Incidental Mutation 'R4513:St6gal2'
ID 334543
Institutional Source Beutler Lab
Gene Symbol St6gal2
Ensembl Gene ENSMUSG00000024172
Gene Name beta galactoside alpha 2,6 sialyltransferase 2
Synonyms ST6Gal II, C230064G14Rik
MMRRC Submission 041759-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4513 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 55752383-55821582 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55790018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 351 (N351Y)
Ref Sequence ENSEMBL: ENSMUSP00000120762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025000] [ENSMUST00000086878] [ENSMUST00000133899]
AlphaFold Q76K27
Predicted Effect probably benign
Transcript: ENSMUST00000025000
SMART Domains Protein: ENSMUSP00000025000
Gene: ENSMUSG00000024172

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 benign
Transcript: ENSMUST00000086878
SMART Domains Protein: ENSMUSP00000084091
Gene: ENSMUSG00000024172

DomainStartEndE-ValueType
transmembrane domain 13 30 N/A INTRINSIC
Pfam:Glyco_transf_29 234 438 9.1e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133899
AA Change: N351Y

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000120762
Gene: ENSMUSG00000024172
AA Change: N351Y

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency 100% (56/56)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 A G 17: 57,717,947 (GRCm39) I320V probably benign Het
Akap6 T C 12: 52,842,787 (GRCm39) V45A probably benign Het
Ankrd28 A T 14: 31,465,242 (GRCm39) S312T probably damaging Het
Cenpn A G 8: 117,660,135 (GRCm39) Y68C probably damaging Het
Cfap96 G T 8: 46,421,175 (GRCm39) T116K probably damaging Het
Cntn3 A T 6: 102,145,943 (GRCm39) I966N probably benign Het
D630003M21Rik T C 2: 158,046,722 (GRCm39) T752A probably benign Het
Dmxl2 A C 9: 54,327,168 (GRCm39) S952R probably null Het
Dop1a G A 9: 86,402,612 (GRCm39) E1271K probably benign Het
Fgfr3 A G 5: 33,880,460 (GRCm39) probably benign Het
Gm10110 A G 14: 90,135,151 (GRCm39) noncoding transcript Het
Got1l1 C T 8: 27,688,513 (GRCm39) M279I probably benign Het
Guf1 T C 5: 69,719,005 (GRCm39) V230A probably benign Het
Hsd17b14 C T 7: 45,212,339 (GRCm39) L124F probably benign Het
Id3 G T 4: 135,871,669 (GRCm39) probably benign Het
Itga8 T C 2: 12,187,547 (GRCm39) S711G probably benign Het
Lgr4 T C 2: 109,842,361 (GRCm39) M782T possibly damaging Het
Lsm12 T C 11: 102,057,909 (GRCm39) probably null Het
Map1b T A 13: 99,580,741 (GRCm39) D117V probably damaging Het
Map3k11 A G 19: 5,752,238 (GRCm39) T807A probably damaging Het
Mapk14 T C 17: 28,943,798 (GRCm39) F129S probably damaging Het
Mapkbp1 T A 2: 119,854,174 (GRCm39) I1257N possibly damaging Het
Mcm3 A G 1: 20,880,456 (GRCm39) Y459H probably damaging Het
Mkln1 T C 6: 31,410,093 (GRCm39) probably benign Het
Msh5 A T 17: 35,249,664 (GRCm39) I627N possibly damaging Het
Nfkbiz T C 16: 55,637,204 (GRCm39) H488R probably benign Het
Nrg1 G T 8: 32,967,105 (GRCm39) probably benign Het
Or1j19 A G 2: 36,676,782 (GRCm39) M82V probably benign Het
Or51q1 T C 7: 103,628,648 (GRCm39) V89A probably benign Het
Or51t4 T C 7: 102,597,945 (GRCm39) L81P probably damaging Het
Or5b120 A T 19: 13,479,986 (GRCm39) Y93F probably benign Het
Plec C T 15: 76,070,418 (GRCm39) V931M probably damaging Het
Plekhg4 T A 8: 106,107,034 (GRCm39) C910S probably damaging Het
Ppp1r18 A G 17: 36,179,196 (GRCm39) E357G probably damaging Het
Pramel23 T C 4: 143,424,718 (GRCm39) M242V probably benign Het
Rbm11 T C 16: 75,393,475 (GRCm39) F57S probably damaging Het
Sbp G A 17: 24,164,286 (GRCm39) G183D probably benign Het
Skint5 A G 4: 113,599,382 (GRCm39) V719A unknown Het
Slc16a7 T G 10: 125,069,308 (GRCm39) probably null Het
Slc29a1 A C 17: 45,899,992 (GRCm39) Y232* probably null Het
Slc7a8 C G 14: 54,973,247 (GRCm39) G240A possibly damaging Het
Spanxn4 A T 12: 62,734,886 (GRCm39) noncoding transcript Het
Spata31d1d T C 13: 59,876,368 (GRCm39) Q389R probably benign Het
Srgap1 A G 10: 121,706,231 (GRCm39) probably null Het
Tle2 A G 10: 81,423,394 (GRCm39) D491G probably damaging Het
Tmem33 T C 5: 67,443,468 (GRCm39) V215A probably benign Het
Trav6-3 A G 14: 53,667,548 (GRCm39) T7A probably benign Het
Ube2q2 C A 9: 55,057,084 (GRCm39) P56T probably benign Het
Unc79 T C 12: 102,988,019 (GRCm39) V208A probably damaging Het
Xkr7 T C 2: 152,896,553 (GRCm39) I469T probably benign 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
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
R6356:St6gal2 UTSW 17 55,789,014 (GRCm39) missense probably damaging 1.00
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'- AGGTGTACCTCTGAGCCAGTTG -3'
(R):5'- GAACGGTTTTCAGTAGCAGC -3'

Sequencing Primer
(F):5'- CAGCTGCGCAGTTGTCATGTC -3'
(R):5'- GTTTTCAGTAGCAGCCAAGC -3'
Posted On 2015-08-18