Mutagenetix > Incidental Mutations

Incidental Mutation 'R6149:Chsy1'

489068

Institutional Source

Beutler Lab

Gene Symbol

Chsy1

Ensembl Gene

ENSMUSG00000032640

Gene Name

chondroitin sulfate synthase 1

Synonyms

MMRRC Submission

044296-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6149 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66109515-66173798 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66125385 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 154 (Y154C)

Ref Sequence

ENSEMBL: ENSMUSP00000047487 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000036372
AA Change: Y154C

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

SMART Domains

Protein: ENSMUSP00000047487
Gene: ENSMUSG00000032640
AA Change: Y154C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205601

Meta Mutation Damage Score

0.6898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

99% (69/70)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	T	A	1: 161,949,642	R115S	probably benign	Het
Adgre1	A	G	17: 57,445,018	K589E	probably benign	Het
Adgrv1	A	T	13: 81,182,774	L74Q	probably damaging	Het
Avil	A	G	10: 127,006,582	I77V	probably benign	Het
Best2	T	C	8: 85,013,267	E57G	probably benign	Het
C87977	A	G	4: 144,207,413	S375P	probably damaging	Het
Cacna1a	T	C	8: 84,569,952	C1200R	probably damaging	Het
Catsperb	T	A	12: 101,549,839	I578K	probably damaging	Het
Chuk	A	G	19: 44,101,831	V74A	probably damaging	Het
Ckb	T	C	12: 111,671,814	S49G	probably damaging	Het
Crtac1	A	G	19: 42,283,609	Y632H	unknown	Het
Ern1	C	A	11: 106,405,815	E770*	probably null	Het
Fam114a2	A	C	11: 57,487,589	V450G	probably benign	Het
Fgf15	C	T	7: 144,899,769	Q125*	probably null	Het
Frem2	A	T	3: 53,551,341	S2036T	probably damaging	Het
Fxr2	G	A	11: 69,649,204	V296I	probably benign	Het
Gm15264	C	A	3: 94,733,429		noncoding transcript	Het
Gm340	T	A	19: 41,585,202	W799R	probably damaging	Het
Ifi213	A	T	1: 173,594,015	S103T	probably benign	Het
Igkv5-37	T	A	6: 69,963,488	Q57H	probably damaging	Het
Il1rap	A	G	16: 26,712,219	Y435C	probably damaging	Het
Kl	T	A	5: 150,988,853	M689K	possibly damaging	Het
Lnp1	C	T	16: 56,917,372	E118K	probably benign	Het
Lrif1	A	C	3: 106,732,327	K243Q	possibly damaging	Het
Lrp1b	G	T	2: 40,875,153		probably null	Het
Lvrn	G	A	18: 46,884,432	V610I	probably benign	Het
Med1	T	C	11: 98,183,853	K67R	possibly damaging	Het
Midn	T	C	10: 80,154,457	S278P	probably damaging	Het
Nrap	A	G	19: 56,389,453	V35A	possibly damaging	Het
Nynrin	A	T	14: 55,854,323	Q32L	possibly damaging	Het
Olfr1265	C	T	2: 90,037,516	A199V	probably benign	Het
Olfr1328	A	G	4: 118,934,431	L139P	probably damaging	Het
Olfr1444	A	T	19: 12,862,359	I195F	probably benign	Het
Olfr2	T	C	7: 107,001,600	I87V	probably benign	Het
Olfr218	G	T	1: 173,204,015	V220F	probably benign	Het
Oog1	C	T	12: 87,606,273	T113I	possibly damaging	Het
Otogl	C	T	10: 107,881,453	V386I	probably benign	Het
Patj	A	G	4: 98,424,325	N300S	possibly damaging	Het
Pcdhb16	T	A	18: 37,479,155	D389E	possibly damaging	Het
Pdcd6ip	T	C	9: 113,659,871	I699V	probably benign	Het
Pfas	A	G	11: 68,991,945	V790A	probably benign	Het
Plppr4	A	T	3: 117,322,394	C605S	probably benign	Het
Ppl	G	A	16: 5,107,596	Q60*	probably null	Het
Ppp1r1c	A	G	2: 79,756,466	K52R	possibly damaging	Het
Prpf40a	T	C	2: 53,157,915	M197V	probably benign	Het
Rpe65	G	A	3: 159,614,143	E217K	probably benign	Het
Rufy4	T	C	1: 74,147,733	I560T	probably benign	Het
Ryr2	T	C	13: 11,669,017	S3054G	probably benign	Het
Serpinb6a	A	T	13: 33,918,360	L273H	probably damaging	Het
Sf3b1	A	T	1: 55,007,507	W293R	probably damaging	Het
Sik1	A	T	17: 31,848,797	S435T	possibly damaging	Het
Slc2a12	G	T	10: 22,664,502	M85I	probably benign	Het
Stk36	T	C	1: 74,634,229	S1094P	probably benign	Het
Tctn1	A	T	5: 122,246,586	Y393N	probably benign	Het
Tex9	C	T	9: 72,462,000		probably null	Het
Thbs2	A	G	17: 14,679,680		probably null	Het
Tmprss7	A	T	16: 45,673,905	C412*	probably null	Het
Tpp1	T	C	7: 105,747,727	T399A	probably benign	Het
Trim25	T	A	11: 89,015,536	V387D	probably benign	Het
Usp45	A	C	4: 21,810,797	D331A	probably damaging	Het
Vill	T	G	9: 119,058,414	V82G	possibly damaging	Het
Vmn1r189	T	C	13: 22,101,884	D261G	probably benign	Het
Vmn2r111	G	A	17: 22,548,815	T567I	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r60	A	G	7: 42,136,976	Y401C	probably damaging	Het
Zc3h11a	G	A	1: 133,638,875	R69*	probably null	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
Chrysanthemum	UTSW	7	66110229	critical splice donor site	probably null
coesite	UTSW	7	66125463	missense	probably damaging	1.00
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
R5373:Chsy1	UTSW	7	66110076	nonsense	probably null
R5936:Chsy1	UTSW	7	66172277	missense	possibly damaging	0.89
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
R8410:Chsy1	UTSW	7	66125463	missense	probably damaging	1.00
R8478:Chsy1	UTSW	7	66171000	missense	probably benign
X0012:Chsy1	UTSW	7	66172168	missense	probably damaging	1.00
X0063:Chsy1	UTSW	7	66171924	missense	probably benign	0.05
Z1176:Chsy1	UTSW	7	66172226	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAGACCAAATTTAAGCAGTC -3'
(R):5'- AGTTCTCTCCAGGCTCAAGG -3'

Sequencing Primer
(F):5'- GACCAAATTTAAGCAGTCACATAATG -3'
(R):5'- AAGGGCCAGCTTCCCCATTTC -3'

Posted On

2017-10-10