Incidental Mutation 'IGL02569:St6galnac1'
ID298947
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 #IGL02569
Quality Score
Status
Chromosome11
Chromosomal Location116765025-116775507 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 116767702 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 312 (D312G)
Ref Sequence ENSEMBL: ENSMUSP00000009732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009732]
Predicted Effect probably damaging
Transcript: ENSMUST00000009732
AA Change: D312G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000009732
Gene: ENSMUSG00000009588
AA Change: D312G

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik A C 7: 140,298,362 I885L probably benign Het
Abca1 T C 4: 53,034,061 D2223G probably damaging Het
Brd1 A G 15: 88,713,929 L538P probably damaging Het
Cacna2d2 T C 9: 107,514,046 V424A probably damaging Het
Capg A C 6: 72,561,049 E306A probably damaging Het
Cdc14b T C 13: 64,225,614 Y115C probably benign Het
Crat G A 2: 30,404,530 R509W probably damaging Het
Ddx60 A G 8: 62,024,951 N1594S possibly damaging Het
Fabp2 T C 3: 122,895,464 F18L probably damaging Het
Fam187a A G 11: 102,886,159 K263R probably benign Het
Fam227a C T 15: 79,634,122 C323Y probably benign Het
Fas A G 19: 34,320,562 E210G possibly damaging Het
Fgfbp1 A G 5: 43,979,227 F241S probably damaging Het
Gramd1a A T 7: 31,130,507 probably benign Het
Hmcn1 A T 1: 150,697,493 M2135K probably benign Het
Ikbkb G T 8: 22,693,883 Q84K probably damaging Het
Kcnk9 T C 15: 72,512,577 T251A probably benign Het
Mphosph9 C A 5: 124,297,571 E600* probably null Het
Olfr694 T A 7: 106,689,642 T30S probably benign Het
Olfr705 T A 7: 106,714,586 I32L probably benign Het
Pde1a C A 2: 79,868,258 K341N probably benign Het
Prune2 A G 19: 17,178,859 N2792S probably damaging Het
Slc17a3 A G 13: 23,846,302 Y132C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tardbp A G 4: 148,619,182 probably null Het
Tex9 C T 9: 72,478,363 V8I probably damaging Het
Tpr T A 1: 150,425,631 probably benign Het
Ttll8 C T 15: 88,933,926 W182* probably null Het
Vmn2r61 G A 7: 42,276,646 G525E probably damaging Het
Zfp111 T C 7: 24,207,069 T2A possibly damaging Het
Other mutations in St6galnac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:St6galnac1 APN 11 116767706 missense probably damaging 1.00
IGL01451:St6galnac1 APN 11 116769339 missense probably benign 0.00
IGL01873:St6galnac1 APN 11 116766611 missense probably damaging 0.98
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 On2015-04-16