Incidental Mutation 'IGL01710:Chst15'
ID104748
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: 0.077) question?
Stock #IGL01710
Quality Score
Status
Chromosome7
Chromosomal Location132235780-132317228 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 132270507 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 15 (D15V)
Ref Sequence ENSEMBL: ENSMUSP00000079105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077472] [ENSMUST00000080215] [ENSMUST00000124096]
Predicted Effect probably benign
Transcript: ENSMUST00000077472
AA Change: D15V

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000076682
Gene: ENSMUSG00000030930
AA Change: D15V

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 benign
Transcript: ENSMUST00000080215
AA Change: D15V

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000079105
Gene: ENSMUSG00000030930
AA Change: D15V

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 G A 18: 61,871,574 T48I probably damaging Het
Ccpg1 T C 9: 72,997,441 probably benign Het
Chkb G A 15: 89,426,640 Q379* probably null Het
Cntn4 G A 6: 106,550,431 V425I possibly damaging Het
Cpa6 T A 1: 10,325,272 N390I probably damaging Het
Efhd2 A G 4: 141,860,561 F193S probably damaging Het
Ell3 T C 2: 121,441,512 H128R probably damaging Het
Ercc5 T G 1: 44,164,075 L291V probably damaging Het
Eva1c A G 16: 90,904,347 Y302C probably damaging Het
Fmo3 A C 1: 162,983,043 L26R probably damaging Het
Galntl6 T A 8: 58,535,968 D17V probably damaging Het
Gm6483 C T 8: 19,691,613 P55S probably damaging Het
Gstt2 A G 10: 75,833,745 probably benign Het
Hmcn2 T A 2: 31,343,102 L221Q probably damaging Het
Hoxa3 T C 6: 52,170,574 probably benign Het
Kctd12b T C X: 153,689,483 D70G probably damaging Het
Kdm7a T A 6: 39,175,386 E125D probably benign Het
Klk1b21 T A 7: 44,106,495 F249L probably benign Het
Mrpl41 T C 2: 24,974,417 D81G possibly damaging Het
Nomo1 T A 7: 46,038,556 L82Q probably damaging Het
Olfr482 G T 7: 108,095,242 F109L probably benign Het
Papolg A T 11: 23,864,026 S718T probably damaging Het
Pex6 A G 17: 46,725,326 probably benign Het
Pi4k2a T A 19: 42,104,979 L253Q probably damaging Het
Prdx6b T A 2: 80,293,146 F100I probably damaging Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Ptgfrn T C 3: 101,073,088 E312G probably damaging Het
Rasgrf1 A G 9: 89,991,692 I685V probably benign Het
Setdb1 T C 3: 95,338,853 E586G probably damaging Het
Sez6l2 C A 7: 126,968,216 T841K probably damaging Het
Slc25a17 A T 15: 81,327,326 L163* probably null Het
Slc35f3 A T 8: 126,389,161 I276F probably benign Het
Tcerg1l T A 7: 138,395,060 K149N possibly damaging Het
Tex28 T A X: 74,152,333 K278* probably null Het
Tmprss9 A G 10: 80,897,959 probably benign Het
Tnfaip8l1 A G 17: 56,171,782 K24R probably benign Het
Trim36 T C 18: 46,188,388 probably benign Het
Uba1 C T X: 20,671,365 T274I possibly damaging Het
Ubr2 T C 17: 46,943,409 T1439A probably benign Het
Ubr4 A G 4: 139,418,461 D1523G possibly damaging Het
Uchl4 A T 9: 64,235,506 T90S probably benign Het
Other mutations in Chst15
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03266:Chst15 APN 7 132270076 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 On2014-01-21