Incidental Mutation 'IGL00227:St6galnac1'
ID2204
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol St6galnac1
Ensembl Gene ENSMUSG00000009588
Gene NameST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1
SynonymsSiat7a, ST6GalNAc I
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL00227
Quality Score
Status
Chromosome11
Chromosomal Location116765025-116775507 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 116767706 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 311 (I311V)
Ref Sequence ENSEMBL: ENSMUSP00000009732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009732]
Predicted Effect probably damaging
Transcript: ENSMUST00000009732
AA Change: I311V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000009732
Gene: ENSMUSG00000009588
AA Change: I311V

DomainStartEndE-ValueType
transmembrane domain 13 30 N/A INTRINSIC
Pfam:Glyco_transf_29 230 518 2.9e-72 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ikehara et al., 1999 [PubMed 10536037]; Sewell et al., 2006 [PubMed 16319059]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 C A 17: 84,688,529 probably null Het
Alms1 A G 6: 85,677,964 E2695G probably damaging Het
B3galnt2 A G 13: 13,987,431 N246D probably benign Het
Ces1h A T 8: 93,352,470 M495K unknown Het
Chga A G 12: 102,562,799 E345G probably damaging Het
Chrnb3 T C 8: 27,385,101 F43L probably benign Het
Ctu1 C A 7: 43,675,504 F122L possibly damaging Het
Cwf19l2 C A 9: 3,409,990 Q40K probably benign Het
Dlg2 T C 7: 91,965,645 I264T probably damaging Het
Dnah1 C T 14: 31,286,896 V1974M probably damaging Het
Foxf2 C A 13: 31,626,189 P37Q unknown Het
Gtf2e2 T C 8: 33,776,445 probably benign Het
Hectd3 C A 4: 117,000,588 probably benign Het
Hectd3 T C 4: 117,000,587 probably benign Het
Hectd3 T C 4: 117,000,589 probably benign Het
Ift122 A T 6: 115,917,057 H901L probably benign Het
Itih1 C T 14: 30,942,889 probably null Het
Krt84 C A 15: 101,527,773 M460I probably benign Het
Moxd1 C T 10: 24,282,593 H382Y probably damaging Het
Npy6r A T 18: 44,276,444 T311S probably damaging Het
Olfr59 C T 11: 74,289,126 T160I probably damaging Het
Olfr665 C T 7: 104,881,517 T270I probably benign Het
Pbk T C 14: 65,813,891 I126T probably damaging Het
Pde1b C T 15: 103,526,680 S400F probably damaging Het
Plxna2 T A 1: 194,644,657 C300S probably damaging Het
Pnpla6 C T 8: 3,523,808 R419W probably damaging Het
Ppp4r3a A G 12: 101,049,794 L33P probably damaging Het
Ralb T A 1: 119,476,040 D119V probably benign Het
Relb A C 7: 19,622,924 probably null Het
Rims1 T A 1: 22,468,242 D609V probably damaging Het
Scnn1a A G 6: 125,338,379 T377A probably benign Het
Slc13a2 T C 11: 78,400,548 T367A probably damaging Het
Sort1 T C 3: 108,356,307 L807P probably damaging Het
Sptbn1 C A 11: 30,110,818 E2051* probably null Het
Other mutations in St6galnac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01451:St6galnac1 APN 11 116769339 missense probably benign 0.00
IGL01873:St6galnac1 APN 11 116766611 missense probably damaging 0.98
IGL02569:St6galnac1 APN 11 116767702 missense probably damaging 1.00
IGL02799:St6galnac1 APN 11 116766647 splice site probably benign
IGL02935:St6galnac1 APN 11 116769345 missense probably benign
IGL03124:St6galnac1 APN 11 116775299 missense probably benign 0.00
PIT4520001:St6galnac1 UTSW 11 116769349 missense probably benign 0.00
R0126:St6galnac1 UTSW 11 116766584 missense probably benign 0.00
R0363:St6galnac1 UTSW 11 116768930 missense probably benign 0.36
R0394:St6galnac1 UTSW 11 116766640 missense probably damaging 0.99
R0828:St6galnac1 UTSW 11 116768997 missense probably benign 0.05
R1569:St6galnac1 UTSW 11 116769271 missense possibly damaging 0.46
R1570:St6galnac1 UTSW 11 116766648 splice site probably benign
R1591:St6galnac1 UTSW 11 116765863 missense probably damaging 1.00
R1602:St6galnac1 UTSW 11 116769287 missense probably benign 0.00
R2088:St6galnac1 UTSW 11 116769107 missense probably benign 0.00
R2212:St6galnac1 UTSW 11 116765856 missense probably damaging 1.00
R2266:St6galnac1 UTSW 11 116767847 nonsense probably null
R3413:St6galnac1 UTSW 11 116765856 missense probably damaging 1.00
R3835:St6galnac1 UTSW 11 116766283 missense probably damaging 1.00
R5016:St6galnac1 UTSW 11 116765880 missense probably damaging 1.00
R5446:St6galnac1 UTSW 11 116766269 missense probably benign 0.37
R6625:St6galnac1 UTSW 11 116765891 missense probably damaging 1.00
R6805:St6galnac1 UTSW 11 116768944 missense probably damaging 1.00
R7007:St6galnac1 UTSW 11 116767007 nonsense probably null
R7133:St6galnac1 UTSW 11 116767073 missense possibly damaging 0.89
R7491:St6galnac1 UTSW 11 116769184 missense probably benign 0.14
R7724:St6galnac1 UTSW 11 116766072 critical splice donor site probably null
R7812:St6galnac1 UTSW 11 116769101 missense probably benign 0.16
R8160:St6galnac1 UTSW 11 116775490 start gained probably benign
Z1177:St6galnac1 UTSW 11 116775428 start gained probably benign
Posted On2011-12-09