Mutagenetix > Incidental Mutation

Incidental Mutation 'R1812:Chsy1'

202470

Institutional Source

Beutler Lab

Gene Symbol

Chsy1

Ensembl Gene

ENSMUSG00000032640

Gene Name

chondroitin sulfate synthase 1

Synonyms

skt

MMRRC Submission

039840-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1812 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65759263-65823546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 65821565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 600 (V600G)

Ref Sequence

ENSEMBL: ENSMUSP00000047487 (fasta)

Gene Model

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

AlphaFold

Q6ZQ11

Predicted Effect

probably benign
Transcript: ENSMUST00000036372
AA Change: V600G

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000047487
Gene: ENSMUSG00000032640
AA Change: V600G

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

Coding Region Coverage

1x: 97.3%
3x: 96.3%
10x: 93.2%
20x: 85.7%

Validation Efficiency

100% (1/1)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	A	9: 57,164,740 (GRCm39)	Q545*	probably null	Het
Aadacl2	T	C	3: 59,932,498 (GRCm39)	C338R	probably damaging	Het
Abcb4	G	A	5: 8,978,578 (GRCm39)		probably null	Het
Adam17	T	C	12: 21,411,768 (GRCm39)	D41G	probably damaging	Het
Angptl7	T	A	4: 148,582,540 (GRCm39)	I119F	probably damaging	Het
Arid1b	T	A	17: 5,387,304 (GRCm39)	S1586T	probably benign	Het
Arid4b	C	T	13: 14,370,014 (GRCm39)	A1170V	probably damaging	Het
Atad5	A	G	11: 80,023,873 (GRCm39)	T1659A	probably damaging	Het
Bub1b	T	G	2: 118,462,902 (GRCm39)	D754E	probably benign	Het
Cdkn1a	T	C	17: 29,317,539 (GRCm39)	V53A	probably benign	Het
Cntrl	G	A	2: 35,039,481 (GRCm39)	V561M	probably damaging	Het
Col6a5	A	G	9: 105,805,253 (GRCm39)	C1218R	unknown	Het
Crhr1	T	C	11: 104,059,973 (GRCm39)	L140P	probably damaging	Het
Cyb5b	CAGAG	CAG	8: 107,897,020 (GRCm39)		probably null	Het
Cyp3a59	A	T	5: 146,039,621 (GRCm39)	Q298L	probably damaging	Het
Dctn1	A	G	6: 83,169,500 (GRCm39)	E638G	possibly damaging	Het
Ddx41	A	G	13: 55,683,767 (GRCm39)	I88T	probably benign	Het
Dennd11	A	G	6: 40,386,365 (GRCm39)	I288T	probably benign	Het
Diaph1	G	T	18: 38,024,071 (GRCm39)	P589Q	unknown	Het
Dip2b	C	A	15: 100,096,819 (GRCm39)		probably null	Het
Dscaml1	G	A	9: 45,662,584 (GRCm39)		probably null	Het
Dync1h1	C	T	12: 110,629,334 (GRCm39)	A4246V	possibly damaging	Het
Epb41l1	T	C	2: 156,338,431 (GRCm39)	I158T	probably damaging	Het
Fat1	A	G	8: 45,489,840 (GRCm39)	Y3584C	probably damaging	Het
Fxyd5	T	A	7: 30,737,355 (GRCm39)		probably null	Het
Gapvd1	T	A	2: 34,615,076 (GRCm39)	K336*	probably null	Het
Gm9637	G	A	14: 19,402,395 (GRCm38)		noncoding transcript	Het
Gpr65	C	T	12: 98,242,001 (GRCm39)	T218M	probably damaging	Het
Gsdma3	T	C	11: 98,523,219 (GRCm39)	V203A	probably damaging	Het
Helb	T	A	10: 119,925,471 (GRCm39)	K969*	probably null	Het
Hipk2	G	A	6: 38,675,098 (GRCm39)	A1188V	probably benign	Het
Itpk1	T	A	12: 102,540,317 (GRCm39)	E255D	probably benign	Het
Kif21a	T	C	15: 90,855,969 (GRCm39)	D596G	possibly damaging	Het
Kif5a	A	T	10: 127,077,879 (GRCm39)	I405N	probably benign	Het
Klk1b11	T	A	7: 43,427,179 (GRCm39)		probably null	Het
Luzp1	T	A	4: 136,269,642 (GRCm39)	L622M	probably benign	Het
Macf1	T	A	4: 123,325,817 (GRCm39)	I5227F	probably damaging	Het
Mapk10	A	C	5: 103,061,128 (GRCm39)	S470A	probably damaging	Het
Morc2a	C	T	11: 3,635,831 (GRCm39)	T897I	probably damaging	Het
Nmbr	A	G	10: 14,636,283 (GRCm39)		probably null	Het
Nosip	T	A	7: 44,725,998 (GRCm39)	M214K	probably damaging	Het
Or13c7d	G	T	4: 43,770,230 (GRCm39)	Y260*	probably null	Het
Or52m2	A	T	7: 102,263,577 (GRCm39)	N206K	possibly damaging	Het
Or52r1	T	C	7: 102,537,285 (GRCm39)	Y25C	probably benign	Het
Or5w13	A	G	2: 87,523,447 (GRCm39)	F260L	probably benign	Het
Pik3c2a	A	T	7: 116,016,899 (GRCm39)	V286E	probably damaging	Het
Ppfia4	T	A	1: 134,252,311 (GRCm39)	I388F	probably benign	Het
Ppm1f	A	G	16: 16,735,651 (GRCm39)	H289R	probably damaging	Het
Ptprz1	T	A	6: 22,959,711 (GRCm39)	D69E	probably benign	Het
Rad54b	A	T	4: 11,612,770 (GRCm39)	T801S	probably damaging	Het
Ramp1	A	T	1: 91,124,579 (GRCm39)	N47Y	probably damaging	Het
Rnf32	T	A	5: 29,411,258 (GRCm39)	H181Q	possibly damaging	Het
Rpa2	T	C	4: 132,495,996 (GRCm39)	F6L	probably benign	Het
Ryr2	C	A	13: 11,575,472 (GRCm39)	R4842L	probably damaging	Het
Scn11a	G	T	9: 119,609,931 (GRCm39)	C972*	probably null	Het
Setd2	C	T	9: 110,379,170 (GRCm39)	T995I	probably damaging	Het
Slc39a7	A	G	17: 34,247,789 (GRCm39)	L471P	probably damaging	Het
Slc6a21	C	G	7: 44,932,371 (GRCm39)	S350R	probably damaging	Het
Slx4ip	A	G	2: 136,910,115 (GRCm39)	N300S	probably benign	Het
Spef2	G	A	15: 9,679,435 (GRCm39)	P634L	probably damaging	Het
Stk32b	G	A	5: 37,624,102 (GRCm39)	A215V	probably damaging	Het
Svil	A	T	18: 5,097,545 (GRCm39)	Y1676F	probably damaging	Het
Tanc1	G	A	2: 59,622,023 (GRCm39)	V381M	probably damaging	Het
Tanc2	T	C	11: 105,777,212 (GRCm39)	F797L	probably benign	Het
Tas2r120	T	G	6: 132,634,564 (GRCm39)	C215W	probably benign	Het
Tenm4	G	A	7: 96,545,147 (GRCm39)	D2388N	probably damaging	Het
Thsd4	C	T	9: 59,964,220 (GRCm39)	S64N	probably damaging	Het
Thsd7b	C	T	1: 129,686,347 (GRCm39)	R630C	probably damaging	Het
Top3a	A	G	11: 60,650,188 (GRCm39)	I145T	probably damaging	Het
Vmn2r78	A	G	7: 86,569,995 (GRCm39)	D171G	probably benign	Het
Vmn2r82	A	G	10: 79,215,046 (GRCm39)	E343G	probably benign	Het
Wdr70	T	C	15: 8,108,663 (GRCm39)	D161G	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
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
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'- CGCTTCGACATGTTTGTGAG -3'
(R):5'- GGCAAAATGGTTGTCACTGGG -3'

Sequencing Primer
(F):5'- CTTCGACATGTTTGTGAGGTTCATG -3'
(R):5'- CAAAATGGTTGTCACTGGGAACCTTC -3'

Posted On

2014-06-23