Mutagenetix > Incidental Mutation

Incidental Mutation 'R4890:Chsy1'

434635

Institutional Source

Beutler Lab

Gene Symbol

Chsy1

Ensembl Gene

ENSMUSG00000032640

Gene Name

chondroitin sulfate synthase 1

Synonyms

skt

MMRRC Submission

042495-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4890 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

65759263-65823546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65759974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 106 (R106G)

Ref Sequence

ENSEMBL: ENSMUSP00000047487 (fasta)

Gene Model

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

AlphaFold

Q6ZQ11

Predicted Effect

probably benign
Transcript: ENSMUST00000036372
AA Change: R106G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000047487
Gene: ENSMUSG00000032640
AA Change: R106G

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

0.0932

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.4%

Validation Efficiency

99% (81/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	T	C	1: 130,668,725 (GRCm39)		probably benign	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Adgrb3	T	C	1: 25,260,908 (GRCm39)	N916S	probably damaging	Het
Aox1	T	C	1: 58,373,862 (GRCm39)	V841A	probably benign	Het
Baz2b	A	T	2: 59,756,383 (GRCm39)	M983K	probably damaging	Het
C2cd2l	A	G	9: 44,222,430 (GRCm39)	F682L	probably damaging	Het
Ccsap	T	G	8: 124,572,160 (GRCm39)	E114A	possibly damaging	Het
Cept1	T	A	3: 106,413,123 (GRCm39)	T201S	probably damaging	Het
Cfap221	T	C	1: 119,883,476 (GRCm39)	M232V	probably benign	Het
Cit	C	T	5: 116,126,182 (GRCm39)		probably benign	Het
Cldn7	G	A	11: 69,857,918 (GRCm39)	V42I	probably benign	Het
Cnnm4	T	A	1: 36,511,345 (GRCm39)	V191E	probably benign	Het
Cntf	A	T	19: 12,741,326 (GRCm39)	V178D	possibly damaging	Het
Ctsz	C	A	2: 174,270,393 (GRCm39)	R263L	probably damaging	Het
Dclk1	T	C	3: 55,429,353 (GRCm39)	M407T	probably benign	Het
Dennd1a	A	T	2: 38,066,238 (GRCm39)		probably benign	Het
Dnhd1	A	G	7: 105,306,164 (GRCm39)	I368V	possibly damaging	Het
Gak	A	T	5: 108,728,742 (GRCm39)		probably benign	Het
Hepacam2	A	T	6: 3,487,231 (GRCm39)	V42D	probably damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Insr	T	A	8: 3,248,234 (GRCm39)	Q437L	probably benign	Het
Itga8	G	A	2: 12,198,102 (GRCm39)		probably benign	Het
Kansl1	A	T	11: 104,233,868 (GRCm39)	C732S	probably benign	Het
Kdsr	T	C	1: 106,680,964 (GRCm39)	K78R	probably benign	Het
Kif14	T	C	1: 136,414,868 (GRCm39)	S785P	possibly damaging	Het
Lbr	C	A	1: 181,645,133 (GRCm39)	L506F	probably benign	Het
Macf1	C	A	4: 123,342,031 (GRCm39)	C2720F	probably damaging	Het
Mapt	G	A	11: 104,218,975 (GRCm39)	D738N	probably damaging	Het
Mroh9	T	C	1: 162,854,093 (GRCm39)	Y769C	probably damaging	Het
Mylk2	A	G	2: 152,762,274 (GRCm39)	N515S	possibly damaging	Het
Myorg	G	A	4: 41,498,877 (GRCm39)	T251M	probably benign	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Nrxn2	A	T	19: 6,498,308 (GRCm39)	S258C	possibly damaging	Het
Nudt16l2	A	T	9: 105,021,786 (GRCm39)	S87T	possibly damaging	Het
Or52e15	G	A	7: 104,645,311 (GRCm39)	H267Y	probably benign	Het
Or5m12	C	T	2: 85,735,092 (GRCm39)	C102Y	possibly damaging	Het
Or6c1b	C	T	10: 129,272,948 (GRCm39)	T89I	probably benign	Het
Or6z5	T	A	7: 6,477,848 (GRCm39)	C246*	probably null	Het
Or8c15	G	T	9: 38,120,586 (GRCm39)	C79F	probably benign	Het
Osgin2	G	A	4: 16,013,739 (GRCm39)		probably benign	Het
Otud3	G	A	4: 138,641,060 (GRCm39)	R27W	probably damaging	Het
Pcare	C	T	17: 72,059,306 (GRCm39)	V124I	possibly damaging	Het
Pcdhga12	T	A	18: 37,901,290 (GRCm39)	F707L	possibly damaging	Het
Pik3r1	T	C	13: 101,894,118 (GRCm39)	E17G	probably damaging	Het
Pramel19	A	G	4: 101,798,788 (GRCm39)	E253G	probably damaging	Het
Prickle4	AAGAGAGAGAGAGAGA	AAGAGAGAGAGAGA	17: 48,000,806 (GRCm39)		probably benign	Het
Prokr1	G	A	6: 87,565,678 (GRCm39)	R56W	probably benign	Het
Ptprz1	G	A	6: 23,024,957 (GRCm39)	C1731Y	probably damaging	Het
Rbm15b	A	T	9: 106,763,028 (GRCm39)	F380Y	possibly damaging	Het
Rfc5	G	A	5: 117,524,885 (GRCm39)	L56F	probably damaging	Het
Rhpn2	A	T	7: 35,090,228 (GRCm39)	M617L	probably benign	Het
Rusc1	T	C	3: 88,995,577 (GRCm39)		probably null	Het
Sec23ip	A	G	7: 128,354,634 (GRCm39)	N297D	probably damaging	Het
Sema3c	A	T	5: 17,880,157 (GRCm39)	H259L	probably benign	Het
Sgsm1	G	A	5: 113,428,328 (GRCm39)		probably benign	Het
Shisal2a	A	G	4: 108,224,998 (GRCm39)	V188A	probably benign	Het
Sipa1l2	T	A	8: 126,218,606 (GRCm39)	S244C	probably damaging	Het
Slc39a5	T	C	10: 128,234,316 (GRCm39)	I196V	probably benign	Het
Smim22	G	A	16: 4,825,722 (GRCm39)	A36T	probably damaging	Het
Spag6	A	G	2: 18,747,588 (GRCm39)	I408V	probably benign	Het
Sult2a5	A	G	7: 13,359,311 (GRCm39)	I96V	probably benign	Het
Tmcc2	C	A	1: 132,308,517 (GRCm39)	A126S	probably benign	Het
Tsc2	A	T	17: 24,819,009 (GRCm39)	S1276T	probably damaging	Het
Ttc21a	A	G	9: 119,788,103 (GRCm39)	S843G	probably benign	Het
Tubd1	G	C	11: 86,443,621 (GRCm39)	V110L	possibly damaging	Het
Ugt1a2	T	A	1: 88,128,534 (GRCm39)	V59D	probably damaging	Het
Vmn2r-ps158	A	G	7: 42,697,024 (GRCm39)	R687G	probably damaging	Het
Vsig8	T	A	1: 172,389,142 (GRCm39)	H131Q	probably benign	Het
Zbtb42	C	A	12: 112,646,861 (GRCm39)	Y345*	probably null	Het
Zfp612	T	A	8: 110,816,576 (GRCm39)	C594*	probably null	Het
Zfp940	A	G	7: 29,544,824 (GRCm39)	V361A	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
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
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'- GCATGGTCCCCTCTTAAAGG -3'
(R):5'- ATCCCAAAGCCTTGCCCTTG -3'

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

Posted On

2016-10-14