Incidental Mutation 'R6408:Hs6st3'
ID 514555
Institutional Source Beutler Lab
Gene Symbol Hs6st3
Ensembl Gene ENSMUSG00000053465
Gene Name heparan sulfate 6-O-sulfotransferase 3
Synonyms 6OST3
MMRRC Submission 044553-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.480) question?
Stock # R6408 (G1)
Quality Score 193.009
Status Validated
Chromosome 14
Chromosomal Location 119375753-120107227 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 119376046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 74 (P74T)
Ref Sequence ENSEMBL: ENSMUSP00000070394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065904]
AlphaFold Q9QYK4
Predicted Effect probably benign
Transcript: ENSMUST00000065904
AA Change: P74T

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000070394
Gene: ENSMUSG00000053465
AA Change: P74T

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 46 61 N/A INTRINSIC
low complexity region 67 84 N/A INTRINSIC
low complexity region 86 115 N/A INTRINSIC
Pfam:Sulfotransfer_2 137 410 4.7e-83 PFAM
low complexity region 425 447 N/A INTRINSIC
Meta Mutation Damage Score 0.0900 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.2%
Validation Efficiency 94% (45/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heparan sulfate (HS) sulfotransferases, such as HS6ST3, modify HS to generate structures required for interactions between HS and a variety of proteins. These interactions are implicated in proliferation and differentiation, adhesion, migration, inflammation, blood coagulation, and other diverse processes (Habuchi et al., 2000 [PubMed 10644753]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik T C 5: 107,691,858 (GRCm39) S50P probably damaging Het
4930407I10Rik T C 15: 81,949,307 (GRCm39) V1068A possibly damaging Het
Acss1 A G 2: 150,470,412 (GRCm39) probably null Het
Amer2 T C 14: 60,617,674 (GRCm39) I497T probably damaging Het
Azi2 A T 9: 117,890,550 (GRCm39) R51* probably null Het
Brdt A G 5: 107,533,358 (GRCm39) D946G probably damaging Het
Bzw2 C T 12: 36,157,524 (GRCm39) V314I possibly damaging Het
Capn13 A T 17: 73,672,954 (GRCm39) Y116* probably null Het
Clca4b A G 3: 144,625,036 (GRCm39) I485T probably benign Het
Crybg3 T A 16: 59,316,053 (GRCm39) T1130S possibly damaging Het
Cubn C T 2: 13,299,014 (GRCm39) V3220M probably damaging Het
Cyp4f16 T A 17: 32,770,173 (GRCm39) L514Q probably damaging Het
D7Ertd443e G T 7: 133,951,440 (GRCm39) Q31K probably benign Het
Dcaf15 T C 8: 84,831,355 (GRCm39) E8G probably benign Het
Ddx24 A C 12: 103,391,819 (GRCm39) probably benign Het
Diaph3 T C 14: 87,066,430 (GRCm39) M988V possibly damaging Het
Dlx4 A G 11: 95,036,078 (GRCm39) V77A probably benign Het
Dnah3 T C 7: 119,522,191 (GRCm39) probably null Het
Drc1 A G 5: 30,513,632 (GRCm39) E396G probably benign Het
Gab1 C A 8: 81,515,226 (GRCm39) R364L possibly damaging Het
Gbp2b T C 3: 142,323,899 (GRCm39) L568S probably benign Het
Gjb5 A T 4: 127,249,940 (GRCm39) F68Y probably benign Het
Kif26b T C 1: 178,745,133 (GRCm39) L1743P probably damaging Het
Lnx1 A T 5: 74,846,307 (GRCm39) C48S probably damaging Het
Lrfn2 A G 17: 49,377,654 (GRCm39) H245R probably damaging Het
Lrrc27 A G 7: 138,798,184 (GRCm39) E93G probably benign Het
Mettl6 T C 14: 31,201,683 (GRCm39) E253G probably damaging Het
Nmu A T 5: 76,491,818 (GRCm39) F106Y probably damaging Het
Pcsk7 T C 9: 45,820,994 (GRCm39) I142T probably benign Het
Polr3a A T 14: 24,536,939 (GRCm39) probably null Het
Psmb9 G T 17: 34,404,707 (GRCm39) A19E probably damaging Het
Pus7l A G 15: 94,429,456 (GRCm39) M454T probably benign Het
Raet1e A G 10: 22,056,645 (GRCm39) T74A probably benign Het
Ralb A C 1: 119,405,839 (GRCm39) Y43* probably null Het
Ralgapa1 C A 12: 55,730,695 (GRCm39) E1947* probably null Het
Rnf26rt A G 6: 76,473,441 (GRCm39) C392R probably damaging Het
Robo1 T C 16: 72,768,934 (GRCm39) Y500H probably benign Het
Shroom1 A C 11: 53,354,214 (GRCm39) T45P probably benign Het
Slit2 A G 5: 48,142,328 (GRCm39) probably benign Het
Spmip2 A G 3: 79,356,706 (GRCm39) R170G probably benign Het
Srgap3 T C 6: 112,699,967 (GRCm39) S1004G probably damaging Het
Taok2 A G 7: 126,470,164 (GRCm39) V888A probably benign Het
Tbc1d8 T A 1: 39,441,980 (GRCm39) D204V probably damaging Het
Thoc2l A G 5: 104,666,643 (GRCm39) I388M probably benign Het
Trav7d-4 C A 14: 53,007,624 (GRCm39) A39D probably damaging Het
Ush2a G T 1: 187,999,229 (GRCm39) E180* probably null Het
Vmn1r37 A G 6: 66,708,563 (GRCm39) D63G probably benign Het
Zfp282 G A 6: 47,857,319 (GRCm39) R184Q probably damaging Het
Other mutations in Hs6st3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Hs6st3 APN 14 119,376,446 (GRCm39) missense probably damaging 1.00
IGL00973:Hs6st3 APN 14 120,106,819 (GRCm39) missense possibly damaging 0.58
IGL02185:Hs6st3 APN 14 120,106,296 (GRCm39) critical splice acceptor site probably null
IGL02696:Hs6st3 APN 14 120,106,731 (GRCm39) missense probably damaging 0.98
IGL02820:Hs6st3 APN 14 119,376,492 (GRCm39) missense possibly damaging 0.95
R0241:Hs6st3 UTSW 14 119,376,232 (GRCm39) missense probably benign 0.32
R0241:Hs6st3 UTSW 14 119,376,232 (GRCm39) missense probably benign 0.32
R0634:Hs6st3 UTSW 14 120,106,474 (GRCm39) nonsense probably null
R0737:Hs6st3 UTSW 14 120,106,795 (GRCm39) missense possibly damaging 0.82
R0750:Hs6st3 UTSW 14 119,376,119 (GRCm39) small deletion probably benign
R1975:Hs6st3 UTSW 14 119,375,888 (GRCm39) missense probably benign 0.33
R1977:Hs6st3 UTSW 14 119,375,888 (GRCm39) missense probably benign 0.33
R2025:Hs6st3 UTSW 14 120,106,801 (GRCm39) missense probably damaging 1.00
R2116:Hs6st3 UTSW 14 120,106,699 (GRCm39) missense probably damaging 1.00
R2295:Hs6st3 UTSW 14 119,375,857 (GRCm39) missense probably benign 0.15
R3154:Hs6st3 UTSW 14 120,106,389 (GRCm39) missense probably damaging 0.99
R5700:Hs6st3 UTSW 14 119,376,199 (GRCm39) nonsense probably null
R5744:Hs6st3 UTSW 14 119,375,852 (GRCm39) missense possibly damaging 0.96
R5852:Hs6st3 UTSW 14 120,106,738 (GRCm39) missense probably damaging 1.00
R5861:Hs6st3 UTSW 14 119,376,265 (GRCm39) missense possibly damaging 0.89
R6262:Hs6st3 UTSW 14 119,376,403 (GRCm39) missense possibly damaging 0.95
R7140:Hs6st3 UTSW 14 119,376,514 (GRCm39) missense probably damaging 1.00
R7598:Hs6st3 UTSW 14 120,106,750 (GRCm39) missense probably damaging 1.00
R7954:Hs6st3 UTSW 14 120,106,522 (GRCm39) missense probably damaging 0.97
R8026:Hs6st3 UTSW 14 120,106,968 (GRCm39) missense probably damaging 0.99
R9471:Hs6st3 UTSW 14 119,376,235 (GRCm39) missense probably damaging 0.99
R9746:Hs6st3 UTSW 14 120,106,492 (GRCm39) missense probably damaging 1.00
R9773:Hs6st3 UTSW 14 120,106,948 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTCGTGGTCATCATGTACCAG -3'
(R):5'- GATGTGCAGGAACACGATCAC -3'

Sequencing Primer
(F):5'- ATGTACCAGTACGTGTCCCC -3'
(R):5'- CCCTTTGATGTTGAAGTCCACGAAG -3'
Posted On 2018-05-04