Incidental Mutation 'IGL01910:Chst9'
ID 179785
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 # IGL01910
Quality Score
Status
Chromosome 18
Chromosomal Location 15584981-15893214 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 15585931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 211 (A211S)
Ref Sequence ENSEMBL: ENSMUSP00000049975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053017] [ENSMUST00000130553]
AlphaFold Q76EC5
Predicted Effect possibly damaging
Transcript: ENSMUST00000053017
AA Change: A211S

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000049975
Gene: ENSMUSG00000047161
AA Change: A211S

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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ammecr1l A G 18: 31,904,995 (GRCm39) M79V probably benign Het
Arhgap5 T A 12: 52,563,644 (GRCm39) V205E probably benign Het
BC061237 T C 14: 44,743,445 (GRCm39) probably benign Het
Calr T A 8: 85,571,598 (GRCm39) probably benign Het
Celsr1 T C 15: 85,814,096 (GRCm39) N1942S probably benign Het
Cfap100 T C 6: 90,386,606 (GRCm39) D373G probably damaging Het
Ephb1 T C 9: 101,879,056 (GRCm39) E478G probably benign Het
Fbrsl1 A T 5: 110,511,602 (GRCm39) V387D probably damaging Het
Fxyd5 T C 7: 30,734,643 (GRCm39) I161V probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hmx2 C T 7: 131,157,401 (GRCm39) R172C probably damaging Het
Itgam C T 7: 127,682,948 (GRCm39) A320V probably damaging Het
Macrod2 T A 2: 142,138,485 (GRCm39) N361K probably benign Het
Mbl1 T C 14: 40,875,703 (GRCm39) probably null Het
Nudt9 G A 5: 104,202,175 (GRCm39) G79R probably damaging Het
Ppan C T 9: 20,802,232 (GRCm39) R208C probably damaging Het
Rpl23a-ps1 A G 1: 46,020,940 (GRCm39) noncoding transcript Het
Slc17a1 A G 13: 24,062,440 (GRCm39) probably benign Het
Tep1 T C 14: 51,081,569 (GRCm39) T1269A probably benign Het
Vmn2r16 A T 5: 109,487,951 (GRCm39) N275Y probably damaging Het
Wdr93 T C 7: 79,421,321 (GRCm39) S405P probably damaging Het
Xcl1 T A 1: 164,759,458 (GRCm39) I81F probably damaging Het
Other mutations in Chst9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00788:Chst9 APN 18 15,586,087 (GRCm39) missense probably benign 0.34
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 2014-05-07