Incidental Mutation 'IGL02961:Chsy1'
ID365359
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 #IGL02961
Quality Score
Status
Chromosome7
Chromosomal Location66109515-66173798 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 66171782 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 588 (D588E)
Ref Sequence ENSEMBL: ENSMUSP00000047487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036372]
Predicted Effect probably benign
Transcript: ENSMUST00000036372
AA Change: D588E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000047487
Gene: ENSMUSG00000032640
AA Change: D588E

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
Adgrv1 A G 13: 81,523,612 V2288A probably damaging Het
Agbl4 T A 4: 110,580,121 N76K probably damaging Het
AI182371 A T 2: 35,086,112 V258E possibly damaging Het
Alg1 T A 16: 5,234,997 N80K probably benign Het
Ambra1 A G 2: 91,911,448 M963V possibly damaging Het
Avil C A 10: 127,008,306 Q245K probably benign Het
Caml A G 13: 55,631,882 N256S probably benign Het
Ccdc102a A C 8: 94,903,350 I521S possibly damaging Het
Ccm2l A G 2: 153,078,601 T393A probably benign Het
Cdh16 A G 8: 104,615,205 V91A probably damaging Het
Chd7 A G 4: 8,751,542 D13G probably damaging Het
Cilp T A 9: 65,278,609 V662E possibly damaging Het
Cog8 A G 8: 107,056,253 probably benign Het
Cpb2 T C 14: 75,265,383 V134A probably benign Het
Ctcfl T A 2: 173,101,919 H546L possibly damaging Het
Dclre1c A G 2: 3,437,033 D136G probably damaging Het
Dnah2 T A 11: 69,518,414 E379D probably damaging Het
Extl3 A G 14: 65,056,959 Y808H possibly damaging Het
Gm7247 T A 14: 51,365,355 N49K probably damaging Het
Gm8882 A T 6: 132,361,408 F282L unknown Het
Insr T C 8: 3,258,785 I84V probably benign Het
Ipo7 C T 7: 110,047,016 P541S probably benign Het
Kcnc3 T C 7: 44,591,492 S203P probably damaging Het
Myo5a A G 9: 75,215,120 D1732G probably benign Het
Olfr1419 T A 19: 11,870,331 N295I probably damaging Het
Olfr153 A G 2: 87,532,684 Y217C probably damaging Het
Olfr493 T C 7: 108,346,127 I285V probably benign Het
Olfr646 C A 7: 104,107,150 Y290* probably null Het
Olfr986 T C 9: 40,187,601 V162A probably benign Het
Pde3a T A 6: 141,459,700 L426* probably null Het
Pkd1 T A 17: 24,578,115 D8E possibly damaging Het
Polr3a A T 14: 24,467,040 Y714* probably null Het
Pramef25 T C 4: 143,949,147 T370A probably damaging Het
Rasgrf1 T C 9: 89,981,649 V556A possibly damaging Het
Rev3l T C 10: 39,827,945 Y1996H possibly damaging Het
Rttn T C 18: 89,053,573 L1248P probably damaging Het
Slc11a1 T C 1: 74,377,173 L53P probably damaging Het
Slc22a27 T C 19: 7,926,521 R84G probably damaging Het
Sptbn4 A G 7: 27,397,967 L1302P probably damaging Het
Srm T C 4: 148,594,129 V271A possibly damaging Het
Sycp2 A G 2: 178,380,862 I492T probably benign Het
Tmprss13 A G 9: 45,345,003 T472A probably damaging Het
Togaram1 A G 12: 64,966,710 D245G probably damaging Het
Vmn1r184 A T 7: 26,267,650 I274L probably benign Het
Vmn1r21 T C 6: 57,843,989 M157V probably benign Het
Wdr90 C A 17: 25,848,675 E1420* probably null Het
Zfp518a A T 19: 40,915,018 R1130S probably benign 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
IGL03290:Chsy1 APN 7 66171031 missense probably benign 0.15
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 On2015-12-18