Incidental Mutation 'IGL02676:Chst11'
ID 303139
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chst11
Ensembl Gene ENSMUSG00000034612
Gene Name carbohydrate sulfotransferase 11
Synonyms C4ST1, 1110020P09Rik, chondroitin 4, C4ST-1, C4ST
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02676
Quality Score
Status
Chromosome 10
Chromosomal Location 82821332-83031734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83027563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 330 (L330Q)
Ref Sequence ENSEMBL: ENSMUSP00000045349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040110]
AlphaFold Q9JME2
Predicted Effect probably damaging
Transcript: ENSMUST00000040110
AA Change: L330Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045349
Gene: ENSMUSG00000034612
AA Change: L330Q

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Sulfotransfer_2 108 344 5.6e-71 PFAM
Coding Region Coverage
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc G A 18: 34,448,687 (GRCm39) S1827N probably damaging Het
Atrnl1 T A 19: 57,680,316 (GRCm39) C739S probably damaging Het
Cep350 T C 1: 155,737,977 (GRCm39) E2622G possibly damaging Het
Chd5 C T 4: 152,440,530 (GRCm39) probably benign Het
Clcnka A T 4: 141,120,094 (GRCm39) V275E probably damaging Het
Clip4 G A 17: 72,135,616 (GRCm39) S456N probably damaging Het
Cmya5 A T 13: 93,229,361 (GRCm39) I1909N probably damaging Het
Cyp26b1 A G 6: 84,553,626 (GRCm39) I176T probably damaging Het
Dst A G 1: 34,346,668 (GRCm39) R7717G probably damaging Het
Eml2 C T 7: 18,918,846 (GRCm39) R99* probably null Het
Fibin T C 2: 110,192,929 (GRCm39) Q71R probably benign Het
Fsip2 T G 2: 82,812,501 (GRCm39) I2940S possibly damaging Het
Gabrb3 G T 7: 57,241,112 (GRCm39) probably benign Het
Gfra1 G A 19: 58,441,787 (GRCm39) T48I probably damaging Het
Gm6483 C T 8: 19,743,675 (GRCm39) noncoding transcript Het
Hdgfl1 G A 13: 26,953,348 (GRCm39) R242C possibly damaging Het
Hmcn1 T C 1: 150,494,760 (GRCm39) T4110A probably benign Het
Lama2 T G 10: 26,994,489 (GRCm39) M1807L probably benign Het
Larp4 T C 15: 99,888,302 (GRCm39) V113A possibly damaging Het
Mkx T C 18: 7,000,640 (GRCm39) T101A probably benign Het
Nfe2l1 A G 11: 96,718,491 (GRCm39) F15L probably damaging Het
Nherf2 A T 17: 24,860,930 (GRCm39) V204E probably damaging Het
Nif3l1 G A 1: 58,494,895 (GRCm39) probably null Het
Nop14 A G 5: 34,796,565 (GRCm39) V764A probably damaging Het
Nosip C A 7: 44,726,752 (GRCm39) A259E probably damaging Het
Ntn5 T C 7: 45,341,300 (GRCm39) probably benign Het
Or9g20 T C 2: 85,629,934 (GRCm39) I227V possibly damaging Het
Phospho1 G A 11: 95,721,714 (GRCm39) G128D probably damaging Het
Ppp4r3a G A 12: 101,008,770 (GRCm39) T703M probably benign Het
Pramel21 T C 4: 143,342,667 (GRCm39) F258S possibly damaging Het
Pramel58 A G 5: 94,831,730 (GRCm39) T246A possibly damaging Het
Prdm8 G A 5: 98,334,418 (GRCm39) E662K probably damaging Het
Ralgapa1 A G 12: 55,723,202 (GRCm39) S1775P probably damaging Het
Rapgef6 T C 11: 54,540,172 (GRCm39) probably benign Het
Rasef T C 4: 73,677,966 (GRCm39) T87A possibly damaging Het
Scrn3 A G 2: 73,160,215 (GRCm39) Q286R probably benign Het
Sema3d A T 5: 12,620,945 (GRCm39) Q517L probably benign Het
Taf6l T C 19: 8,752,413 (GRCm39) Y425C probably damaging Het
Tbk1 T C 10: 121,403,985 (GRCm39) N254S possibly damaging Het
Tcf3 C T 10: 80,256,925 (GRCm39) G64R probably damaging Het
Tmco4 T C 4: 138,750,380 (GRCm39) probably null Het
Trappc11 A G 8: 47,946,448 (GRCm39) probably benign Het
Vmn1r19 A T 6: 57,382,025 (GRCm39) I193F possibly damaging Het
Vmn2r14 G A 5: 109,367,882 (GRCm39) T370I probably benign Het
Vmn2r65 T A 7: 84,589,381 (GRCm39) H845L possibly damaging Het
Vmn2r98 A T 17: 19,285,521 (GRCm39) T114S probably benign Het
Zfp280d A T 9: 72,242,356 (GRCm39) R661S probably damaging Het
Zranb1 T C 7: 132,568,410 (GRCm39) I356T 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
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
R9406:Chst11 UTSW 10 83,026,881 (GRCm39) missense possibly damaging 0.70
X0033:Chst11 UTSW 10 83,026,984 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16