Incidental Mutation 'R9406:Chst11'
ID 711543
Institutional Source Beutler Lab
Gene Symbol Chst11
Ensembl Gene ENSMUSG00000034612
Gene Name carbohydrate sulfotransferase 11
Synonyms C4ST1, 1110020P09Rik, chondroitin 4, C4ST-1, C4ST
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9406 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 82821332-83031734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83026881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 103 (T103A)
Ref Sequence ENSEMBL: ENSMUSP00000045349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040110]
AlphaFold Q9JME2
Predicted Effect possibly damaging
Transcript: ENSMUST00000040110
AA Change: T103A

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000045349
Gene: ENSMUSG00000034612
AA Change: T103A

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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. 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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik A G 17: 35,879,487 (GRCm39) Y275C possibly damaging Het
4932414N04Rik A G 2: 68,498,019 (GRCm39) K150R unknown Het
Aatf ACACACACACACACACACACACACACACACACACACACACACACACAC ACACACACACACACACACACACACACACACACACACACACACACACACAC 11: 84,361,866 (GRCm39) probably null Het
Ank3 C A 10: 69,645,011 (GRCm39) T92K unknown Het
Armh4 C T 14: 50,010,945 (GRCm39) G254E possibly damaging Het
Cdca2 T C 14: 67,937,772 (GRCm39) S294G unknown Het
Cerk A G 15: 86,028,787 (GRCm39) I423T possibly damaging Het
Cfap74 A T 4: 155,510,626 (GRCm39) K404* probably null Het
Cftr T C 6: 18,299,866 (GRCm39) V1213A probably benign Het
Col22a1 A G 15: 71,845,541 (GRCm39) I407T probably damaging Het
Cpn2 A G 16: 30,078,360 (GRCm39) V447A probably benign Het
Crybg3 T C 16: 59,378,839 (GRCm39) E805G probably benign Het
Cstb A G 10: 78,263,173 (GRCm39) H66R probably benign Het
Cyp2g1 T C 7: 26,518,910 (GRCm39) probably null Het
Fkbp1b G T 12: 4,883,732 (GRCm39) H88N probably benign Het
Gm4884 A T 7: 40,692,565 (GRCm39) D178V probably damaging Het
Grik5 T C 7: 24,757,969 (GRCm39) T371A probably benign Het
Hydin G A 8: 111,314,412 (GRCm39) G4299S probably null Het
Ibtk A T 9: 85,603,393 (GRCm39) Y537* probably null Het
Ighv8-9 A G 12: 115,432,257 (GRCm39) L18P probably damaging Het
Lbp G T 2: 158,159,477 (GRCm39) K203N probably benign Het
Lilra6 C T 7: 3,917,853 (GRCm39) R97Q probably benign Het
Man1c1 A G 4: 134,303,318 (GRCm39) I392T probably damaging Het
Mcf2l A T 8: 13,059,676 (GRCm39) H727L probably damaging Het
Med7 T A 11: 46,331,865 (GRCm39) F153L probably benign Het
Neurl1b G C 17: 26,657,820 (GRCm39) V253L probably benign Het
Noc2l T C 4: 156,320,511 (GRCm39) S4P probably benign Het
Obscn A C 11: 58,947,805 (GRCm39) F4408C Het
Or1j17 A G 2: 36,578,296 (GRCm39) Y94C possibly damaging Het
Or4f62 A G 2: 111,986,643 (GRCm39) I116V probably benign Het
Orc2 T C 1: 58,506,842 (GRCm39) Q498R probably damaging Het
Oxsm A C 14: 16,242,531 (GRCm38) D79E probably benign Het
Pask G A 1: 93,251,987 (GRCm39) T464I probably benign Het
Pcdha8 A G 18: 37,126,922 (GRCm39) N468S probably damaging Het
Pcm1 T A 8: 41,728,722 (GRCm39) V565E probably damaging Het
Pcsk5 T C 19: 17,771,097 (GRCm39) I67V probably benign Het
Pde4d A G 13: 109,877,064 (GRCm39) D139G probably damaging Het
Pdzd8 C T 19: 59,333,245 (GRCm39) E259K Het
Phactr3 T C 2: 177,925,856 (GRCm39) L377P probably damaging Het
Ppargc1b G A 18: 61,444,051 (GRCm39) P387S possibly damaging Het
Prmt7 T G 8: 106,970,435 (GRCm39) V426G probably damaging Het
Rab39 G C 9: 53,597,915 (GRCm39) P117A probably damaging Het
Rab40b G A 11: 121,254,352 (GRCm39) R62* probably null Het
Rpf1 T G 3: 146,213,937 (GRCm39) H220P probably damaging Het
Rps6kl1 A G 12: 85,186,280 (GRCm39) I276T probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Sbf2 T C 7: 110,040,702 (GRCm39) Q375R possibly damaging Het
Sestd1 G A 2: 77,075,421 (GRCm39) probably benign Het
Slc38a6 T A 12: 73,376,767 (GRCm39) Y140* probably null Het
Smpd1 C A 7: 105,203,750 (GRCm39) H4Q possibly damaging Het
Sox8 A T 17: 25,786,634 (GRCm39) S356R probably damaging Het
Tapbpl A G 6: 125,205,319 (GRCm39) L209P probably damaging Het
Txndc11 A G 16: 10,893,498 (GRCm39) L744P probably benign Het
Ush2a C T 1: 187,995,646 (GRCm39) P139L probably benign Het
Vmn1r54 A T 6: 90,246,092 (GRCm39) N2I probably damaging Het
Vmn2r112 C T 17: 22,824,223 (GRCm39) Q493* probably null Het
Vps16 T C 2: 130,283,425 (GRCm39) probably null Het
Zfp40 A T 17: 23,396,129 (GRCm39) S153T possibly damaging Het
Zfp523 G A 17: 28,416,840 (GRCm39) A109T probably benign Het
Zfp78 A T 7: 6,382,182 (GRCm39) N411Y probably benign Het
Other mutations in Chst11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Chst11 APN 10 83,027,467 (GRCm39) missense possibly damaging 0.94
IGL00659:Chst11 APN 10 83,027,639 (GRCm39) utr 3 prime probably benign
IGL02676:Chst11 APN 10 83,027,563 (GRCm39) missense probably damaging 1.00
IGL02999:Chst11 APN 10 83,027,538 (GRCm39) missense possibly damaging 0.77
IGL03368:Chst11 APN 10 82,927,980 (GRCm39) missense probably benign 0.39
lavoisier UTSW 10 83,027,020 (GRCm39) missense possibly damaging 0.81
Mendeleev UTSW 10 83,027,302 (GRCm39) missense probably damaging 1.00
BB002:Chst11 UTSW 10 83,026,788 (GRCm39) missense probably damaging 0.98
BB012:Chst11 UTSW 10 83,026,788 (GRCm39) missense probably damaging 0.98
R1929:Chst11 UTSW 10 83,027,004 (GRCm39) missense probably damaging 0.99
R2271:Chst11 UTSW 10 83,027,004 (GRCm39) missense probably damaging 0.99
R4844:Chst11 UTSW 10 83,026,923 (GRCm39) nonsense probably null
R5040:Chst11 UTSW 10 83,026,780 (GRCm39) missense probably benign 0.02
R5396:Chst11 UTSW 10 83,027,083 (GRCm39) missense probably damaging 0.98
R6512:Chst11 UTSW 10 83,027,302 (GRCm39) missense probably damaging 1.00
R6964:Chst11 UTSW 10 83,027,215 (GRCm39) missense probably damaging 1.00
R7803:Chst11 UTSW 10 83,027,020 (GRCm39) missense possibly damaging 0.81
R7925:Chst11 UTSW 10 83,026,788 (GRCm39) missense probably damaging 0.98
R9194:Chst11 UTSW 10 83,027,319 (GRCm39) missense probably damaging 1.00
X0033:Chst11 UTSW 10 83,026,984 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAACAAAGGGATCAGCTTTCC -3'
(R):5'- CAAGCGGTGGTTGATCTCTG -3'

Sequencing Primer
(F):5'- AGGGATCAGCTTTCCACGGTAATC -3'
(R):5'- GTCTTCAGGTTGGCCGACAC -3'
Posted On 2022-05-16