Incidental Mutation 'R6930:Chst15'
ID 539949
Institutional Source Beutler Lab
Gene Symbol Chst15
Ensembl Gene ENSMUSG00000030930
Gene Name carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15
Synonyms MAd5, GalNAcS-6ST, MAd5, 4631426J05Rik
MMRRC Submission 045046-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R6930 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 132235780-132317228 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 132269030 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 259 (I259V)
Ref Sequence ENSEMBL: ENSMUSP00000079105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077472] [ENSMUST00000080215] [ENSMUST00000124096]
AlphaFold Q91XQ5
Predicted Effect possibly damaging
Transcript: ENSMUST00000077472
AA Change: I259V

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000076682
Gene: ENSMUSG00000030930
AA Change: I259V

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 possibly damaging
Transcript: ENSMUST00000080215
AA Change: I259V

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000079105
Gene: ENSMUSG00000030930
AA Change: I259V

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

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
Meta Mutation Damage Score 0.0739 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.5%
Validation Efficiency 100% (63/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A T 11: 23,516,563 (GRCm38) D156E probably benign Het
Adam17 A T 12: 21,353,948 (GRCm38) V99E probably damaging Het
Akr1e1 T C 13: 4,602,715 (GRCm38) D41G probably damaging Het
Alcam T C 16: 52,305,655 (GRCm38) I100V probably benign Het
Atr T C 9: 95,866,635 (GRCm38) I411T probably benign Het
Bbs4 T C 9: 59,323,481 (GRCm38) S453G probably benign Het
Brdt C T 5: 107,359,215 (GRCm38) L494F probably benign Het
Ccser1 T C 6: 62,380,025 (GRCm38) S816P probably benign Het
Cdk10 T C 8: 123,230,608 (GRCm38) I157T probably damaging Het
Ceacam5 G A 7: 17,750,834 (GRCm38) probably null Het
Cracdl A T 1: 37,624,945 (GRCm38) I624N possibly damaging Het
Csmd1 A T 8: 16,092,395 (GRCm38) M1498K probably damaging Het
D630045J12Rik T C 6: 38,158,216 (GRCm38) D1343G probably damaging Het
Denr T C 5: 123,908,187 (GRCm38) Y27H probably benign Het
Dop1a T C 9: 86,531,772 (GRCm38) probably null Het
Epg5 T C 18: 78,014,163 (GRCm38) F1819S probably damaging Het
Flg2 T A 3: 93,201,335 (GRCm38) Y223* probably null Het
Fry T C 5: 150,428,230 (GRCm38) L1733P probably benign Het
Gabrb2 T C 11: 42,597,613 (GRCm38) V302A probably damaging Het
Gimap9 G A 6: 48,677,667 (GRCm38) D53N probably damaging Het
Gje1 G T 10: 14,718,142 (GRCm38) L3I possibly damaging Het
Gm49383 G T 12: 69,192,812 (GRCm38) A645E probably damaging Het
Gm8947 G A 1: 151,192,596 (GRCm38) G60D probably damaging Het
Gpatch2l G A 12: 86,244,184 (GRCm38) R47H probably damaging Het
Gys2 A G 6: 142,459,380 (GRCm38) probably null Het
Hace1 A G 10: 45,618,502 (GRCm38) H136R probably damaging Het
Herc3 T G 6: 58,916,459 (GRCm38) V902G probably damaging Het
Hspbp1 T C 7: 4,684,607 (GRCm38) R2G probably benign Het
Iqch T A 9: 63,480,574 (GRCm38) K811N possibly damaging Het
Kmt2a A G 9: 44,842,665 (GRCm38) probably benign Het
Lonrf2 A T 1: 38,804,336 (GRCm38) V372D probably benign Het
Lpin2 T C 17: 71,244,791 (GRCm38) Y729H probably damaging Het
Lrrc32 A G 7: 98,499,264 (GRCm38) N417S possibly damaging Het
Malrd1 T A 2: 15,797,667 (GRCm38) C1064S unknown Het
Mast3 G A 8: 70,799,471 (GRCm38) R20* probably null Het
Mypn A C 10: 63,116,939 (GRCm38) I174S probably damaging Het
Nrg1 G A 8: 31,818,506 (GRCm38) T505M probably damaging Het
Or13p8 A G 4: 118,727,141 (GRCm38) K298R probably damaging Het
Or6y1 A G 1: 174,449,111 (GRCm38) I163V probably damaging Het
Or7a42 A G 10: 78,955,781 (GRCm38) D192G possibly damaging Het
Or7e178 A G 9: 20,314,099 (GRCm38) Y266H probably damaging Het
Phf3 T C 1: 30,811,877 (GRCm38) E1132G probably damaging Het
Pla2g4d A T 2: 120,270,633 (GRCm38) M521K probably damaging Het
Plekhg1 A G 10: 3,963,770 (GRCm38) H1164R possibly damaging Het
Plxnb2 A G 15: 89,160,389 (GRCm38) V1218A probably benign Het
Pold1 A G 7: 44,542,206 (GRCm38) S119P probably benign Het
Pole T A 5: 110,293,290 (GRCm38) D203E probably benign Het
Rapgefl1 T A 11: 98,847,121 (GRCm38) L387Q probably damaging Het
Rbm33 T C 5: 28,352,506 (GRCm38) I199T probably benign Het
Rsrc1 C T 3: 66,994,649 (GRCm38) P44L unknown Het
Rufy1 C A 11: 50,398,380 (GRCm38) R545L probably benign Het
Ryr3 T A 2: 112,860,354 (GRCm38) D1117V probably damaging Het
Sap130 T C 18: 31,682,088 (GRCm38) V621A possibly damaging Het
Sparcl1 T A 5: 104,087,074 (GRCm38) Y525F probably damaging Het
Spon2 A G 5: 33,216,427 (GRCm38) V180A probably benign Het
Trav10n G A 14: 53,122,490 (GRCm38) V75M probably benign Het
Ttc34 T C 4: 154,839,086 (GRCm38) L84P probably damaging Het
Vmn1r23 C T 6: 57,926,145 (GRCm38) R216K probably benign Het
Vmn2r61 A G 7: 42,299,940 (GRCm38) T595A probably benign Het
Vmn2r66 T A 7: 85,012,008 (GRCm38) I5F possibly damaging Het
Zfp879 C T 11: 50,833,012 (GRCm38) G406R probably damaging Het
Zic2 A T 14: 122,476,457 (GRCm38) D261V probably damaging Het
Other mutations in Chst15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01710:Chst15 APN 7 132,270,507 (GRCm38) missense probably benign 0.22
IGL01879:Chst15 APN 7 132,270,265 (GRCm38) missense possibly damaging 0.94
IGL02355:Chst15 APN 7 132,266,672 (GRCm38) missense probably benign 0.26
IGL02362:Chst15 APN 7 132,266,672 (GRCm38) missense probably benign 0.26
IGL02826:Chst15 APN 7 132,266,746 (GRCm38) missense probably damaging 1.00
IGL02860:Chst15 APN 7 132,269,102 (GRCm38) missense probably benign
IGL02972:Chst15 APN 7 132,269,173 (GRCm38) missense probably damaging 1.00
IGL03266:Chst15 APN 7 132,270,076 (GRCm38) missense probably damaging 1.00
IGL03331:Chst15 APN 7 132,262,713 (GRCm38) missense probably damaging 1.00
IGL03375:Chst15 APN 7 132,270,457 (GRCm38) nonsense probably null
R1476:Chst15 UTSW 7 132,270,273 (GRCm38) missense possibly damaging 0.95
R1501:Chst15 UTSW 7 132,269,069 (GRCm38) nonsense probably null
R1518:Chst15 UTSW 7 132,270,126 (GRCm38) missense probably damaging 1.00
R1943:Chst15 UTSW 7 132,262,850 (GRCm38) splice site probably null
R2164:Chst15 UTSW 7 132,270,385 (GRCm38) missense probably damaging 0.97
R3947:Chst15 UTSW 7 132,247,875 (GRCm38) missense probably damaging 1.00
R4921:Chst15 UTSW 7 132,247,884 (GRCm38) missense probably benign 0.01
R5817:Chst15 UTSW 7 132,269,147 (GRCm38) missense probably damaging 0.99
R5817:Chst15 UTSW 7 132,269,144 (GRCm38) missense probably damaging 0.99
R5917:Chst15 UTSW 7 132,270,517 (GRCm38) missense probably benign
R7159:Chst15 UTSW 7 132,270,258 (GRCm38) missense probably damaging 1.00
R7911:Chst15 UTSW 7 132,270,522 (GRCm38) missense probably benign 0.12
R8282:Chst15 UTSW 7 132,270,150 (GRCm38) missense probably benign
R8342:Chst15 UTSW 7 132,247,886 (GRCm38) missense probably benign 0.15
R9011:Chst15 UTSW 7 132,270,517 (GRCm38) missense probably benign
R9093:Chst15 UTSW 7 132,268,917 (GRCm38) critical splice donor site probably null
R9329:Chst15 UTSW 7 132,266,791 (GRCm38) missense possibly damaging 0.46
R9352:Chst15 UTSW 7 132,270,528 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-11-06