Incidental Mutation 'R3875:St6gal2'
ID 276820
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 068967-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3875 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 55752383-55821582 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 55789698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 244 (P244Q)
Ref Sequence ENSEMBL: ENSMUSP00000120762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025000] [ENSMUST00000086878] [ENSMUST00000133899]
AlphaFold Q76K27
Predicted Effect probably benign
Transcript: ENSMUST00000025000
AA Change: P244Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000025000
Gene: ENSMUSG00000024172
AA Change: P244Q

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
AA Change: P244Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000084091
Gene: ENSMUSG00000024172
AA Change: P244Q

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: P244Q

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000120762
Gene: ENSMUSG00000024172
AA Change: P244Q

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: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 100% (50/50)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T C 2: 152,276,000 (GRCm39) S72P probably benign Het
Abca5 T A 11: 110,201,059 (GRCm39) Y447F probably damaging Het
Adgrg2 A G X: 159,261,992 (GRCm39) S337G probably benign Het
Akap12 G A 10: 4,307,590 (GRCm39) V1467I probably benign Het
Baz2a T A 10: 127,959,979 (GRCm39) M1419K probably damaging Het
Cacna1g G A 11: 94,328,749 (GRCm39) T1033I probably damaging Het
Car12 C A 9: 66,624,834 (GRCm39) probably benign Het
Cpne1 G A 2: 155,918,202 (GRCm39) H352Y probably damaging Het
D630039A03Rik T A 4: 57,910,606 (GRCm39) T69S probably benign Het
Dhodh T C 8: 110,321,592 (GRCm39) D310G probably null Het
Dnah2 A G 11: 69,320,174 (GRCm39) I3965T probably damaging Het
Drd5 T G 5: 38,477,157 (GRCm39) V50G possibly damaging Het
Dst C A 1: 34,210,328 (GRCm39) H934Q probably damaging Het
Eif1ad10 T C 12: 88,216,476 (GRCm39) D132G unknown Het
Far2 G A 6: 148,052,089 (GRCm39) E123K probably benign Het
Fbxo43 A T 15: 36,162,249 (GRCm39) F319L probably benign Het
Flii T C 11: 60,611,318 (GRCm39) S418G probably benign Het
Glyctk T A 9: 106,034,820 (GRCm39) Y82F probably damaging Het
Gm11353 G T 13: 26,676,651 (GRCm39) noncoding transcript Het
Gm6505 T A 3: 28,819,286 (GRCm39) noncoding transcript Het
Gpr151 A G 18: 42,711,661 (GRCm39) V339A probably benign Het
H2-T22 T C 17: 36,351,195 (GRCm39) I296V probably benign Het
Igfn1 T C 1: 135,882,352 (GRCm39) N2831S probably damaging Het
Igkv13-85 A G 6: 68,907,484 (GRCm39) V39A probably damaging Het
Irx5 A G 8: 93,086,793 (GRCm39) T242A probably benign Het
Krt26 T C 11: 99,225,570 (GRCm39) K304E probably damaging Het
Mcoln1 A G 8: 3,558,355 (GRCm39) D203G probably benign Het
Mlph T C 1: 90,855,844 (GRCm39) C57R probably damaging Het
Myh13 C A 11: 67,249,020 (GRCm39) H1275Q probably benign Het
Nbeal1 T A 1: 60,233,758 (GRCm39) probably benign Het
Orc5 T A 5: 22,742,564 (GRCm39) M115L probably benign Het
Pcdha6 T A 18: 37,101,119 (GRCm39) I104N probably damaging Het
Plcb4 T C 2: 135,844,552 (GRCm39) S157P probably damaging Het
Polq A G 16: 36,894,389 (GRCm39) D1787G probably damaging Het
Prkar2b T G 12: 32,015,122 (GRCm39) I142L probably benign Het
Ptprq A G 10: 107,520,965 (GRCm39) S736P possibly damaging Het
Qrich2 A T 11: 116,336,477 (GRCm39) V2046D probably damaging Het
Rad21 A T 15: 51,833,361 (GRCm39) F373I probably damaging Het
Rcvrn A G 11: 67,590,880 (GRCm39) I155V probably benign Het
Rsrc2 C T 5: 123,874,691 (GRCm39) probably benign Het
Sgsh A G 11: 119,241,773 (GRCm39) L111P probably damaging Het
Ssc5d A T 7: 4,930,261 (GRCm39) D114V probably damaging Het
Tarbp1 A G 8: 127,165,538 (GRCm39) probably benign Het
Tmem221 T C 8: 72,008,399 (GRCm39) probably null Het
Trh A T 6: 92,220,679 (GRCm39) V61E possibly damaging Het
Trim32 A T 4: 65,531,703 (GRCm39) I87F possibly damaging Het
Tti2 A G 8: 31,641,175 (GRCm39) K100E probably benign Het
Usp34 C T 11: 23,439,033 (GRCm39) P3532S possibly damaging Het
Vps13d A G 4: 144,917,114 (GRCm39) Y17H probably damaging Het
Zfp106 T C 2: 120,365,094 (GRCm39) K438E probably benign Het
Zfp60 T C 7: 27,449,006 (GRCm39) I558T probably damaging Het
Zzef1 A C 11: 72,779,866 (GRCm39) I1880L 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
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
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'- AAGCCTATGACAGCGACATGC -3'
(R):5'- TCAGAGAGCTCAGAAAACACTG -3'

Sequencing Primer
(F):5'- GACATGCTGTCAGCCTCCATG -3'
(R):5'- TCCCCCAAGGAGGAGTTCAG -3'
Posted On 2015-04-06