Incidental Mutation 'IGL03266:Chst15'
ID415087
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chst15
Ensembl Gene ENSMUSG00000030930
Gene Namecarbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15
SynonymsMAd5, GalNAcS-6ST, MAd5, 4631426J05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL03266
Quality Score
Status
Chromosome7
Chromosomal Location132235780-132317228 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 132270076 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 159 (I159F)
Ref Sequence ENSEMBL: ENSMUSP00000079105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077472] [ENSMUST00000080215] [ENSMUST00000124096]
Predicted Effect probably damaging
Transcript: ENSMUST00000077472
AA Change: I159F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076682
Gene: ENSMUSG00000030930
AA Change: I159F

DomainStartEndE-ValueType
transmembrane domain 80 102 N/A INTRINSIC
Pfam:Sulfotransfer_3 254 502 4.2e-10 PFAM
Pfam:Sulfotransfer_1 369 524 1.1e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000080215
AA Change: I159F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079105
Gene: ENSMUSG00000030930
AA Change: I159F

DomainStartEndE-ValueType
transmembrane domain 80 102 N/A INTRINSIC
Pfam:Sulfotransfer_3 254 499 7.9e-9 PFAM
Pfam:Sulfotransfer_1 369 524 1.2e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132508
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Chondroitin sulfate (CS) is a glycosaminoglycan which is an important structural component of the extracellular matrix and which links to proteins to form proteoglycans. Chondroitin sulfate E (CS-E) is an isomer of chondroitin sulfate in which the C-4 and C-6 hydroxyl groups are sulfated. This gene encodes a type II transmembrane glycoprotein that acts as a sulfotransferase to transfer sulfate to the C-6 hydroxal group of chondroitin sulfate. This gene has also been identified as being co-expressed with RAG1 in B-cells and as potentially acting as a B-cell surface signaling receptor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased litter size and abnormal bone marrow-derived mast cell morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A T 6: 88,838,934 V185E probably damaging Het
Acly T C 11: 100,483,752 E815G probably damaging Het
Actr10 T G 12: 70,956,666 S261A probably benign Het
Als2cl T C 9: 110,890,856 V504A possibly damaging Het
Btla T C 16: 45,239,275 I114T probably damaging Het
Cacna2d3 T A 14: 29,300,748 I348L probably benign Het
Creld1 T A 6: 113,489,597 H208Q probably benign Het
E330021D16Rik T C 6: 136,400,923 E303G probably damaging Het
Fap C T 2: 62,537,022 V334I probably benign Het
Fat2 C T 11: 55,284,029 V1953M possibly damaging Het
Fgfr3 G A 5: 33,734,365 A595T probably damaging Het
Gm8122 T A 14: 43,232,659 M125L unknown Het
Klk1b1 T G 7: 43,970,476 L153R probably benign Het
Lrig3 T A 10: 126,013,282 M957K probably benign Het
Mc3r C T 2: 172,249,269 A137V probably benign Het
Met T A 6: 17,540,538 L821Q possibly damaging Het
Mrps17 T C 5: 129,716,742 probably benign Het
Myh2 A G 11: 67,176,324 T202A probably benign Het
Nae1 T C 8: 104,513,196 probably benign Het
Pkhd1l1 T A 15: 44,538,952 I2240N probably damaging Het
Ssfa2 G A 2: 79,642,190 probably null Het
Stat6 T C 10: 127,657,155 L552P possibly damaging Het
Trbv3 C A 6: 41,048,724 Q83K probably benign Het
Uaca A T 9: 60,863,407 D344V probably damaging Het
Uggt1 A T 1: 36,150,048 D1452E probably damaging Het
Vwf T C 6: 125,678,077 probably benign Het
Other mutations in Chst15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01710:Chst15 APN 7 132270507 missense probably benign 0.22
IGL01879:Chst15 APN 7 132270265 missense possibly damaging 0.94
IGL02355:Chst15 APN 7 132266672 missense probably benign 0.26
IGL02362:Chst15 APN 7 132266672 missense probably benign 0.26
IGL02826:Chst15 APN 7 132266746 missense probably damaging 1.00
IGL02860:Chst15 APN 7 132269102 missense probably benign
IGL02972:Chst15 APN 7 132269173 missense probably damaging 1.00
IGL03331:Chst15 APN 7 132262713 missense probably damaging 1.00
IGL03375:Chst15 APN 7 132270457 nonsense probably null
R1476:Chst15 UTSW 7 132270273 missense possibly damaging 0.95
R1501:Chst15 UTSW 7 132269069 nonsense probably null
R1518:Chst15 UTSW 7 132270126 missense probably damaging 1.00
R1943:Chst15 UTSW 7 132262850 splice site probably null
R2164:Chst15 UTSW 7 132270385 missense probably damaging 0.97
R3947:Chst15 UTSW 7 132247875 missense probably damaging 1.00
R4921:Chst15 UTSW 7 132247884 missense probably benign 0.01
R5817:Chst15 UTSW 7 132269144 missense probably damaging 0.99
R5817:Chst15 UTSW 7 132269147 missense probably damaging 0.99
R5917:Chst15 UTSW 7 132270517 missense probably benign
R6930:Chst15 UTSW 7 132269030 missense possibly damaging 0.95
R7159:Chst15 UTSW 7 132270258 missense probably damaging 1.00
R7911:Chst15 UTSW 7 132270522 missense probably benign 0.12
R7992:Chst15 UTSW 7 132270522 missense probably benign 0.12
Posted On2016-08-02