Incidental Mutation 'R6356:St6gal2'
ID 513040
Institutional Source Beutler Lab
Gene Symbol St6gal2
Ensembl Gene ENSMUSG00000024172
Gene Name beta galactoside alpha 2,6 sialyltransferase 2
Synonyms ST6Gal II, C230064G14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6356 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 55752383-55821582 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55789014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 16 (I16T)
Ref Sequence ENSEMBL: ENSMUSP00000120762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025000] [ENSMUST00000086878] [ENSMUST00000133899]
AlphaFold Q76K27
Predicted Effect probably damaging
Transcript: ENSMUST00000025000
AA Change: I16T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025000
Gene: ENSMUSG00000024172
AA Change: I16T

DomainStartEndE-ValueType
transmembrane domain 13 30 N/A INTRINSIC
low complexity region 230 241 N/A INTRINSIC
low complexity region 251 257 N/A INTRINSIC
Pfam:Glyco_transf_29 272 501 3.7e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000086878
AA Change: I16T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000084091
Gene: ENSMUSG00000024172
AA Change: I16T

DomainStartEndE-ValueType
transmembrane domain 13 30 N/A INTRINSIC
Pfam:Glyco_transf_29 234 438 9.1e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000133899
AA Change: I16T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120762
Gene: ENSMUSG00000024172
AA Change: I16T

DomainStartEndE-ValueType
transmembrane domain 13 30 N/A INTRINSIC
Pfam:Glyco_transf_29 207 316 5.1e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153220
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 91.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a sialyltransferase. The encoded type II transmembrane protein catalyzes the transfer of sialic acid from CMP to an oligosaccharide substrate. Polymorphisms at this locus may be associated with variations in risperidone response in schizophrenic patients. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,161,292 (GRCm39) S152T probably benign Het
Aass A G 6: 23,093,901 (GRCm39) V140A probably damaging Het
Add1 A G 5: 34,776,740 (GRCm39) N32S probably null Het
Agap2 T C 10: 126,918,865 (GRCm39) S414P unknown Het
Arhgef38 A G 3: 132,846,638 (GRCm39) F376L probably benign Het
Cd22 A T 7: 30,577,127 (GRCm39) I60N probably damaging Het
Cdh23 T A 10: 60,274,626 (GRCm39) D488V probably damaging Het
Cfap251 G A 5: 123,392,729 (GRCm39) probably benign Het
Cox16 T G 12: 81,519,115 (GRCm39) D148A probably damaging Het
Dclre1b G A 3: 103,715,471 (GRCm39) T9I probably damaging Het
Dennd4c T C 4: 86,743,686 (GRCm39) V1176A probably benign Het
Echdc1 A C 10: 29,220,522 (GRCm39) probably null Het
Efcab3 A G 11: 104,784,533 (GRCm39) K2772E probably benign Het
Efnb3 G A 11: 69,446,966 (GRCm39) A248V probably benign Het
Glud1 A G 14: 34,033,173 (GRCm39) R107G probably benign Het
Gtf2h4 A G 17: 35,980,647 (GRCm39) S279P probably damaging Het
Hectd1 A G 12: 51,791,402 (GRCm39) C2579R probably damaging Het
Igkv15-103 A G 6: 68,414,441 (GRCm39) probably benign Het
Ivl CCTGCTGCTGCTGCT CCTGCTGCTGCT 3: 92,479,217 (GRCm39) probably benign Het
Krtap5-2 T C 7: 141,729,119 (GRCm39) probably benign Het
Lcn11 G T 2: 25,668,132 (GRCm39) G97* probably null Het
Lrrtm3 G A 10: 63,765,943 (GRCm39) T548M probably benign Het
Map3k2 A T 18: 32,345,023 (GRCm39) T283S probably damaging Het
Mast4 T C 13: 102,872,493 (GRCm39) K2292E possibly damaging Het
Med23 G T 10: 24,764,311 (GRCm39) C98F probably damaging Het
Morc1 T A 16: 48,257,652 (GRCm39) F26Y probably damaging Het
Muc5ac T A 7: 141,366,416 (GRCm39) M2160K probably benign Het
Myocd T C 11: 65,109,396 (GRCm39) probably null Het
Nup160 T A 2: 90,542,279 (GRCm39) probably null Het
Obi1 A G 14: 104,716,313 (GRCm39) S687P probably damaging Het
Olr1 A T 6: 129,470,522 (GRCm39) L215Q probably benign Het
Or5ak23 T A 2: 85,245,031 (GRCm39) Q64L probably damaging Het
Or6c216 T A 10: 129,678,477 (GRCm39) S145C probably benign Het
Pik3c2a T C 7: 115,947,440 (GRCm39) K1414R possibly damaging Het
Ppfibp2 T C 7: 107,280,976 (GRCm39) V96A probably benign Het
Prim1 T A 10: 127,859,704 (GRCm39) Y299N probably damaging Het
Rsf1 T C 7: 97,311,141 (GRCm39) S624P probably benign Het
Samd4b A T 7: 28,101,018 (GRCm39) I687N probably damaging Het
Sbf2 A T 7: 109,971,830 (GRCm39) F801L probably damaging Het
Tiam2 CGGG CGGGG 17: 3,464,897 (GRCm39) probably null Het
Trim8 T G 19: 46,503,797 (GRCm39) S450A probably benign Het
Trp53bp2 A G 1: 182,276,562 (GRCm39) T848A probably benign Het
Vmn2r24 A G 6: 123,783,368 (GRCm39) S523G possibly damaging Het
Vmn2r52 T A 7: 9,902,926 (GRCm39) M501L probably benign Het
Vmn2r68 C T 7: 84,883,048 (GRCm39) V235M possibly damaging Het
Zfhx3 G A 8: 109,673,251 (GRCm39) V1434M probably damaging Het
Zmym5 A T 14: 57,031,622 (GRCm39) N495K possibly damaging Het
Other mutations in St6gal2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02689:St6gal2 APN 17 55,789,596 (GRCm39) missense probably damaging 1.00
R0496:St6gal2 UTSW 17 55,789,015 (GRCm39) missense probably damaging 0.96
R0652:St6gal2 UTSW 17 55,805,290 (GRCm39) missense probably benign
R1456:St6gal2 UTSW 17 55,797,932 (GRCm39) splice site probably benign
R1470:St6gal2 UTSW 17 55,797,944 (GRCm39) missense probably damaging 1.00
R1470:St6gal2 UTSW 17 55,797,944 (GRCm39) missense probably damaging 1.00
R1676:St6gal2 UTSW 17 55,803,396 (GRCm39) critical splice donor site probably null
R2092:St6gal2 UTSW 17 55,817,267 (GRCm39) missense probably damaging 1.00
R3120:St6gal2 UTSW 17 55,789,111 (GRCm39) missense probably benign 0.00
R3875:St6gal2 UTSW 17 55,789,698 (GRCm39) missense probably benign 0.02
R3928:St6gal2 UTSW 17 55,803,324 (GRCm39) missense possibly damaging 0.92
R3929:St6gal2 UTSW 17 55,803,324 (GRCm39) missense possibly damaging 0.92
R4512:St6gal2 UTSW 17 55,790,018 (GRCm39) missense probably benign 0.09
R4513:St6gal2 UTSW 17 55,790,018 (GRCm39) missense probably benign 0.09
R4514:St6gal2 UTSW 17 55,790,018 (GRCm39) missense probably benign 0.09
R4564:St6gal2 UTSW 17 55,789,648 (GRCm39) missense probably damaging 1.00
R4701:St6gal2 UTSW 17 55,803,345 (GRCm39) missense probably damaging 1.00
R4716:St6gal2 UTSW 17 55,817,367 (GRCm39) missense probably benign 0.01
R6034:St6gal2 UTSW 17 55,789,982 (GRCm39) missense probably benign
R6034:St6gal2 UTSW 17 55,789,982 (GRCm39) missense probably benign
R6455:St6gal2 UTSW 17 55,789,514 (GRCm39) missense probably benign 0.01
R8221:St6gal2 UTSW 17 55,797,935 (GRCm39) splice site probably null
Z1177:St6gal2 UTSW 17 55,789,898 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- TTTGATTAAATGCTGCCCCGG -3'
(R):5'- CAAGGGTGGAAAGGGTTCTC -3'

Sequencing Primer
(F):5'- GTGCTTTAGAACCCCAAG -3'
(R):5'- TTGCATCCAAACTTCTGGGCAAAG -3'
Posted On 2018-04-27