Incidental Mutation 'IGL02355:Chst15'
ID289655
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: 0.081) question?
Stock #IGL02355
Quality Score
Status
Chromosome7
Chromosomal Location132235780-132317228 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 132266672 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 340 (N340D)
Ref Sequence ENSEMBL: ENSMUSP00000079105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077472] [ENSMUST00000080215] [ENSMUST00000124096]
Predicted Effect probably benign
Transcript: ENSMUST00000077472
AA Change: N340D

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000076682
Gene: ENSMUSG00000030930
AA Change: N340D

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: N340D

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000079105
Gene: ENSMUSG00000030930
AA Change: N340D

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik T C 2: 111,211,651 probably benign Het
Adam3 C A 8: 24,697,191 C428F probably damaging Het
Alas1 T C 9: 106,236,639 Y469C probably damaging Het
Asxl1 C T 2: 153,401,786 L1419F probably benign Het
Bcan C T 3: 87,994,142 D418N possibly damaging Het
Cdc42bpg A G 19: 6,310,809 D199G possibly damaging Het
Col12a1 T G 9: 79,630,711 probably benign Het
Cyp2c67 T A 19: 39,643,405 H116L probably benign Het
Cyp2c67 G A 19: 39,617,382 R357* probably null Het
Ears2 T C 7: 122,044,550 D395G probably benign Het
Fam227a A T 15: 79,643,938 probably benign Het
Fap A G 2: 62,573,498 V11A probably benign Het
Ganc A G 2: 120,433,757 D397G probably damaging Het
Gjb6 C A 14: 57,124,295 G170C possibly damaging Het
Gm13023 A G 4: 143,793,010 S114G probably damaging Het
Gm8989 T C 7: 106,330,273 noncoding transcript Het
Gria2 A T 3: 80,706,937 W599R probably damaging Het
Ighv1-64 A G 12: 115,507,616 S94P probably benign Het
Kifc3 C T 8: 95,109,879 A85T probably damaging Het
Lifr G A 15: 7,164,693 probably null Het
Lonp2 T G 8: 86,624,246 S21R probably benign Het
Nxpe3 A G 16: 55,890,586 V30A probably benign Het
Olfml1 T C 7: 107,567,803 V13A probably benign Het
Olfr1490 T C 19: 13,655,233 V268A probably benign Het
Olfr366 A G 2: 37,219,669 Y60C probably damaging Het
Pcnt G A 10: 76,375,162 Q2376* probably null Het
Pglyrp2 A G 17: 32,417,022 L380P probably damaging Het
Plin3 A G 17: 56,286,636 V26A probably benign Het
Rims1 A G 1: 22,483,207 I470T probably damaging Het
Rora T C 9: 69,374,092 Y329H probably damaging Het
Scnn1b G A 7: 121,917,547 R503H probably damaging Het
Sec14l1 A G 11: 117,144,849 D237G possibly damaging Het
Selplg A G 5: 113,819,406 S280P probably benign Het
Serpina12 A G 12: 104,037,881 L164P probably benign Het
Sik2 C T 9: 50,917,603 W176* probably null Het
Slc2a1 T C 4: 119,136,415 F483S possibly damaging Het
Speg A G 1: 75,423,915 D2573G possibly damaging Het
Stil C T 4: 115,010,111 S239L probably damaging Het
Tmem94 C A 11: 115,794,745 S941R probably damaging Het
Tnfrsf11b T A 15: 54,252,382 D273V probably damaging Het
Tns2 A G 15: 102,112,290 T864A probably benign Het
Zfpm2 A G 15: 41,099,494 H184R probably damaging 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
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 On2015-04-16