Mutagenetix > Incidental Mutation

Incidental Mutation 'R7224:Chsy3'

562067

Institutional Source

Beutler Lab

Gene Symbol

Chsy3

Ensembl Gene

ENSMUSG00000058152

Gene Name

chondroitin sulfate synthase 3

Synonyms

4833446K15Rik

MMRRC Submission

045296-MU

Accession Numbers

Ncbi RefSeq: NM_001081328.1; MGI:1926173

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7224 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59175401-59410446 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59408975 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 395 (L395H)

Ref Sequence

ENSEMBL: ENSMUSP00000079546 (fasta)

Gene Model

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

AlphaFold

Q5DTK1

Predicted Effect

probably damaging
Transcript: ENSMUST00000080721
AA Change: L395H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: L395H

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: 99.6%
20x: 98.4%

Validation Efficiency

99% (79/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432K21Rik	A	G	8: 84,172,213	T577A	probably benign	Het
Aadac	C	T	3: 60,035,854	T60M	probably benign	Het
Actn4	C	T	7: 28,962,084	A34T	probably benign	Het
Acvrl1	A	G	15: 101,143,364	M466V	probably benign	Het
Adamts7	T	C	9: 90,185,815	Y453H	probably damaging	Het
Amfr	G	A	8: 93,984,856	P351S	probably damaging	Het
Ankrd26	G	A	6: 118,539,727	T492M	probably benign	Het
Anxa6	A	G	11: 54,986,167	F547L	probably damaging	Het
Ap5m1	T	G	14: 49,080,927	Y394D	unknown	Het
Atic	G	A	1: 71,570,855	V342I	probably benign	Het
Atl1	C	A	12: 69,955,353	T362N	probably benign	Het
Atp10a	A	T	7: 58,797,471	M654L	probably benign	Het
B3gnt5	A	T	16: 19,769,753	M241L	probably benign	Het
Bbs7	A	G	3: 36,605,728	V186A	possibly damaging	Het
C8b	T	C	4: 104,780,598	L89P	probably damaging	Het
Capn7	G	T	14: 31,370,721	E742*	probably null	Het
Ccdc162	G	A	10: 41,561,191	R1741C	probably damaging	Het
Cnot9	A	G	1: 74,517,229	T62A	probably benign	Het
Cyfip1	AGTGT	AGT	7: 55,928,189		probably null	Het
Cyp2d12	T	A	15: 82,557,648		probably null	Het
Dnah7a	A	G	1: 53,397,261	V3974A	probably benign	Het
Dync1h1	G	A	12: 110,617,762	G533D	possibly damaging	Het
Elfn1	A	G	5: 139,972,473	S411G	probably benign	Het
Enpp3	T	C	10: 24,776,884	D725G	possibly damaging	Het
Epp13	T	G	7: 6,268,802	M77R	probably benign	Het
Fmnl1	T	C	11: 103,182,769		probably null	Het
Fndc8	T	C	11: 82,892,325	M44T	probably benign	Het
Gcgr	A	T	11: 120,534,712		probably benign	Het
Ggt1	T	A	10: 75,574,276	V14D	possibly damaging	Het
Gigyf2	A	G	1: 87,403,725	I198M	unknown	Het
Gm28710	T	C	5: 16,836,594	V615A	possibly damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 142,240,434		probably benign	Het
Gm6034	T	A	17: 36,056,439	S59T	unknown	Het
Gm6408	G	A	5: 146,484,370	V270I	probably benign	Het
Gm853	C	G	4: 130,219,199	A135P	probably damaging	Het
Gpr20	A	T	15: 73,696,132	I136N	probably damaging	Het
Ide	T	C	19: 37,290,761	E565G		Het
Igsf9	T	C	1: 172,494,782	S515P	probably damaging	Het
Kbtbd12	G	A	6: 88,613,983	R416*	probably null	Het
Kcnd3	A	T	3: 105,669,084	I615F	probably damaging	Het
Kcnk7	A	T	19: 5,706,777	M265L	probably benign	Het
Klhdc1	G	A	12: 69,263,149	S275N	probably damaging	Het
Lrba	A	C	3: 86,395,246	N1871T	probably damaging	Het
Lrrk1	A	G	7: 66,332,386	V169A	probably damaging	Het
Magi1	A	G	6: 93,683,089	I1175T	probably benign	Het
Man1a2	T	C	3: 100,582,053	T537A	possibly damaging	Het
Mrpl17	T	C	7: 105,810,002	N129S	probably damaging	Het
Mup5	G	A	4: 61,832,385	R174C	probably damaging	Het
Ndufaf1	G	A	2: 119,658,396	R216C	probably damaging	Het
Neb	T	C	2: 52,334,659		probably null	Het
Olfml3	T	C	3: 103,735,860	K402E	probably damaging	Het
Olfr553	A	T	7: 102,614,767	M74K	probably damaging	Het
Olfr76	T	C	19: 12,120,548	T55A	probably benign	Het
Olfr875	G	A	9: 37,773,415	G252D	possibly damaging	Het
Osbpl8	C	T	10: 111,275,011	P458L	possibly damaging	Het
Pcdh20	T	C	14: 88,469,075	E263G	possibly damaging	Het
Pkd1l1	A	G	11: 8,945,241	L623P		Het
Plxdc1	T	C	11: 97,932,327	T363A	possibly damaging	Het
Pole3	T	C	4: 62,524,050	D111G	unknown	Het
R3hdm2	T	A	10: 127,458,153	L172Q	probably damaging	Het
Rbm33	T	C	5: 28,394,324	V90A		Het
Rcbtb1	C	G	14: 59,228,379	I390M	probably damaging	Het
Romo1	G	A	2: 156,144,375		probably benign	Het
Sars	A	G	3: 108,428,203	Y410H	probably damaging	Het
Sesn2	T	C	4: 132,497,413	T327A	probably benign	Het
Slc30a5	A	G	13: 100,809,254	V530A	probably damaging	Het
Slc30a9	G	A	5: 67,315,701	E43K	probably benign	Het
Slc38a2	A	C	15: 96,691,359	L418W	probably damaging	Het
Snx14	T	C	9: 88,394,561	E557G	possibly damaging	Het
Spata33	T	A	8: 123,221,998	I123K	probably damaging	Het
Tdrd3	A	T	14: 87,477,403	H170L	probably damaging	Het
Trpm1	A	G	7: 64,219,106		probably null	Het
Tsr3	A	T	17: 25,242,595	E302D	probably benign	Het
Ttll11	A	G	2: 35,902,673	I386T	probably damaging	Het
Usp2	C	T	9: 44,075,969	T188M	possibly damaging	Het
Usp44	A	G	10: 93,845,993	I102V	probably benign	Het
Wasf1	A	G	10: 40,926,550	N67S	probably benign	Het
Zfp445	T	C	9: 122,852,143	N911S	probably benign	Het
Zfp467	A	G	6: 48,444,969		probably null	Het

Other mutations in Chsy3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Chsy3	APN	18	59176367	missense	probably damaging	1.00
IGL01543:Chsy3	APN	18	59410400	nonsense	probably null
IGL01627:Chsy3	APN	18	59176295	missense	probably damaging	1.00
IGL02232:Chsy3	APN	18	59409311	missense	possibly damaging	0.89
IGL02604:Chsy3	APN	18	59409115	missense	probably benign	0.00
IGL02888:Chsy3	APN	18	59409995	missense	probably benign	0.00
IGL03199:Chsy3	APN	18	59176401	missense	probably damaging	1.00
bajo	UTSW	18	59176166	frame shift	probably null
bajo2	UTSW	18	59176419	missense	probably damaging	1.00
inferior	UTSW	18	59176415	missense	probably damaging	1.00
P0045:Chsy3	UTSW	18	59409006	nonsense	probably null
R0456:Chsy3	UTSW	18	59176478	missense	probably damaging	1.00
R0605:Chsy3	UTSW	18	59409053	missense	probably damaging	0.97
R1068:Chsy3	UTSW	18	59410289	missense	probably damaging	1.00
R1479:Chsy3	UTSW	18	59408913	missense	probably benign	0.09
R1654:Chsy3	UTSW	18	59176416	missense	probably damaging	1.00
R1868:Chsy3	UTSW	18	59176488	splice site	probably null
R1938:Chsy3	UTSW	18	59409512	missense	probably damaging	1.00
R2114:Chsy3	UTSW	18	59179489	missense	probably damaging	1.00
R2146:Chsy3	UTSW	18	59176472	missense	probably benign	0.04
R3693:Chsy3	UTSW	18	59176008	missense	possibly damaging	0.88
R3787:Chsy3	UTSW	18	59408998	missense	probably damaging	1.00
R3811:Chsy3	UTSW	18	59176170	missense	probably benign	0.42
R3878:Chsy3	UTSW	18	59409773	missense	probably damaging	1.00
R4385:Chsy3	UTSW	18	59176352	missense	probably benign	0.00
R4385:Chsy3	UTSW	18	59179474	missense	possibly damaging	0.95
R4512:Chsy3	UTSW	18	59410187	missense	probably damaging	1.00
R4734:Chsy3	UTSW	18	59179413	missense	probably benign	0.07
R4751:Chsy3	UTSW	18	59175800	missense	possibly damaging	0.66
R4982:Chsy3	UTSW	18	59409575	missense	probably benign	0.07
R4982:Chsy3	UTSW	18	59409767	missense	possibly damaging	0.78
R5032:Chsy3	UTSW	18	59179471	missense	probably damaging	1.00
R5088:Chsy3	UTSW	18	59179535	missense	probably damaging	1.00
R5220:Chsy3	UTSW	18	59410030	missense	probably damaging	0.99
R5257:Chsy3	UTSW	18	59409794	missense	possibly damaging	0.50
R5259:Chsy3	UTSW	18	59410246	missense	probably damaging	0.96
R5558:Chsy3	UTSW	18	59176397	missense	probably damaging	1.00
R5872:Chsy3	UTSW	18	59176196	missense	probably damaging	1.00
R5990:Chsy3	UTSW	18	59176166	frame shift	probably null
R5992:Chsy3	UTSW	18	59176166	frame shift	probably null
R6064:Chsy3	UTSW	18	59176166	frame shift	probably null
R6065:Chsy3	UTSW	18	59176166	frame shift	probably null
R6182:Chsy3	UTSW	18	59179342	missense	probably benign	0.00
R6881:Chsy3	UTSW	18	59179408	missense	probably damaging	1.00
R6985:Chsy3	UTSW	18	59176488	splice site	probably null
R7046:Chsy3	UTSW	18	59409803	missense	probably benign	0.00
R7078:Chsy3	UTSW	18	59176077	missense	possibly damaging	0.51
R7105:Chsy3	UTSW	18	59176419	missense	probably damaging	1.00
R7129:Chsy3	UTSW	18	59410298	missense	probably damaging	1.00
R7151:Chsy3	UTSW	18	59409285	missense	possibly damaging	0.55
R7860:Chsy3	UTSW	18	59409227	missense	probably benign	0.10
R7936:Chsy3	UTSW	18	59409346	missense	probably damaging	1.00
R8010:Chsy3	UTSW	18	59410154	missense	probably damaging	1.00
R8029:Chsy3	UTSW	18	59179447	missense	possibly damaging	0.87
R8215:Chsy3	UTSW	18	59175869	nonsense	probably null
R8332:Chsy3	UTSW	18	59409015	missense	probably damaging	0.98
R8375:Chsy3	UTSW	18	59179513	missense	probably damaging	1.00
R8560:Chsy3	UTSW	18	59410058	missense	possibly damaging	0.91
R8700:Chsy3	UTSW	18	59176415	missense	probably damaging	1.00
R9040:Chsy3	UTSW	18	59409688	missense	probably damaging	0.98
R9290:Chsy3	UTSW	18	59409856	missense	probably benign	0.00
R9413:Chsy3	UTSW	18	59176098	missense	possibly damaging	0.66
R9490:Chsy3	UTSW	18	59179414	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACGAAGTGCCACATTAGTTCG -3'
(R):5'- TGAGTAAAGCAGCTTCCCCG -3'

Sequencing Primer
(F):5'- CTTTTCAGATGCAGCAGC -3'
(R):5'- ATTTCTCTCCCGAGGCTGGAAG -3'

Posted On

2019-06-26