Incidental Mutation 'IGL00498:Chst3'
ID9710
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 #IGL00498
Quality Score
Status
Chromosome10
Chromosomal Location60181532-60219260 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 60185619 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 469 (F469L)
Ref Sequence ENSEMBL: ENSMUSP00000131532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068690] [ENSMUST00000135158] [ENSMUST00000167915]
Predicted Effect possibly damaging
Transcript: ENSMUST00000068690
AA Change: F469L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000065010
Gene: ENSMUSG00000057337
AA Change: F469L

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 possibly damaging
Transcript: ENSMUST00000135158
AA Change: F475L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126281
Gene: ENSMUSG00000057337
AA Change: F475L

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 possibly damaging
Transcript: ENSMUST00000167915
AA Change: F469L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131532
Gene: ENSMUSG00000057337
AA Change: F469L

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik G A 2: 68,601,898 G128R unknown Het
Acsm5 T C 7: 119,542,438 probably null Het
Atad2 A C 15: 58,116,820 F423V probably damaging Het
Carmil3 T A 14: 55,501,895 probably null Het
Cdc42bpa A C 1: 180,106,121 E775A probably damaging Het
Cfdp1 T C 8: 111,840,478 E133G probably benign Het
Dbx1 T C 7: 49,636,474 D81G probably benign Het
Dmp1 A G 5: 104,210,155 probably benign Het
Dnah8 A G 17: 30,677,176 T855A probably benign Het
Fbxw2 C T 2: 34,805,941 A250T probably damaging Het
Fcgbp T C 7: 28,091,797 C828R probably damaging Het
Gmfg G T 7: 28,446,385 R83L possibly damaging Het
Gpr37l1 A G 1: 135,161,702 probably benign Het
Hcfc1r1 G A 17: 23,674,008 R9Q probably damaging Het
Hsd17b1 A T 11: 101,080,058 H280L possibly damaging Het
Hsd17b12 A C 2: 94,083,165 probably null Het
Itga1 A G 13: 115,031,193 V99A probably benign Het
Kcnn1 A G 8: 70,852,880 S229P probably damaging Het
Klhdc8a A G 1: 132,303,018 N207S probably benign Het
Lrrtm4 T C 6: 80,022,546 W314R probably damaging Het
Malrd1 T C 2: 16,142,186 probably benign Het
Marcks T C 10: 37,138,517 K7E probably damaging Het
Mov10 A G 3: 104,800,947 probably benign Het
Pclo A T 5: 14,540,739 T1018S unknown Het
Sdk1 T C 5: 142,085,606 Y1184H probably damaging Het
Slc6a18 A T 13: 73,671,719 M244K possibly damaging Het
Snx19 C T 9: 30,428,937 T457I possibly damaging Het
Stard3 T A 11: 98,376,530 V158D possibly damaging Het
Tnks G T 8: 34,861,689 probably benign Het
Ugt2b34 A G 5: 86,901,225 S314P probably damaging Het
Usp15 G A 10: 123,113,596 S952L probably benign Het
Utp11 A G 4: 124,679,739 V214A possibly damaging Het
Other mutations in Chst3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01301:Chst3 APN 10 60185832 missense probably damaging 1.00
IGL01760:Chst3 APN 10 60186470 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 On2012-12-06