Mutagenetix > Incidental Mutation

Incidental Mutation 'R3693:Chsy3'

268880

Institutional Source

Beutler Lab

Gene Symbol

Chsy3

Ensembl Gene

ENSMUSG00000058152

Gene Name

chondroitin sulfate synthase 3

Synonyms

4833446K15Rik

MMRRC Submission

040688-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3693 (G1)

Quality Score

107

Status

Validated

Chromosome

Chromosomal Location

59308412-59544408 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59309080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 111 (Q111L)

Ref Sequence

ENSEMBL: ENSMUSP00000079546 (fasta)

Gene Model

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

AlphaFold

Q5DTK1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080721
AA Change: Q111L

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: Q111L

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

0.0589

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

97% (37/38)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010106E10Rik	A	T	X: 111,466,012 (GRCm39)	L187F	probably damaging	Het
Ankrd29	G	A	18: 12,387,757 (GRCm39)	A275V	possibly damaging	Het
Cabp2	A	G	19: 4,133,593 (GRCm39)	T12A	probably benign	Het
Ccdc158	T	C	5: 92,757,904 (GRCm39)	E1056G	probably damaging	Het
Cdhr2	A	G	13: 54,874,229 (GRCm39)	Y767C	probably damaging	Het
Ces2e	A	G	8: 105,655,443 (GRCm39)	D122G	probably damaging	Het
Cherp	TTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTG	8: 73,221,755 (GRCm39)		probably benign	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Cyp11b2	C	T	15: 74,727,857 (GRCm39)	R75Q	probably benign	Het
Dnaja2	T	C	8: 86,273,249 (GRCm39)	K223E	probably damaging	Het
Dtx3	T	C	10: 127,027,293 (GRCm39)	I294V	probably benign	Het
Eps15l1	A	G	8: 73,152,904 (GRCm39)		probably benign	Het
Exd2	A	G	12: 80,527,467 (GRCm39)	Y220C	probably damaging	Het
Eya1	A	G	1: 14,299,725 (GRCm39)	Y343H	probably damaging	Het
Hif3a	T	C	7: 16,774,999 (GRCm39)	E533G	probably damaging	Het
Kalrn	T	A	16: 34,177,685 (GRCm39)	Y178F	probably damaging	Het
Mageb4	G	T	X: 85,296,000 (GRCm39)	R10S	probably damaging	Het
Muc6	A	G	7: 141,234,946 (GRCm39)		probably benign	Het
Myh11	C	A	16: 14,035,813 (GRCm39)	E1038D	probably benign	Het
Nfxl1	T	C	5: 72,697,954 (GRCm39)	Y297C	probably damaging	Het
Nop14	T	C	5: 34,811,782 (GRCm39)	K202E	probably damaging	Het
Or5b112	T	C	19: 13,319,893 (GRCm39)	I257T	possibly damaging	Het
Osbpl8	T	A	10: 111,105,297 (GRCm39)	S251T	probably benign	Het
Pcdha1	A	T	18: 37,065,361 (GRCm39)	K675I	possibly damaging	Het
Pigw	A	G	11: 84,769,209 (GRCm39)	I40T	probably benign	Het
Pip5k1a	A	T	3: 94,985,498 (GRCm39)		probably benign	Het
Ptprh	G	T	7: 4,557,234 (GRCm39)	Q687K	probably damaging	Het
Rbm4	A	G	19: 4,837,411 (GRCm39)	Y358H	probably damaging	Het
Rft1	T	A	14: 30,412,408 (GRCm39)	C490S	probably damaging	Het
Rims2	A	T	15: 39,341,971 (GRCm39)	T887S	probably benign	Het
Ripk2	A	T	4: 16,127,695 (GRCm39)	L349Q	probably benign	Het
Strn	T	C	17: 78,964,421 (GRCm39)	N515D	probably damaging	Het
Stxbp5l	A	T	16: 37,061,708 (GRCm39)	Y367*	probably null	Het
Tas2r143	G	A	6: 42,377,910 (GRCm39)	V247I	probably benign	Het
Togaram1	A	T	12: 65,030,283 (GRCm39)	Y1029F	probably benign	Het
Ugt1a6b	A	G	1: 88,035,516 (GRCm39)	T285A	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
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
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'- ACGCGGCTCCAGTCTTTG -3'
(R):5'- GTGCGGTCATCACACCCAC -3'

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

Posted On

2015-02-19