Incidental Mutation 'IGL01760:Chst3'
ID153244
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chst3
Ensembl Gene ENSMUSG00000057337
Gene Namecarbohydrate (chondroitin 6/keratan) sulfotransferase 3
SynonymsGST-0, C6ST-1, C6ST
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.197) question?
Stock #IGL01760
Quality Score
Status
Chromosome10
Chromosomal Location60181532-60219260 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 60186470 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 185 (V185D)
Ref Sequence ENSEMBL: ENSMUSP00000131532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068690] [ENSMUST00000135158] [ENSMUST00000167915]
Predicted Effect probably damaging
Transcript: ENSMUST00000068690
AA Change: V185D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065010
Gene: ENSMUSG00000057337
AA Change: V185D

DomainStartEndE-ValueType
transmembrane domain 20 38 N/A INTRINSIC
low complexity region 68 83 N/A INTRINSIC
low complexity region 88 101 N/A INTRINSIC
Pfam:Sulfotransfer_1 126 445 4.2e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000135158
AA Change: V191D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126281
Gene: ENSMUSG00000057337
AA Change: V191D

DomainStartEndE-ValueType
transmembrane domain 26 44 N/A INTRINSIC
low complexity region 74 89 N/A INTRINSIC
low complexity region 94 107 N/A INTRINSIC
Pfam:Sulfotransfer_1 132 451 4.9e-57 PFAM
Pfam:Sulfotransfer_3 133 391 1.5e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167915
AA Change: V185D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131532
Gene: ENSMUSG00000057337
AA Change: V185D

DomainStartEndE-ValueType
transmembrane domain 20 38 N/A INTRINSIC
low complexity region 68 83 N/A INTRINSIC
low complexity region 88 101 N/A INTRINSIC
Pfam:Sulfotransfer_1 126 445 4.2e-57 PFAM
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 an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous mutation of this gene results in significantly reduced numbers of naive T lymphocytes in the spleen at 5-6 weeks of age. Brain development and morphology is normal in mutant animals but for some alleles behavioral abnormalities are seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T A 8: 83,731,957 T147S probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Col14a1 A C 15: 55,423,459 D892A unknown Het
Dopey1 A G 9: 86,519,923 T1059A probably benign Het
Erlec1 A C 11: 30,934,731 S441A probably benign Het
Frmd4b G T 6: 97,308,702 T289N probably damaging Het
Gm2016 A T 12: 87,877,021 probably benign Het
Gm6133 G A 18: 78,350,175 R128Q probably benign Het
Gnai2 A G 9: 107,616,518 S155P probably damaging Het
Hspg2 T C 4: 137,512,671 S517P possibly damaging Het
Ighv9-1 C A 12: 114,094,194 E29* probably null Het
Lrp1 T C 10: 127,573,501 K1583R probably benign Het
Ltbp1 C T 17: 75,227,150 T211M probably damaging Het
Mttp A G 3: 138,111,736 S418P probably benign Het
Napa A G 7: 16,098,744 N23S possibly damaging Het
Odf2 C A 2: 29,914,460 Q347K probably damaging Het
Ogdhl A G 14: 32,339,937 D504G probably damaging Het
Olfr433 T C 1: 174,042,625 L225P probably damaging Het
Pdxdc1 A T 16: 13,859,152 N273K probably damaging Het
Rslcan18 T C 13: 67,113,951 I11V probably benign Het
Spidr G T 16: 15,912,560 R664S possibly damaging Het
Tead3 T C 17: 28,333,081 N385S probably benign Het
Trim13 T A 14: 61,605,723 N396K probably benign Het
Trp53bp2 C T 1: 182,448,428 A160V possibly damaging Het
Vmn2r69 A G 7: 85,406,864 S689P possibly damaging Het
Vmn2r79 A T 7: 87,002,158 Q255L probably benign Het
Wsb1 T C 11: 79,242,041 Y276C probably damaging Het
Zfp236 G T 18: 82,621,422 N1233K probably damaging Het
Other mutations in Chst3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Chst3 APN 10 60185619 missense possibly damaging 0.90
IGL01301:Chst3 APN 10 60185832 missense probably damaging 1.00
IGL03036:Chst3 APN 10 60186439 nonsense probably null
ANU18:Chst3 UTSW 10 60185832 missense probably damaging 1.00
R0462:Chst3 UTSW 10 60186713 missense probably benign
R0501:Chst3 UTSW 10 60186227 missense probably damaging 0.99
R1698:Chst3 UTSW 10 60185703 missense probably benign 0.19
R1807:Chst3 UTSW 10 60186308 missense probably benign 0.22
R4250:Chst3 UTSW 10 60186068 missense probably damaging 0.96
Z1176:Chst3 UTSW 10 60185676 missense possibly damaging 0.56
Z1177:Chst3 UTSW 10 60186260 missense probably benign 0.03
Posted On2014-02-04