Incidental Mutation 'R5521:Chst8'
ID 431545
Institutional Source Beutler Lab
Gene Symbol Chst8
Ensembl Gene ENSMUSG00000060402
Gene Name carbohydrate sulfotransferase 8
Synonyms 1500011J21Rik, GalNAc4ST-1
MMRRC Submission 043080-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5521 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 34373893-34512136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 34374670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 390 (S390A)
Ref Sequence ENSEMBL: ENSMUSP00000145646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078686] [ENSMUST00000154629] [ENSMUST00000205259]
AlphaFold Q8BQ86
Predicted Effect probably benign
Transcript: ENSMUST00000078686
AA Change: S390A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000077752
Gene: ENSMUSG00000060402
AA Change: S390A

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 noncoding transcript
Transcript: ENSMUST00000126294
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135295
Predicted Effect probably benign
Transcript: ENSMUST00000154629
SMART Domains Protein: ENSMUSP00000123498
Gene: ENSMUSG00000060402

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205259
AA Change: S390A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.5%
  • 10x: 94.4%
  • 20x: 87.5%
Validation Efficiency 94% (72/77)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A G 9: 44,190,980 (GRCm39) probably benign Het
Abhd14a G T 9: 106,321,033 (GRCm39) D107E probably damaging Het
Acat1 T A 9: 53,494,807 (GRCm39) K362* probably null Het
Adad2 T A 8: 120,339,528 (GRCm39) S3R probably benign Het
Adcy8 C A 15: 64,687,199 (GRCm39) R435M probably damaging Het
Adgrv1 A T 13: 81,567,508 (GRCm39) S5222T probably benign Het
Ankk1 A T 9: 49,331,748 (GRCm39) M182K probably benign Het
Apba1 C T 19: 23,870,957 (GRCm39) P263L probably damaging Het
Arhgap39 G A 15: 76,649,694 (GRCm39) S26L possibly damaging Het
Ccng1 G A 11: 40,643,093 (GRCm39) T118I possibly damaging Het
Cenpe T C 3: 134,974,826 (GRCm39) S2329P probably damaging Het
Chil4 A G 3: 106,111,013 (GRCm39) Y294H possibly damaging Het
Dars1 T C 1: 128,301,710 (GRCm39) D308G probably benign Het
Dlec1 A C 9: 118,972,469 (GRCm39) Q1458P possibly damaging Het
Dvl2 G A 11: 69,897,233 (GRCm39) E312K probably damaging Het
Fchsd1 T C 18: 38,099,537 (GRCm39) H219R probably damaging Het
Foxd4 A C 19: 24,877,007 (GRCm39) C398G probably damaging Het
Gm10719 T A 9: 3,018,970 (GRCm39) F72I probably damaging Het
Gm5414 T C 15: 101,536,422 (GRCm39) I68V probably benign Het
Gmip C T 8: 70,270,049 (GRCm39) T684I probably damaging Het
Gpr137c T C 14: 45,516,151 (GRCm39) I295T possibly damaging Het
Hivep1 T A 13: 42,311,804 (GRCm39) M1348K probably damaging Het
Igkv6-23 T C 6: 70,237,597 (GRCm39) D48G probably benign Het
Il3 G A 11: 54,157,958 (GRCm39) T40M possibly damaging Het
Ing2 T C 8: 48,122,248 (GRCm39) E100G probably damaging Het
Itpr3 C A 17: 27,326,308 (GRCm39) H1359Q probably benign Het
Lama1 T A 17: 68,087,889 (GRCm39) Y1502* probably null Het
Mamdc2 C A 19: 23,288,302 (GRCm39) G579W probably damaging Het
Mapk6 G A 9: 75,300,598 (GRCm39) probably benign Het
Mapk8ip2 C T 15: 89,343,007 (GRCm39) R616W probably damaging Het
Mc5r T A 18: 68,472,748 (GRCm39) L369H possibly damaging Het
Meis1 T C 11: 18,938,260 (GRCm39) probably benign Het
Mmp8 A G 9: 7,560,644 (GRCm39) K107R probably benign Het
Mn1 C T 5: 111,569,635 (GRCm39) H1202Y possibly damaging Het
Naip2 A G 13: 100,291,422 (GRCm39) L1172P probably damaging Het
Nek9 C T 12: 85,374,219 (GRCm39) D273N probably benign Het
Nlrp4e A T 7: 23,021,190 (GRCm39) D559V probably benign Het
Nlrp4g T C 9: 124,350,020 (GRCm38) noncoding transcript Het
Oit3 G T 10: 59,271,736 (GRCm39) A207E probably benign Het
Or13j1 A T 4: 43,705,788 (GRCm39) M260K possibly damaging Het
Or14a257 A T 7: 86,137,839 (GRCm39) C307S probably benign Het
Or4d2b A T 11: 87,780,545 (GRCm39) M59K probably damaging Het
Or5w16 A G 2: 87,577,406 (GRCm39) I289V probably benign Het
Pde4c T C 8: 71,200,031 (GRCm39) probably null Het
Ppp1r26 A G 2: 28,341,438 (GRCm39) E356G probably benign Het
Pramel13 A G 4: 144,122,541 (GRCm39) M1T probably null Het
Ptges3-ps T A 6: 85,821,303 (GRCm39) noncoding transcript Het
Ptpn13 T G 5: 103,649,294 (GRCm39) F232L probably benign Het
Reps1 T C 10: 17,979,982 (GRCm39) S114P probably damaging Het
Scarf2 T A 16: 17,621,466 (GRCm39) probably null Het
Sdha A T 13: 74,498,218 (GRCm39) probably benign Het
Secisbp2l A T 2: 125,594,897 (GRCm39) V146D possibly damaging Het
Slc26a8 T A 17: 28,873,833 (GRCm39) T385S probably benign Het
Slc4a1 G A 11: 102,244,092 (GRCm39) T679M probably benign Het
Tbc1d14 T A 5: 36,677,896 (GRCm39) E353V probably damaging Het
Thap2 T A 10: 115,208,665 (GRCm39) K152* probably null Het
Thbd A T 2: 148,249,655 (GRCm39) I71N probably damaging Het
V1ra8 T A 6: 90,180,036 (GRCm39) W80R probably damaging Het
Vmn1r218 A G 13: 23,320,743 (GRCm39) Y30C probably benign Het
Vmn2r60 C A 7: 41,845,049 (GRCm39) T804K probably damaging Het
Vmn2r68 A T 7: 84,882,926 (GRCm39) D275E probably benign Het
Vps13c A G 9: 67,858,721 (GRCm39) I2724V probably benign Het
Xrcc5 C A 1: 72,385,430 (GRCm39) P507Q probably damaging Het
Zfp120 A T 2: 149,959,499 (GRCm39) Y274* probably null Het
Zfp780b C A 7: 27,674,173 (GRCm39) probably null 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
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
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'- GGGTCAAGGTCCATTGTCTG -3'
(R):5'- ATCGACTATGACTTTGTGGGC -3'

Sequencing Primer
(F):5'- GGCCTCACATCCTCAGAGCTC -3'
(R):5'- CGACTATGACTTTGTGGGCAAGTTC -3'
Posted On 2016-10-05