw15	T	A	9: 109,397,246 (GRCm39)	D18V	probably damaging	Het
Fcnb	A	C	2: 27,969,922 (GRCm39)	C106G	probably damaging	Het
Firrm	A	T	1: 163,786,957 (GRCm39)	L704Q	probably benign	Het
Firrm	A	G	1: 163,815,257 (GRCm39)	M88T	probably damaging	Het
Gm3453	T	C	14: 5,978,233 (GRCm38)	T57A	probably damaging	Het
Grin2a	T	C	16: 9,579,771 (GRCm39)	D164G	possibly damaging	Het
Hmcn1	C	T	1: 150,646,081 (GRCm39)	V706I	probably benign	Het
Kcnj12	C	T	11: 60,960,703 (GRCm39)	L334F	probably damaging	Het
Lama3	T	C	18: 12,602,985 (GRCm39)	Y1057H	possibly damaging	Het
Mycbpap	T	C	11: 94,399,013 (GRCm39)		probably null	Het
Myo18b	A	G	5: 112,840,647 (GRCm39)	L2382P	probably benign	Het
Ngef	T	A	1: 87,405,370 (GRCm39)	N680I	probably damaging	Het
Nop2	A	G	6: 125,121,528 (GRCm39)	H770R	probably benign	Het
Pcdhgc3	A	G	18: 37,940,729 (GRCm39)	T377A	possibly damaging	Het
Prl7b1	T	C	13: 27,788,529 (GRCm39)	K109E	probably benign	Het
Ptprk	C	T	10: 28,351,166 (GRCm39)	T553I	probably damaging	Het
Rab3d	T	C	9: 21,821,815 (GRCm39)	T209A	probably benign	Het
Ralgapa1	A	G	12: 55,804,709 (GRCm39)		probably null	Het
Rspry1	T	C	8: 95,349,615 (GRCm39)	M1T	probably null	Het
Sec13	G	T	6: 113,707,793 (GRCm39)	P176T	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc4a7	C	A	14: 14,739,836 (GRCm38)	T236K	probably benign	Het
Svil	T	G	18: 5,106,724 (GRCm39)	V1855G	probably damaging	Het
Syt2	A	G	1: 134,675,295 (GRCm39)	N382S	probably benign	Het
Tm7sf2	A	G	19: 6,113,416 (GRCm39)	M345T	possibly damaging	Het
Ubr4	T	G	4: 139,148,549 (GRCm39)	C1678G	probably damaging	Het
Urb1	A	G	16: 90,600,220 (GRCm39)	S188P	probably benign	Het
Vmn2r82	A	G	10: 79,221,210 (GRCm39)	S524G	probably damaging	Het
Wdr19	A	G	5: 65,379,056 (GRCm39)	N233S	probably benign	Het

Other mutations in Chsy3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Chsy3	APN	18	59,309,439 (GRCm39)	missense	probably damaging	1.00
IGL01543:Chsy3	APN	18	59,543,472 (GRCm39)	nonsense	probably null
IGL01627:Chsy3	APN	18	59,309,367 (GRCm39)	missense	probably damaging	1.00
IGL02232:Chsy3	APN	18	59,542,383 (GRCm39)	missense	possibly damaging	0.89
IGL02604:Chsy3	APN	18	59,542,187 (GRCm39)	missense	probably benign	0.00
IGL02888:Chsy3	APN	18	59,543,067 (GRCm39)	missense	probably benign	0.00
IGL03199:Chsy3	APN	18	59,309,473 (GRCm39)	missense	probably damaging	1.00
bajo	UTSW	18	59,309,238 (GRCm39)	frame shift	probably null
bajo2	UTSW	18	59,309,491 (GRCm39)	missense	probably damaging	1.00
inferior	UTSW	18	59,309,487 (GRCm39)	missense	probably damaging	1.00
P0045:Chsy3	UTSW	18	59,542,078 (GRCm39)	nonsense	probably null
R0456:Chsy3	UTSW	18	59,309,550 (GRCm39)	missense	probably damaging	1.00
R0605:Chsy3	UTSW	18	59,542,125 (GRCm39)	missense	probably damaging	0.97
R1068:Chsy3	UTSW	18	59,543,361 (GRCm39)	missense	probably damaging	1.00
R1479:Chsy3	UTSW	18	59,541,985 (GRCm39)	missense	probably benign	0.09
R1654:Chsy3	UTSW	18	59,309,488 (GRCm39)	missense	probably damaging	1.00
R1868:Chsy3	UTSW	18	59,309,560 (GRCm39)	splice site	probably null
R1938:Chsy3	UTSW	18	59,542,584 (GRCm39)	missense	probably damaging	1.00
R2114:Chsy3	UTSW	18	59,312,561 (GRCm39)	missense	probably damaging	1.00
R2146:Chsy3	UTSW	18	59,309,544 (GRCm39)	missense	probably benign	0.04
R3693:Chsy3	UTSW	18	59,309,080 (GRCm39)	missense	possibly damaging	0.88
R3787:Chsy3	UTSW	18	59,542,070 (GRCm39)	missense	probably damaging	1.00
R3811:Chsy3	UTSW	18	59,309,242 (GRCm39)	missense	probably benign	0.42
R3878:Chsy3	UTSW	18	59,542,845 (GRCm39)	missense	probably damaging	1.00
R4385:Chsy3	UTSW	18	59,312,546 (GRCm39)	missense	possibly damaging	0.95
R4385:Chsy3	UTSW	18	59,309,424 (GRCm39)	missense	probably benign	0.00
R4512:Chsy3	UTSW	18	59,543,259 (GRCm39)	missense	probably damaging	1.00
R4734:Chsy3	UTSW	18	59,312,485 (GRCm39)	missense	probably benign	0.07
R4751:Chsy3	UTSW	18	59,308,872 (GRCm39)	missense	possibly damaging	0.66
R4982:Chsy3	UTSW	18	59,542,839 (GRCm39)	missense	possibly damaging	0.78
R4982:Chsy3	UTSW	18	59,542,647 (GRCm39)	missense	probably benign	0.07
R5032:Chsy3	UTSW	18	59,312,543 (GRCm39)	missense	probably damaging	1.00
R5088:Chsy3	UTSW	18	59,312,607 (GRCm39)	missense	probably damaging	1.00
R5220:Chsy3	UTSW	18	59,543,102 (GRCm39)	missense	probably damaging	0.99
R5257:Chsy3	UTSW	18	59,542,866 (GRCm39)	missense	possibly damaging	0.50
R5259:Chsy3	UTSW	18	59,543,318 (GRCm39)	missense	probably damaging	0.96
R5558:Chsy3	UTSW	18	59,309,469 (GRCm39)	missense	probably damaging	1.00
R5872:Chsy3	UTSW	18	59,309,268 (GRCm39)	missense	probably damaging	1.00
R5990:Chsy3	UTSW	18	59,309,238 (GRCm39)	frame shift	probably null
R5992:Chsy3	UTSW	18	59,309,238 (GRCm39)	frame shift	probably null
R6064:Chsy3	UTSW	18	59,309,238 (GRCm39)	frame shift	probably null
R6182:Chsy3	UTSW	18	59,312,414 (GRCm39)	missense	probably benign	0.00
R6881:Chsy3	UTSW	18	59,312,480 (GRCm39)	missense	probably damaging	1.00
R6985:Chsy3	UTSW	18	59,309,560 (GRCm39)	splice site	probably null
R7046:Chsy3	UTSW	18	59,542,875 (GRCm39)	missense	probably benign	0.00
R7078:Chsy3	UTSW	18	59,309,149 (GRCm39)	missense	possibly damaging	0.51
R7105:Chsy3	UTSW	18	59,309,491 (GRCm39)	missense	probably damaging	1.00
R7129:Chsy3	UTSW	18	59,543,370 (GRCm39)	missense	probably damaging	1.00
R7151:Chsy3	UTSW	18	59,542,357 (GRCm39)	missense	possibly damaging	0.55
R7224:Chsy3	UTSW	18	59,542,047 (GRCm39)	missense	probably damaging	1.00
R7860:Chsy3	UTSW	18	59,542,299 (GRCm39)	missense	probably benign	0.10
R7936:Chsy3	UTSW	18	59,542,418 (GRCm39)	missense	probably damaging	1.00
R8010:Chsy3	UTSW	18	59,543,226 (GRCm39)	missense	probably damaging	1.00
R8029:Chsy3	UTSW	18	59,312,519 (GRCm39)	missense	possibly damaging	0.87
R8215:Chsy3	UTSW	18	59,308,941 (GRCm39)	nonsense	probably null
R8332:Chsy3	UTSW	18	59,542,087 (GRCm39)	missense	probably damaging	0.98
R8375:Chsy3	UTSW	18	59,312,585 (GRCm39)	missense	probably damaging	1.00
R8560:Chsy3	UTSW	18	59,543,130 (GRCm39)	missense	possibly damaging	0.91
R8700:Chsy3	UTSW	18	59,309,487 (GRCm39)	missense	probably damaging	1.00
R9040:Chsy3	UTSW	18	59,542,760 (GRCm39)	missense	probably damaging	0.98
R9290:Chsy3	UTSW	18	59,542,928 (GRCm39)	missense	probably benign	0.00
R9413:Chsy3	UTSW	18	59,309,170 (GRCm39)	missense	possibly damaging	0.66
R9490:Chsy3	UTSW	18	59,312,486 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

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

Posted On

2017-07-14