Incidental Mutation 'IGL02736:St6galnac6'
ID305669
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol St6galnac6
Ensembl Gene ENSMUSG00000026811
Gene NameST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6
SynonymsST6GalNAcVI, Siat7f
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL02736
Quality Score
Status
Chromosome2
Chromosomal Location32599709-32620806 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 32614971 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 129 (R129H)
Ref Sequence ENSEMBL: ENSMUSP00000114934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072111] [ENSMUST00000081879] [ENSMUST00000095044] [ENSMUST00000095045] [ENSMUST00000113290] [ENSMUST00000126636] [ENSMUST00000128811] [ENSMUST00000129165] [ENSMUST00000131229] [ENSMUST00000140983] [ENSMUST00000143625] [ENSMUST00000183538]
Predicted Effect probably benign
Transcript: ENSMUST00000072111
AA Change: R163H

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000071983
Gene: ENSMUSG00000026811
AA Change: R163H

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:Glyco_transf_29 55 328 2.5e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000081879
AA Change: R165H

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000080555
Gene: ENSMUSG00000026811
AA Change: R165H

DomainStartEndE-ValueType
low complexity region 17 29 N/A INTRINSIC
Pfam:Glyco_transf_29 62 329 2.1e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095044
AA Change: R163H

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000092654
Gene: ENSMUSG00000026811
AA Change: R163H

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:Glyco_transf_29 55 328 2.5e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095045
AA Change: R129H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000092655
Gene: ENSMUSG00000026811
AA Change: R129H

DomainStartEndE-ValueType
Pfam:Glyco_transf_29 41 307 1.8e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113290
AA Change: R129H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000108915
Gene: ENSMUSG00000026811
AA Change: R129H

DomainStartEndE-ValueType
Pfam:Glyco_transf_29 21 294 1.7e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126636
Predicted Effect probably benign
Transcript: ENSMUST00000128811
SMART Domains Protein: ENSMUSP00000118893
Gene: ENSMUSG00000026811

DomainStartEndE-ValueType
Pfam:Glyco_transf_29 20 108 7e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129165
Predicted Effect probably benign
Transcript: ENSMUST00000131229
AA Change: R143H

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000115430
Gene: ENSMUSG00000026811
AA Change: R143H

DomainStartEndE-ValueType
Pfam:Glyco_transf_29 35 176 3.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140983
AA Change: R129H

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000114934
Gene: ENSMUSG00000026811
AA Change: R129H

DomainStartEndE-ValueType
Pfam:Glyco_transf_29 21 229 7.3e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149220
Predicted Effect probably benign
Transcript: ENSMUST00000183538
AA Change: R163H

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000138916
Gene: ENSMUSG00000026811
AA Change: R163H

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:Glyco_transf_29 55 232 4.8e-24 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ST6GALNAC6 belongs to a family of sialyltransferases that modify proteins and ceramides on the cell surface to alter cell-cell or cell-extracellular matrix interactions (Tsuchida et al., 2003 [PubMed 12668675]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik T C 1: 37,637,873 E76G probably damaging Het
9430007A20Rik G A 4: 144,528,637 R209K probably benign Het
A830018L16Rik G A 1: 11,972,051 A416T probably benign Het
Akap12 A G 10: 4,355,637 I816V probably benign Het
Antxrl A G 14: 34,056,618 probably benign Het
Atp1a3 G A 7: 24,980,109 T920I probably damaging Het
Cd22 C T 7: 30,878,045 probably null Het
Cntn3 T A 6: 102,203,939 N765I probably damaging Het
Crebbp G A 16: 4,154,910 P307S probably benign Het
Dapk2 T A 9: 66,268,916 M333K probably benign Het
Decr1 T A 4: 15,930,952 T127S probably benign Het
Dnmbp A T 19: 43,849,770 probably benign Het
Erbin A G 13: 103,839,395 S664P probably damaging Het
Hectd4 G T 5: 121,342,719 C2941F possibly damaging Het
Ighv1-4 A G 12: 114,487,252 Y79H probably benign Het
Matn3 T A 12: 8,955,422 D277E possibly damaging Het
Mgarp C A 3: 51,396,445 A36S possibly damaging Het
Mycbp2 A G 14: 103,114,242 probably benign Het
Nynrin G A 14: 55,870,909 A1158T probably damaging Het
Olfr427 T G 1: 174,099,647 I63S probably damaging Het
Olfr729 G A 14: 50,148,424 A150V probably benign Het
Palm2 C A 4: 57,709,721 A222E probably damaging Het
Pkd1l2 T C 8: 117,040,666 D1295G probably benign Het
Ppig A G 2: 69,736,094 I171M probably damaging Het
Ptprs A T 17: 56,458,248 V12E possibly damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rpgrip1l T A 8: 91,263,591 Q741L possibly damaging Het
Slco6d1 T C 1: 98,428,311 V157A possibly damaging Het
Sox6 A C 7: 115,580,640 D302E probably damaging Het
Spata3 T C 1: 86,024,435 V136A probably damaging Het
Tmem184c A T 8: 77,597,846 D338E probably damaging Het
Tmem67 A G 4: 12,045,789 probably null Het
Ttn A T 2: 76,878,270 probably benign Het
Usp16 T C 16: 87,464,835 V113A possibly damaging Het
Utrn A G 10: 12,421,640 Y675H probably damaging Het
Zc3h4 T A 7: 16,417,383 Y117* probably null Het
Zc3h7b A T 15: 81,791,974 M694L probably benign Het
Zfp345 A T 2: 150,474,554 Y45N probably damaging Het
Other mutations in St6galnac6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0097:St6galnac6 UTSW 2 32599802 missense probably damaging 0.99
R1547:St6galnac6 UTSW 2 32614965 missense possibly damaging 0.75
R1654:St6galnac6 UTSW 2 32619509 missense probably damaging 1.00
R4385:St6galnac6 UTSW 2 32615024 missense possibly damaging 0.84
R4744:St6galnac6 UTSW 2 32618543 missense probably damaging 1.00
R4968:St6galnac6 UTSW 2 32608086 missense probably benign 0.00
R5169:St6galnac6 UTSW 2 32614845 missense possibly damaging 0.91
R6037:St6galnac6 UTSW 2 32612228 missense probably damaging 1.00
R6037:St6galnac6 UTSW 2 32612228 missense probably damaging 1.00
R7883:St6galnac6 UTSW 2 32614929 missense probably benign 0.02
Posted On2015-04-16