Incidental Mutation 'R9296:Chst13'
ID 704600
Institutional Source Beutler Lab
Gene Symbol Chst13
Ensembl Gene ENSMUSG00000056643
Gene Name carbohydrate sulfotransferase 13
Synonyms 1110067M19Rik, C4ST-3, Chst13
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R9296 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 90285333-90302167 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 90286506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 152 (P152L)
Ref Sequence ENSEMBL: ENSMUSP00000064897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054799] [ENSMUST00000070890] [ENSMUST00000167550]
AlphaFold D3Z6E3
Predicted Effect probably benign
Transcript: ENSMUST00000054799
SMART Domains Protein: ENSMUSP00000058483
Gene: ENSMUSG00000049694

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 81 92 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000070890
AA Change: P152L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064897
Gene: ENSMUSG00000056643
AA Change: P152L

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Sulfotransfer_2 94 328 7.5e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167550
SMART Domains Protein: ENSMUSP00000132052
Gene: ENSMUSG00000049694

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 81 92 N/A INTRINSIC
Meta Mutation Damage Score 0.1663 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (56/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to the C4 hydroxyl of beta-1,4-linked N-acetylgalactosamine (GalNAc) flanked by glucuronic acid residue in chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Antxr1 T G 6: 87,114,409 (GRCm39) probably benign Het
Aox1 A T 1: 58,124,612 (GRCm39) Y951F probably damaging Het
Arhgap44 G T 11: 64,957,933 (GRCm39) A83E probably damaging Het
Bmpr2 T C 1: 59,906,502 (GRCm39) S532P probably damaging Het
Brd7 T C 8: 89,059,560 (GRCm39) I617V possibly damaging Het
Brsk2 A C 7: 141,552,375 (GRCm39) S620R probably benign Het
C3 T C 17: 57,511,291 (GRCm39) M1604V probably benign Het
Cacna2d1 G A 5: 16,564,068 (GRCm39) R917H probably damaging Het
Ccdc17 T A 4: 116,456,586 (GRCm39) F452I probably damaging Het
Cfap221 T C 1: 119,883,467 (GRCm39) I235V probably null Het
Ciita G A 16: 10,321,812 (GRCm39) probably null Het
Cxcl10 T C 5: 92,495,997 (GRCm39) K47E probably damaging Het
Cyp2d12 C T 15: 82,440,435 (GRCm39) Q75* probably null Het
Cyp4f18 C T 8: 72,756,301 (GRCm39) V92M probably benign Het
D930020B18Rik A G 10: 121,497,011 (GRCm39) R149G possibly damaging Het
Dlgap4 G T 2: 156,546,514 (GRCm39) R394L possibly damaging Het
Dmtf1 A C 5: 9,190,467 (GRCm39) D82E probably benign Het
Dnah1 T C 14: 30,996,011 (GRCm39) probably null Het
Eps15 T G 4: 109,173,089 (GRCm39) D183E possibly damaging Het
Fbln5 A T 12: 101,780,853 (GRCm39) I7K probably benign Het
Fermt3 C T 19: 6,980,865 (GRCm39) E289K possibly damaging Het
Gm10762 T A 2: 128,809,149 (GRCm39) R67W unknown Het
Gm5089 A G 14: 122,673,554 (GRCm39) S56P unknown Het
H2-T5 C T 17: 36,479,169 (GRCm39) G27R unknown Het
Itih1 A G 14: 30,653,251 (GRCm39) F730L probably benign Het
Macf1 T C 4: 123,400,246 (GRCm39) H683R probably damaging Het
Mapk3 T A 7: 126,363,518 (GRCm39) F297L Het
Mfap3l G A 8: 61,124,615 (GRCm39) V286I possibly damaging Het
Myh4 A G 11: 67,146,130 (GRCm39) K1396R possibly damaging Het
Mylk3 A T 8: 86,085,561 (GRCm39) S324R probably benign Het
Ndufv3 T C 17: 31,739,197 (GRCm39) S4P probably benign Het
Nebl A T 2: 17,429,451 (GRCm39) probably benign Het
Nol4 A T 18: 22,956,388 (GRCm39) S119T Het
Or6k4 A T 1: 173,964,835 (GRCm39) H175L probably benign Het
Pcdhgb4 T A 18: 37,853,777 (GRCm39) S57R probably benign Het
Pcyox1 A G 6: 86,368,735 (GRCm39) L261P probably damaging Het
Plekhm3 G T 1: 64,961,639 (GRCm39) H206N probably benign Het
Polr2a T C 11: 69,625,562 (GRCm39) T1863A probably benign Het
Prl7c1 T A 13: 27,962,812 (GRCm39) I64L probably benign Het
Psg17 A T 7: 18,553,991 (GRCm39) N86K probably benign Het
Rab37 A G 11: 115,045,065 (GRCm39) E14G probably benign Het
Rad54l2 T A 9: 106,579,942 (GRCm39) K976N probably damaging Het
Rnf213 A T 11: 119,334,621 (GRCm39) probably benign Het
Sdha A T 13: 74,472,062 (GRCm39) D602E probably damaging Het
Slc22a30 T A 19: 8,364,119 (GRCm39) T186S probably benign Het
Slc22a4 A T 11: 53,888,217 (GRCm39) C270* probably null Het
Slc6a4 T C 11: 76,909,110 (GRCm39) V374A probably benign Het
Spg11 T C 2: 121,945,175 (GRCm39) D115G probably benign Het
Susd1 T C 4: 59,427,865 (GRCm39) probably benign Het
Tor1a A T 2: 30,851,104 (GRCm39) M286K probably damaging Het
Trim12c G T 7: 103,994,185 (GRCm39) A223D Het
Usp32 A G 11: 84,908,478 (GRCm39) I1076T probably damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Vmn2r101 G A 17: 19,810,047 (GRCm39) D278N probably damaging Het
Zan C T 5: 137,387,138 (GRCm39) V4972I unknown Het
Other mutations in Chst13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03264:Chst13 APN 6 90,286,193 (GRCm39) nonsense probably null
E0374:Chst13 UTSW 6 90,286,174 (GRCm39) nonsense probably null
PIT4520001:Chst13 UTSW 6 90,286,167 (GRCm39) missense probably benign 0.19
R2301:Chst13 UTSW 6 90,295,271 (GRCm39) missense probably damaging 1.00
R2849:Chst13 UTSW 6 90,286,140 (GRCm39) missense probably benign 0.00
R3522:Chst13 UTSW 6 90,295,245 (GRCm39) missense probably damaging 1.00
R5068:Chst13 UTSW 6 90,286,551 (GRCm39) missense possibly damaging 0.69
R5560:Chst13 UTSW 6 90,295,251 (GRCm39) missense probably damaging 1.00
R5888:Chst13 UTSW 6 90,286,554 (GRCm39) missense probably benign 0.37
R6306:Chst13 UTSW 6 90,286,260 (GRCm39) missense probably damaging 0.99
R6393:Chst13 UTSW 6 90,302,063 (GRCm39) missense possibly damaging 0.91
R6572:Chst13 UTSW 6 90,286,588 (GRCm39) missense probably benign 0.00
R7611:Chst13 UTSW 6 90,285,999 (GRCm39) missense probably damaging 1.00
R7767:Chst13 UTSW 6 90,286,566 (GRCm39) missense possibly damaging 0.91
R7880:Chst13 UTSW 6 90,302,062 (GRCm39) missense possibly damaging 0.91
R9002:Chst13 UTSW 6 90,286,506 (GRCm39) missense probably damaging 1.00
R9010:Chst13 UTSW 6 90,286,506 (GRCm39) missense probably damaging 1.00
R9288:Chst13 UTSW 6 90,286,506 (GRCm39) missense probably damaging 1.00
R9295:Chst13 UTSW 6 90,286,506 (GRCm39) missense probably damaging 1.00
R9318:Chst13 UTSW 6 90,286,506 (GRCm39) missense probably damaging 1.00
R9319:Chst13 UTSW 6 90,286,506 (GRCm39) missense probably damaging 1.00
R9397:Chst13 UTSW 6 90,286,506 (GRCm39) missense probably damaging 1.00
R9461:Chst13 UTSW 6 90,286,506 (GRCm39) missense probably damaging 1.00
R9480:Chst13 UTSW 6 90,286,506 (GRCm39) missense probably damaging 1.00
R9481:Chst13 UTSW 6 90,286,506 (GRCm39) missense probably damaging 1.00
R9521:Chst13 UTSW 6 90,286,506 (GRCm39) missense probably damaging 1.00
R9522:Chst13 UTSW 6 90,286,506 (GRCm39) missense probably damaging 1.00
R9749:Chst13 UTSW 6 90,295,251 (GRCm39) missense probably damaging 1.00
R9787:Chst13 UTSW 6 90,286,074 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TCGTTGAAGGGCTCATGAC -3'
(R):5'- AACACCACCATCGCTTGTCG -3'

Sequencing Primer
(F):5'- GCAGGTAGGCCAGGAACTC -3'
(R):5'- ATCGCTTGTCGCCTGCAG -3'
Posted On 2022-03-25