Mutagenetix > Incidental Mutation

Incidental Mutation 'R9413:Chsy3'

711912

Institutional Source

Beutler Lab

Gene Symbol

Chsy3

Ensembl Gene

ENSMUSG00000058152

Gene Name

chondroitin sulfate synthase 3

Synonyms

4833446K15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9413 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59308412-59544408 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59309170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 141 (A141V)

Ref Sequence

ENSEMBL: ENSMUSP00000079546 (fasta)

Gene Model

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

AlphaFold

Q5DTK1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080721
AA Change: A141V

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: A141V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (35/36)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,126,422 (GRCm39)	T1194S	probably benign	Het
Akr7a5	A	T	4: 139,038,059 (GRCm39)		probably benign	Het
Ap3b2	G	T	7: 81,127,757 (GRCm39)	P140T	possibly damaging	Het
Ap3s1	T	C	18: 46,887,531 (GRCm39)		probably null	Het
Arrdc2	C	T	8: 71,288,892 (GRCm39)	R381H	probably damaging	Het
Atg13	T	C	2: 91,511,970 (GRCm39)	D286G	probably benign	Het
C1qtnf4	T	C	2: 90,720,648 (GRCm39)	F307S	probably damaging	Het
Cdk5rap1	A	T	2: 154,207,880 (GRCm39)		probably null	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
D5Ertd579e	A	G	5: 36,772,278 (GRCm39)	S706P	probably damaging	Het
Ell2	A	G	13: 75,917,705 (GRCm39)	D545G		Het
Ephb6	T	C	6: 41,591,509 (GRCm39)	L222P		Het
Flnc	G	A	6: 29,441,484 (GRCm39)	R422Q	probably benign	Het
Gm6619	A	T	6: 131,468,370 (GRCm39)	D167V	unknown	Het
Gucy2c	T	C	6: 136,700,771 (GRCm39)	D581G	possibly damaging	Het
Hectd1	G	A	12: 51,792,880 (GRCm39)	R2471*	probably null	Het
Kif1a	A	T	1: 92,949,019 (GRCm39)	M1501K	probably benign	Het
Mycbpap	A	G	11: 94,392,321 (GRCm39)	V390A	probably damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Pex3	A	G	10: 13,410,454 (GRCm39)	Y236H	probably damaging	Het
Pglyrp3	G	T	3: 91,930,106 (GRCm39)	A91S	probably damaging	Het
Ppp1ca	T	C	19: 4,244,897 (GRCm39)	S292P	probably damaging	Het
Prkci	T	C	3: 31,097,915 (GRCm39)	V455A	probably damaging	Het
Prrx1	A	G	1: 163,140,182 (GRCm39)	V8A	probably benign	Het
Psd4	C	T	2: 24,287,472 (GRCm39)	T468I	probably benign	Het
Rnf213	A	G	11: 119,357,059 (GRCm39)	E4203G		Het
Snrnp27	T	C	6: 86,653,255 (GRCm39)	D121G	possibly damaging	Het
Spag6	A	T	2: 18,739,029 (GRCm39)	M320L	probably benign	Het
Spata16	T	A	3: 26,978,486 (GRCm39)	M484K	possibly damaging	Het
Trim69	G	A	2: 122,009,083 (GRCm39)	W381*	probably null	Het
Tubgcp3	A	C	8: 12,674,885 (GRCm39)	I745S	probably damaging	Het
Ubxn2b	A	G	4: 6,204,607 (GRCm39)	D156G	probably damaging	Het
Vmn2r103	A	G	17: 20,032,158 (GRCm39)	N644S	possibly damaging	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
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
R9490:Chsy3	UTSW	18	59,312,486 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACGCGGCTCCAGTCTTTG -3'
(R):5'- CTGGAAAAGAACTCCACGCG -3'

Sequencing Primer
(F):5'- TGCTCCTACTACGGCCG -3'
(R):5'- AGAACTCCACGCGGCCAG -3'

Posted On

2022-05-16