Mutagenetix > Incidental Mutation

Incidental Mutation 'R6064:Chsy3'

483989

Institutional Source

Beutler Lab

Gene Symbol

Chsy3

Ensembl Gene

ENSMUSG00000058152

Gene Name

chondroitin sulfate synthase 3

Synonyms

4833446K15Rik

MMRRC Submission

044228-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6064 (G1)

Quality Score

195.468

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: 99.5%
10x: 97.7%
20x: 93.0%

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	C	T	5: 50,117,667 (GRCm39)	D1294N	probably damaging	Het
Atf1	A	G	15: 100,150,029 (GRCm39)	T92A	probably benign	Het
Bach1	A	G	16: 87,526,752 (GRCm39)	D738G	probably damaging	Het
Catsper3	T	C	13: 55,954,065 (GRCm39)	F278L	probably damaging	Het
Cmya5	T	A	13: 93,226,157 (GRCm39)	N2977I	probably damaging	Het
Cnbd1	T	A	4: 18,895,084 (GRCm39)	E219D	probably benign	Het
Dst	A	G	1: 34,233,132 (GRCm39)	D3556G	probably damaging	Het
Duox1	A	G	2: 122,151,243 (GRCm39)	E306G	probably benign	Het
Fstl5	T	A	3: 76,229,605 (GRCm39)	F135L	probably benign	Het
Fyb1	A	C	15: 6,668,349 (GRCm39)	K514T	probably damaging	Het
Gsap	T	A	5: 21,434,223 (GRCm39)	C280S	possibly damaging	Het
Lrig1	T	C	6: 94,603,428 (GRCm39)	E240G	probably damaging	Het
Macc1	A	T	12: 119,409,400 (GRCm39)	H56L	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Muc6	T	C	7: 141,234,640 (GRCm39)	R696G	probably damaging	Het
Nup210	T	C	6: 91,032,273 (GRCm39)	I32V	probably benign	Het
Or52n2c	C	T	7: 104,574,599 (GRCm39)	R124H	probably benign	Het
Or5d16	A	G	2: 87,773,828 (GRCm39)	M48T	probably benign	Het
Or5h17	T	G	16: 58,820,186 (GRCm39)	I46S	probably damaging	Het
Ovch2	T	C	7: 107,395,779 (GRCm39)	T80A	probably damaging	Het
Rad51ap2	T	A	12: 11,507,418 (GRCm39)	Y447N	possibly damaging	Het
Rb1cc1	A	G	1: 6,319,958 (GRCm39)	T1126A	probably benign	Het
Scgb1b10	T	C	7: 31,800,627 (GRCm39)	L72S	probably damaging	Het
Slc25a33	A	G	4: 149,836,921 (GRCm39)	V141A	probably benign	Het
Tbx21	T	C	11: 97,005,737 (GRCm39)	Y76C	probably damaging	Het
Tmem235	T	C	11: 117,753,764 (GRCm39)	V107A	possibly damaging	Het
Vnn1	G	T	10: 23,770,807 (GRCm39)	A12S	probably benign	Het
Zfp606	T	G	7: 12,214,960 (GRCm39)	W63G	possibly damaging	Het
Zfp788	T	A	7: 41,297,878 (GRCm39)	F119L	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
R6065: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'- GTCCCAGTTTTCGGAGCAGC -3'
(R):5'- GTAGGAATCGTCGACCCCTG -3'

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

Posted On

2017-07-14