Incidental Mutation 'R4564:St6gal2'
ID 343268
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 041789-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4564 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 55752383-55821582 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55789648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 227 (H227Q)
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: H227Q

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025000
Gene: ENSMUSG00000024172
AA Change: H227Q

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: H227Q

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000084091
Gene: ENSMUSG00000024172
AA Change: H227Q

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: H227Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120762
Gene: ENSMUSG00000024172
AA Change: H227Q

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 97% (58/60)
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
Atad3a C T 4: 155,831,766 (GRCm39) probably null Het
Bach2 T G 4: 32,563,338 (GRCm39) S602A probably damaging Het
Ccl19 G T 4: 42,756,295 (GRCm39) S12R probably damaging Het
Cfap54 T C 10: 92,675,402 (GRCm39) probably benign Het
Cndp1 T A 18: 84,640,411 (GRCm39) I265F probably damaging Het
Cnot3 G A 7: 3,656,257 (GRCm39) R181H probably damaging Het
Dicer1 T A 12: 104,671,010 (GRCm39) K1011* probably null Het
Dip2b G A 15: 100,055,139 (GRCm39) W99* probably null Het
Fpr-rs6 A T 17: 20,403,168 (GRCm39) Y64* probably null Het
Fubp1 C A 3: 151,928,573 (GRCm39) Y480* probably null Het
Gfra1 T C 19: 58,227,682 (GRCm39) probably null Het
Gm10770 T C 2: 150,020,831 (GRCm39) T229A probably benign Het
Gm826 A C 2: 160,153,913 (GRCm39) probably benign Het
Gpd2 G A 2: 57,197,095 (GRCm39) V217I possibly damaging Het
Hectd4 T C 5: 121,488,494 (GRCm39) I3595T probably benign Het
Lmln A G 16: 32,930,226 (GRCm39) E561G probably benign Het
Lrrc71 T A 3: 87,652,715 (GRCm39) probably benign Het
Man2a2 T A 7: 80,018,586 (GRCm39) Y91F probably benign Het
Map4k4 A G 1: 40,028,135 (GRCm39) T319A probably damaging Het
Mcm6 G T 1: 128,271,196 (GRCm39) H474Q probably damaging Het
Mn1 C G 5: 111,568,533 (GRCm39) N834K possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Niban3 T C 8: 72,057,704 (GRCm39) probably benign Het
Npas2 A G 1: 39,326,647 (GRCm39) D44G probably damaging Het
Npc1 C T 18: 12,324,789 (GRCm39) G1235R probably damaging Het
Olfml2a C T 2: 38,850,306 (GRCm39) T674I probably benign Het
Or4f58 A G 2: 111,852,112 (GRCm39) L29P possibly damaging Het
Pgap6 A G 17: 26,336,837 (GRCm39) R252G possibly damaging Het
Plxnb1 C T 9: 108,942,488 (GRCm39) A1779V probably benign Het
Ppil3 T A 1: 58,470,481 (GRCm39) D123V probably damaging Het
Prr23a3 A G 9: 98,747,190 (GRCm39) E48G probably damaging Het
Prr5l T C 2: 101,577,094 (GRCm39) E110G probably damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
R3hdm1 C T 1: 128,149,396 (GRCm39) T839M probably benign Het
Rasgrf2 G A 13: 92,033,773 (GRCm39) Q544* probably null Het
Riok3 C A 18: 12,281,936 (GRCm39) R302S probably damaging Het
Rnf145 A G 11: 44,439,635 (GRCm39) K144E probably benign Het
Sin3b A C 8: 73,480,209 (GRCm39) T904P probably damaging Het
Skint4 C T 4: 111,977,066 (GRCm39) T152M probably damaging Het
Slc22a2 A G 17: 12,828,943 (GRCm39) I350V probably benign Het
Slc6a11 G T 6: 114,108,323 (GRCm39) G29V probably benign Het
Speg A C 1: 75,368,478 (GRCm39) H676P probably damaging Het
Strn3 A G 12: 51,680,404 (GRCm39) S399P probably benign Het
Tbc1d1 A G 5: 64,330,827 (GRCm39) E2G probably damaging Het
Tecpr2 T A 12: 110,921,219 (GRCm39) M1264K probably benign Het
Trpm6 T C 19: 18,809,961 (GRCm39) L1119P possibly damaging Het
Upf2 A C 2: 6,032,123 (GRCm39) T890P unknown Het
Upk1b T A 16: 38,600,469 (GRCm39) K170N probably benign Het
Vmn1r78 A T 7: 11,886,485 (GRCm39) Y32F probably damaging Het
Vps11 A G 9: 44,272,894 (GRCm39) F12S probably damaging Het
Zfp318 T A 17: 46,723,741 (GRCm39) C1915S possibly damaging Het
Zfp346 A C 13: 55,261,520 (GRCm39) R103S probably 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
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'- ACATCATGGCGATCAGGACC -3'
(R):5'- CAGACATGACAACTGCGCAG -3'

Sequencing Primer
(F):5'- ATCATGGCGATCAGGACCTGTTC -3'
(R):5'- CGCAGCTGCTCAGACCG -3'
Posted On 2015-09-24