Incidental Mutation 'IGL00430:St6galnac3'
ID6732
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol St6galnac3
Ensembl Gene ENSMUSG00000052544
Gene NameST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3
SynonymsSiat7c, ST6GalNAc III
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00430
Quality Score
Status
Chromosome3
Chromosomal Location153198266-153725174 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 153509403 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 38 (N38S)
Ref Sequence ENSEMBL: ENSMUSP00000143747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064460] [ENSMUST00000200397]
Predicted Effect probably benign
Transcript: ENSMUST00000064460
SMART Domains Protein: ENSMUSP00000068598
Gene: ENSMUSG00000052544

DomainStartEndE-ValueType
transmembrane domain 9 28 N/A INTRINSIC
Pfam:Glyco_transf_29 43 299 7.6e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198775
Predicted Effect probably benign
Transcript: ENSMUST00000200397
AA Change: N38S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000143747
Gene: ENSMUSG00000052544
AA Change: N38S

DomainStartEndE-ValueType
transmembrane domain 9 28 N/A INTRINSIC
Pfam:Glyco_transf_29 43 299 7.6e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200576
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ST6GALNAC3 belongs to a family of sialyltransferases that transfer sialic acids from CMP-sialic acid to terminal positions of carbohydrate groups in glycoproteins and glycolipids (Lee et al., 1999 [PubMed 10207017]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,784,202 S17N probably benign Het
Atp2a1 C T 7: 126,447,216 W72* probably null Het
Baz2b C A 2: 59,912,795 A1611S probably benign Het
Cep290 A T 10: 100,508,724 I475L probably benign Het
Cpsf4l C T 11: 113,709,218 probably benign Het
Crispld2 A T 8: 120,033,560 R408S probably damaging Het
Cyp3a25 A T 5: 145,993,360 M145K probably damaging Het
Dexi A T 16: 10,542,445 D82E probably benign Het
Epyc A T 10: 97,681,147 K282N probably benign Het
Ercc6l2 G T 13: 63,858,319 V588F probably damaging Het
Galnt14 C T 17: 73,494,232 V532I probably damaging Het
Grk1 C A 8: 13,413,128 Y383* probably null Het
Gtpbp1 G T 15: 79,719,136 G609W possibly damaging Het
Hadha C T 5: 30,120,147 V682M possibly damaging Het
Igdcc3 A C 9: 65,182,019 D499A probably damaging Het
Kcna10 T G 3: 107,194,728 V225G probably damaging Het
Kcnh4 T C 11: 100,757,654 T75A possibly damaging Het
Lama4 A G 10: 39,045,704 E407G possibly damaging Het
Mrpl13 T A 15: 55,540,201 K105N probably damaging Het
Pcdhb2 A T 18: 37,296,463 probably null Het
Pck2 C T 14: 55,543,944 A209V probably benign Het
Plce1 A G 19: 38,725,017 E1243G probably damaging Het
Plekhh2 A T 17: 84,521,775 M25L probably benign Het
Rasef G A 4: 73,771,425 Q117* probably null Het
Rbm14 A G 19: 4,811,426 V28A probably damaging Het
Rcan2 A G 17: 43,836,384 T38A probably benign Het
Rin1 A G 19: 5,051,376 N96S probably benign Het
Rrp12 A G 19: 41,877,334 probably null Het
Slco1a6 A T 6: 142,101,651 C404* probably null Het
Top2b T A 14: 16,422,692 S1376R probably benign Het
Trip11 T C 12: 101,886,147 I553V probably benign Het
Trip12 T G 1: 84,763,861 H559P probably damaging Het
Uggt2 A T 14: 119,026,429 L1063* probably null Het
Zmym6 T A 4: 127,101,949 C269* probably null Het
Other mutations in St6galnac3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03104:St6galnac3 APN 3 153205478 missense probably damaging 1.00
IGL03144:St6galnac3 APN 3 153205527 missense probably damaging 1.00
R1606:St6galnac3 UTSW 3 153206668 missense probably benign 0.22
R4285:St6galnac3 UTSW 3 153206723 missense probably benign 0.01
R4722:St6galnac3 UTSW 3 153411529 missense probably damaging 1.00
R6088:St6galnac3 UTSW 3 153206715 missense probably damaging 1.00
R6488:St6galnac3 UTSW 3 153411757 missense probably damaging 1.00
R6967:St6galnac3 UTSW 3 153206708 missense probably damaging 1.00
R7073:St6galnac3 UTSW 3 153411637 missense possibly damaging 0.95
R7144:St6galnac3 UTSW 3 153411532 missense possibly damaging 0.81
R7680:St6galnac3 UTSW 3 153205410 missense probably damaging 1.00
R8016:St6galnac3 UTSW 3 153205492 missense probably damaging 1.00
R8151:St6galnac3 UTSW 3 153411580 missense probably damaging 1.00
Z1176:St6galnac3 UTSW 3 153225702 missense probably null
Posted On2012-04-20