Incidental Mutation 'IGL02512:St3gal6'
ID 296609
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol St3gal6
Ensembl Gene ENSMUSG00000022747
Gene Name ST3 beta-galactoside alpha-2,3-sialyltransferase 6
Synonyms ST3Gal VI, 1700023B24Rik, Siat10
Accession Numbers
Essential gene? Probably non essential (E-score: 0.210) question?
Stock # IGL02512
Quality Score
Status
Chromosome 16
Chromosomal Location 58290105-58344614 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 58293822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 236 (E236K)
Ref Sequence ENSEMBL: ENSMUSP00000115756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046663] [ENSMUST00000114357] [ENSMUST00000114358] [ENSMUST00000137035]
AlphaFold Q8VIB3
Predicted Effect probably benign
Transcript: ENSMUST00000046663
SMART Domains Protein: ENSMUSP00000039915
Gene: ENSMUSG00000035107

DomainStartEndE-ValueType
low complexity region 2 34 N/A INTRINSIC
CUB 69 184 4.26e-37 SMART
LCCL 188 273 4.74e-37 SMART
FA58C 288 446 4.08e-28 SMART
transmembrane domain 522 544 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114357
AA Change: E236K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109997
Gene: ENSMUSG00000022747
AA Change: E236K

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: E236K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109998
Gene: ENSMUSG00000022747
AA Change: E236K

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:Glyco_transf_29 71 329 7.1e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137035
AA Change: E236K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000115756
Gene: ENSMUSG00000022747
AA Change: E236K

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
Coding Region Coverage
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 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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg10b C A 15: 90,111,752 (GRCm39) H199N probably benign Het
Ankrd13a T A 5: 114,924,827 (GRCm39) M104K probably benign Het
Ankrd37 A G 8: 46,452,325 (GRCm39) L48P probably damaging Het
Ankzf1 T A 1: 75,169,222 (GRCm39) L43M probably damaging Het
Ano10 A C 9: 122,101,540 (GRCm39) V77G possibly damaging Het
Arg2 G A 12: 79,194,517 (GRCm39) V114I probably benign Het
Asah1 A C 8: 41,813,344 (GRCm39) probably benign Het
Clpx A C 9: 65,217,533 (GRCm39) I34L probably benign Het
Cnga2 G A X: 71,052,531 (GRCm39) V469I probably damaging Het
Dock9 A T 14: 121,856,950 (GRCm39) probably benign Het
Eaf1 A G 14: 31,219,743 (GRCm39) T61A possibly damaging Het
Exoc3l T A 8: 106,017,115 (GRCm39) D624V probably damaging Het
Fancd2 A G 6: 113,547,904 (GRCm39) D927G probably damaging Het
Fbn1 A T 2: 125,180,380 (GRCm39) Y1801N probably damaging Het
Garnl3 A G 2: 32,921,150 (GRCm39) Y292H probably damaging Het
Gpr174 A T X: 106,336,577 (GRCm39) K130* probably null Het
Greb1 C T 12: 16,742,713 (GRCm39) V1379I possibly damaging Het
Grik2 A T 10: 49,232,008 (GRCm39) D507E probably benign Het
Gsn A T 2: 35,173,962 (GRCm39) K24* probably null Het
Ift80 A G 3: 68,835,058 (GRCm39) probably null Het
Inpp5j T A 11: 3,449,661 (GRCm39) Y707F probably damaging Het
Ints13 A T 6: 146,477,855 (GRCm39) D31E probably damaging Het
Kcnh1 T C 1: 192,187,689 (GRCm39) F717L possibly damaging Het
Klhdc8a T C 1: 132,230,895 (GRCm39) probably null Het
Klkb1 G A 8: 45,729,277 (GRCm39) probably benign Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Msh6 T C 17: 88,292,160 (GRCm39) V305A probably benign Het
Myo6 T A 9: 80,199,801 (GRCm39) probably null Het
Nampt T A 12: 32,880,268 (GRCm39) Y54N possibly damaging Het
Neurog2 G T 3: 127,427,504 (GRCm39) E43* probably null Het
Obscn C T 11: 58,919,343 (GRCm39) R6887H probably damaging Het
Or10ag58 A G 2: 87,265,402 (GRCm39) I190M possibly damaging Het
Or5ac25 T C 16: 59,182,171 (GRCm39) N137D possibly damaging Het
Or6c203 A G 10: 129,010,119 (GRCm39) I257T possibly damaging Het
Pdss1 A G 2: 22,802,658 (GRCm39) I166V probably damaging Het
Phaf1 G A 8: 105,961,110 (GRCm39) probably benign Het
Ptpn21 T C 12: 98,645,651 (GRCm39) T1096A probably benign Het
Reln A G 5: 22,245,425 (GRCm39) Y728H probably benign Het
Sec31a T C 5: 100,555,052 (GRCm39) D56G probably damaging Het
Shroom1 T A 11: 53,357,386 (GRCm39) V683E probably damaging Het
Slc5a11 A G 7: 122,864,478 (GRCm39) D358G probably damaging Het
Slfn3 T A 11: 83,103,851 (GRCm39) S241T possibly damaging Het
Slitrk3 G A 3: 72,957,735 (GRCm39) P346S probably benign Het
Specc1 T A 11: 62,009,215 (GRCm39) S324T probably damaging Het
Sptlc3 T C 2: 139,389,123 (GRCm39) Y168H probably damaging Het
Tet2 A T 3: 133,175,069 (GRCm39) M1426K probably benign Het
Tinag A T 9: 76,939,069 (GRCm39) probably benign Het
Tjp1 A G 7: 64,993,415 (GRCm39) S53P probably damaging Het
Uimc1 T C 13: 55,188,431 (GRCm39) T543A possibly damaging Het
Wdfy4 A G 14: 32,764,448 (GRCm39) W2147R probably benign Het
Zmym1 C T 4: 126,942,465 (GRCm39) C641Y probably damaging 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
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
R6318:St3gal6 UTSW 16 58,306,769 (GRCm39) missense probably benign 0.01
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
Posted On 2015-04-16