Mutagenetix > Incidental Mutations

Incidental Mutation 'R8478:Chsy1'

657375

Institutional Source

Beutler Lab

Gene Symbol

Chsy1

Ensembl Gene

ENSMUSG00000032640

Gene Name

chondroitin sulfate synthase 1

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8478 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66109515-66173798 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66171000 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 328 (H328Y)

Ref Sequence

ENSEMBL: ENSMUSP00000047487 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000036372
AA Change: H328Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047487
Gene: ENSMUSG00000032640
AA Change: H328Y

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	T	3: 37,033,277	D511V	possibly damaging	Het
Actl11	A	T	9: 107,928,645	I56F	possibly damaging	Het
Adgrl3	G	T	5: 81,794,501	R1357L	possibly damaging	Het
Alpk1	T	A	3: 127,729,312	D27V	probably damaging	Het
Als2	T	C	1: 59,186,016	E986G	probably damaging	Het
Ankle2	T	A	5: 110,252,952	L717Q	possibly damaging	Het
Arl8b	A	G	6: 108,783,324	T24A	possibly damaging	Het
Atp2a1	A	G	7: 126,448,330	I718T	probably damaging	Het
Atp6v0e2	T	A	6: 48,540,097	N70K	probably benign	Het
Bcl11a	A	G	11: 24,165,086	S810G	probably damaging	Het
Bcl2a1d	T	G	9: 88,723,435	*173S	probably null	Het
Cacna1g	A	G	11: 94,426,452	Y1494H	probably damaging	Het
Ccdc7a	T	C	8: 128,761,369	K186E	possibly damaging	Het
Cfap43	T	C	19: 47,776,076	I817V	probably benign	Het
Chd5	C	T	4: 152,356,690	R196*	probably null	Het
Clcn3	A	T	8: 60,919,488	S713T	probably benign	Het
Dnhd1	A	G	7: 105,682,794	N86S	probably benign	Het
Epha3	T	C	16: 63,773,081	T215A	probably damaging	Het
Fam129a	C	A	1: 151,636,512	T55K	possibly damaging	Het
Fosl1	T	C	19: 5,454,919	S145P	probably damaging	Het
Frem3	T	A	8: 80,611,558	V160E	probably damaging	Het
Galk2	A	T	2: 125,929,585	K177*	probably null	Het
Gria1	T	C	11: 57,309,842	Y782H	probably damaging	Het
Gria4	C	T	9: 4,793,882	E59K	probably damaging	Het
Ighv1-11	A	G	12: 114,612,299	Y99H	possibly damaging	Het
Insm2	A	T	12: 55,600,545	Y358F	probably damaging	Het
Marveld3	C	T	8: 109,961,968	G47D	probably damaging	Het
Mthfd1l	A	G	10: 4,148,064	D967G	probably damaging	Het
Nav2	G	T	7: 49,461,985	M746I	probably damaging	Het
Nmnat1	A	G	4: 149,473,384	I67T	possibly damaging	Het
Nub1	G	T	5: 24,701,424	R316L	probably benign	Het
Nxn	A	G	11: 76,274,043	V214A	probably damaging	Het
Olfr669	C	A	7: 104,939,270	S248Y	probably benign	Het
Pelp1	A	T	11: 70,394,320	D907E	unknown	Het
Pik3c2a	A	T	7: 116,418,349	S58T	probably damaging	Het
Pik3ca	A	G	3: 32,451,848	N703S	probably benign	Het
Pon1	C	T	6: 5,185,318	G61R	probably damaging	Het
Pou2f1	A	T	1: 165,931,718	M1K	probably null	Het
Prkdc	T	A	16: 15,648,924	C90S	probably benign	Het
Prokr1	A	G	6: 87,581,348	Y352H	probably benign	Het
Rhod	C	T	19: 4,426,691	R134H	probably damaging	Het
Rufy3	C	T	5: 88,615,036	R110W	probably damaging	Het
Sema4c	A	T	1: 36,551,790	M460K	probably benign	Het
Slc46a3	T	C	5: 147,879,153	S455G	probably benign	Het
Smyd1	A	T	6: 71,216,827	H371Q	probably damaging	Het
Steap1	A	G	5: 5,736,432	M335T	probably benign	Het
Suox	A	G	10: 128,671,052	V369A	probably damaging	Het
Thbs2	T	C	17: 14,680,404	I514V	probably benign	Het
Tmem131l	T	C	3: 83,898,462	E1558G	probably damaging	Het
Tpcn1	G	T	5: 120,560,321	H45Q	probably benign	Het
Ush1c	A	G	7: 46,221,433	S327P	probably damaging	Het
Ush2a	G	A	1: 188,443,232	V1176M	possibly damaging	Het
Utrn	A	G	10: 12,649,148	M2197T	probably benign	Het
Vmn1r50	G	T	6: 90,108,089	C272F	probably benign	Het
Vmn2r10	A	T	5: 108,995,770	N771K	probably damaging	Het
Vmn2r2	A	T	3: 64,116,836	F691I	possibly damaging	Het
Vmn2r53	T	C	7: 12,606,354	Q64R	probably benign	Het
Vmn2r95	G	T	17: 18,452,282	L760F	probably damaging	Het
Xdh	C	A	17: 73,906,058	E863D	probably benign	Het
Ykt6	A	G	11: 5,962,407	Y120C	possibly damaging	Het
Zranb2	A	G	3: 157,546,108	*321W	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
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
R8410:Chsy1	UTSW	7	66125463	missense	probably damaging	1.00
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'- CGGAGTGACACTTACTTACGC -3'
(R):5'- GTGGCTGAGTATAAGTATTTCCCAG -3'

Sequencing Primer
(F):5'- GGAGTGACACTTACTTACGCAGTTC -3'
(R):5'- GTATTTCCCAGTAAGGAACTCCC -3'

Posted On

2021-01-18