Incidental Mutation 'R9600:Chst8'
ID 723672
Institutional Source Beutler Lab
Gene Symbol Chst8
Ensembl Gene ENSMUSG00000060402
Gene Name carbohydrate sulfotransferase 8
Synonyms 1500011J21Rik, GalNAc4ST-1
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9600 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 34373893-34512136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34374646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 398 (D398N)
Ref Sequence ENSEMBL: ENSMUSP00000077752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078686] [ENSMUST00000154629] [ENSMUST00000205259]
AlphaFold Q8BQ86
Predicted Effect possibly damaging
Transcript: ENSMUST00000078686
AA Change: D398N

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000077752
Gene: ENSMUSG00000060402
AA Change: D398N

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 possibly damaging
Transcript: ENSMUST00000205259
AA Change: D398N

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik A G 11: 80,261,197 (GRCm39) V210A probably damaging Het
Abcc9 G A 6: 142,536,102 (GRCm39) A1544V possibly damaging Het
Akap6 A G 12: 52,933,341 (GRCm39) T278A probably benign Het
Arfgef1 T A 1: 10,233,977 (GRCm39) I1106F probably benign Het
Armc7 T C 11: 115,367,038 (GRCm39) L61S probably damaging Het
Atp1a3 G A 7: 24,700,027 (GRCm39) T111M probably benign Het
Bltp1 A T 3: 37,095,565 (GRCm39) K1103* probably null Het
Cacna2d4 T A 6: 119,322,023 (GRCm39) S962R probably benign Het
Camsap2 T C 1: 136,204,936 (GRCm39) T526A Het
Casq2 A T 3: 102,052,622 (GRCm39) D378V unknown Het
Cmya5 C T 13: 93,226,604 (GRCm39) G2828D probably damaging Het
Cntnap2 T A 6: 45,969,009 (GRCm39) N250K probably damaging Het
Cpne5 T C 17: 29,380,520 (GRCm39) N401D probably damaging Het
Cse1l A G 2: 166,757,119 (GRCm39) N7S probably damaging Het
Cyp4f39 G A 17: 32,705,920 (GRCm39) G337D probably damaging Het
Dera C T 6: 137,814,135 (GRCm39) R308C probably benign Het
Drd5 T A 5: 38,478,174 (GRCm39) I389N possibly damaging Het
F830016B08Rik A G 18: 60,433,237 (GRCm39) T107A probably damaging Het
Fbxw22 C A 9: 109,212,986 (GRCm39) L320F probably damaging Het
Fndc3b G T 3: 27,552,941 (GRCm39) T352K probably damaging Het
Gm36864 T A 7: 43,886,275 (GRCm39) I169K unknown Het
Hdac4 A T 1: 91,889,277 (GRCm39) D749E probably damaging Het
Herc1 C T 9: 66,304,594 (GRCm39) A805V possibly damaging Het
Hrh1 A G 6: 114,457,453 (GRCm39) K245E probably benign Het
Khdc1a A G 1: 21,421,204 (GRCm39) T130A probably benign Het
Lrp5 C G 19: 3,641,712 (GRCm39) A1417P probably benign Het
Macf1 T C 4: 123,365,002 (GRCm39) Q3253R possibly damaging Het
Mdn1 T A 4: 32,684,723 (GRCm39) L811* probably null Het
Mettl8 T C 2: 70,812,383 (GRCm39) D84G possibly damaging Het
Miga1 T G 3: 151,993,186 (GRCm39) T412P probably benign Het
Mtor G T 4: 148,632,092 (GRCm39) R2322L possibly damaging Het
Muc16 T C 9: 18,567,147 (GRCm39) N1791D unknown Het
Myo9b C G 8: 71,743,075 (GRCm39) S45R possibly damaging Het
Nup50l A T 6: 96,142,156 (GRCm39) L296Q possibly damaging Het
Olfm4 T C 14: 80,243,747 (GRCm39) F105S probably damaging Het
Or5af2 A T 11: 58,708,370 (GRCm39) I179F possibly damaging Het
Osbpl1a T C 18: 13,015,277 (GRCm39) I384V probably benign Het
Pcnx1 T C 12: 82,030,435 (GRCm39) L1131P Het
Pex6 T A 17: 47,035,322 (GRCm39) V827E probably damaging Het
Plek A C 11: 16,940,119 (GRCm39) S197A probably benign Het
Pmpca T C 2: 26,282,598 (GRCm39) Y269H probably benign Het
Pop1 T C 15: 34,512,881 (GRCm39) I493T probably benign Het
Rap1gap2 T C 11: 74,283,954 (GRCm39) N615D probably benign Het
Rtp3 T C 9: 110,815,198 (GRCm39) Y389C unknown Het
Rusf1 T A 7: 127,875,676 (GRCm39) D253V possibly damaging Het
Sardh T C 2: 27,120,513 (GRCm39) Q423R probably benign Het
Slc11a1 T C 1: 74,422,688 (GRCm39) probably null Het
Slc5a4b T C 10: 75,896,239 (GRCm39) D572G probably damaging Het
Slco1a8 T G 6: 141,949,234 (GRCm39) probably null Het
Slfn14 A G 11: 83,170,048 (GRCm39) V532A probably benign Het
Spmip10 T C 18: 56,725,450 (GRCm39) W37R probably benign Het
Stxbp1 T C 2: 32,701,120 (GRCm39) Y264C possibly damaging Het
Syce1l T C 8: 114,381,750 (GRCm39) I230T unknown Het
Taf5l T C 8: 124,730,173 (GRCm39) Y172C Het
Trpc4 A T 3: 54,102,248 (GRCm39) K49* probably null Het
Ttc13 A G 8: 125,415,284 (GRCm39) V285A probably benign Het
Ttc17 A T 2: 94,204,890 (GRCm39) L344Q probably damaging Het
Unc79 A G 12: 103,135,972 (GRCm39) H2469R probably benign Het
Xkr7 A G 2: 152,896,393 (GRCm39) I416V probably benign Het
Zeb2 C A 2: 44,987,180 (GRCm39) D35Y unknown Het
Zfp28 A G 7: 6,397,917 (GRCm39) H784R probably benign Het
Zfp644 A C 5: 106,783,909 (GRCm39) S848R probably benign Het
Zfp809 G A 9: 22,150,384 (GRCm39) E294K possibly damaging Het
Zfp820 A G 17: 22,038,861 (GRCm39) Y156H probably benign 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
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
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'- GTCAAGGTCCATTGTCTGGG -3'
(R):5'- CGACTATGACTTTGTGGGCAAG -3'

Sequencing Primer
(F):5'- TCTGTGGCCCACCCTAG -3'
(R):5'- TGTGGGCAAGTTCGAGAGC -3'
Posted On 2022-09-12