Incidental Mutation 'IGL03082:Chst1'
ID 417921
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chst1
Ensembl Gene ENSMUSG00000027221
Gene Name carbohydrate sulfotransferase 1
Synonyms GST-1, KSGAL6ST, C6ST, 2610008E20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # IGL03082
Quality Score
Status
Chromosome 2
Chromosomal Location 92430052-92445595 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 92444278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 250 (T250I)
Ref Sequence ENSEMBL: ENSMUSP00000064246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065797]
AlphaFold Q9EQC0
Predicted Effect possibly damaging
Transcript: ENSMUST00000065797
AA Change: T250I

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000064246
Gene: ENSMUSG00000027221
AA Change: T250I

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Sulfotransfer_1 60 384 7.1e-64 PFAM
Pfam:Sulfotransfer_3 61 323 1.7e-14 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the keratin sulfotransferase family of proteins. The encoded enzyme catalyzes the sulfation of the proteoglycan keratin. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased male sibling aggression when house together, a small decrease in the peripheral and mesenteric lymph nodes and peripheral blood and a small increase in the peripheral lymph nodes and peripheral blood. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asic1 T A 15: 99,594,428 (GRCm39) N324K probably benign Het
Atpaf2 T C 11: 60,294,670 (GRCm39) E251G probably damaging Het
Cacna1d T C 14: 29,821,190 (GRCm39) K1109E probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cpne6 T C 14: 55,753,760 (GRCm39) L406P probably damaging Het
Cryz A G 3: 154,310,563 (GRCm39) M8V probably damaging Het
Dpysl2 T C 14: 67,045,459 (GRCm39) E438G probably damaging Het
Elovl1 T C 4: 118,288,077 (GRCm39) I71T probably benign Het
Eml2 T A 7: 18,935,802 (GRCm39) Y679N probably damaging Het
Fam185a G A 5: 21,660,836 (GRCm39) V284I possibly damaging Het
Fpgs C T 2: 32,575,769 (GRCm39) W391* probably null Het
Hdac11 C T 6: 91,150,085 (GRCm39) P295S probably damaging Het
Herc2 A T 7: 55,835,671 (GRCm39) I3260F probably benign Het
Hltf G A 3: 20,118,723 (GRCm39) probably benign Het
Immp2l T G 12: 41,160,900 (GRCm39) V66G possibly damaging Het
Lrrc4c T C 2: 97,460,931 (GRCm39) I519T probably benign Het
Megf8 A G 7: 25,029,661 (GRCm39) T402A probably benign Het
Mttp T G 3: 137,829,556 (GRCm39) I111L probably benign Het
Mycbp2 T A 14: 103,441,805 (GRCm39) I1987F probably benign Het
Ncr1 T A 7: 4,344,241 (GRCm39) probably benign Het
Nedd4 G A 9: 72,584,676 (GRCm39) probably null Het
Nherf4 A T 9: 44,162,083 (GRCm39) S39T possibly damaging Het
Nnt A G 13: 119,533,404 (GRCm39) F87S probably damaging Het
Nol6 A G 4: 41,115,878 (GRCm39) probably benign Het
Pkhd1 A T 1: 20,635,857 (GRCm39) I491N probably damaging Het
Plcxd2 T C 16: 45,785,473 (GRCm39) I311V probably damaging Het
Pou2f3 C A 9: 43,058,212 (GRCm39) probably null Het
Rgsl1 G A 1: 153,675,693 (GRCm39) T836I possibly damaging Het
Rttn G A 18: 89,002,072 (GRCm39) G328D probably damaging Het
Serpina11 T C 12: 103,952,560 (GRCm39) E77G probably benign Het
Slc35f1 G A 10: 52,809,234 (GRCm39) V74I probably benign Het
Slc7a6 A G 8: 106,919,854 (GRCm39) probably null Het
Smco2 A G 6: 146,761,542 (GRCm39) T154A possibly damaging Het
Tcerg1 A G 18: 42,706,422 (GRCm39) Y1033C probably damaging Het
Tmem87a A G 2: 120,227,847 (GRCm39) F100S possibly damaging Het
Tssk4 T C 14: 55,888,518 (GRCm39) F129S probably damaging Het
Wdr43 C T 17: 71,945,336 (GRCm39) T315I probably damaging Het
Other mutations in Chst1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01410:Chst1 APN 2 92,444,475 (GRCm39) missense probably damaging 0.98
IGL02339:Chst1 APN 2 92,443,922 (GRCm39) missense possibly damaging 0.74
IGL03111:Chst1 APN 2 92,443,692 (GRCm39) missense possibly damaging 0.85
R0267:Chst1 UTSW 2 92,443,951 (GRCm39) missense probably damaging 1.00
R0294:Chst1 UTSW 2 92,443,987 (GRCm39) missense probably damaging 1.00
R0504:Chst1 UTSW 2 92,444,169 (GRCm39) missense probably benign 0.20
R0707:Chst1 UTSW 2 92,443,964 (GRCm39) missense possibly damaging 0.88
R1302:Chst1 UTSW 2 92,443,864 (GRCm39) missense probably damaging 1.00
R2082:Chst1 UTSW 2 92,444,335 (GRCm39) missense possibly damaging 0.75
R4891:Chst1 UTSW 2 92,444,337 (GRCm39) missense possibly damaging 0.48
R5352:Chst1 UTSW 2 92,443,710 (GRCm39) missense possibly damaging 0.75
R6766:Chst1 UTSW 2 92,443,542 (GRCm39) missense probably damaging 1.00
R6891:Chst1 UTSW 2 92,444,088 (GRCm39) missense probably benign
R9076:Chst1 UTSW 2 92,443,761 (GRCm39) nonsense probably null
R9145:Chst1 UTSW 2 92,444,523 (GRCm39) missense probably damaging 1.00
R9745:Chst1 UTSW 2 92,444,047 (GRCm39) missense possibly damaging 0.78
Posted On 2016-08-02