Incidental Mutation 'R5469:Chst10'
ID 433389
Institutional Source Beutler Lab
Gene Symbol Chst10
Ensembl Gene ENSMUSG00000026080
Gene Name carbohydrate sulfotransferase 10
Synonyms ST, Hnk-1st
MMRRC Submission 043030-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.221) question?
Stock # R5469 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 38902948-38937242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38904608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 362 (Y362N)
Ref Sequence ENSEMBL: ENSMUSP00000141295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027249] [ENSMUST00000192948] [ENSMUST00000193441] [ENSMUST00000194361] [ENSMUST00000194657]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000027249
AA Change: Y366N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027249
Gene: ENSMUSG00000026080
AA Change: Y366N

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
Pfam:Sulfotransfer_2 129 367 7.1e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192948
SMART Domains Protein: ENSMUSP00000141470
Gene: ENSMUSG00000026080

DomainStartEndE-ValueType
Pfam:Sulfotransfer_2 22 238 2.5e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193441
SMART Domains Protein: ENSMUSP00000142028
Gene: ENSMUSG00000026080

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
Pfam:Sulfotransfer_2 129 196 2.1e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000194361
AA Change: Y362N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141295
Gene: ENSMUSG00000026080
AA Change: Y362N

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
Pfam:Sulfotransfer_2 125 363 1.3e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194657
SMART Domains Protein: ENSMUSP00000141481
Gene: ENSMUSG00000026080

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein encoded by this gene transfers sulfate to the C-3 hydroxyl of terminal glucuronic acid of protein- and lipid-linked oligosaccharides. This protein was first identified as a sulfotransferase that acts on the human natural killer-1 (HNK-1) glycan; HNK-1 is a carbohydrate involved in neurodevelopment and synaptic plasticity.[provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous mutation of this gene results in altered synaptic transmission and long term potentiation. Mutant animals exhibit impaired spatial learning and long term memory deficits. Mice homozygous for a different knock-out allele exhibit reduced male and female fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Allc A T 12: 28,605,305 (GRCm39) N331K probably benign Het
Anapc1 G T 2: 128,517,621 (GRCm39) S341* probably null Het
Cacna1e T C 1: 154,319,683 (GRCm39) E1339G probably damaging Het
Cacna2d1 T A 5: 16,557,676 (GRCm39) I702N probably damaging Het
Casp2 C A 6: 42,246,268 (GRCm39) H209N probably benign Het
Casr A G 16: 36,330,392 (GRCm39) V314A probably benign Het
Ccne2 A T 4: 11,201,353 (GRCm39) R294* probably null Het
Cd180 T A 13: 102,841,342 (GRCm39) H129Q probably benign Het
Ctnna1 T A 18: 35,372,573 (GRCm39) D509E probably benign Het
Ctsh G T 9: 89,942,564 (GRCm39) probably null Het
Dhx29 C T 13: 113,081,073 (GRCm39) A369V possibly damaging Het
Enox1 A G 14: 77,830,414 (GRCm39) T340A probably benign Het
Fam135b T A 15: 71,317,892 (GRCm39) T1357S probably benign Het
Flt3 A T 5: 147,291,893 (GRCm39) S544T possibly damaging Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Gsap A T 5: 21,495,542 (GRCm39) Y831F possibly damaging Het
Hnrnpr C T 4: 136,046,745 (GRCm39) T142M probably damaging Het
Jak3 A G 8: 72,131,417 (GRCm39) D94G probably benign Het
Ktn1 A T 14: 47,928,377 (GRCm39) E579D probably damaging Het
Lama2 G A 10: 26,917,185 (GRCm39) P2247S possibly damaging Het
Lrba C T 3: 86,449,948 (GRCm39) S2089F probably damaging Het
Map1b C T 13: 99,565,846 (GRCm39) V2292M unknown Het
Mphosph10 A T 7: 64,039,193 (GRCm39) probably null Het
Pappa C T 4: 65,123,389 (GRCm39) T908M probably benign Het
Pdcd10 T A 3: 75,428,364 (GRCm39) K150* probably null Het
Piezo2 A T 18: 63,160,935 (GRCm39) I2275N probably damaging Het
Pmvk T C 3: 89,374,989 (GRCm39) probably null Het
Pold2 G A 11: 5,823,048 (GRCm39) P376S probably damaging Het
Prtg A T 9: 72,799,247 (GRCm39) Q759L probably damaging Het
Rad51ap1 C T 6: 126,905,190 (GRCm39) S107N probably damaging Het
Rfk T A 19: 17,372,566 (GRCm39) N29K probably damaging Het
Ror2 T C 13: 53,271,375 (GRCm39) M315V probably benign Het
Rrn3 A G 16: 13,630,964 (GRCm39) E600G probably benign Het
Ryk A G 9: 102,784,153 (GRCm39) Y593C possibly damaging Het
Slc30a3 T A 5: 31,246,004 (GRCm39) D193V probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Srbd1 C A 17: 86,427,370 (GRCm39) C421F possibly damaging Het
Sstr5 A C 17: 25,711,043 (GRCm39) V62G probably damaging Het
Tfip11 G A 5: 112,482,191 (GRCm39) W483* probably null Het
Tlk1 T C 2: 70,552,012 (GRCm39) H553R probably benign Het
Tnc T C 4: 63,932,162 (GRCm39) probably null Het
Trav12-1 A G 14: 53,775,930 (GRCm39) T27A probably damaging Het
Usp9y G A Y: 1,364,714 (GRCm39) T1033I probably benign Het
V1ra8 C T 6: 90,180,186 (GRCm39) H130Y probably benign Het
Vmn2r77 A T 7: 86,451,271 (GRCm39) M386L probably benign Het
Other mutations in Chst10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01947:Chst10 APN 1 38,904,646 (GRCm39) missense probably damaging 1.00
R0142:Chst10 UTSW 1 38,910,810 (GRCm39) missense probably damaging 1.00
R0513:Chst10 UTSW 1 38,904,844 (GRCm39) missense probably damaging 1.00
R1163:Chst10 UTSW 1 38,910,783 (GRCm39) missense probably damaging 1.00
R1464:Chst10 UTSW 1 38,904,772 (GRCm39) missense probably damaging 1.00
R1464:Chst10 UTSW 1 38,904,772 (GRCm39) missense probably damaging 1.00
R2129:Chst10 UTSW 1 38,904,776 (GRCm39) missense probably benign 0.41
R4163:Chst10 UTSW 1 38,910,904 (GRCm39) missense probably benign 0.01
R4712:Chst10 UTSW 1 38,904,922 (GRCm39) missense probably damaging 1.00
R5328:Chst10 UTSW 1 38,935,043 (GRCm39) start gained probably benign
R6311:Chst10 UTSW 1 38,907,128 (GRCm39) missense probably damaging 1.00
R6395:Chst10 UTSW 1 38,910,770 (GRCm39) missense probably damaging 1.00
R7156:Chst10 UTSW 1 38,913,088 (GRCm39) missense probably damaging 0.98
R7706:Chst10 UTSW 1 38,905,106 (GRCm39) missense probably damaging 0.99
R7789:Chst10 UTSW 1 38,923,532 (GRCm39) missense probably benign 0.03
R7941:Chst10 UTSW 1 38,910,772 (GRCm39) missense probably damaging 1.00
R8039:Chst10 UTSW 1 38,905,112 (GRCm39) nonsense probably null
R8252:Chst10 UTSW 1 38,923,433 (GRCm39) missense probably benign 0.00
R9482:Chst10 UTSW 1 38,907,116 (GRCm39) missense probably damaging 1.00
R9595:Chst10 UTSW 1 38,913,029 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GGGTCATCAGAGCATCTGTC -3'
(R):5'- TCAAGTACAGTGTGGTCGGAC -3'

Sequencing Primer
(F):5'- GTCATCAGAGCATCTGTCACCTGAG -3'
(R):5'- GACACCATGAGACCCTGGAG -3'
Posted On 2016-10-06