Incidental Mutation 'R4306:Chst12'
ID 324026
Institutional Source Beutler Lab
Gene Symbol Chst12
Ensembl Gene ENSMUSG00000036599
Gene Name carbohydrate sulfotransferase 12
Synonyms C4S-2, C4ST2, C4ST-2
MMRRC Submission 041092-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4306 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 140491360-140510993 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140510401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 343 (F343L)
Ref Sequence ENSEMBL: ENSMUSP00000041663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043050] [ENSMUST00000124142]
AlphaFold Q99LL3
Predicted Effect probably damaging
Transcript: ENSMUST00000043050
AA Change: F343L

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000041663
Gene: ENSMUSG00000036599
AA Change: F343L

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 0.7542 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 97% (33/34)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik C A 1: 12,042,300 (GRCm39) S440* probably null Het
Chrdl2 A G 7: 99,671,229 (GRCm39) T116A probably damaging Het
Cpeb2 T A 5: 43,392,578 (GRCm39) probably benign Het
Cyp27b1 A G 10: 126,886,957 (GRCm39) D391G probably benign Het
Dll3 T C 7: 28,001,082 (GRCm39) probably null Het
Dnah7b T A 1: 46,260,932 (GRCm39) I2030N probably damaging Het
Fap C T 2: 62,361,051 (GRCm39) probably null Het
Frmd4a C T 2: 4,337,889 (GRCm39) R32C probably benign Het
Fzd7 T C 1: 59,523,566 (GRCm39) V483A probably damaging Het
Gpm6a T C 8: 55,500,428 (GRCm39) probably null Het
Gprc6a T C 10: 51,492,735 (GRCm39) H539R probably damaging Het
Irs1 C T 1: 82,265,685 (GRCm39) A844T probably benign Het
Myo1a T G 10: 127,549,950 (GRCm39) S477A probably benign Het
Naga C T 15: 82,221,095 (GRCm39) W67* probably null Het
Or51ah3 G C 7: 103,210,380 (GRCm39) R232T possibly damaging Het
Or51ah3 A T 7: 103,210,379 (GRCm39) R232* probably null Het
Osbpl1a T C 18: 12,952,652 (GRCm39) E87G probably benign Het
Prr27 A G 5: 87,990,766 (GRCm39) H126R probably benign Het
Rb1 G A 14: 73,500,135 (GRCm39) T504I probably damaging Het
Rnf144b A G 13: 47,396,418 (GRCm39) N252D probably damaging Het
Slit2 T A 5: 48,460,125 (GRCm39) N1385K possibly damaging Het
Spaca7b T A 8: 11,728,590 (GRCm39) N27I probably damaging Het
Tas2r124 A G 6: 132,731,954 (GRCm39) I88V probably benign Het
Trip11 A G 12: 101,853,198 (GRCm39) F465L probably benign Het
Usp31 G A 7: 121,306,152 (GRCm39) P109S possibly damaging Het
Vmn2r12 A G 5: 109,233,872 (GRCm39) L780P probably damaging Het
Vmn2r71 G T 7: 85,273,360 (GRCm39) D725Y probably damaging Het
Zfp459 T C 13: 67,561,307 (GRCm39) K47R probably 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
R0241:Chst12 UTSW 5 140,510,054 (GRCm39) missense possibly damaging 0.76
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 PCR Primer
(F):5'- AGCTGGAGAACGAAGAGTTTTACC -3'
(R):5'- ATAGAGCTGTTGCCTCCATGC -3'

Sequencing Primer
(F):5'- CGAAGAGTTTTACCGCAAGTTCG -3'
(R):5'- TGTTGCCTCCATGCCAGGG -3'
Posted On 2015-06-24