Incidental Mutation 'IGL03290:Chsy1'
ID415869
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chsy1
Ensembl Gene ENSMUSG00000032640
Gene Namechondroitin sulfate synthase 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03290
Quality Score
Status
Chromosome7
Chromosomal Location66109515-66173798 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 66171031 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 338 (V338A)
Ref Sequence ENSEMBL: ENSMUSP00000047487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036372]
Predicted Effect probably benign
Transcript: ENSMUST00000036372
AA Change: V338A

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000047487
Gene: ENSMUSG00000032640
AA Change: V338A

DomainStartEndE-ValueType
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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,703,423 probably benign Het
Asb18 A G 1: 90,014,574 S2P probably damaging Het
Atp2b2 A G 6: 113,793,754 F398S probably damaging Het
BC034090 T G 1: 155,226,110 D136A probably damaging Het
Ces5a A C 8: 93,519,632 F310V probably damaging Het
Dbh A G 2: 27,174,932 E385G probably damaging Het
Dnah14 T A 1: 181,763,978 probably benign Het
F2rl1 A G 13: 95,513,589 S262P possibly damaging Het
Fat2 T C 11: 55,256,219 N3984D probably benign Het
Fbxo38 A T 18: 62,526,163 H354Q probably benign Het
Fgf6 T A 6: 127,024,132 V201D probably damaging Het
Gm16181 A T 17: 35,223,957 probably benign Het
Gm6811 T C 17: 21,094,049 noncoding transcript Het
Gna11 A G 10: 81,530,937 F313S probably damaging Het
Gprc6a C T 10: 51,615,872 A523T probably damaging Het
Il22 T C 10: 118,205,880 probably null Het
Insr T C 8: 3,258,574 Y154C probably damaging Het
Irak4 T A 15: 94,551,899 D86E probably benign Het
Itk C A 11: 46,334,937 W529L probably damaging Het
Klhl6 C A 16: 19,947,137 A572S probably benign Het
Ldhc C T 7: 46,869,688 R112C probably damaging Het
Lrrc56 T C 7: 141,199,772 probably benign Het
Mdh2 A G 5: 135,789,713 E274G probably damaging Het
N4bp1 G T 8: 86,848,533 D711E probably benign Het
Ngly1 T A 14: 16,281,866 I248K probably damaging Het
Olfr324 A G 11: 58,598,323 N309S probably damaging Het
Olfr872 T C 9: 20,260,260 I140T probably damaging Het
Pbrm1 A G 14: 31,107,284 E1421G probably damaging Het
Pcca G A 14: 122,585,106 R112H possibly damaging Het
Pgrmc2 T C 3: 41,068,626 probably benign Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Pogz A T 3: 94,875,091 probably benign Het
Ppp1r3a A G 6: 14,754,772 Y159H probably damaging Het
Rax T C 18: 65,938,160 K135E probably damaging Het
Rbm7 T A 9: 48,489,967 M154L probably benign Het
Rp1 A G 1: 4,350,041 S283P probably damaging Het
Rpusd4 T C 9: 35,267,977 S30P probably benign Het
Samd13 T C 3: 146,646,315 T75A probably benign Het
Sfxn4 A G 19: 60,860,070 W22R probably damaging Het
Sh3pxd2a T A 19: 47,424,516 R43W probably damaging Het
Smc5 A G 19: 23,273,658 V54A probably benign Het
Snap47 A G 11: 59,428,598 I238T probably damaging Het
Tecpr2 T G 12: 110,967,833 I1309S possibly damaging Het
Trappc8 A G 18: 20,820,935 L1310P probably damaging Het
Vmn2r61 T A 7: 42,265,984 H118Q probably benign Het
Zbtb17 C T 4: 141,466,933 T731I probably damaging Het
Zfp287 A G 11: 62,715,236 F282L probably damaging Het
Other mutations in Chsy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:Chsy1 APN 7 66172126 missense possibly damaging 0.70
IGL01734:Chsy1 APN 7 66171310 missense probably damaging 0.98
IGL02037:Chsy1 APN 7 66171828 missense possibly damaging 0.69
IGL02797:Chsy1 APN 7 66171664 missense probably damaging 1.00
IGL02961:Chsy1 APN 7 66171782 missense probably benign 0.00
IGL03292:Chsy1 APN 7 66125372 missense probably benign 0.02
deprimido UTSW 7 66171687 missense probably damaging 1.00
Elevado UTSW 7 66110076 nonsense probably null
R0669:Chsy1 UTSW 7 66171687 missense probably damaging 1.00
R1336:Chsy1 UTSW 7 66125239 splice site probably null
R1499:Chsy1 UTSW 7 66172002 missense probably damaging 1.00
R1640:Chsy1 UTSW 7 66171514 missense probably benign 0.34
R1674:Chsy1 UTSW 7 66171663 missense probably damaging 1.00
R1812:Chsy1 UTSW 7 66171817 missense probably benign 0.12
R1934:Chsy1 UTSW 7 66172243 missense probably damaging 1.00
R2964:Chsy1 UTSW 7 66172164 missense probably damaging 1.00
R2965:Chsy1 UTSW 7 66172164 missense probably damaging 1.00
R2966:Chsy1 UTSW 7 66172164 missense probably damaging 1.00
R3692:Chsy1 UTSW 7 66171253 missense probably damaging 1.00
R4890:Chsy1 UTSW 7 66110226 missense probably benign 0.00
R5373:Chsy1 UTSW 7 66110076 nonsense probably null
R5936:Chsy1 UTSW 7 66172277 missense possibly damaging 0.89
R6149:Chsy1 UTSW 7 66125385 missense probably damaging 1.00
R6192:Chsy1 UTSW 7 66170877 missense probably benign 0.29
R6653:Chsy1 UTSW 7 66110193 missense probably benign 0.10
R6848:Chsy1 UTSW 7 66171037 missense probably damaging 1.00
R7318:Chsy1 UTSW 7 66110229 critical splice donor site probably null
X0012:Chsy1 UTSW 7 66172168 missense probably damaging 1.00
X0063:Chsy1 UTSW 7 66171924 missense probably benign 0.05
Posted On2016-08-02