Incidental Mutation 'R1580:Chst9'
ID 171370
Institutional Source Beutler Lab
Gene Symbol Chst9
Ensembl Gene ENSMUSG00000047161
Gene Name carbohydrate sulfotransferase 9
Synonyms 5430438D01Rik, GalNAc4ST-2
MMRRC Submission 039617-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.648) question?
Stock # R1580 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 15584981-15893214 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 15586122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 147 (K147T)
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: K147T

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000049975
Gene: ENSMUSG00000047161
AA Change: K147T

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
Meta Mutation Damage Score 0.0714 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.4%
  • 20x: 89.8%
Validation Efficiency 96% (43/45)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,305,124 (GRCm39) V2044I possibly damaging Het
Adgrv1 A G 13: 81,614,279 (GRCm39) probably null Het
Arhgef38 T C 3: 132,839,465 (GRCm39) Q526R probably benign Het
Atp2c2 A G 8: 120,479,726 (GRCm39) N752D probably benign Het
Atp6v0a1 T C 11: 100,920,030 (GRCm39) I221T probably damaging Het
Atp8b5 T C 4: 43,355,673 (GRCm39) V551A possibly damaging Het
B3galnt1 A G 3: 69,483,040 (GRCm39) S74P possibly damaging Het
Bcl2l13 A G 6: 120,842,675 (GRCm39) I123V probably benign Het
Brms1l A T 12: 55,915,007 (GRCm39) K305N probably damaging Het
Ccdc82 C T 9: 13,252,385 (GRCm39) R226C probably damaging Het
Clec16a A G 16: 10,413,762 (GRCm39) R390G probably damaging Het
Clec5a G T 6: 40,562,153 (GRCm39) H4N probably benign Het
Csmd1 T A 8: 15,975,299 (GRCm39) Q2970L probably damaging Het
Cyp2a4 T C 7: 26,007,076 (GRCm39) I61T possibly damaging Het
Cyp3a16 T A 5: 145,378,884 (GRCm39) K379I possibly damaging Het
Cyp3a16 T C 5: 145,378,885 (GRCm39) K379E probably damaging Het
Dok2 A G 14: 71,014,397 (GRCm39) D195G probably benign Het
Emilin1 A G 5: 31,074,764 (GRCm39) E335G probably damaging Het
Gm7361 G T 5: 26,462,768 (GRCm39) L3F probably damaging Het
Haus1 T C 18: 77,854,620 (GRCm39) D50G probably damaging Het
Igf1r T C 7: 67,857,617 (GRCm39) V1099A probably benign Het
Kif15 T C 9: 122,789,021 (GRCm39) V71A probably benign Het
Klk10 C T 7: 43,432,286 (GRCm39) A73V probably damaging Het
Lins1 C A 7: 66,364,239 (GRCm39) D711E probably benign Het
Mbtps1 C T 8: 120,265,639 (GRCm39) V303I possibly damaging Het
Mest G A 6: 30,745,822 (GRCm39) probably benign Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Or14c43 A G 7: 86,114,658 (GRCm39) E13G probably benign Het
Or6c210 G T 10: 129,496,184 (GRCm39) V170F probably benign Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rtf2 A G 2: 172,287,285 (GRCm39) D68G probably damaging Het
Sbspon C A 1: 15,962,692 (GRCm39) C62F probably damaging Het
Spata31f3 T C 4: 42,874,020 (GRCm39) probably null Het
Spg7 T A 8: 123,816,977 (GRCm39) probably benign Het
Trabd2b T C 4: 114,437,531 (GRCm39) V236A possibly damaging Het
Vmn2r10 A T 5: 109,154,117 (GRCm39) N62K possibly damaging Het
Vmn2r45 T G 7: 8,474,746 (GRCm39) S761R possibly damaging Het
Zfp580 C T 7: 5,056,284 (GRCm39) R215C probably damaging Het
Zfpm2 A G 15: 40,966,605 (GRCm39) D898G possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- GCCTTTCCAAACACCGGATGGTAG -3'
(R):5'- TTCACAAAGGGAGAACGGAGCTTAC -3'

Sequencing Primer
(F):5'- CCCTAAATGCGGAGACTAATCTTTC -3'
(R):5'- ACGGAGCTTACAGATCAACTG -3'
Posted On 2014-04-13