Incidental Mutation 'R0241:Chst12'
ID 66178
Institutional Source Beutler Lab
Gene Symbol Chst12
Ensembl Gene ENSMUSG00000036599
Gene Name carbohydrate sulfotransferase 12
Synonyms C4S-2, C4ST2, C4ST-2
MMRRC Submission 038479-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0241 (G1)
Quality Score 217
Status Not validated
Chromosome 5
Chromosomal Location 140491360-140510993 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 140510054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 227 (R227H)
Ref Sequence ENSEMBL: ENSMUSP00000041663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043050] [ENSMUST00000124142]
AlphaFold Q99LL3
Predicted Effect possibly damaging
Transcript: ENSMUST00000043050
AA Change: R227H

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000041663
Gene: ENSMUSG00000036599
AA Change: R227H

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:Sulfotransfer_2 160 411 1.5e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124142
SMART Domains Protein: ENSMUSP00000114835
Gene: ENSMUSG00000036599

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Meta Mutation Damage Score 0.1010 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.1%
  • 10x: 89.8%
  • 20x: 65.7%
Validation Efficiency
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 position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. Alternatively spliced transcript variants differing only in their 5' UTRs have been found for this gene. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 T A 6: 39,560,752 (GRCm39) V380E probably benign Het
Anapc1 A T 2: 128,470,549 (GRCm39) M1527K possibly damaging Het
Bicra A T 7: 15,709,070 (GRCm39) M1188K probably damaging Het
Brd7 G A 8: 89,072,478 (GRCm39) R331W probably benign Het
Cactin A G 10: 81,158,486 (GRCm39) T151A probably benign Het
Cadps G A 14: 12,376,675 (GRCm38) T1274M probably damaging Het
Catsper3 T C 13: 55,952,667 (GRCm39) M175T probably damaging Het
Chd5 A G 4: 152,450,589 (GRCm39) D605G probably damaging Het
Cobl A T 11: 12,204,524 (GRCm39) V644E probably benign Het
Ddx31 A G 2: 28,738,303 (GRCm39) T155A probably damaging Het
Dnah3 T C 7: 119,521,953 (GRCm39) Q4069R probably damaging Het
Dnah8 T C 17: 30,984,653 (GRCm39) I3117T probably damaging Het
Doc2b A G 11: 75,663,387 (GRCm39) V355A probably damaging Het
Dock10 A T 1: 80,556,340 (GRCm39) S578T probably benign Het
Fcer2a A G 8: 3,738,796 (GRCm39) probably null Het
Fmnl1 G A 11: 103,072,996 (GRCm39) probably null Het
Git2 T C 5: 114,871,290 (GRCm39) E208G probably damaging Het
Hs6st3 T C 14: 119,376,232 (GRCm39) F136L probably benign Het
Hydin G A 8: 111,124,655 (GRCm39) V555I probably benign Het
Kmt2b A G 7: 30,276,494 (GRCm39) L1726S probably damaging Het
Loxl3 A G 6: 83,027,114 (GRCm39) D615G probably damaging Het
Nfasc C A 1: 132,564,731 (GRCm39) A70S probably benign Het
Or4d1 T A 11: 87,804,860 (GRCm39) N291Y probably damaging Het
Or4p21 A T 2: 88,276,889 (GRCm39) M131K possibly damaging Het
Or52n4 A G 7: 104,294,450 (GRCm39) M41T probably benign Het
Or5g29 A G 2: 85,421,154 (GRCm39) K90R probably benign Het
Pde7b A G 10: 20,311,962 (GRCm39) C239R probably damaging Het
Pdzd2 A T 15: 12,368,027 (GRCm39) L2654Q probably damaging Het
Pgap1 T C 1: 54,575,110 (GRCm39) probably null Het
Proz T A 8: 13,115,356 (GRCm39) M124K probably benign Het
Raet1d A G 10: 22,247,328 (GRCm39) T135A probably benign Het
Rapgef1 A G 2: 29,592,682 (GRCm39) N558S possibly damaging Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Simc1 G T 13: 54,698,338 (GRCm39) L1319F probably damaging Het
Sspo A G 6: 48,438,429 (GRCm39) E1499G possibly damaging Het
Tas2r118 T C 6: 23,969,338 (GRCm39) Y241C probably damaging Het
Tbck A G 3: 132,430,636 (GRCm39) E344G probably benign Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tmbim7 A T 5: 3,716,866 (GRCm39) Y66F probably benign Het
Vil1 T C 1: 74,465,853 (GRCm39) L548P probably damaging Het
Wdr3 A G 3: 100,052,973 (GRCm39) V593A probably damaging Het
Zan T C 5: 137,420,084 (GRCm39) T2858A unknown Het
Zbtb37 A T 1: 160,847,939 (GRCm39) V356E probably benign Het
Zfp36 C T 7: 28,077,759 (GRCm39) V50I probably damaging Het
Zfp563 A T 17: 33,323,659 (GRCm39) S85C possibly damaging Het
Other mutations in Chst12
AlleleSourceChrCoordTypePredicted EffectPPH Score
deming UTSW 5 140,509,376 (GRCm39) start codon destroyed probably null 1.00
R0241:Chst12 UTSW 5 140,510,054 (GRCm39) missense possibly damaging 0.76
R4306:Chst12 UTSW 5 140,510,401 (GRCm39) missense probably damaging 0.96
R5063:Chst12 UTSW 5 140,510,167 (GRCm39) nonsense probably null
R5741:Chst12 UTSW 5 140,509,688 (GRCm39) missense probably benign 0.00
R7775:Chst12 UTSW 5 140,509,376 (GRCm39) start codon destroyed probably null 1.00
X0021:Chst12 UTSW 5 140,509,928 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2013-08-19