Incidental Mutation 'R6318:St3gal6'
ID 510316
Institutional Source Beutler Lab
Gene Symbol St3gal6
Ensembl Gene ENSMUSG00000022747
Gene Name ST3 beta-galactoside alpha-2,3-sialyltransferase 6
Synonyms ST3Gal VI, 1700023B24Rik, Siat10
MMRRC Submission 044473-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # R6318 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 58290105-58344614 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58306769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 87 (I87T)
Ref Sequence ENSEMBL: ENSMUSP00000115756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114357] [ENSMUST00000114358] [ENSMUST00000126978] [ENSMUST00000137035] [ENSMUST00000149456]
AlphaFold Q8VIB3
Predicted Effect probably benign
Transcript: ENSMUST00000114357
AA Change: I87T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000109997
Gene: ENSMUSG00000022747
AA Change: I87T

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:Glyco_transf_29 63 329 6.2e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114358
AA Change: I87T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000109998
Gene: ENSMUSG00000022747
AA Change: I87T

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:Glyco_transf_29 71 329 7.1e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135721
Predicted Effect probably benign
Transcript: ENSMUST00000137035
AA Change: I87T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000115756
Gene: ENSMUSG00000022747
AA Change: I87T

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:Glyco_transf_29 63 329 6.2e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149197
Predicted Effect probably benign
Transcript: ENSMUST00000149456
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.3%
Validation Efficiency 99% (74/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the sialyltransferase family. Members of this family are enzymes that transfer sialic acid from the activated cytidine 5'-monophospho-N-acetylneuraminic acid to terminal positions on sialylated glycolipids (gangliosides) or to the N- or O-linked sugar chains of glycoproteins. This protein has high specificity for neolactotetraosylceramide and neolactohexaosylceramide as glycolipid substrates and may contribute to the formation of selectin ligands and sialyl Lewis X, a carbohydrate important for cell-to-cell recognition and a blood group antigen. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit modest impairment in leukocyte rolling and neutrophil recruitment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A G 9: 108,270,474 (GRCm39) T13A possibly damaging Het
Abcg4 T C 9: 44,186,645 (GRCm39) T500A probably benign Het
Adcy4 T A 14: 56,006,681 (GRCm39) I1051F probably damaging Het
Adgrg6 A T 10: 14,343,241 (GRCm39) N235K probably benign Het
Aldh3a2 A C 11: 61,153,245 (GRCm39) Y160* probably null Het
Arhgef4 G A 1: 34,762,558 (GRCm39) A605T unknown Het
Armt1 T C 10: 4,400,859 (GRCm39) M202T probably benign Het
Brd2 C A 17: 34,331,872 (GRCm39) V349F probably damaging Het
Btnl10 A T 11: 58,817,691 (GRCm39) probably benign Het
Ccdc178 A G 18: 22,253,591 (GRCm39) V216A possibly damaging Het
Ccdc85c A T 12: 108,240,968 (GRCm39) L142Q unknown Het
Cdc27 A T 11: 104,419,520 (GRCm39) S172T probably damaging Het
Ceacam14 T C 7: 17,548,237 (GRCm39) I109T probably damaging Het
Ces5a C T 8: 94,261,211 (GRCm39) G72E probably damaging Het
Cfb A G 17: 35,080,800 (GRCm39) Y66H possibly damaging Het
Clec14a G A 12: 58,315,001 (GRCm39) P207L probably damaging Het
Clec16a G A 16: 10,448,652 (GRCm39) R599H probably damaging Het
Csmd1 A T 8: 15,953,212 (GRCm39) I3423N probably damaging Het
Cyp4a29 C A 4: 115,107,396 (GRCm39) N243K probably benign Het
Ddx59 T C 1: 136,344,610 (GRCm39) F94L probably damaging Het
Dusp3 A C 11: 101,877,697 (GRCm39) V19G probably benign Het
Fat3 T C 9: 15,828,280 (GRCm39) probably benign Het
Fgfr4 T A 13: 55,313,921 (GRCm39) V545E probably damaging Het
Fxn G T 19: 24,257,790 (GRCm39) A47D probably damaging Het
Gdpgp1 A T 7: 79,888,898 (GRCm39) I310F possibly damaging Het
Gm7210 A T 7: 11,328,040 (GRCm39) noncoding transcript Het
Grm7 G T 6: 111,335,836 (GRCm39) C749F probably damaging Het
Hps4 T G 5: 112,494,495 (GRCm39) V26G probably damaging Het
Igf1r A G 7: 67,814,981 (GRCm39) D294G probably benign Het
Immp1l T C 2: 105,761,172 (GRCm39) F27S probably benign Het
Kcnk3 T A 5: 30,779,930 (GRCm39) C327S probably damaging Het
Kif13a T A 13: 46,968,683 (GRCm39) probably null Het
Krtap5-4 T C 7: 141,857,827 (GRCm39) S166P unknown Het
Lyst G A 13: 13,917,896 (GRCm39) D3319N possibly damaging Het
Malrd1 T G 2: 16,047,078 (GRCm39) S1735A unknown Het
Myh4 A G 11: 67,134,268 (GRCm39) T308A probably benign Het
Myh8 A T 11: 67,190,167 (GRCm39) Q1269L probably benign Het
Myo15b G A 11: 115,781,657 (GRCm39) V1367I probably damaging Het
Nae1 T C 8: 105,250,269 (GRCm39) D208G probably benign Het
Nelfe T A 17: 35,073,432 (GRCm39) V296D probably damaging Het
Nkapd1 T C 9: 50,518,761 (GRCm39) R284G probably benign Het
Npepps A T 11: 97,109,374 (GRCm39) V734E probably damaging Het
Ogdh A G 11: 6,299,390 (GRCm39) N752S probably damaging Het
Or11i1 T C 3: 106,729,503 (GRCm39) D124G probably damaging Het
Or3a1b A T 11: 74,012,547 (GRCm39) Q144L possibly damaging Het
Or5t9 A G 2: 86,659,998 (GRCm39) I301V possibly damaging Het
Or8b1 T C 9: 38,399,673 (GRCm39) M116T probably benign Het
Otof C A 5: 30,571,888 (GRCm39) G171V probably damaging Het
Phtf2 A T 5: 21,006,939 (GRCm39) V208D probably damaging Het
Pkn1 T A 8: 84,410,220 (GRCm39) T340S probably damaging Het
Plcd4 C T 1: 74,602,753 (GRCm39) L668F possibly damaging Het
Plch1 C T 3: 63,688,811 (GRCm39) W131* probably null Het
Prss50 A T 9: 110,690,367 (GRCm39) D170V probably damaging Het
Ptprg T C 14: 12,237,118 (GRCm38) V604A probably damaging Het
Rab33b T C 3: 51,400,826 (GRCm39) V100A probably damaging Het
Rbm26 T A 14: 105,368,971 (GRCm39) D736V probably damaging Het
Rela C A 19: 5,696,992 (GRCm39) P400T probably benign Het
Rpusd4 T C 9: 35,179,334 (GRCm39) L50P probably damaging Het
Scn10a A C 9: 119,456,181 (GRCm39) Y1214D probably damaging Het
Sema3c A G 5: 17,877,430 (GRCm39) E179G probably damaging Het
Skint5 T A 4: 113,374,330 (GRCm39) D1253V unknown Het
Sp4 G T 12: 118,201,913 (GRCm39) P771H probably damaging Het
Sphkap T A 1: 83,256,099 (GRCm39) Y263F probably damaging Het
Ssbp1 G A 6: 40,453,687 (GRCm39) V78I probably benign Het
Tango6 T A 8: 107,545,129 (GRCm39) D997E probably benign Het
Tpr C T 1: 150,321,639 (GRCm39) P2265S possibly damaging Het
Ttc7b A T 12: 100,291,936 (GRCm39) F212Y probably damaging Het
Ubc A G 5: 125,465,324 (GRCm39) M1T probably null Het
Vill G C 9: 118,892,716 (GRCm39) Q376H probably benign Het
Yes1 T C 5: 32,809,030 (GRCm39) I132T possibly damaging Het
Ythdc2 A G 18: 44,993,444 (GRCm39) T830A probably benign Het
Zbtb41 T A 1: 139,358,044 (GRCm39) F451I possibly damaging Het
Zfp995 C T 17: 22,099,493 (GRCm39) C247Y probably benign Het
Other mutations in St3gal6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01518:St3gal6 APN 16 58,305,138 (GRCm39) missense probably benign 0.31
IGL01583:St3gal6 APN 16 58,314,033 (GRCm39) unclassified probably benign
IGL02512:St3gal6 APN 16 58,293,822 (GRCm39) missense probably benign 0.00
R0212:St3gal6 UTSW 16 58,293,818 (GRCm39) missense probably damaging 1.00
R0212:St3gal6 UTSW 16 58,293,816 (GRCm39) missense probably damaging 0.96
R0441:St3gal6 UTSW 16 58,293,818 (GRCm39) missense probably damaging 1.00
R0441:St3gal6 UTSW 16 58,293,816 (GRCm39) missense probably damaging 0.96
R0442:St3gal6 UTSW 16 58,293,818 (GRCm39) missense probably damaging 1.00
R0442:St3gal6 UTSW 16 58,293,816 (GRCm39) missense probably damaging 0.96
R1786:St3gal6 UTSW 16 58,296,234 (GRCm39) missense probably damaging 1.00
R1939:St3gal6 UTSW 16 58,293,924 (GRCm39) splice site probably null
R2233:St3gal6 UTSW 16 58,293,897 (GRCm39) missense probably damaging 1.00
R2274:St3gal6 UTSW 16 58,309,332 (GRCm39) missense possibly damaging 0.46
R2336:St3gal6 UTSW 16 58,314,067 (GRCm39) missense probably damaging 1.00
R2434:St3gal6 UTSW 16 58,291,015 (GRCm39) missense probably damaging 1.00
R3789:St3gal6 UTSW 16 58,305,136 (GRCm39) missense probably benign 0.07
R7320:St3gal6 UTSW 16 58,314,074 (GRCm39) missense probably benign 0.00
R7599:St3gal6 UTSW 16 58,293,800 (GRCm39) missense probably benign 0.00
R8907:St3gal6 UTSW 16 58,314,095 (GRCm39) missense probably benign 0.00
R9100:St3gal6 UTSW 16 58,306,793 (GRCm39) missense
R9593:St3gal6 UTSW 16 58,305,136 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CACTACACTGCCTCTAAAAGAGTG -3'
(R):5'- CTATTTGCACAGCCCAAGCC -3'

Sequencing Primer
(F):5'- CACTGCCTCTAAAAGAGTGTTTTTG -3'
(R):5'- CCATTGGCGGCCATGAGTTTC -3'
Posted On 2018-04-02