Incidental Mutation 'R9194:Chst11'
ID 697866
Institutional Source Beutler Lab
Gene Symbol Chst11
Ensembl Gene ENSMUSG00000034612
Gene Name carbohydrate sulfotransferase 11
Synonyms C4ST1, 1110020P09Rik, C4ST, chondroitin 4, C4ST-1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9194 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 82985498-83195900 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83191485 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 249 (T249A)
Ref Sequence ENSEMBL: ENSMUSP00000045349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040110]
AlphaFold Q9JME2
Predicted Effect probably damaging
Transcript: ENSMUST00000040110
AA Change: T249A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045349
Gene: ENSMUSG00000034612
AA Change: T249A

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Sulfotransfer_2 108 344 5.6e-71 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 94% (44/47)
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. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. A chromosomal translocation involving this gene and IgH, t(12;14)(q23;q32), has been reported in a patient with B-cell chronic lymphocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality associated with respiratory distress, dwarfism, and abnormal skeletal structures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,259,088 M1K probably null Het
Adra1b A T 11: 43,835,436 V218D probably damaging Het
Ank1 A G 8: 23,116,239 S1216G possibly damaging Het
Celsr1 G T 15: 86,033,085 S229* probably null Het
Cfap44 G T 16: 44,468,461 D1525Y probably damaging Het
Chd8 A T 14: 52,202,193 M2341K probably benign Het
Cttnbp2 A G 6: 18,434,851 V336A probably benign Het
Dennd3 T C 15: 73,547,304 L648P probably benign Het
Dgcr14 A T 16: 17,910,164 D79E probably damaging Het
Dhx16 T C 17: 35,889,281 V864A probably benign Het
Enpp3 G A 10: 24,799,194 H362Y possibly damaging Het
Fam83c T A 2: 155,829,379 Y712F probably damaging Het
Helz C T 11: 107,670,287 Q1392* probably null Het
Il18rap C T 1: 40,543,017 T366M probably benign Het
Iqch T C 9: 63,572,679 H143R probably benign Het
Itgb5 A G 16: 33,900,511 D315G probably damaging Het
Kcnmb2 A G 3: 32,182,025 K141R probably benign Het
Lrrc37a G A 11: 103,500,850 P1250S probably benign Het
Mcm5 T G 8: 75,110,334 V110G probably damaging Het
Med27 G A 2: 29,471,300 D163N probably damaging Het
Mms22l C A 4: 24,600,185 Y1129* probably null Het
Mov10l1 G A 15: 89,046,820 R1081H probably damaging Het
Mtpap C G 18: 4,380,833 N170K probably benign Het
Mtpap C T 18: 4,380,834 Q171* probably null Het
Myo6 T A 9: 80,246,554 F271I unknown Het
Ndst4 C T 3: 125,724,736 S354L probably benign Het
Nfatc1 C T 18: 80,708,043 A26T probably benign Het
Olfr867 C A 9: 20,055,247 C72F probably damaging Het
Piezo2 G C 18: 63,117,744 T428S probably benign Het
Prkch A G 12: 73,721,842 E462G probably damaging Het
Rbm20 A G 19: 53,834,700 Y576C probably damaging Het
Riok3 TTTCATT TTT 18: 12,149,585 probably null Het
Rpp40 C T 13: 35,896,915 D302N probably benign Het
Sash1 A G 10: 8,740,205 V631A probably damaging Het
Sstr2 A G 11: 113,624,377 T41A probably benign Het
Thsd7b T A 1: 129,915,634 V861E possibly damaging Het
Tomm70a A G 16: 57,152,707 K603E possibly damaging Het
Tpd52l2 T A 2: 181,499,890 M22K possibly damaging Het
Tpst1 T A 5: 130,102,019 L110Q possibly damaging Het
Tram1l1 A G 3: 124,321,488 Y99C possibly damaging Het
Ttc39b A G 4: 83,263,740 F81L possibly damaging Het
Ubr1 A G 2: 120,947,844 Y238H probably damaging Het
Vmn1r202 G T 13: 22,502,146 H34N possibly damaging Het
Vmn1r36 G A 6: 66,716,052 Q280* probably null Het
Xpnpep1 A T 19: 53,011,858 V187E possibly damaging Het
Zfp592 A G 7: 81,024,601 I438V probably benign Het
Other mutations in Chst11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Chst11 APN 10 83191633 missense possibly damaging 0.94
IGL00659:Chst11 APN 10 83191805 utr 3 prime probably benign
IGL02676:Chst11 APN 10 83191729 missense probably damaging 1.00
IGL02999:Chst11 APN 10 83191704 missense possibly damaging 0.77
IGL03368:Chst11 APN 10 83092146 missense probably benign 0.39
lavoisier UTSW 10 83191186 missense possibly damaging 0.81
Mendeleev UTSW 10 83191468 missense probably damaging 1.00
BB002:Chst11 UTSW 10 83190954 missense probably damaging 0.98
BB012:Chst11 UTSW 10 83190954 missense probably damaging 0.98
R1929:Chst11 UTSW 10 83191170 missense probably damaging 0.99
R2271:Chst11 UTSW 10 83191170 missense probably damaging 0.99
R4844:Chst11 UTSW 10 83191089 nonsense probably null
R5040:Chst11 UTSW 10 83190946 missense probably benign 0.02
R5396:Chst11 UTSW 10 83191249 missense probably damaging 0.98
R6512:Chst11 UTSW 10 83191468 missense probably damaging 1.00
R6964:Chst11 UTSW 10 83191381 missense probably damaging 1.00
R7803:Chst11 UTSW 10 83191186 missense possibly damaging 0.81
R7925:Chst11 UTSW 10 83190954 missense probably damaging 0.98
R9406:Chst11 UTSW 10 83191047 missense possibly damaging 0.70
X0033:Chst11 UTSW 10 83191150 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATGAAGTTCCTGTTCGTGCG -3'
(R):5'- GGTCATCTCGTCGGTAGTTC -3'

Sequencing Primer
(F):5'- AACCCTTCGAGAGGCTGGTG -3'
(R):5'- AGTTCGGGTGGACTTTGCATAG -3'
Posted On 2022-02-07