Incidental Mutation 'IGL03036:Chst3'
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 #IGL03036
Quality Score
Chromosomal Location60181532-60219260 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 60186439 bp
Amino Acid Change Tyrosine to Stop codon at position 195 (Y195*)
Ref Sequence ENSEMBL: ENSMUSP00000131532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068690] [ENSMUST00000135158] [ENSMUST00000167915]
Predicted Effect probably null
Transcript: ENSMUST00000068690
AA Change: Y195*
SMART Domains Protein: ENSMUSP00000065010
Gene: ENSMUSG00000057337
AA Change: Y195*

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 null
Transcript: ENSMUST00000135158
AA Change: Y201*
SMART Domains Protein: ENSMUSP00000126281
Gene: ENSMUSG00000057337
AA Change: Y201*

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 null
Transcript: ENSMUST00000167915
AA Change: Y195*
SMART Domains Protein: ENSMUSP00000131532
Gene: ENSMUSG00000057337
AA Change: Y195*

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17a A T 10: 80,585,700 Y145* probably null Het
Afdn T G 17: 13,888,088 I1291S probably benign Het
Arfgap3 T G 15: 83,306,926 I16L possibly damaging Het
Bbs12 T A 3: 37,319,194 H45Q possibly damaging Het
Brpf3 T C 17: 28,824,048 L1021P possibly damaging Het
Cep170 A G 1: 176,769,337 S485P possibly damaging Het
Cgref1 A T 5: 30,933,593 N292K probably damaging Het
Clmn T C 12: 104,774,523 Y125C probably damaging Het
Col13a1 A G 10: 61,893,913 probably null Het
Cpeb3 A T 19: 37,024,948 I688N probably damaging Het
Cpn2 A T 16: 30,260,829 L18H probably benign Het
Crybg3 T A 16: 59,555,179 H1904L possibly damaging Het
Csde1 C T 3: 103,043,839 P249S probably damaging Het
Dcaf1 T C 9: 106,844,140 L377P probably damaging Het
Dmwd A T 7: 19,081,129 K568M probably damaging Het
Dsg2 T C 18: 20,579,077 I90T probably damaging Het
Dytn A G 1: 63,641,122 I426T probably damaging Het
Edc4 G A 8: 105,887,311 probably null Het
Elac1 G T 18: 73,738,914 Q337K probably benign Het
Exd2 G T 12: 80,489,411 A272S probably damaging Het
F13b A G 1: 139,508,115 I220V possibly damaging Het
Fblim1 G T 4: 141,583,124 R276S possibly damaging Het
Fn1 A C 1: 71,629,773 L671R probably damaging Het
Frem1 A T 4: 82,959,339 F1334I possibly damaging Het
Gm6614 T G 6: 142,008,607 I47L possibly damaging Het
H2-T23 T A 17: 36,032,357 I43F possibly damaging Het
Hp1bp3 G A 4: 138,228,732 G202D probably damaging Het
Kdm5b A G 1: 134,608,937 M632V probably damaging Het
Klra5 T A 6: 129,908,867 S20C probably damaging Het
Lancl1 A T 1: 67,006,915 C276S probably damaging Het
Lect2 A G 13: 56,542,707 *152Q probably null Het
Maff C A 15: 79,357,458 S25* probably null Het
Mtr A G 13: 12,247,377 L171P probably damaging Het
Ndufs1 A T 1: 63,163,696 Y236* probably null Het
Neb A C 2: 52,244,153 Y3273D probably damaging Het
Nup133 A T 8: 123,946,594 I66K probably benign Het
Olfr1215 T C 2: 89,002,115 M58V possibly damaging Het
Psmd14 A G 2: 61,783,861 Y200C probably damaging Het
Ptgds T C 2: 25,469,610 T22A probably benign Het
Ptk2b T A 14: 66,173,895 probably benign Het
Pum3 G A 19: 27,421,313 T279M probably damaging Het
Rabl6 C T 2: 25,584,856 G614D probably benign Het
Ripk3 T C 14: 55,787,339 D128G probably benign Het
Serinc4 A T 2: 121,439,558 probably benign Het
Sorbs2 T C 8: 45,782,865 S322P probably benign Het
Srebf1 A T 11: 60,220,458 I29N possibly damaging Het
Stk38l T C 6: 146,768,874 L238S probably damaging Het
Supt20 T A 3: 54,709,302 C298* probably null Het
Tbc1d19 A G 5: 53,897,047 D459G probably damaging Het
Thegl A C 5: 77,016,350 K67Q possibly damaging Het
Ulk2 A T 11: 61,834,834 L139M probably damaging Het
Unc13b A G 4: 43,235,249 N3279S probably damaging Het
Ush2a A G 1: 188,864,621 R3853G possibly damaging Het
Usp7 C T 16: 8,738,214 M24I probably benign Het
Vil1 A G 1: 74,419,612 T131A probably damaging Het
Vmn2r2 C T 3: 64,116,900 M753I probably benign Het
Vmn2r74 A T 7: 85,952,692 Y579* probably null Het
Zdhhc3 A T 9: 123,100,517 Y18N probably damaging Het
Zfp609 C T 9: 65,702,645 S1012N possibly damaging Het
Zfr2 A T 10: 81,242,151 M271L probably benign 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
IGL01760:Chst3 APN 10 60186470 missense probably damaging 1.00
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 On2016-08-02