Incidental Mutation 'R5251:Hs3st6'
ID 399066
Institutional Source Beutler Lab
Gene Symbol Hs3st6
Ensembl Gene ENSMUSG00000039628
Gene Name heparan sulfate (glucosamine) 3-O-sulfotransferase 6
Synonyms
MMRRC Submission 042822-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.204) question?
Stock # R5251 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 24971962-24977658 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24976959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 146 (D146E)
Ref Sequence ENSEMBL: ENSMUSP00000040919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044922]
AlphaFold Q5GFD5
Predicted Effect probably benign
Transcript: ENSMUST00000044922
AA Change: D146E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040919
Gene: ENSMUSG00000039628
AA Change: D146E

DomainStartEndE-ValueType
Pfam:Sulfotransfer_3 23 270 9.3e-11 PFAM
Pfam:Sulfotransfer_1 90 336 2.9e-44 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1 A T 5: 36,108,236 (GRCm39) E194V probably damaging Het
Ankrd16 T A 2: 11,783,552 (GRCm39) D51E probably damaging Het
Arhgef5 A G 6: 43,249,815 (GRCm39) T189A possibly damaging Het
Camk4 A G 18: 33,317,932 (GRCm39) D363G probably benign Het
Camta1 A G 4: 151,248,341 (GRCm39) I199T probably damaging Het
Ccdc141 C T 2: 76,858,118 (GRCm39) C1021Y probably damaging Het
Cdc34 C T 10: 79,521,090 (GRCm39) S129L probably damaging Het
Cenph T A 13: 100,898,348 (GRCm39) N185I possibly damaging Het
Colq A G 14: 31,261,776 (GRCm39) probably null Het
Dph2 A T 4: 117,747,543 (GRCm39) D280E probably damaging Het
Exosc5 A G 7: 25,367,180 (GRCm39) Y224C probably damaging Het
Fgfr3 C T 5: 33,892,900 (GRCm39) probably benign Het
Igkv13-84 A T 6: 68,916,772 (GRCm39) Q23L probably benign Het
Macf1 A G 4: 123,343,760 (GRCm39) V2154A probably benign Het
Man1a2 T C 3: 100,527,415 (GRCm39) E225G probably damaging Het
Mertk T C 2: 128,571,375 (GRCm39) S110P probably damaging Het
Nav3 A G 10: 109,689,114 (GRCm39) F388L probably damaging Het
Nme8 T C 13: 19,844,795 (GRCm39) N98S probably benign Het
Nup205 A G 6: 35,173,417 (GRCm39) probably null Het
Prl7d1 T C 13: 27,893,227 (GRCm39) N228S probably benign Het
Prss23 T C 7: 89,159,530 (GRCm39) K180E probably damaging Het
Psap G A 10: 60,137,479 (GRCm39) D549N probably damaging Het
Sec16a A G 2: 26,329,357 (GRCm39) V886A probably benign Het
Sh2d1b2 A T 1: 170,077,642 (GRCm39) E81D probably benign Het
Tbx6 A T 7: 126,382,516 (GRCm39) N254I probably damaging Het
Tchhl1 T C 3: 93,377,860 (GRCm39) V188A possibly damaging Het
Trpc3 A T 3: 36,725,103 (GRCm39) L291Q probably damaging Het
Zbtb38 G T 9: 96,569,161 (GRCm39) T641N probably benign Het
Other mutations in Hs3st6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02516:Hs3st6 APN 17 24,977,105 (GRCm39) missense probably damaging 1.00
PIT4677001:Hs3st6 UTSW 17 24,977,285 (GRCm39) missense possibly damaging 0.94
R0352:Hs3st6 UTSW 17 24,977,168 (GRCm39) missense probably damaging 0.99
R0647:Hs3st6 UTSW 17 24,977,134 (GRCm39) missense probably damaging 0.98
R1263:Hs3st6 UTSW 17 24,977,504 (GRCm39) missense probably damaging 1.00
R1858:Hs3st6 UTSW 17 24,976,973 (GRCm39) missense possibly damaging 0.86
R1908:Hs3st6 UTSW 17 24,977,110 (GRCm39) missense possibly damaging 0.90
R1971:Hs3st6 UTSW 17 24,972,267 (GRCm39) missense probably benign
R4153:Hs3st6 UTSW 17 24,977,339 (GRCm39) missense possibly damaging 0.83
R5140:Hs3st6 UTSW 17 24,977,521 (GRCm39) missense probably benign 0.00
R6321:Hs3st6 UTSW 17 24,977,542 (GRCm39) missense probably damaging 1.00
R9499:Hs3st6 UTSW 17 24,977,228 (GRCm39) missense probably damaging 1.00
R9551:Hs3st6 UTSW 17 24,977,228 (GRCm39) missense probably damaging 1.00
R9552:Hs3st6 UTSW 17 24,977,228 (GRCm39) missense probably damaging 1.00
R9649:Hs3st6 UTSW 17 24,972,226 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- CTTTAGGAGGGTGAGCCTAAG -3'
(R):5'- CTGAGCATAGAGGCCAATGC -3'

Sequencing Primer
(F):5'- CTAAGAGAGGAGGAGGATAGCC -3'
(R):5'- ACAGCACTCCAGGCTGTGTC -3'
Posted On 2016-07-06