Incidental Mutation 'R5063:Chst12'
ID 386742
Institutional Source Beutler Lab
Gene Symbol Chst12
Ensembl Gene ENSMUSG00000036599
Gene Name carbohydrate sulfotransferase 12
Synonyms C4S-2, C4ST2, C4ST-2
MMRRC Submission 042653-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5063 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 140491360-140510993 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 140510167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 265 (E265*)
Ref Sequence ENSEMBL: ENSMUSP00000041663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043050] [ENSMUST00000124142]
AlphaFold Q99LL3
Predicted Effect probably null
Transcript: ENSMUST00000043050
AA Change: E265*
SMART Domains Protein: ENSMUSP00000041663
Gene: ENSMUSG00000036599
AA Change: E265*

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,901,315 (GRCm39) H970R probably benign Het
Anapc1 T C 2: 128,471,469 (GRCm39) M1496V possibly damaging Het
Arhgef4 A T 1: 34,763,296 (GRCm39) T851S probably benign Het
Armh3 A G 19: 45,874,394 (GRCm39) I593T possibly damaging Het
Cacna1d A G 14: 29,773,340 (GRCm39) S1782P probably benign Het
Capn13 T A 17: 73,629,074 (GRCm39) R578* probably null Het
Casp8 A T 1: 58,883,533 (GRCm39) H280L probably damaging Het
Cd274 G T 19: 29,361,543 (GRCm39) D284Y probably damaging Het
Cenpe T A 3: 134,976,715 (GRCm39) C2441S probably damaging Het
Chn2 A T 6: 54,267,272 (GRCm39) K118* probably null Het
Cp C A 3: 20,043,379 (GRCm39) Q22K probably benign Het
Diaph3 A T 14: 87,222,306 (GRCm39) W404R probably damaging Het
Dnajb13 T G 7: 100,160,030 (GRCm39) E69A probably damaging Het
Dzip1l A G 9: 99,549,705 (GRCm39) E725G probably damaging Het
Dzip3 T A 16: 48,774,117 (GRCm39) K373* probably null Het
Fmn1 C T 2: 113,195,266 (GRCm39) T322I unknown Het
Gbp9 T C 5: 105,233,028 (GRCm39) Y208C probably benign Het
Gtf2i T A 5: 134,289,425 (GRCm39) K418N probably damaging Het
Herc3 C T 6: 58,832,745 (GRCm39) Q137* probably null Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Iqcm A T 8: 76,472,914 (GRCm39) D251V probably damaging Het
Itpr3 A T 17: 27,308,885 (GRCm39) I363F possibly damaging Het
Khnyn A T 14: 56,124,660 (GRCm39) K305* probably null Het
Klf17 A G 4: 117,617,856 (GRCm39) V167A possibly damaging Het
Letm2 T C 8: 26,071,795 (GRCm39) D369G probably benign Het
Lrrc31 A G 3: 30,744,085 (GRCm39) V141A possibly damaging Het
Msh5 A T 17: 35,261,164 (GRCm39) probably null Het
Neb G A 2: 52,113,224 (GRCm39) probably benign Het
Or10j5 T A 1: 172,785,009 (GRCm39) S216T possibly damaging Het
Or2t6 A T 14: 14,175,593 (GRCm38) M163K probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Padi6 T C 4: 140,469,191 (GRCm39) I50V probably benign Het
Pcdhb22 G T 18: 37,652,179 (GRCm39) G216C probably damaging Het
Ppy A G 11: 101,991,525 (GRCm39) Y5H probably benign Het
Psmc1 T C 12: 100,081,734 (GRCm39) L112S probably damaging Het
Ptov1 A G 7: 44,515,026 (GRCm39) I195T possibly damaging Het
Rassf10 C A 7: 112,553,631 (GRCm39) D77E probably benign Het
Slc25a45 T C 19: 5,934,490 (GRCm39) S153P possibly damaging Het
Slco1a5 G A 6: 142,204,791 (GRCm39) R126C probably damaging Het
Srebf2 T C 15: 82,061,652 (GRCm39) V366A probably benign Het
St6galnac5 T C 3: 152,686,772 (GRCm39) S61G probably benign Het
Sult6b1 A T 17: 79,213,005 (GRCm39) V82D probably benign Het
Tep1 A T 14: 51,088,084 (GRCm39) C818S possibly damaging Het
Tex15 T G 8: 34,072,638 (GRCm39) F2728L possibly damaging Het
Tm9sf2 T A 14: 122,382,558 (GRCm39) F190Y probably damaging Het
Tmem175 T C 5: 108,794,298 (GRCm39) L476P probably damaging Het
Tmprss11c T C 5: 86,385,689 (GRCm39) K248R probably benign Het
Tnk2 T A 16: 32,489,668 (GRCm39) F316I probably damaging Het
Vmn2r75 T A 7: 85,813,372 (GRCm39) M477L probably benign Het
Vmn2r83 A C 10: 79,314,921 (GRCm39) I390L probably benign Het
Vmn2r88 A G 14: 51,648,603 (GRCm39) Y49C probably damaging Het
Zdhhc4 T A 5: 143,302,377 (GRCm39) I318F probably damaging Het
Zmat4 A T 8: 24,238,457 (GRCm39) D27V 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
R4306:Chst12 UTSW 5 140,510,401 (GRCm39) missense probably damaging 0.96
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'- GAGTGATGATCGTGCTGAGC -3'
(R):5'- TTGAAAGGCGCCAGCTTCTC -3'

Sequencing Primer
(F):5'- TGATCGTGCTGAGCGAGAG -3'
(R):5'- CCAGCTTCTCCGTGTGTGG -3'
Posted On 2016-06-06