Mutagenetix > Incidental Mutations

Incidental Mutation 'R5373:Chsy1'

428869

Institutional Source

Beutler Lab

Gene Symbol

Chsy1

Ensembl Gene

ENSMUSG00000032640

Gene Name

chondroitin sulfate synthase 1

Synonyms

MMRRC Submission

042949-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5373 (G1)

Quality Score

114

Status

Validated

Chromosome

Chromosomal Location

66109515-66173798 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 66110076 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 56 (Q56*)

Ref Sequence

ENSEMBL: ENSMUSP00000047487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036372]

Predicted Effect

probably null
Transcript: ENSMUST00000036372
AA Change: Q56*

SMART Domains

Protein: ENSMUSP00000047487
Gene: ENSMUSG00000032640
AA Change: Q56*

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Fringe	81	307	3.8e-21	PFAM
Pfam:CHGN	237	776	9.8e-197	PFAM
Pfam:Glyco_tranf_2_2	548	751	1.2e-10	PFAM
Pfam:Glyco_transf_7C	674	747	2.5e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181911

Meta Mutation Damage Score

0.9703

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

96% (74/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous mice are viable, but display chondrodysplasia, brachydactyly and decreased bone density. Retinal degeneration, impaired motor strength, and hematological abnormalities are also seen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,067,635	S862G	probably benign	Het
2410089E03Rik	T	C	15: 8,270,803	V3198A	unknown	Het
Abcb5	G	T	12: 118,887,177	T887K	probably damaging	Het
Adgrf1	G	A	17: 43,291,005		probably benign	Het
Adss	T	G	1: 177,796,388	I3L	probably benign	Het
Anapc7	T	A	5: 122,438,217	D302E	probably benign	Het
Ank3	A	G	10: 69,953,476		probably null	Het
Arpp21	T	G	9: 112,067,268	M687L	probably benign	Het
Camkv	T	C	9: 107,946,889	S221P	probably benign	Het
Ccdc88a	C	T	11: 29,463,409	T649M	possibly damaging	Het
Cdh12	A	C	15: 21,583,912	S613R	probably damaging	Het
Cisd2	A	G	3: 135,408,835	V125A	probably benign	Het
Cntnap2	T	A	6: 47,107,969	H1121Q	probably benign	Het
Corin	A	T	5: 72,304,953	C876S	probably damaging	Het
Cspp1	T	G	1: 10,134,126	L1038R	probably damaging	Het
Cwc15	A	G	9: 14,504,938	K147E	possibly damaging	Het
Dlgap2	A	G	8: 14,823,614	D739G	probably benign	Het
Dmxl2	A	G	9: 54,369,189		probably benign	Het
Dnajc6	T	C	4: 101,615,627	I317T	probably damaging	Het
Dpysl3	T	C	18: 43,361,036	Y193C	probably damaging	Het
Dtna	T	C	18: 23,651,613	Y730H	probably damaging	Het
Dusp3	A	G	11: 101,984,625	Y38H	possibly damaging	Het
Eif3m	A	T	2: 105,012,932	I151N	probably damaging	Het
Eml2	A	T	7: 19,179,263	D62V	possibly damaging	Het
Epb41l3	C	A	17: 69,286,800	H810N	probably damaging	Het
Evc2	C	T	5: 37,378,210	R410W	probably damaging	Het
Fam169b	T	C	7: 68,300,838	Y13H	probably damaging	Het
Fcrl5	A	G	3: 87,446,391	T348A	probably benign	Het
Fezf2	A	T	14: 12,344,803	V128E	possibly damaging	Het
Ighv3-5	A	G	12: 114,262,953	S18P	probably damaging	Het
Kcnq5	T	A	1: 21,961,571	H4L	unknown	Het
Kdm5d	C	T	Y: 927,995	P756S	probably benign	Het
Lig1	AG	A	7: 13,305,923		probably null	Het
Ly75	A	T	2: 60,311,771	L1332M	possibly damaging	Het
Med1	T	A	11: 98,163,963	K378N	probably damaging	Het
Mn1	A	G	5: 111,421,886		probably null	Het
Mpo	T	C	11: 87,803,611		probably null	Het
Mtfr2	G	T	10: 20,352,852	C48F	probably benign	Het
Nt5c	G	A	11: 115,490,817		probably null	Het
Pcdhga4	T	C	18: 37,685,596	V66A	probably damaging	Het
Pik3c3	T	C	18: 30,312,561	S534P	probably benign	Het
Pla2g4e	A	T	2: 120,186,395	C222S	probably benign	Het
Plch1	A	C	3: 63,698,078	H1468Q	probably benign	Het
Psd2	T	A	18: 36,007,503	W610R	probably damaging	Het
Ptgs1	A	T	2: 36,251,186	K548N	probably damaging	Het
Ptpn14	T	C	1: 189,850,963	M669T	probably benign	Het
Ptprf	G	T	4: 118,226,041	T923K	possibly damaging	Het
Ptprg	A	G	14: 12,213,665	N1011S	probably benign	Het
Ptprz1	T	A	6: 23,007,355	V1639E	probably damaging	Het
Rgsl1	C	T	1: 153,790,307	V986I	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Rxfp2	A	G	5: 150,070,260	T596A	probably benign	Het
Serpina3j	A	G	12: 104,314,727	D53G	probably damaging	Het
Slc26a7	A	T	4: 14,546,447	I294N	probably damaging	Het
Slirp	T	C	12: 87,449,422	S96P	possibly damaging	Het
Snx6	T	C	12: 54,770,728	E128G	probably damaging	Het
Spata6	T	A	4: 111,822,834		probably null	Het
Stap1	A	G	5: 86,090,928	T152A	possibly damaging	Het
Susd5	G	A	9: 114,082,585	G188R	probably damaging	Het
Thap2	A	T	10: 115,372,839	Y125*	probably null	Het
Tnrc18	G	A	5: 142,740,156	R1793C	unknown	Het
Ugt1a10	T	A	1: 88,055,910	D143E	probably damaging	Het
Vmn1r85	A	T	7: 13,084,328	Y296*	probably null	Het
Vmn2r71	C	T	7: 85,618,542	T68I	possibly damaging	Het
Zc3h6	A	T	2: 129,002,156	I207F	possibly damaging	Het
Zfp518a	T	C	19: 40,913,510	S628P	probably benign	Het
Zfp85	T	C	13: 67,749,458	Y165C	probably damaging	Het
Zufsp	T	C	10: 33,927,466	N541D	possibly damaging	Het

Other mutations in Chsy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01087:Chsy1	APN	7	66172126	missense	possibly damaging	0.70
IGL01734:Chsy1	APN	7	66171310	missense	probably damaging	0.98
IGL02037:Chsy1	APN	7	66171828	missense	possibly damaging	0.69
IGL02797:Chsy1	APN	7	66171664	missense	probably damaging	1.00
IGL02961:Chsy1	APN	7	66171782	missense	probably benign	0.00
IGL03290:Chsy1	APN	7	66171031	missense	probably benign	0.15
IGL03292:Chsy1	APN	7	66125372	missense	probably benign	0.02
deprimido	UTSW	7	66171687	missense	probably damaging	1.00
Elevado	UTSW	7	66110076	nonsense	probably null
R0669:Chsy1	UTSW	7	66171687	missense	probably damaging	1.00
R1336:Chsy1	UTSW	7	66125239	splice site	probably null
R1499:Chsy1	UTSW	7	66172002	missense	probably damaging	1.00
R1640:Chsy1	UTSW	7	66171514	missense	probably benign	0.34
R1674:Chsy1	UTSW	7	66171663	missense	probably damaging	1.00
R1812:Chsy1	UTSW	7	66171817	missense	probably benign	0.12
R1934:Chsy1	UTSW	7	66172243	missense	probably damaging	1.00
R2964:Chsy1	UTSW	7	66172164	missense	probably damaging	1.00
R2965:Chsy1	UTSW	7	66172164	missense	probably damaging	1.00
R2966:Chsy1	UTSW	7	66172164	missense	probably damaging	1.00
R3692:Chsy1	UTSW	7	66171253	missense	probably damaging	1.00
R4890:Chsy1	UTSW	7	66110226	missense	probably benign	0.00
R5936:Chsy1	UTSW	7	66172277	missense	possibly damaging	0.89
R6149:Chsy1	UTSW	7	66125385	missense	probably damaging	1.00
R6192:Chsy1	UTSW	7	66170877	missense	probably benign	0.29
R6653:Chsy1	UTSW	7	66110193	missense	probably benign	0.10
R6848:Chsy1	UTSW	7	66171037	missense	probably damaging	1.00
R7318:Chsy1	UTSW	7	66110229	critical splice donor site	probably null
R7514:Chsy1	UTSW	7	66172120	missense	probably damaging	1.00
R7560:Chsy1	UTSW	7	66171244	missense	possibly damaging	0.85
R7560:Chsy1	UTSW	7	66171571	missense	probably damaging	1.00
R7655:Chsy1	UTSW	7	66171030	missense	probably damaging	0.98
R7656:Chsy1	UTSW	7	66171030	missense	probably damaging	0.98
X0012:Chsy1	UTSW	7	66172168	missense	probably damaging	1.00
X0063:Chsy1	UTSW	7	66171924	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CATGGTCCCCTCTTAAAGGC -3'
(R):5'- TTGCCCTTGAGAGATGCTC -3'

Sequencing Primer
(F):5'- TCCCCTCTTAAAGGCGCAGG -3'
(R):5'- ATGCAGGCGATGGCATC -3'

Posted On

2016-09-06