Mutagenetix > Incidental Mutation

Incidental Mutation 'R9368:Chsy1'

709128

Institutional Source

Beutler Lab

Gene Symbol

Chsy1

Ensembl Gene

ENSMUSG00000032640

Gene Name

chondroitin sulfate synthase 1

Synonyms

skt

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9368 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65759263-65823546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65821499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 578 (D578G)

Ref Sequence

ENSEMBL: ENSMUSP00000047487 (fasta)

Gene Model

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

AlphaFold

Q6ZQ11

Predicted Effect

probably damaging
Transcript: ENSMUST00000036372
AA Change: D578G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047487
Gene: ENSMUSG00000032640
AA Change: D578G

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: 99.2%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Abcc9	A	T	6: 142,640,251 (GRCm39)	L79H	probably damaging	Het
Alb	A	G	5: 90,623,143 (GRCm39)	T601A	probably benign	Het
Aldh1l2	A	T	10: 83,331,816 (GRCm39)	L776*	probably null	Het
Ank3	A	G	10: 69,823,329 (GRCm39)	K666R		Het
Ankrd17	T	C	5: 90,391,986 (GRCm39)	T1895A	possibly damaging	Het
Ankrd17	C	T	5: 90,416,508 (GRCm39)	R1108Q	probably damaging	Het
Ap2a2	T	C	7: 141,207,815 (GRCm39)	F738L	probably benign	Het
Ap4m1	T	A	5: 138,175,445 (GRCm39)	C319*	probably null	Het
Arsj	C	T	3: 126,232,745 (GRCm39)	T497M	probably damaging	Het
Begain	G	T	12: 108,999,918 (GRCm39)	S284R	probably damaging	Het
Bicc1	A	T	10: 70,785,917 (GRCm39)	N408K	probably benign	Het
Cacybp	T	C	1: 160,031,208 (GRCm39)	M207V	possibly damaging	Het
Cct8l1	A	G	5: 25,721,336 (GRCm39)	D17G	probably benign	Het
Cd1d1	C	A	3: 86,905,939 (GRCm39)		probably null	Het
Chd3	C	T	11: 69,251,200 (GRCm39)	C554Y	probably damaging	Het
Col6a6	T	C	9: 105,663,300 (GRCm39)	Q79R	possibly damaging	Het
Cpne4	A	T	9: 104,563,738 (GRCm39)	R38S	probably damaging	Het
Cyp3a57	A	G	5: 145,318,159 (GRCm39)	D380G	probably benign	Het
Dnah6	A	T	6: 72,998,261 (GRCm39)	S4054T	probably benign	Het
Emb	G	T	13: 117,357,096 (GRCm39)		probably benign	Het
Eml5	T	C	12: 98,762,837 (GRCm39)	R1648G	probably benign	Het
Fam117b	A	T	1: 60,020,740 (GRCm39)	M537L	probably benign	Het
Fcrl2	C	T	3: 87,164,906 (GRCm39)	V207I	possibly damaging	Het
Ffar1	A	G	7: 30,560,457 (GRCm39)	S147P	probably benign	Het
Fgfr3	G	A	5: 33,885,216 (GRCm39)	R110Q	probably benign	Het
Frmd6	T	A	12: 70,933,865 (GRCm39)		probably null	Het
Fry	A	G	5: 150,401,403 (GRCm39)	R356G		Het
Fsip2	A	G	2: 82,811,039 (GRCm39)	R2453G	possibly damaging	Het
Glipr1l3	G	A	10: 111,983,923 (GRCm39)	T181I	probably benign	Het
Hoxc10	A	G	15: 102,879,382 (GRCm39)	I301V	possibly damaging	Het
Igf2bp2	T	A	16: 21,883,895 (GRCm39)	D463V	probably damaging	Het
Ints13	T	C	6: 146,467,129 (GRCm39)	D194G	probably null	Het
Kif5c	A	T	2: 49,622,792 (GRCm39)	E548V	probably damaging	Het
Lrp2	T	C	2: 69,357,979 (GRCm39)	D350G	probably damaging	Het
Lrrc61	T	C	6: 48,545,245 (GRCm39)	S23P	possibly damaging	Het
Mcpt4	T	C	14: 56,299,134 (GRCm39)	M35V	probably damaging	Het
Mical1	T	A	10: 41,357,302 (GRCm39)	M369K	possibly damaging	Het
Mre11a	T	A	9: 14,736,514 (GRCm39)	F548L	probably benign	Het
Muc20	C	T	16: 32,614,471 (GRCm39)	C302Y	possibly damaging	Het
Nlgn1	T	C	3: 25,488,622 (GRCm39)	D571G	probably damaging	Het
Nup88	T	C	11: 70,858,756 (GRCm39)	K131E	probably damaging	Het
Nwd2	A	G	5: 63,962,306 (GRCm39)	D630G	probably damaging	Het
Or3a1	A	G	11: 74,225,193 (GRCm39)	L288P	probably damaging	Het
Or5h19	C	T	16: 58,856,678 (GRCm39)	V141M	probably benign	Het
Or6c212	A	T	10: 129,558,881 (GRCm39)	C177*	probably null	Het
Pdzd8	A	T	19: 59,289,219 (GRCm39)	L727*	probably null	Het
Pi16	T	A	17: 29,546,852 (GRCm39)	N475K	probably benign	Het
Pikfyve	G	A	1: 65,307,901 (GRCm39)	A1826T	probably damaging	Het
Plxna1	A	T	6: 89,314,138 (GRCm39)	S768T	probably benign	Het
Plxnc1	T	A	10: 94,700,599 (GRCm39)	R656*	probably null	Het
Poglut1	A	G	16: 38,349,850 (GRCm39)	W308R	probably damaging	Het
Prmt9	T	G	8: 78,285,663 (GRCm39)	V165G	probably benign	Het
Ptch2	A	G	4: 116,961,969 (GRCm39)	E102G	probably damaging	Het
Rpn2	G	T	2: 157,141,500 (GRCm39)	A303S	possibly damaging	Het
Rttn	A	C	18: 89,078,576 (GRCm39)	H1334P	probably damaging	Het
Septin3	A	T	15: 82,163,739 (GRCm39)	D32V	probably damaging	Het
Sftpa1	G	T	14: 40,854,417 (GRCm39)	M1I	probably null	Het
Slc15a2	G	A	16: 36,574,080 (GRCm39)	T591I	probably benign	Het
Slc18a2	C	T	19: 59,262,791 (GRCm39)	T252I	probably benign	Het
Smchd1	A	G	17: 71,694,071 (GRCm39)	F1225L	probably damaging	Het
Sppl2c	G	A	11: 104,078,561 (GRCm39)	G454S	probably damaging	Het
Swt1	A	G	1: 151,286,767 (GRCm39)	S242P	possibly damaging	Het
Tcaim	C	A	9: 122,647,928 (GRCm39)	H148N	probably damaging	Het
Tgfbr3l	T	C	8: 4,299,640 (GRCm39)	V141A	probably damaging	Het
Ticrr	A	G	7: 79,330,735 (GRCm39)	D711G	probably damaging	Het
Trim45	A	T	3: 100,832,319 (GRCm39)	Q184L	possibly damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Usp25	G	A	16: 76,904,843 (GRCm39)	R803H	probably damaging	Het
Vmn2r71	T	A	7: 85,273,442 (GRCm39)	M752K	probably damaging	Het
Wdr35	G	A	12: 9,071,826 (GRCm39)	V893I	probably benign	Het
Zdhhc7	G	T	8: 120,814,494 (GRCm39)	P105Q	probably damaging	Het
Zfp316	A	G	5: 143,250,046 (GRCm39)		probably null	Het
Zfp454	G	C	11: 50,764,537 (GRCm39)	N298K	possibly damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (GRCm39)		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
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
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'- CCTGTCCAATTCCCTGAAGAAG -3'
(R):5'- TTCCGCTGTAAACACCAGGTC -3'

Sequencing Primer
(F):5'- CAATTCCCTGAAGAAGCTCGTTG -3'
(R):5'- GGTCCACATCACAGAAGAAGAGC -3'

Posted On

2022-04-18