Incidental Mutation 'IGL01451:St6galnac1'
ID84627
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: 0.058) question?
Stock #IGL01451
Quality Score
Status
Chromosome11
Chromosomal Location116765025-116775507 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 116769339 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 49 (S49R)
Ref Sequence ENSEMBL: ENSMUSP00000009732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009732]
Predicted Effect probably benign
Transcript: ENSMUST00000009732
AA Change: S49R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000009732
Gene: ENSMUSG00000009588
AA Change: S49R

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik A G 3: 124,579,878 S23P possibly damaging Het
Adam1a T C 5: 121,519,376 Y618C probably benign Het
Amigo2 A C 15: 97,245,226 S438R probably benign Het
Atp5k T C 5: 108,434,056 I21V probably benign Het
Dnah2 T C 11: 69,474,191 probably benign Het
Dock2 A G 11: 34,310,390 Y984H probably damaging Het
Dpysl2 T A 14: 66,807,918 I469F possibly damaging Het
Edem3 C T 1: 151,818,628 T886I probably benign Het
Gart T C 16: 91,625,512 T706A probably benign Het
Gfpt2 A T 11: 49,807,690 probably benign Het
Gm11541 T G 11: 94,695,669 D84A unknown Het
Gne T C 4: 44,041,860 probably null Het
Gria4 A T 9: 4,503,652 D321E probably benign Het
Ift122 T G 6: 115,912,604 probably null Het
Lcp2 A T 11: 34,047,345 probably benign Het
Mcm2 C T 6: 88,891,966 probably benign Het
Olfr921 A G 9: 38,775,929 I225V probably benign Het
Ptpru C A 4: 131,769,492 probably benign Het
Rpap2 T C 5: 107,603,626 probably null Het
Slc25a39 T C 11: 102,404,900 T138A probably damaging Het
Stat1 T C 1: 52,139,343 L312P probably damaging Het
Tmem198 T C 1: 75,484,370 probably benign Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Treml4 T C 17: 48,264,995 probably benign Het
Trpm6 A G 19: 18,809,569 D503G probably damaging Het
Ttn C A 2: 76,945,273 E1854D unknown Het
Ubqln3 A T 7: 104,142,196 M229K possibly damaging Het
Zfyve9 T C 4: 108,682,260 T939A probably damaging Het
Other mutations in St6galnac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:St6galnac1 APN 11 116767706 missense probably damaging 1.00
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
Z1177:St6galnac1 UTSW 11 116775428 start gained probably benign
Posted On2013-11-11