Incidental Mutation 'R7247:Chst8'
ID 563609
Institutional Source Beutler Lab
Gene Symbol Chst8
Ensembl Gene ENSMUSG00000060402
Gene Name carbohydrate sulfotransferase 8
Synonyms 1500011J21Rik, GalNAc4ST-1
MMRRC Submission 045310-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7247 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 34373893-34512136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34375361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 159 (K159N)
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: K159N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077752
Gene: ENSMUSG00000060402
AA Change: K159N

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: K159N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,240,732 (GRCm39) E865G probably benign Het
Actrt2 A C 4: 154,751,880 (GRCm39) D85E probably benign Het
Ankrd55 A G 13: 112,472,787 (GRCm39) E153G probably damaging Het
Arfgef3 T A 10: 18,501,139 (GRCm39) H1037L probably benign Het
Camk2a A G 18: 61,076,277 (GRCm39) Y85C unknown Het
Caprin1 A T 2: 103,609,819 (GRCm39) V153E possibly damaging Het
Caskin2 G A 11: 115,692,722 (GRCm39) P688S probably benign Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,228,053 (GRCm39) probably benign Het
Ccdc116 T C 16: 16,957,555 (GRCm39) T535A possibly damaging Het
Cdh9 G A 15: 16,778,341 (GRCm39) R52H probably damaging Het
Cdk5rap2 A G 4: 70,255,666 (GRCm39) L406S probably damaging Het
Cep350 A G 1: 155,786,499 (GRCm39) M1449T probably damaging Het
Dcdc2a A G 13: 25,286,374 (GRCm39) H136R probably benign Het
Dip2a C T 10: 76,108,366 (GRCm39) probably null Het
Dock2 G A 11: 34,605,340 (GRCm39) R260* probably null Het
Dscam A G 16: 96,622,008 (GRCm39) V481A probably damaging Het
E130308A19Rik A G 4: 59,690,502 (GRCm39) D112G probably damaging Het
Ezh2 T C 6: 47,510,708 (GRCm39) K634E probably damaging Het
Fcgr2b A G 1: 170,793,269 (GRCm39) probably null Het
Fgfrl1 T C 5: 108,851,365 (GRCm39) V94A possibly damaging Het
Gpr156 C A 16: 37,768,103 (GRCm39) N6K probably damaging Het
Gsdmc2 A T 15: 63,705,183 (GRCm39) F177I probably benign Het
Igkv4-54 T A 6: 69,608,842 (GRCm39) S26C probably damaging Het
Iglc3 T C 16: 18,884,191 (GRCm39) H80R Het
Immp1l G A 2: 105,767,401 (GRCm39) G87S probably damaging Het
Itgav A T 2: 83,555,179 (GRCm39) D34V probably damaging Het
Lrp1b G A 2: 41,159,224 (GRCm39) T1686I Het
Ltn1 T C 16: 87,206,275 (GRCm39) D935G probably benign Het
Map3k8 T C 18: 4,334,036 (GRCm39) D352G probably damaging Het
Map3k9 T C 12: 81,772,604 (GRCm39) K610E possibly damaging Het
Marchf4 G T 1: 72,491,637 (GRCm39) Y211* probably null Het
Marf1 A T 16: 13,944,957 (GRCm39) L1304Q probably damaging Het
Matcap1 A T 8: 106,011,331 (GRCm39) Y268N probably benign Het
Mecom A G 3: 30,194,505 (GRCm39) V5A unknown Het
Mep1a A T 17: 43,785,995 (GRCm39) V711D possibly damaging Het
Naca T A 10: 127,878,467 (GRCm39) D1166E unknown Het
Neb G T 2: 52,148,753 (GRCm39) P2598Q probably damaging Het
Notch4 A T 17: 34,791,491 (GRCm39) E546V probably damaging Het
Nudt18 A G 14: 70,815,422 (GRCm39) T12A unknown Het
Nvl A C 1: 180,939,851 (GRCm39) probably null Het
Obscn G T 11: 58,994,144 (GRCm39) C1579* probably null Het
Or4b13 G A 2: 90,083,165 (GRCm39) P56S probably damaging Het
Or51e2 T C 7: 102,391,551 (GRCm39) I220V probably damaging Het
Or6c5b T C 10: 129,246,051 (GRCm39) V272A probably damaging Het
Or7g33 A T 9: 19,448,629 (GRCm39) I199K probably benign Het
Or8g19 T A 9: 39,056,153 (GRCm39) Y252* probably null Het
Oxa1l A T 14: 54,598,312 (GRCm39) M1L probably benign Het
Paqr9 A G 9: 95,442,246 (GRCm39) T79A possibly damaging Het
Plec A T 15: 76,061,543 (GRCm39) V2798E probably damaging Het
Potefam3f A G 8: 20,479,022 (GRCm39) N10S Het
Ptpn4 A T 1: 119,617,764 (GRCm39) *557R probably null Het
Ptprt T C 2: 161,375,443 (GRCm39) E1379G probably benign Het
Rad18 G T 6: 112,642,286 (GRCm39) T327K possibly damaging Het
Rps2 T A 17: 24,939,554 (GRCm39) I75N possibly damaging Het
Scgb2b2 A T 7: 31,003,021 (GRCm39) R39W probably damaging Het
Sh3d21 A G 4: 126,045,908 (GRCm39) F307S probably benign Het
Snap91 A G 9: 86,674,669 (GRCm39) V507A unknown Het
Srgap1 T A 10: 121,705,695 (GRCm39) Y243F probably damaging Het
Stim1 T A 7: 102,070,739 (GRCm39) probably null Het
Top2b T C 14: 16,416,962 (GRCm38) V1161A probably benign Het
Tpcn1 T C 5: 120,723,315 (GRCm39) D16G possibly damaging Het
Trank1 A T 9: 111,196,580 (GRCm39) I1535F probably damaging Het
Txnrd2 T C 16: 18,274,822 (GRCm39) F278L probably damaging Het
Ufl1 A T 4: 25,254,637 (GRCm39) D579E probably damaging Het
Vps45 T C 3: 95,948,717 (GRCm39) N346S probably benign Het
Vps51 T A 19: 6,127,419 (GRCm39) probably benign Het
Zfp536 T C 7: 37,268,631 (GRCm39) N262D probably benign Het
Zmynd10 A G 9: 107,425,976 (GRCm39) I103M possibly damaging Het
Zswim1 C T 2: 164,667,719 (GRCm39) H324Y possibly damaging Het
Zxdc T C 6: 90,361,155 (GRCm39) W507R unknown 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
R7282:Chst8 UTSW 7 34,447,628 (GRCm39) critical splice acceptor site probably null
R7952:Chst8 UTSW 7 34,374,919 (GRCm39) missense probably damaging 1.00
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'- GATATCTGCCGTGGATGAGG -3'
(R):5'- AAGGGCACACGAGATTCACC -3'

Sequencing Primer
(F):5'- TGGATGAGGCTAACCCTGC -3'
(R):5'- AAGGCAGCGGGATCTCCTTTG -3'
Posted On 2019-06-26