Mutagenetix > Incidental Mutation

Incidental Mutation 'R7318:Chsy1'

565650

Institutional Source

Beutler Lab

Gene Symbol

Chsy1

Ensembl Gene

ENSMUSG00000032640

Gene Name

chondroitin sulfate synthase 1

Synonyms

skt

MMRRC Submission

045414-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7318 (G1)

Quality Score

125.008

Status

Validated

Chromosome

Chromosomal Location

65759263-65823546 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 65759977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047487 (fasta)

Gene Model

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

AlphaFold

Q6ZQ11

Predicted Effect

probably null
Transcript: ENSMUST00000036372

SMART Domains

Protein: ENSMUSP00000047487
Gene: ENSMUSG00000032640

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

Meta Mutation Damage Score

0.9500

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (67/67)

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
4930433I11Rik	T	C	7: 40,643,111 (GRCm39)	L260S	probably benign	Het
9130230L23Rik	A	T	5: 66,145,771 (GRCm39)	S113R	unknown	Het
Abcc5	G	A	16: 20,211,293 (GRCm39)	P557S	probably benign	Het
Acad11	A	G	9: 103,958,466 (GRCm39)	T245A	probably damaging	Het
Acap2	A	G	16: 30,946,155 (GRCm39)	F263L	probably damaging	Het
Ankle2	A	T	5: 110,385,632 (GRCm39)	N327I	probably benign	Het
Appl1	T	C	14: 26,685,617 (GRCm39)	E67G	probably benign	Het
Arfgef3	A	T	10: 18,506,211 (GRCm39)	C864S	possibly damaging	Het
Arhgap20	A	G	9: 51,751,802 (GRCm39)	I418V	probably benign	Het
Arhgef2	A	T	3: 88,539,610 (GRCm39)	N102Y	probably damaging	Het
Car9	G	T	4: 43,513,089 (GRCm39)	E431D	probably damaging	Het
Cbfa2t2	T	C	2: 154,342,374 (GRCm39)	I30T	probably benign	Het
Cd40	A	T	2: 164,904,255 (GRCm39)	D34V	possibly damaging	Het
Chrnb2	T	A	3: 89,670,674 (GRCm39)		probably null	Het
Cpne6	A	G	14: 55,751,751 (GRCm39)	T245A	possibly damaging	Het
Cpsf1	T	A	15: 76,481,475 (GRCm39)	K1159*	probably null	Het
Crisp1	T	A	17: 40,618,668 (GRCm39)	E64D	possibly damaging	Het
D3Ertd751e	A	G	3: 41,756,986 (GRCm39)		probably null	Het
Dennd11	A	G	6: 40,386,098 (GRCm39)	V333A	possibly damaging	Het
Dnah7b	T	A	1: 46,234,532 (GRCm39)	L1488Q	probably damaging	Het
Dnm2	G	A	9: 21,416,863 (GRCm39)	G799R	possibly damaging	Het
Elp2	G	A	18: 24,739,956 (GRCm39)	V61I	probably damaging	Het
Epb41l3	T	C	17: 69,573,135 (GRCm39)	L388P		Het
Fry	A	T	5: 150,360,458 (GRCm39)	S2035C	probably damaging	Het
Gas8	T	C	8: 124,257,707 (GRCm39)	F385L	probably benign	Het
Ghsr	T	C	3: 27,426,616 (GRCm39)	V224A	possibly damaging	Het
Gstp2	T	A	19: 4,091,065 (GRCm39)	R85W	probably benign	Het
Ighv1-20	T	A	12: 114,687,810 (GRCm39)	I6F	possibly damaging	Het
Inpp4b	T	A	8: 82,798,374 (GRCm39)	M854K	probably damaging	Het
Kif15	A	G	9: 122,817,014 (GRCm39)	E538G	probably damaging	Het
Large2	T	C	2: 92,196,373 (GRCm39)	T485A	probably benign	Het
Lmo3	T	A	6: 138,398,363 (GRCm39)		probably benign	Het
Lyg1	G	A	1: 37,988,936 (GRCm39)	P95S	probably benign	Het
Lyst	A	G	13: 13,932,028 (GRCm39)	H3552R	probably benign	Het
Mtif2	C	T	11: 29,490,115 (GRCm39)	S385L	probably benign	Het
Muc4	A	T	16: 32,575,710 (GRCm39)	I1737F	unknown	Het
Mug1	T	C	6: 121,847,611 (GRCm39)		probably null	Het
Mx1	G	T	16: 97,253,286 (GRCm39)	Q350K	probably benign	Het
Mylk3	G	T	8: 86,085,726 (GRCm39)	D269E	probably benign	Het
Myo3a	A	T	2: 22,448,332 (GRCm39)	K974*	probably null	Het
Nectin4	G	T	1: 171,208,031 (GRCm39)	R141L	probably benign	Het
Nlgn2	T	C	11: 69,716,795 (GRCm39)	H582R	probably damaging	Het
Or51ab3	T	A	7: 103,201,298 (GRCm39)	M102K	probably damaging	Het
Or51e1	T	A	7: 102,359,226 (GRCm39)	Y253*	probably null	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Psmd11	C	A	11: 80,347,128 (GRCm39)	L171I	probably benign	Het
Rad54l	A	G	4: 115,967,906 (GRCm39)	V152A	possibly damaging	Het
Ranbp2	T	A	10: 58,318,909 (GRCm39)	Y2473*	probably null	Het
Sertad1	T	C	7: 27,188,910 (GRCm39)	I77T	possibly damaging	Het
Sesn3	A	T	9: 14,219,873 (GRCm39)	E87D	probably damaging	Het
Slc30a5	A	T	13: 100,950,477 (GRCm39)	S260R	probably benign	Het
Slc6a12	G	A	6: 121,328,972 (GRCm39)	G111S	probably damaging	Het
Slc6a12	T	C	6: 121,328,978 (GRCm39)	Y113H	probably benign	Het
Spag17	T	G	3: 99,847,299 (GRCm39)	M76R	probably benign	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Stard13	G	A	5: 150,986,038 (GRCm39)	Q491*	probably null	Het
Synpo2	T	C	3: 122,910,968 (GRCm39)	S226G	probably benign	Het
Tada2b	G	A	5: 36,641,331 (GRCm39)	T24I	probably benign	Het
Tafa1	T	C	6: 96,092,737 (GRCm39)		probably null	Het
Tmem51	TCCCC	TCCC	4: 141,764,996 (GRCm39)		probably null	Het
Tnnt1	T	A	7: 4,513,547 (GRCm39)		probably null	Het
Usp17lb	T	C	7: 104,490,340 (GRCm39)	I196V	probably benign	Het
Utp20	T	A	10: 88,649,811 (GRCm39)	K466N	possibly damaging	Het
Wdr46	T	C	17: 34,160,859 (GRCm39)		probably null	Het
Zfp287	T	A	11: 62,605,104 (GRCm39)	Q601L	probably damaging	Het
Zfp410	T	C	12: 84,372,464 (GRCm39)	S97P	probably benign	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
R5373:Chsy1	UTSW	7	65,759,824 (GRCm39)	nonsense	probably null
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
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'- GCATGGTCCCCTCTTAAAGG -3'
(R):5'- CGTACTCAATCCCAAAGCCTTG -3'

Sequencing Primer
(F):5'- CTGGCTCAGCATGCTGC -3'
(R):5'- CAAAGCCTTGCCCTTGAGAGATG -3'

Posted On

2019-06-26