Incidental Mutation 'R7789:Chst10'
ID 599706
Institutional Source Beutler Lab
Gene Symbol Chst10
Ensembl Gene ENSMUSG00000026080
Gene Name carbohydrate sulfotransferase 10
Synonyms ST, Hnk-1st
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.136) question?
Stock # R7789 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 38863867-38898161 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38884451 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 18 (N18S)
Ref Sequence ENSEMBL: ENSMUSP00000027249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027249] [ENSMUST00000193435] [ENSMUST00000193441] [ENSMUST00000194361] [ENSMUST00000194657]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000027249
AA Change: N18S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000027249
Gene: ENSMUSG00000026080
AA Change: N18S

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
Pfam:Sulfotransfer_2 129 367 7.1e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193435
SMART Domains Protein: ENSMUSP00000141604
Gene: ENSMUSG00000026080

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193441
AA Change: N18S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000142028
Gene: ENSMUSG00000026080
AA Change: N18S

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
Pfam:Sulfotransfer_2 129 196 2.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194361
AA Change: N14S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000141295
Gene: ENSMUSG00000026080
AA Change: N14S

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
Pfam:Sulfotransfer_2 125 363 1.3e-51 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000194657
AA Change: N18S

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141481
Gene: ENSMUSG00000026080
AA Change: N18S

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
Meta Mutation Damage Score 0.0619 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 99% (77/78)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G A 16: 4,864,311 E163K probably benign Het
Adam34 T A 8: 43,652,451 R52S probably benign Het
Adcy8 A T 15: 64,871,774 C328* probably null Het
Ankrd26 G T 6: 118,527,798 H717N probably damaging Het
Ankrd26 G T 6: 118,527,799 S716R possibly damaging Het
Ankrd40 C A 11: 94,334,709 P189T probably damaging Het
Anln A G 9: 22,352,037 S113P Het
Arid5b C T 10: 68,098,587 G495E probably benign Het
Asxl1 C T 2: 153,400,023 T832I probably benign Het
Bicd2 C T 13: 49,379,659 R574C probably damaging Het
Boll T C 1: 55,360,667 probably null Het
Casr A G 16: 36,495,291 F806L probably damaging Het
Casz1 C A 4: 148,929,406 N142K probably benign Het
Cbl C T 9: 44,163,467 D433N probably damaging Het
Ceacam14 T A 7: 17,814,171 V62D probably damaging Het
Cyp2j6 C T 4: 96,545,716 R119H probably benign Het
Cyp4a14 C G 4: 115,494,910 V102L probably benign Het
Dnajb3 A T 1: 88,205,677 M1K probably null Het
Dnajc6 A T 4: 101,618,532 K534M possibly damaging Het
Dnase2a T C 8: 84,908,876 probably null Het
Dock10 A G 1: 80,559,213 I985T possibly damaging Het
Emsy G T 7: 98,621,489 P436Q probably damaging Het
Enpp1 A T 10: 24,654,083 probably null Het
Erc1 T A 6: 119,773,709 R353* probably null Het
Fam196b T A 11: 34,402,537 M193K probably benign Het
Fbn2 T A 18: 58,039,313 D2140V probably benign Het
Fgfr1 T A 8: 25,562,313 Y218* probably null Het
Fhod1 C T 8: 105,330,108 R1045H probably damaging Het
Focad G T 4: 88,229,406 L427F unknown Het
Gbf1 T A 19: 46,254,002 L144M probably damaging Het
Glmn T G 5: 107,549,075 N592T probably benign Het
Golgb1 C G 16: 36,875,399 P87A unknown Het
H2bfm G A X: 136,927,722 R120K unknown Het
Itga9 T G 9: 118,658,496 F216V possibly damaging Het
Klhl18 T C 9: 110,439,008 D149G unknown Het
Lcat C T 8: 105,942,225 V114M probably benign Het
Lrrc8c C A 5: 105,607,200 N280K probably damaging Het
Mettl8 T C 2: 70,966,462 Y283C probably damaging Het
Mgat4a A T 1: 37,490,279 I173K probably damaging Het
Mmp1a T C 9: 7,475,265 V345A possibly damaging Het
Mok T A 12: 110,811,827 H215L probably damaging Het
Mphosph9 C G 5: 124,315,587 E221Q probably damaging Het
Muc4 C G 16: 32,753,930 Q1269E probably benign Het
Mug1 C A 6: 121,861,220 H470N possibly damaging Het
Myom1 A G 17: 71,117,436 T1525A probably benign Het
Nap1l1 C T 10: 111,490,456 S143L probably benign Het
Olfr366 C T 2: 37,219,660 T57I probably benign Het
Olfr531 A T 7: 140,400,697 Y116* probably null Het
Olfr646 T A 7: 104,106,988 S236R probably damaging Het
Olfr847 G T 9: 19,375,065 T272K probably benign Het
Plbd2 T C 5: 120,485,754 S568G probably damaging Het
Plxna4 T A 6: 32,206,233 probably null Het
Plxnc1 T A 10: 94,794,477 E1520V probably damaging Het
Ppil3 G A 1: 58,434,379 T104I possibly damaging Het
Ptprm A T 17: 67,095,539 V118E probably damaging Het
Rimbp2 T C 5: 128,774,335 D849G probably damaging Het
Rnf213 T C 11: 119,470,219 probably null Het
Sema3f T A 9: 107,705,432 K37N probably benign Het
Sh3glb1 G T 3: 144,692,131 probably null Het
Sh3rf3 A G 10: 59,086,815 D571G probably benign Het
Sipa1l3 T C 7: 29,377,725 Y874C probably damaging Het
Smchd1 G A 17: 71,475,301 probably benign Het
Snrnp70 A T 7: 45,376,621 Y441* probably null Het
Ssrp1 C T 2: 85,041,181 R316W probably damaging Het
Syt10 A T 15: 89,826,898 V144E probably damaging Het
Tdrd12 A G 7: 35,488,692 L562P Het
Trim68 T C 7: 102,684,469 D2G possibly damaging Het
Trub2 T A 2: 29,777,908 H240L probably damaging Het
Tssc4 A G 7: 143,069,778 probably null Het
Usp7 T A 16: 8,698,811 Q539L probably benign Het
Vmn2r17 T A 5: 109,452,965 C710S possibly damaging Het
Vmn2r99 G T 17: 19,393,817 V600F possibly damaging Het
Vps13d C T 4: 145,100,065 V2879M Het
Vrtn T A 12: 84,650,306 M610K probably benign Het
Xpo4 T C 14: 57,613,349 E366G probably benign Het
Zyg11a G A 4: 108,183,648 P703S probably damaging Het
Other mutations in Chst10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01947:Chst10 APN 1 38865565 missense probably damaging 1.00
R0142:Chst10 UTSW 1 38871729 missense probably damaging 1.00
R0513:Chst10 UTSW 1 38865763 missense probably damaging 1.00
R1163:Chst10 UTSW 1 38871702 missense probably damaging 1.00
R1464:Chst10 UTSW 1 38865691 missense probably damaging 1.00
R1464:Chst10 UTSW 1 38865691 missense probably damaging 1.00
R2129:Chst10 UTSW 1 38865695 missense probably benign 0.41
R4163:Chst10 UTSW 1 38871823 missense probably benign 0.01
R4712:Chst10 UTSW 1 38865841 missense probably damaging 1.00
R5328:Chst10 UTSW 1 38895962 start gained probably benign
R5469:Chst10 UTSW 1 38865527 missense probably damaging 1.00
R6311:Chst10 UTSW 1 38868047 missense probably damaging 1.00
R6395:Chst10 UTSW 1 38871689 missense probably damaging 1.00
R7156:Chst10 UTSW 1 38874007 missense probably damaging 0.98
R7706:Chst10 UTSW 1 38866025 missense probably damaging 0.99
R7941:Chst10 UTSW 1 38871691 missense probably damaging 1.00
R8039:Chst10 UTSW 1 38866031 nonsense probably null
R8252:Chst10 UTSW 1 38884352 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGGACAGCTACCCTCTATGC -3'
(R):5'- GGCCCTTCAGTAGTATTCATTAAGTG -3'

Sequencing Primer
(F):5'- AGCTACCCTCTATGCGTGGTG -3'
(R):5'- CAGTAGTATTCATTAAGTGCGAAATG -3'
Posted On 2019-11-26