Incidental Mutation 'IGL03038:Chst9'
ID 408798
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 # IGL03038
Quality Score
Status
Chromosome 18
Chromosomal Location 15584981-15893214 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15628360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 55 (Q55R)
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: Q55R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049975
Gene: ENSMUSG00000047161
AA Change: Q55R

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T C 7: 131,030,185 (GRCm39) Y111H probably damaging Het
Arhgef6 C T X: 56,290,966 (GRCm39) V262I probably benign Het
Arsk C A 13: 76,213,632 (GRCm39) probably benign Het
Ces1b T C 8: 93,793,680 (GRCm39) E303G probably benign Het
Cntnap3 A T 13: 64,888,839 (GRCm39) D1153E possibly damaging Het
D130043K22Rik A G 13: 25,063,602 (GRCm39) E681G probably damaging Het
Fhad1 T C 4: 141,729,805 (GRCm39) E66G probably benign Het
Flii T C 11: 60,615,658 (GRCm39) T69A probably benign Het
Foxl1 A C 8: 121,855,158 (GRCm39) E153A probably damaging Het
Gstm3 T C 3: 107,873,485 (GRCm39) D162G possibly damaging Het
Gtpbp3 G A 8: 71,941,947 (GRCm39) V96I possibly damaging Het
Insig2 G A 1: 121,247,403 (GRCm39) T56I probably damaging Het
Kif13a A G 13: 46,926,314 (GRCm39) L264P probably damaging Het
Lama3 T G 18: 12,552,307 (GRCm39) C420G probably damaging Het
Lrp2 C T 2: 69,305,808 (GRCm39) G2918S probably damaging Het
Lrrc8b T C 5: 105,629,358 (GRCm39) L568P probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Malrd1 G A 2: 16,132,778 (GRCm39) D1900N unknown Het
Mastl C A 2: 23,030,627 (GRCm39) probably benign Het
Med24 T G 11: 98,607,010 (GRCm39) T276P possibly damaging Het
Naip1 A C 13: 100,573,841 (GRCm39) Y239* probably null Het
Nhsl2 A G X: 101,122,491 (GRCm39) K765E probably damaging Het
Npy A G 6: 49,800,588 (GRCm39) N4S probably benign Het
Nsun2 A G 13: 69,767,703 (GRCm39) D188G probably damaging Het
Or6c88 A G 10: 129,406,790 (GRCm39) T89A probably benign Het
Pde1a C A 2: 79,718,290 (GRCm39) probably benign Het
Pik3cb G A 9: 98,947,650 (GRCm39) A509V probably damaging Het
Pou2f2 C T 7: 24,796,577 (GRCm39) S315N probably damaging Het
Prdm2 A C 4: 142,860,571 (GRCm39) S906R probably damaging Het
Prkaca C A 8: 84,721,580 (GRCm39) Q300K probably benign Het
Prox2 T C 12: 85,142,038 (GRCm39) D55G possibly damaging Het
Ryr3 T A 2: 112,498,465 (GRCm39) T3612S possibly damaging Het
S1pr1 T A 3: 115,506,343 (GRCm39) I84L possibly damaging Het
Slc47a1 C T 11: 61,243,918 (GRCm39) V384M probably benign Het
Slc6a20b T C 9: 123,426,394 (GRCm39) N497S possibly damaging Het
Spen C A 4: 141,265,550 (GRCm39) R3L unknown Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Ttll6 T C 11: 96,042,786 (GRCm39) F444S probably damaging Het
Vwce T A 19: 10,624,035 (GRCm39) Y309N possibly damaging Het
Vwf T C 6: 125,581,120 (GRCm39) L586P possibly damaging Het
Wdr35 T C 12: 9,024,185 (GRCm39) probably benign Het
Other mutations in Chst9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00788:Chst9 APN 18 15,586,087 (GRCm39) missense probably benign 0.34
IGL01910:Chst9 APN 18 15,585,931 (GRCm39) missense possibly damaging 0.90
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 2016-08-02