Incidental Mutation 'IGL02972:Chst15'
ID365871
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 #IGL02972
Quality Score
Status
Chromosome7
Chromosomal Location132235780-132317228 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 132269173 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 211 (D211G)
Ref Sequence ENSEMBL: ENSMUSP00000079105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077472] [ENSMUST00000080215] [ENSMUST00000124096]
Predicted Effect probably damaging
Transcript: ENSMUST00000077472
AA Change: D211G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000076682
Gene: ENSMUSG00000030930
AA Change: D211G

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: D211G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000079105
Gene: ENSMUSG00000030930
AA Change: D211G

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
2410137M14Rik T A 17: 36,978,520 I105F possibly damaging Het
Bmpr1b C T 3: 141,870,758 D105N probably benign Het
Ces2e A T 8: 104,927,061 S44C probably damaging Het
Chd7 T A 4: 8,855,174 N2134K probably benign Het
Dpp4 T C 2: 62,352,225 S571G probably damaging Het
Gna11 T C 10: 81,533,391 I113V probably benign Het
Grm3 T C 5: 9,512,410 Y480C probably damaging Het
Mccc1 C T 3: 35,985,089 V252I possibly damaging Het
Nol12 A G 15: 78,940,599 T209A probably damaging Het
Olfr1384 G A 11: 49,514,091 G151D probably damaging Het
Olfr622 A G 7: 103,639,894 M82T probably damaging Het
Olfr859 T C 9: 19,808,942 F208S probably damaging Het
P3h1 C A 4: 119,247,960 Q712K possibly damaging Het
Per2 T A 1: 91,423,981 E934D possibly damaging Het
Pfkl T C 10: 77,988,274 D760G probably benign Het
Piezo2 C A 18: 63,064,785 probably benign Het
Pkd1l1 C T 11: 8,863,908 R1481Q probably damaging Het
Plpp3 T C 4: 105,208,792 V189A possibly damaging Het
Pnpla1 A G 17: 28,886,947 E592G probably null Het
Prdm2 A T 4: 143,132,166 M1518K probably benign Het
Rhbdl3 G A 11: 80,331,916 probably benign Het
Rnf145 C T 11: 44,564,038 S582F probably benign Het
Rsf1 A G 7: 97,661,326 D421G probably benign Het
Serac1 A C 17: 6,070,764 L85* probably null Het
Slc43a1 T G 2: 84,860,118 V460G probably damaging Het
Slc7a6 G A 8: 106,179,427 C97Y probably damaging Het
Slco5a1 A T 1: 12,990,155 L114* probably null Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Taok1 A G 11: 77,559,758 V396A probably benign Het
Tmem232 T A 17: 65,476,673 H233L probably benign Het
Tmprss11c C T 5: 86,237,833 S247N possibly damaging Het
Tnc C T 4: 63,976,478 S1557N probably benign Het
Txlng A G X: 162,807,555 M94T probably damaging Het
Ube2b A T 11: 51,988,682 I87K probably damaging Het
Ubr5 A T 15: 38,041,952 S133R probably damaging Het
Ugt1a5 C T 1: 88,166,422 T124I probably benign Het
Vamp1 G T 6: 125,219,647 R117L probably benign Het
Vmn1r87 G T 7: 13,132,329 Y10* probably null Het
Zan G A 5: 137,463,686 T1077I unknown Het
Zc2hc1b C A 10: 13,171,281 V29F probably damaging Het
Zfp597 T C 16: 3,866,523 D123G 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
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
R8282:Chst15 UTSW 7 132270150 missense probably benign
R8342:Chst15 UTSW 7 132247886 missense probably benign 0.15
Posted On2015-12-18