Mutagenetix > Incidental Mutation

Incidental Mutation 'R4751:Chsy3'

357646

Institutional Source

Beutler Lab

Gene Symbol

Chsy3

Ensembl Gene

ENSMUSG00000058152

Gene Name

chondroitin sulfate synthase 3

Synonyms

4833446K15Rik

MMRRC Submission

041970-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4751 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

59308412-59544408 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59308872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 42 (S42P)

Ref Sequence

ENSEMBL: ENSMUSP00000079546 (fasta)

Gene Model

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

AlphaFold

Q5DTK1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080721
AA Change: S42P

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

SMART Domains

Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: S42P

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

0.0882

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

95% (124/131)

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	T	7: 127,836,258 (GRCm39)	C112S	probably benign	Het
Abca13	G	A	11: 9,227,973 (GRCm39)		probably null	Het
Abca14	A	G	7: 119,911,400 (GRCm39)	E1328G	probably benign	Het
Abca9	T	A	11: 110,021,396 (GRCm39)	I1105F	probably benign	Het
Abr	T	C	11: 76,347,434 (GRCm39)	N396D	possibly damaging	Het
Aftph	A	C	11: 20,677,074 (GRCm39)	C178W	probably damaging	Het
Akr1c14	T	C	13: 4,115,338 (GRCm39)	F89S	possibly damaging	Het
Ank3	C	T	10: 69,822,036 (GRCm39)	A1518V	probably benign	Het
Arfgap2	T	G	2: 91,097,713 (GRCm39)	S143R	probably benign	Het
Aspdh	T	A	7: 44,116,629 (GRCm39)	C107*	probably null	Het
Asphd2	C	A	5: 112,539,612 (GRCm39)	G74W	probably damaging	Het
AU040320	G	A	4: 126,748,259 (GRCm39)		probably null	Het
B3glct	T	A	5: 149,648,867 (GRCm39)		probably null	Het
Bcl9l	A	G	9: 44,418,100 (GRCm39)	K646R	probably damaging	Het
Brat1	T	G	5: 140,704,051 (GRCm39)	L768R	probably damaging	Het
Btbd18	T	A	2: 84,498,265 (GRCm39)	Y634*	probably null	Het
Bub1	T	A	2: 127,665,858 (GRCm39)		probably benign	Het
Carns1	A	T	19: 4,216,417 (GRCm39)	D588E	probably damaging	Het
Cast	T	C	13: 74,894,166 (GRCm39)	K141E	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Clca3a1	A	T	3: 144,710,609 (GRCm39)	F865I	possibly damaging	Het
Clec4f	T	A	6: 83,622,264 (GRCm39)	M526L	possibly damaging	Het
Clnk	T	C	5: 38,878,256 (GRCm39)	E301G	probably benign	Het
Colgalt2	T	A	1: 152,365,627 (GRCm39)	I309N	probably benign	Het
Cyp2e1	A	T	7: 140,354,629 (GRCm39)	K326*	probably null	Het
Dagla	T	A	19: 10,227,758 (GRCm39)	T717S	probably benign	Het
Dnajc11	G	A	4: 152,052,999 (GRCm39)	R141H	probably benign	Het
Dst	A	G	1: 34,230,965 (GRCm39)	K2853E	probably benign	Het
Eif4g1	A	G	16: 20,505,265 (GRCm39)	K1208E	possibly damaging	Het
Elane	A	G	10: 79,722,625 (GRCm39)	R48G	probably benign	Het
Fbxo30	T	A	10: 11,165,939 (GRCm39)	N220K	probably benign	Het
Fbxo33	A	T	12: 59,247,714 (GRCm39)		probably benign	Het
Fetub	G	A	16: 22,756,645 (GRCm39)	V169I	probably benign	Het
Gpx6	A	C	13: 21,501,234 (GRCm39)	Q107H	probably damaging	Het
H2bc18	A	T	3: 96,176,467 (GRCm39)		probably benign	Het
Homer3	A	T	8: 70,738,084 (GRCm39)	I19F	probably damaging	Het
Hspa4	C	T	11: 53,175,026 (GRCm39)	V144I	probably benign	Het
Icos	C	T	1: 61,032,876 (GRCm39)	S25L	probably benign	Het
Ifna4	A	G	4: 88,760,185 (GRCm39)	T30A	probably benign	Het
Ino80b	C	T	6: 83,101,731 (GRCm39)	G46D	probably damaging	Het
Kpna2	T	G	11: 106,883,490 (GRCm39)	I100L	possibly damaging	Het
Krt71	C	T	15: 101,643,901 (GRCm39)	G446R	probably damaging	Het
Krtap31-2	A	G	11: 99,827,402 (GRCm39)	N78S	possibly damaging	Het
Lman1	A	G	18: 66,131,505 (GRCm39)	S132P	probably benign	Het
Lmna	T	C	3: 88,393,840 (GRCm39)	Q246R	possibly damaging	Het
Lrp10	T	A	14: 54,706,049 (GRCm39)	V413E	probably damaging	Het
Macf1	A	C	4: 123,365,443 (GRCm39)	I1541S	probably benign	Het
Med24	A	G	11: 98,597,258 (GRCm39)	L874P	probably damaging	Het
Mgll	T	A	6: 88,702,093 (GRCm39)		probably benign	Het
Mrpl37	A	T	4: 106,914,672 (GRCm39)	L364Q	probably damaging	Het
Mrpl47	C	T	3: 32,782,590 (GRCm39)	R209H	probably benign	Het
Muc5ac	T	C	7: 141,371,338 (GRCm39)	F3285L	probably benign	Het
Mylk	A	G	16: 34,699,539 (GRCm39)	R301G	probably benign	Het
Nacad	A	G	11: 6,555,726 (GRCm39)	L8P	unknown	Het
Ncf1	T	A	5: 134,258,399 (GRCm39)	H8L	probably damaging	Het
Ncoa3	T	A	2: 165,911,823 (GRCm39)	M1383K	possibly damaging	Het
Necab2	C	T	8: 120,194,337 (GRCm39)	S271L	probably benign	Het
Nme8	A	T	13: 19,859,808 (GRCm39)		probably null	Het
Nsrp1	T	G	11: 76,967,545 (GRCm39)	T16P	possibly damaging	Het
Obox3	A	T	7: 15,359,617 (GRCm39)		probably null	Het
Or1l8	T	C	2: 36,817,595 (GRCm39)	H177R	probably damaging	Het
Or4c108	A	G	2: 88,803,477 (GRCm39)	C253R	probably damaging	Het
Or4c15	T	A	2: 88,760,258 (GRCm39)	I134F	probably damaging	Het
Or4d6	T	A	19: 12,086,541 (GRCm39)	Y123F	probably damaging	Het
Or52n2b	A	T	7: 104,565,617 (GRCm39)	Y295*	probably null	Het
Or6b2	C	A	1: 92,407,705 (GRCm39)	A213S	probably benign	Het
Osbpl3	C	G	6: 50,277,977 (GRCm39)	E790Q	possibly damaging	Het
Osmr	A	T	15: 6,872,333 (GRCm39)	W254R	probably damaging	Het
Otoa	T	C	7: 120,732,147 (GRCm39)		probably benign	Het
Pagr1a	A	T	7: 126,614,551 (GRCm39)	L218H	probably damaging	Het
Pcdha11	G	A	18: 37,139,997 (GRCm39)	G542D	probably damaging	Het
Pck2	T	A	14: 55,780,018 (GRCm39)	I54N	probably damaging	Het
Ppif	T	C	14: 25,699,923 (GRCm39)	V173A	probably damaging	Het
Ptgs2	T	A	1: 149,979,771 (GRCm39)	L292H	probably damaging	Het
Ptpru	A	G	4: 131,529,897 (GRCm39)	S604P	probably damaging	Het
Qrfpr	T	C	3: 36,236,771 (GRCm39)	H210R	possibly damaging	Het
Rasgrf1	A	G	9: 89,792,171 (GRCm39)	T41A	probably damaging	Het
Rasgrf1	A	G	9: 89,894,919 (GRCm39)	H1113R	probably damaging	Het
Rhoc	T	A	3: 104,699,963 (GRCm39)	I80N	probably damaging	Het
Riok3	A	G	18: 12,287,040 (GRCm39)	N472S	probably benign	Het
Rnf213	A	G	11: 119,336,571 (GRCm39)	Y3314C	probably benign	Het
Shank2	C	T	7: 143,963,205 (GRCm39)	T264I	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sipa1l1	A	G	12: 82,387,968 (GRCm39)	I65V	probably benign	Het
Slc22a19	T	C	19: 7,668,510 (GRCm39)	K291R	possibly damaging	Het
Slc22a20	T	C	19: 6,030,488 (GRCm39)	I315V	probably benign	Het
Slc44a1	A	T	4: 53,560,973 (GRCm39)	D563V	probably damaging	Het
Smchd1	A	T	17: 71,698,463 (GRCm39)	H1104Q	probably benign	Het
Spcs2	A	T	7: 99,493,976 (GRCm39)		probably null	Het
Speer1e	T	A	5: 11,236,458 (GRCm39)	Y138N	probably damaging	Het
Sptb	T	C	12: 76,673,884 (GRCm39)	E301G	probably benign	Het
Stum	T	C	1: 180,270,234 (GRCm39)	D86G	probably damaging	Het
Sufu	A	T	19: 46,472,088 (GRCm39)	D449V	probably benign	Het
Sun5	T	C	2: 153,707,936 (GRCm39)		probably null	Het
Tbc1d15	T	A	10: 115,038,492 (GRCm39)	I574F	probably damaging	Het
Tert	G	A	13: 73,776,182 (GRCm39)	S311N	possibly damaging	Het
Tiparp	T	C	3: 65,460,225 (GRCm39)	Y507H	probably damaging	Het
Tnk2	T	C	16: 32,498,675 (GRCm39)	C158R	probably damaging	Het
Tpgs1	T	C	10: 79,511,454 (GRCm39)	S199P	possibly damaging	Het
Trdmt1	G	T	2: 13,549,464 (GRCm39)		probably benign	Het
Trp53bp1	T	A	2: 121,058,290 (GRCm39)	D944V	probably damaging	Het
Tsc1	T	A	2: 28,569,093 (GRCm39)	I720N	probably damaging	Het
Ttn	T	C	2: 76,539,949 (GRCm39)	T34346A	probably benign	Het
Ttn	T	C	2: 76,727,925 (GRCm39)		probably benign	Het
Uba7	T	A	9: 107,857,004 (GRCm39)	C686S	possibly damaging	Het
Ush2a	T	A	1: 188,582,284 (GRCm39)	F3782L	probably damaging	Het
Vars2	A	T	17: 35,970,235 (GRCm39)	H745Q	possibly damaging	Het
Vgf	T	A	5: 137,061,255 (GRCm39)	D472E	probably damaging	Het
Vmn2r15	T	C	5: 109,434,620 (GRCm39)	M695V	probably benign	Het
Vps41	A	T	13: 18,995,792 (GRCm39)	D208V	probably damaging	Het
Vta1	C	T	10: 14,531,560 (GRCm39)	A272T	probably benign	Het
Wnk4	G	A	11: 101,167,188 (GRCm39)		probably benign	Het
Zfp507	T	C	7: 35,493,807 (GRCm39)	K412R	probably damaging	Het
Zfp768	A	G	7: 126,943,934 (GRCm39)	F65L	possibly damaging	Het
Zfp956	T	C	6: 47,940,510 (GRCm39)	S290P	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
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'- CGTCCAAGAGCGGGTGATG -3'
(R):5'- AAAACTGGGACCTCCGGG -3'

Sequencing Primer
(F):5'- GCCGAAGTTTCACTCCCGAC -3'
(R):5'- TGCTGAGGACCGGGGAGCTCGTGGCT -3'

Posted On

2015-11-11