Incidental Mutation 'R7952:Chst8'
ID 649614
Institutional Source Beutler Lab
Gene Symbol Chst8
Ensembl Gene ENSMUSG00000060402
Gene Name carbohydrate sulfotransferase 8
Synonyms 1500011J21Rik, GalNAc4ST-1
MMRRC Submission 045996-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7952 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 34373893-34512136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34374919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 307 (Y307H)
Ref Sequence ENSEMBL: ENSMUSP00000077752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078686] [ENSMUST00000154629] [ENSMUST00000205259]
AlphaFold Q8BQ86
Predicted Effect probably damaging
Transcript: ENSMUST00000078686
AA Change: Y307H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077752
Gene: ENSMUSG00000060402
AA Change: Y307H

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 98 108 N/A INTRINSIC
Pfam:Sulfotransfer_2 175 410 4.1e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154629
SMART Domains Protein: ENSMUSP00000123498
Gene: ENSMUSG00000060402

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000205259
AA Change: Y307H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (47/48)
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 predominantly expressed in the pituitary gland, and is localized to the golgi membrane. This protein catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. It is responsible for sulfation of GalNAc on luteinizing hormone (LH), which is required for production of the sex hormones. Mice lacking this enzyme, exhibit increased levels of circulating LH, and precocious sexual maturation of both male and female mice. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Male mice homozygous for a null allele show higher luteinizing hormone and testosterone levels, early sexual maturation and enlarged seminal vesicles; females show higher LH, estrogen and progesterone levels, early sexual maturation, enlarged uteri, a prolonged estrous cycle and increased fecundity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd3 T C 1: 180,579,903 (GRCm39) S516P possibly damaging Het
Adora1 A G 1: 134,131,024 (GRCm39) S216P possibly damaging Het
Arhgap17 G T 7: 122,885,914 (GRCm39) S739R probably benign Het
Bphl A G 13: 34,230,780 (GRCm39) T75A probably benign Het
Ccdc73 G A 2: 104,775,801 (GRCm39) probably null Het
Cela3b T C 4: 137,149,219 (GRCm39) I262V probably benign Het
Chpf T C 1: 75,455,586 (GRCm39) N55S probably benign Het
Cmtm2b G T 8: 105,057,203 (GRCm39) E188* probably null Het
Cmya5 TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG 13: 93,233,512 (GRCm39) probably benign Het
Cxadr C T 16: 78,131,123 (GRCm39) T213M possibly damaging Het
D3Ertd751e T A 3: 41,703,096 (GRCm39) probably null Het
Dhx32 T C 7: 133,350,725 (GRCm39) Y115C probably benign Het
Dop1b C A 16: 93,546,848 (GRCm39) T284K possibly damaging Het
Dync2h1 A G 9: 7,129,802 (GRCm39) V1732A possibly damaging Het
Egf C T 3: 129,533,645 (GRCm39) R65Q probably damaging Het
Fat4 T G 3: 38,945,870 (GRCm39) S1588A probably damaging Het
Fmnl3 A G 15: 99,220,518 (GRCm39) V588A probably damaging Het
Galnt3 C T 2: 65,928,186 (GRCm39) E237K probably benign Het
Grik2 T C 10: 49,298,633 (GRCm39) I363V probably benign Het
Grik3 C T 4: 125,598,340 (GRCm39) T769I probably damaging Het
Hpd A T 5: 123,316,327 (GRCm39) D141E possibly damaging Het
Hrc A T 7: 44,985,692 (GRCm39) D281V probably damaging Het
Igfn1 A T 1: 135,891,693 (GRCm39) I2274K probably damaging Het
Iqgap3 A G 3: 88,005,677 (GRCm39) I502V probably benign Het
Kcnh8 A T 17: 53,266,493 (GRCm39) Q835L probably benign Het
Kmt2d C T 15: 98,748,649 (GRCm39) G2892R unknown Het
Lama4 T G 10: 38,906,486 (GRCm39) I284S probably benign Het
Madd C A 2: 90,992,886 (GRCm39) G1011V probably damaging Het
Mroh2b T C 15: 4,980,693 (GRCm39) F1421L probably damaging Het
Nadk G T 4: 155,661,524 (GRCm39) D17Y probably benign Het
Nedd9 C A 13: 41,470,431 (GRCm39) D241Y probably damaging Het
Notch2 T C 3: 98,007,552 (GRCm39) V434A probably benign Het
Ofcc1 C T 13: 40,433,781 (GRCm39) R108Q probably benign Het
Or10al2 T C 17: 37,983,708 (GRCm39) Y265H probably damaging Het
Or51g1 A G 7: 102,633,721 (GRCm39) F217L probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pramel41 T C 5: 94,594,902 (GRCm39) V254A probably benign Het
Prss55 A G 14: 64,313,132 (GRCm39) Y251H probably damaging Het
Rec8 T C 14: 55,862,760 (GRCm39) V573A possibly damaging Het
Ryr2 T C 13: 11,661,313 (GRCm39) probably null Het
Sec31b A G 19: 44,508,979 (GRCm39) S667P probably benign Het
Smim17 A G 7: 6,427,849 (GRCm39) D45G possibly damaging Het
Sspo A G 6: 48,464,263 (GRCm39) T3906A probably damaging Het
Tanc2 G T 11: 105,787,423 (GRCm39) G908W probably damaging Het
Tcf7l2 A T 19: 55,886,989 (GRCm39) M1L probably benign Het
Tpx2 C T 2: 152,735,514 (GRCm39) A714V probably damaging Het
Trgc4 T A 13: 19,533,740 (GRCm39) S121R Het
Trmt1 G A 8: 85,415,969 (GRCm39) R9H possibly damaging Het
Unc13a A T 8: 72,111,131 (GRCm39) V360E possibly damaging Het
Vmn1r225 T A 17: 20,722,589 (GRCm39) I10N probably damaging Het
Xkr4 A G 1: 3,740,842 (GRCm39) S244P possibly damaging Het
Zkscan14 G T 5: 145,132,708 (GRCm39) H274Q probably damaging Het
Other mutations in Chst8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02078:Chst8 APN 7 34,374,759 (GRCm39) missense possibly damaging 0.66
R0306:Chst8 UTSW 7 34,374,723 (GRCm39) missense probably benign
R1445:Chst8 UTSW 7 34,447,593 (GRCm39) missense possibly damaging 0.95
R1510:Chst8 UTSW 7 34,374,693 (GRCm39) missense probably benign 0.00
R2022:Chst8 UTSW 7 34,374,589 (GRCm39) missense possibly damaging 0.92
R2248:Chst8 UTSW 7 34,447,597 (GRCm39) missense probably damaging 0.98
R2262:Chst8 UTSW 7 34,375,435 (GRCm39) missense probably benign
R4463:Chst8 UTSW 7 34,374,645 (GRCm39) missense probably damaging 0.98
R4764:Chst8 UTSW 7 34,375,149 (GRCm39) missense probably damaging 0.98
R5379:Chst8 UTSW 7 34,375,279 (GRCm39) missense probably damaging 1.00
R5521:Chst8 UTSW 7 34,374,670 (GRCm39) missense probably benign
R5679:Chst8 UTSW 7 34,374,729 (GRCm39) missense probably damaging 1.00
R6412:Chst8 UTSW 7 34,375,504 (GRCm39) missense probably benign 0.03
R7247:Chst8 UTSW 7 34,375,361 (GRCm39) missense probably damaging 1.00
R7282:Chst8 UTSW 7 34,447,628 (GRCm39) critical splice acceptor site probably null
R8261:Chst8 UTSW 7 34,447,579 (GRCm39) missense possibly damaging 0.94
R9507:Chst8 UTSW 7 34,447,496 (GRCm39) nonsense probably null
R9600:Chst8 UTSW 7 34,374,646 (GRCm39) missense possibly damaging 0.66
Z1186:Chst8 UTSW 7 34,447,606 (GRCm39) missense probably damaging 0.98
Z1191:Chst8 UTSW 7 34,447,606 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGTGCCTGTCCTTGAACCTC -3'
(R):5'- ATAGTGCACCGCCTCAGTAC -3'

Sequencing Primer
(F):5'- TCCTTGAACCTCGGGAAAGTCAG -3'
(R):5'- CAAGATGCTCTTTGTCCGGGAAC -3'
Posted On 2020-09-15