Incidental Mutation 'R4463:Chst8'
ID 330223
Institutional Source Beutler Lab
Gene Symbol Chst8
Ensembl Gene ENSMUSG00000060402
Gene Name carbohydrate sulfotransferase 8
Synonyms 1500011J21Rik, GalNAc4ST-1
MMRRC Submission 041721-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4463 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 34373893-34512136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34374645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 398 (D398G)
Ref Sequence ENSEMBL: ENSMUSP00000145646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078686] [ENSMUST00000154629] [ENSMUST00000205259]
AlphaFold Q8BQ86
Predicted Effect probably damaging
Transcript: ENSMUST00000078686
AA Change: D398G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000077752
Gene: ENSMUSG00000060402
AA Change: D398G

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 damaging
Transcript: ENSMUST00000205259
AA Change: D398G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.4256 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (57/57)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,769,981 (GRCm39) probably benign Het
Abcc8 T C 7: 45,756,005 (GRCm39) probably null Het
Alox12e A G 11: 70,209,082 (GRCm39) L388P probably damaging Het
Aspm T A 1: 139,382,748 (GRCm39) S27T possibly damaging Het
Capn2 G A 1: 182,307,329 (GRCm39) probably benign Het
Catspere1 G A 1: 177,765,279 (GRCm39) noncoding transcript Het
Ccdc158 T C 5: 92,782,159 (GRCm39) D820G probably null Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Chd9 T A 8: 91,705,627 (GRCm39) D761E probably benign Het
Clns1a T C 7: 97,370,156 (GRCm39) probably benign Het
Cyp3a57 A T 5: 145,318,084 (GRCm39) Y355F probably damaging Het
Cyp4f37 A G 17: 32,846,710 (GRCm39) probably null Het
Eif1ad11 A G 12: 87,994,129 (GRCm39) D119G probably benign Het
Eipr1 G A 12: 28,909,338 (GRCm39) A202T probably damaging Het
Fam83a T C 15: 57,858,655 (GRCm39) S232P probably damaging Het
Fastkd2 C T 1: 63,774,968 (GRCm39) probably benign Het
Fcgbpl1 A G 7: 27,850,144 (GRCm39) M1197V probably benign Het
Fgfr4 G A 13: 55,304,280 (GRCm39) V107I probably benign Het
Gatad1 G T 5: 3,697,404 (GRCm39) S72R probably benign Het
Gli2 T C 1: 118,763,738 (GRCm39) D1471G probably damaging Het
Gm1330 A T 2: 148,845,064 (GRCm39) Y36* probably null Het
Gm29125 T C 1: 80,360,903 (GRCm39) noncoding transcript Het
Idi1 G A 13: 8,937,508 (GRCm39) probably benign Het
Itgbl1 C T 14: 124,078,080 (GRCm39) T190I probably damaging Het
Kbtbd3 G A 9: 4,331,257 (GRCm39) G544R probably damaging Het
Kifc3 T C 8: 95,828,744 (GRCm39) T638A probably damaging Het
Lama1 G A 17: 68,068,695 (GRCm39) C798Y probably damaging Het
Larp6 C A 9: 60,644,279 (GRCm39) H140N probably damaging Het
Mctp1 A T 13: 76,860,206 (GRCm39) D108V probably damaging Het
Myzap G T 9: 71,462,933 (GRCm39) D204E probably benign Het
Neb GCC GC 2: 52,169,734 (GRCm39) probably null Het
Or13p8 T C 4: 118,583,855 (GRCm39) V137A probably benign Het
Or1j20 T C 2: 36,760,205 (GRCm39) I209T probably benign Het
Or4c102 T C 2: 88,422,976 (GRCm39) V276A possibly damaging Het
Phka1 A G X: 101,588,990 (GRCm39) V818A probably benign Het
Plek T C 11: 16,931,873 (GRCm39) Y326C possibly damaging Het
Pp2d1 A G 17: 53,822,886 (GRCm39) I60T probably benign Het
Prmt3 T C 7: 49,467,837 (GRCm39) Y348H probably damaging Het
Psg27 G T 7: 18,291,010 (GRCm39) Q398K possibly damaging Het
Raver1 T C 9: 21,003,123 (GRCm39) T51A probably benign Het
Ripk2 T C 4: 16,151,968 (GRCm39) N197S possibly damaging Het
Sectm1a T A 11: 120,960,477 (GRCm39) I113L probably benign Het
Slc2a4 G A 11: 69,834,148 (GRCm39) probably benign Het
Snph A T 2: 151,436,035 (GRCm39) S229T probably damaging Het
Stpg4 A G 17: 87,697,101 (GRCm39) F183L probably benign Het
Tango6 A T 8: 107,415,706 (GRCm39) T176S probably benign Het
Vmn1r196 A G 13: 22,477,853 (GRCm39) Q164R probably benign Het
Vstm4 T A 14: 32,639,833 (GRCm39) L236Q probably damaging Het
Xylb A G 9: 119,215,433 (GRCm39) D462G probably benign Het
Zc2hc1c A G 12: 85,337,071 (GRCm39) R243G 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
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
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'- AGGGTCAAGGTCCATTGTCTG -3'
(R):5'- ACTTTGTGGGCAAGTTCGAGAG -3'

Sequencing Primer
(F):5'- TCTGTGGCCCACCCTAG -3'
(R):5'- TGGGCAAGTTCGAGAGCATGG -3'
Posted On 2015-07-21