Mutagenetix > Incidental Mutation

Incidental Mutation 'R5373:Chsy1'

428869

Institutional Source

Beutler Lab

Gene Symbol

Chsy1

Ensembl Gene

ENSMUSG00000032640

Gene Name

chondroitin sulfate synthase 1

Synonyms

skt

MMRRC Submission

042949-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5373 (G1)

Quality Score

114

Status

Validated

Chromosome

Chromosomal Location

65759263-65823546 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 65759824 bp (GRCm39)

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]

AlphaFold

Q6ZQ11

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: 137,773,396 (GRCm39)	S862G	probably benign	Het
Abcb5	G	T	12: 118,850,912 (GRCm39)	T887K	probably damaging	Het
Adgrf1	G	A	17: 43,601,896 (GRCm39)		probably benign	Het
Adss2	T	G	1: 177,623,954 (GRCm39)	I3L	probably benign	Het
Anapc7	T	A	5: 122,576,280 (GRCm39)	D302E	probably benign	Het
Ank3	A	G	10: 69,789,306 (GRCm39)		probably null	Het
Arpp21	T	G	9: 111,896,336 (GRCm39)	M687L	probably benign	Het
Camkv	T	C	9: 107,824,088 (GRCm39)	S221P	probably benign	Het
Ccdc88a	C	T	11: 29,413,409 (GRCm39)	T649M	possibly damaging	Het
Cdh12	A	C	15: 21,583,998 (GRCm39)	S613R	probably damaging	Het
Cisd2	A	G	3: 135,114,596 (GRCm39)	V125A	probably benign	Het
Cntnap2	T	A	6: 47,084,903 (GRCm39)	H1121Q	probably benign	Het
Corin	A	T	5: 72,462,296 (GRCm39)	C876S	probably damaging	Het
Cplane1	T	C	15: 8,300,287 (GRCm39)	V3198A	unknown	Het
Cspp1	T	G	1: 10,204,351 (GRCm39)	L1038R	probably damaging	Het
Cwc15	A	G	9: 14,416,234 (GRCm39)	K147E	possibly damaging	Het
Dlgap2	A	G	8: 14,873,614 (GRCm39)	D739G	probably benign	Het
Dmxl2	A	G	9: 54,276,473 (GRCm39)		probably benign	Het
Dnajc6	T	C	4: 101,472,824 (GRCm39)	I317T	probably damaging	Het
Dpysl3	T	C	18: 43,494,101 (GRCm39)	Y193C	probably damaging	Het
Dtna	T	C	18: 23,784,670 (GRCm39)	Y730H	probably damaging	Het
Dusp3	A	G	11: 101,875,451 (GRCm39)	Y38H	possibly damaging	Het
Eif3m	A	T	2: 104,843,277 (GRCm39)	I151N	probably damaging	Het
Eml2	A	T	7: 18,913,188 (GRCm39)	D62V	possibly damaging	Het
Epb41l3	C	A	17: 69,593,795 (GRCm39)	H810N	probably damaging	Het
Evc2	C	T	5: 37,535,554 (GRCm39)	R410W	probably damaging	Het
Fam169b	T	C	7: 67,950,586 (GRCm39)	Y13H	probably damaging	Het
Fcrl5	A	G	3: 87,353,698 (GRCm39)	T348A	probably benign	Het
Fezf2	A	T	14: 12,344,803 (GRCm38)	V128E	possibly damaging	Het
Ighv3-5	A	G	12: 114,226,573 (GRCm39)	S18P	probably damaging	Het
Kcnq5	T	A	1: 22,031,795 (GRCm39)	H4L	unknown	Het
Kdm5d	C	T	Y: 927,995 (GRCm39)	P756S	probably benign	Het
Lig1	AG	A	7: 13,039,849 (GRCm39)		probably null	Het
Ly75	A	T	2: 60,142,115 (GRCm39)	L1332M	possibly damaging	Het
Med1	T	A	11: 98,054,789 (GRCm39)	K378N	probably damaging	Het
Mn1	A	G	5: 111,569,752 (GRCm39)		probably null	Het
Mpo	T	C	11: 87,694,437 (GRCm39)		probably null	Het
Mtfr2	G	T	10: 20,228,598 (GRCm39)	C48F	probably benign	Het
Nt5c	G	A	11: 115,381,643 (GRCm39)		probably null	Het
Pcdhga4	T	C	18: 37,818,649 (GRCm39)	V66A	probably damaging	Het
Pik3c3	T	C	18: 30,445,614 (GRCm39)	S534P	probably benign	Het
Pla2g4e	A	T	2: 120,016,876 (GRCm39)	C222S	probably benign	Het
Plch1	A	C	3: 63,605,499 (GRCm39)	H1468Q	probably benign	Het
Psd2	T	A	18: 36,140,556 (GRCm39)	W610R	probably damaging	Het
Ptgs1	A	T	2: 36,141,198 (GRCm39)	K548N	probably damaging	Het
Ptpn14	T	C	1: 189,583,160 (GRCm39)	M669T	probably benign	Het
Ptprf	G	T	4: 118,083,238 (GRCm39)	T923K	possibly damaging	Het
Ptprg	A	G	14: 12,213,665 (GRCm38)	N1011S	probably benign	Het
Ptprz1	T	A	6: 23,007,354 (GRCm39)	V1639E	probably damaging	Het
Rgsl1	C	T	1: 153,666,053 (GRCm39)	V986I	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Rxfp2	A	G	5: 149,993,725 (GRCm39)	T596A	probably benign	Het
Serpina3j	A	G	12: 104,280,986 (GRCm39)	D53G	probably damaging	Het
Slc26a7	A	T	4: 14,546,447 (GRCm39)	I294N	probably damaging	Het
Slirp	T	C	12: 87,496,192 (GRCm39)	S96P	possibly damaging	Het
Snx6	T	C	12: 54,817,513 (GRCm39)	E128G	probably damaging	Het
Spata6	T	A	4: 111,680,031 (GRCm39)		probably null	Het
Stap1	A	G	5: 86,238,787 (GRCm39)	T152A	possibly damaging	Het
Susd5	G	A	9: 113,911,653 (GRCm39)	G188R	probably damaging	Het
Thap2	A	T	10: 115,208,744 (GRCm39)	Y125*	probably null	Het
Tnrc18	G	A	5: 142,725,911 (GRCm39)	R1793C	unknown	Het
Ugt1a10	T	A	1: 87,983,632 (GRCm39)	D143E	probably damaging	Het
Vmn1r85	A	T	7: 12,818,255 (GRCm39)	Y296*	probably null	Het
Vmn2r71	C	T	7: 85,267,750 (GRCm39)	T68I	possibly damaging	Het
Zc3h6	A	T	2: 128,844,076 (GRCm39)	I207F	possibly damaging	Het
Zfp518a	T	C	19: 40,901,954 (GRCm39)	S628P	probably benign	Het
Zfp85	T	C	13: 67,897,577 (GRCm39)	Y165C	probably damaging	Het
Zup1	T	C	10: 33,803,462 (GRCm39)	N541D	possibly damaging	Het

Other mutations in Chsy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01087:Chsy1	APN	7	65,821,874 (GRCm39)	missense	possibly damaging	0.70
IGL01734:Chsy1	APN	7	65,821,058 (GRCm39)	missense	probably damaging	0.98
IGL02037:Chsy1	APN	7	65,821,576 (GRCm39)	missense	possibly damaging	0.69
IGL02797:Chsy1	APN	7	65,821,412 (GRCm39)	missense	probably damaging	1.00
IGL02961:Chsy1	APN	7	65,821,530 (GRCm39)	missense	probably benign	0.00
IGL03290:Chsy1	APN	7	65,820,779 (GRCm39)	missense	probably benign	0.15
IGL03292:Chsy1	APN	7	65,775,120 (GRCm39)	missense	probably benign	0.02
Chrysanthemum	UTSW	7	65,759,977 (GRCm39)	critical splice donor site	probably null
coesite	UTSW	7	65,775,211 (GRCm39)	missense	probably damaging	1.00
deprimido	UTSW	7	65,821,435 (GRCm39)	missense	probably damaging	1.00
Elevado	UTSW	7	65,759,824 (GRCm39)	nonsense	probably null
R0669:Chsy1	UTSW	7	65,821,435 (GRCm39)	missense	probably damaging	1.00
R1336:Chsy1	UTSW	7	65,774,987 (GRCm39)	splice site	probably null
R1499:Chsy1	UTSW	7	65,821,750 (GRCm39)	missense	probably damaging	1.00
R1640:Chsy1	UTSW	7	65,821,262 (GRCm39)	missense	probably benign	0.34
R1674:Chsy1	UTSW	7	65,821,411 (GRCm39)	missense	probably damaging	1.00
R1812:Chsy1	UTSW	7	65,821,565 (GRCm39)	missense	probably benign	0.12
R1934:Chsy1	UTSW	7	65,821,991 (GRCm39)	missense	probably damaging	1.00
R2964:Chsy1	UTSW	7	65,821,912 (GRCm39)	missense	probably damaging	1.00
R2965:Chsy1	UTSW	7	65,821,912 (GRCm39)	missense	probably damaging	1.00
R2966:Chsy1	UTSW	7	65,821,912 (GRCm39)	missense	probably damaging	1.00
R3692:Chsy1	UTSW	7	65,821,001 (GRCm39)	missense	probably damaging	1.00
R4890:Chsy1	UTSW	7	65,759,974 (GRCm39)	missense	probably benign	0.00
R5936:Chsy1	UTSW	7	65,822,025 (GRCm39)	missense	possibly damaging	0.89
R6149:Chsy1	UTSW	7	65,775,133 (GRCm39)	missense	probably damaging	1.00
R6192:Chsy1	UTSW	7	65,820,625 (GRCm39)	missense	probably benign	0.29
R6653:Chsy1	UTSW	7	65,759,941 (GRCm39)	missense	probably benign	0.10
R6848:Chsy1	UTSW	7	65,820,785 (GRCm39)	missense	probably damaging	1.00
R7318:Chsy1	UTSW	7	65,759,977 (GRCm39)	critical splice donor site	probably null
R7514:Chsy1	UTSW	7	65,821,868 (GRCm39)	missense	probably damaging	1.00
R7560:Chsy1	UTSW	7	65,821,319 (GRCm39)	missense	probably damaging	1.00
R7560:Chsy1	UTSW	7	65,820,992 (GRCm39)	missense	possibly damaging	0.85
R7655:Chsy1	UTSW	7	65,820,778 (GRCm39)	missense	probably damaging	0.98
R7656:Chsy1	UTSW	7	65,820,778 (GRCm39)	missense	probably damaging	0.98
R8410:Chsy1	UTSW	7	65,775,211 (GRCm39)	missense	probably damaging	1.00
R8478:Chsy1	UTSW	7	65,820,748 (GRCm39)	missense	probably benign
R8720:Chsy1	UTSW	7	65,821,088 (GRCm39)	missense	possibly damaging	0.67
R9368:Chsy1	UTSW	7	65,821,499 (GRCm39)	missense	probably damaging	0.99
R9457:Chsy1	UTSW	7	65,822,148 (GRCm39)	missense	probably benign
X0012:Chsy1	UTSW	7	65,821,916 (GRCm39)	missense	probably damaging	1.00
X0063:Chsy1	UTSW	7	65,821,672 (GRCm39)	missense	probably benign	0.05
Z1176:Chsy1	UTSW	7	65,821,974 (GRCm39)	missense	probably damaging	1.00

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