Incidental Mutation 'IGL00788:Chst9'
ID 9712
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chst9
Ensembl Gene ENSMUSG00000047161
Gene Name carbohydrate sulfotransferase 9
Synonyms 5430438D01Rik, GalNAc4ST-2
Accession Numbers
Essential gene? Possibly essential (E-score: 0.648) question?
Stock # IGL00788
Quality Score
Status
Chromosome 18
Chromosomal Location 15584981-15893214 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15586087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 159 (Y159H)
Ref Sequence ENSEMBL: ENSMUSP00000049975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053017] [ENSMUST00000130553]
AlphaFold Q76EC5
Predicted Effect probably benign
Transcript: ENSMUST00000053017
AA Change: Y159H

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000049975
Gene: ENSMUSG00000047161
AA Change: Y159H

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 68 80 N/A INTRINSIC
Pfam:Sulfotransfer_2 174 409 1.9e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130553
SMART Domains Protein: ENSMUSP00000121484
Gene: ENSMUSG00000047161

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
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 non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Sulfate groups on carbohydrates confer highly specific functions to glycoproteins, glycolipids, and proteoglycans, and are critical for cell-cell interaction, signal transduction, and embryonic development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 A G 5: 4,110,480 (GRCm39) E3061G probably damaging Het
Armh3 C T 19: 45,920,789 (GRCm39) probably null Het
Casd1 A G 6: 4,624,400 (GRCm39) T398A probably benign Het
Ceacam2 C T 7: 25,237,998 (GRCm39) probably null Het
Cip2a T A 16: 48,829,432 (GRCm39) probably benign Het
Cops4 A G 5: 100,681,421 (GRCm39) E152G probably damaging Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Dpy19l1 A G 9: 24,373,864 (GRCm39) probably benign Het
Gbp8 T A 5: 105,198,863 (GRCm39) E17D probably benign Het
Grik5 G A 7: 24,764,818 (GRCm39) H108Y probably damaging Het
Gsap G A 5: 21,426,303 (GRCm39) probably benign Het
Gsap G A 5: 21,459,022 (GRCm39) V496M probably damaging Het
Hectd1 C T 12: 51,795,571 (GRCm39) S2286N probably damaging Het
Hgf A T 5: 16,803,228 (GRCm39) Q380L probably damaging Het
Hsd11b1 C T 1: 192,923,766 (GRCm39) M1I probably null Het
Kank2 A G 9: 21,691,775 (GRCm39) probably benign Het
Klhl6 G A 16: 19,775,812 (GRCm39) L249F probably benign Het
Lrba A T 3: 86,234,992 (GRCm39) M846L probably damaging Het
Macrod2 T A 2: 142,052,069 (GRCm39) probably benign Het
Mroh9 A T 1: 162,852,227 (GRCm39) S821T probably benign Het
Myo5a A G 9: 75,076,241 (GRCm39) T819A probably benign Het
Neb A T 2: 52,095,744 (GRCm39) probably benign Het
Pcyt1b T C X: 92,778,515 (GRCm39) F255L probably benign Het
Rttn T A 18: 88,990,633 (GRCm39) S57T probably benign Het
Senp2 A G 16: 21,837,114 (GRCm39) D121G probably damaging Het
Slc25a21 A T 12: 56,760,597 (GRCm39) probably benign Het
Sorbs1 A G 19: 40,325,487 (GRCm39) probably benign Het
Spats2l T A 1: 57,924,864 (GRCm39) N87K probably damaging Het
Sulf1 A G 1: 12,918,673 (GRCm39) D99G probably damaging Het
Sytl2 T A 7: 90,031,906 (GRCm39) probably benign Het
Trim13 T C 14: 61,843,119 (GRCm39) F379L probably benign Het
Other mutations in Chst9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01910:Chst9 APN 18 15,585,931 (GRCm39) missense possibly damaging 0.90
IGL03038:Chst9 APN 18 15,628,360 (GRCm39) missense probably benign
IGL03146:Chst9 APN 18 15,586,035 (GRCm39) missense probably damaging 1.00
PIT4802001:Chst9 UTSW 18 15,585,849 (GRCm39) missense probably benign 0.01
R0536:Chst9 UTSW 18 15,628,387 (GRCm39) splice site probably benign
R0647:Chst9 UTSW 18 15,585,726 (GRCm39) missense probably damaging 1.00
R1240:Chst9 UTSW 18 15,586,231 (GRCm39) missense probably benign
R1580:Chst9 UTSW 18 15,586,122 (GRCm39) missense probably benign 0.02
R1892:Chst9 UTSW 18 15,586,017 (GRCm39) missense probably damaging 1.00
R2420:Chst9 UTSW 18 15,585,341 (GRCm39) missense probably damaging 1.00
R2446:Chst9 UTSW 18 15,585,895 (GRCm39) missense possibly damaging 0.90
R4737:Chst9 UTSW 18 15,585,834 (GRCm39) missense probably damaging 1.00
R4790:Chst9 UTSW 18 15,586,107 (GRCm39) missense probably damaging 1.00
R4956:Chst9 UTSW 18 15,851,045 (GRCm39) missense probably damaging 1.00
R5202:Chst9 UTSW 18 15,586,296 (GRCm39) missense probably benign 0.02
R5402:Chst9 UTSW 18 15,585,872 (GRCm39) missense probably damaging 0.98
R5754:Chst9 UTSW 18 15,586,254 (GRCm39) missense possibly damaging 0.77
R6035:Chst9 UTSW 18 15,585,910 (GRCm39) missense probably benign 0.13
R6035:Chst9 UTSW 18 15,585,910 (GRCm39) missense probably benign 0.13
R7225:Chst9 UTSW 18 15,585,718 (GRCm39) missense probably damaging 0.99
R7801:Chst9 UTSW 18 15,585,334 (GRCm39) missense probably benign 0.00
R7896:Chst9 UTSW 18 15,585,846 (GRCm39) missense probably damaging 1.00
R8159:Chst9 UTSW 18 15,585,365 (GRCm39) nonsense probably null
R8776:Chst9 UTSW 18 15,586,086 (GRCm39) missense possibly damaging 0.72
R8776-TAIL:Chst9 UTSW 18 15,586,086 (GRCm39) missense possibly damaging 0.72
R8810:Chst9 UTSW 18 15,850,983 (GRCm39) missense probably benign 0.00
R8861:Chst9 UTSW 18 15,585,630 (GRCm39) missense possibly damaging 0.88
R9285:Chst9 UTSW 18 15,586,017 (GRCm39) missense probably damaging 1.00
R9780:Chst9 UTSW 18 15,586,221 (GRCm39) missense probably benign 0.00
Posted On 2012-12-06