Incidental Mutation 'R1569:St6galnac1'
ID 177137
Institutional Source Beutler Lab
Gene Symbol St6galnac1
Ensembl Gene ENSMUSG00000009588
Gene Name ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1
Synonyms Siat7a, ST6GalNAc I
MMRRC Submission 039608-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R1569 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 116655851-116666333 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 116660097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 72 (N72T)
Ref Sequence ENSEMBL: ENSMUSP00000009732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009732]
AlphaFold Q9QZ39
Predicted Effect possibly damaging
Transcript: ENSMUST00000009732
AA Change: N72T

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000009732
Gene: ENSMUSG00000009588
AA Change: N72T

DomainStartEndE-ValueType
transmembrane domain 13 30 N/A INTRINSIC
Pfam:Glyco_transf_29 230 518 2.9e-72 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.3%
Validation Efficiency 96% (72/75)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,427 (GRCm39) K166* probably null Het
Abca2 T A 2: 25,329,197 (GRCm39) N1012K probably benign Het
Ahnak T C 19: 8,981,458 (GRCm39) V914A possibly damaging Het
Akap1 T A 11: 88,724,006 (GRCm39) M833L probably benign Het
Atp2b1 T A 10: 98,823,188 (GRCm39) H249Q probably benign Het
Atp6v0a4 A G 6: 38,027,560 (GRCm39) V750A probably damaging Het
Car6 T C 4: 150,285,499 (GRCm39) Y23C probably damaging Het
Celsr3 A G 9: 108,706,267 (GRCm39) T917A probably damaging Het
Clmn C A 12: 104,747,340 (GRCm39) D736Y probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dennd4c G A 4: 86,704,331 (GRCm39) R282H possibly damaging Het
Dsg1b T A 18: 20,529,537 (GRCm39) N327K probably damaging Het
Eftud2 A T 11: 102,745,597 (GRCm39) probably benign Het
Esyt1 G T 10: 128,354,863 (GRCm39) S512R possibly damaging Het
Fam124b T C 1: 80,190,852 (GRCm39) Y177C possibly damaging Het
Fbxl5 A T 5: 43,922,803 (GRCm39) I205K probably damaging Het
Fcrl1 A G 3: 87,292,012 (GRCm39) Y57C probably damaging Het
Gabpb1 A T 2: 126,494,171 (GRCm39) D151E probably benign Het
Gcc2 C T 10: 58,105,993 (GRCm39) L310F probably benign Het
Hsd11b1 C G 1: 192,922,635 (GRCm39) E141Q probably damaging Het
Htr1b A G 9: 81,514,340 (GRCm39) V89A probably benign Het
Ibsp A T 5: 104,458,017 (GRCm39) T185S probably damaging Het
Igfn1 T C 1: 135,896,771 (GRCm39) D1265G probably benign Het
Ints9 T C 14: 65,217,571 (GRCm39) Y33H possibly damaging Het
Kif1a A T 1: 92,986,532 (GRCm39) probably benign Het
Lama1 A T 17: 68,087,613 (GRCm39) probably null Het
Lbp A T 2: 158,161,607 (GRCm39) D223V probably damaging Het
Lck C A 4: 129,449,449 (GRCm39) D283Y probably damaging Het
Lcmt2 A G 2: 120,970,309 (GRCm39) F258S probably damaging Het
Lsg1 G T 16: 30,399,823 (GRCm39) probably null Het
Maip1 T C 1: 57,452,554 (GRCm39) probably benign Het
Mark3 T G 12: 111,600,180 (GRCm39) I465S probably benign Het
Marveld2 C T 13: 100,737,506 (GRCm39) V128I probably benign Het
Mcm3ap A G 10: 76,319,022 (GRCm39) H750R possibly damaging Het
Mdn1 A T 4: 32,723,501 (GRCm39) Q2479L probably null Het
Met A T 6: 17,531,503 (GRCm39) K594* probably null Het
Pak2 G T 16: 31,856,113 (GRCm39) S241R probably damaging Het
Plxna4 T C 6: 32,162,410 (GRCm39) I1368V possibly damaging Het
Pparg T C 6: 115,416,960 (GRCm39) I51T probably benign Het
Ppp1r18 A G 17: 36,179,595 (GRCm39) E62G probably damaging Het
Prkag2 T C 5: 25,152,475 (GRCm39) S86G possibly damaging Het
Rabgap1l A T 1: 160,529,960 (GRCm39) I347K probably benign Het
Rdh1 A T 10: 127,598,941 (GRCm39) M141L probably benign Het
Rfx2 A T 17: 57,111,326 (GRCm39) I82N possibly damaging Het
Sh2b2 G A 5: 136,260,589 (GRCm39) A209V possibly damaging Het
Sh3d19 G A 3: 86,033,951 (GRCm39) R768H possibly damaging Het
Sh3rf1 C T 8: 61,837,896 (GRCm39) P814S probably damaging Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Slc15a2 T C 16: 36,576,745 (GRCm39) T430A probably benign Het
Slc17a3 A T 13: 24,039,591 (GRCm39) I250F probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spg11 A G 2: 121,932,187 (GRCm39) S552P probably damaging Het
Srpk2 A G 5: 23,719,024 (GRCm39) I597T probably damaging Het
Tecpr2 T A 12: 110,911,321 (GRCm39) probably null Het
Tmem208 T A 8: 106,061,462 (GRCm39) C163S possibly damaging Het
Tpte T C 8: 22,835,047 (GRCm39) V401A probably damaging Het
Trhde A G 10: 114,282,093 (GRCm39) W795R possibly damaging Het
Trpm3 G A 19: 22,866,809 (GRCm39) probably null Het
Ttn T A 2: 76,626,063 (GRCm39) T14999S possibly damaging Het
Txndc2 A T 17: 65,945,921 (GRCm39) N85K probably benign Het
Yes1 A G 5: 32,810,507 (GRCm39) Y192C probably damaging Het
Zan A G 5: 137,427,392 (GRCm39) V2415A unknown Het
Zfp410 T A 12: 84,379,726 (GRCm39) C311S probably damaging Het
Zfp51 A T 17: 21,676,642 (GRCm39) M38L probably benign Het
Zfp560 A T 9: 20,260,011 (GRCm39) C284S possibly damaging Het
Zfp808 C T 13: 62,320,714 (GRCm39) R648* probably null Het
Zfp976 G T 7: 42,262,806 (GRCm39) H344N probably damaging Het
Other mutations in St6galnac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:St6galnac1 APN 11 116,658,532 (GRCm39) missense probably damaging 1.00
IGL01451:St6galnac1 APN 11 116,660,165 (GRCm39) missense probably benign 0.00
IGL01873:St6galnac1 APN 11 116,657,437 (GRCm39) missense probably damaging 0.98
IGL02569:St6galnac1 APN 11 116,658,528 (GRCm39) missense probably damaging 1.00
IGL02799:St6galnac1 APN 11 116,657,473 (GRCm39) splice site probably benign
IGL02935:St6galnac1 APN 11 116,660,171 (GRCm39) missense probably benign
IGL03124:St6galnac1 APN 11 116,666,125 (GRCm39) missense probably benign 0.00
PIT4520001:St6galnac1 UTSW 11 116,660,175 (GRCm39) missense probably benign 0.00
R0126:St6galnac1 UTSW 11 116,657,410 (GRCm39) missense probably benign 0.00
R0363:St6galnac1 UTSW 11 116,659,756 (GRCm39) missense probably benign 0.36
R0394:St6galnac1 UTSW 11 116,657,466 (GRCm39) missense probably damaging 0.99
R0828:St6galnac1 UTSW 11 116,659,823 (GRCm39) missense probably benign 0.05
R1570:St6galnac1 UTSW 11 116,657,474 (GRCm39) splice site probably benign
R1591:St6galnac1 UTSW 11 116,656,689 (GRCm39) missense probably damaging 1.00
R1602:St6galnac1 UTSW 11 116,660,113 (GRCm39) missense probably benign 0.00
R2088:St6galnac1 UTSW 11 116,659,933 (GRCm39) missense probably benign 0.00
R2212:St6galnac1 UTSW 11 116,656,682 (GRCm39) missense probably damaging 1.00
R2266:St6galnac1 UTSW 11 116,658,673 (GRCm39) nonsense probably null
R3413:St6galnac1 UTSW 11 116,656,682 (GRCm39) missense probably damaging 1.00
R3835:St6galnac1 UTSW 11 116,657,109 (GRCm39) missense probably damaging 1.00
R5016:St6galnac1 UTSW 11 116,656,706 (GRCm39) missense probably damaging 1.00
R5446:St6galnac1 UTSW 11 116,657,095 (GRCm39) missense probably benign 0.37
R6625:St6galnac1 UTSW 11 116,656,717 (GRCm39) missense probably damaging 1.00
R6805:St6galnac1 UTSW 11 116,659,770 (GRCm39) missense probably damaging 1.00
R7007:St6galnac1 UTSW 11 116,657,833 (GRCm39) nonsense probably null
R7133:St6galnac1 UTSW 11 116,657,899 (GRCm39) missense possibly damaging 0.89
R7491:St6galnac1 UTSW 11 116,660,010 (GRCm39) missense probably benign 0.14
R7724:St6galnac1 UTSW 11 116,656,898 (GRCm39) critical splice donor site probably null
R7812:St6galnac1 UTSW 11 116,659,927 (GRCm39) missense probably benign 0.16
R8160:St6galnac1 UTSW 11 116,666,316 (GRCm39) start gained probably benign
R8341:St6galnac1 UTSW 11 116,659,714 (GRCm39) missense probably benign 0.00
R8373:St6galnac1 UTSW 11 116,660,059 (GRCm39) missense possibly damaging 0.62
R8379:St6galnac1 UTSW 11 116,666,325 (GRCm39) start gained probably benign
R8524:St6galnac1 UTSW 11 116,658,547 (GRCm39) missense possibly damaging 0.69
Z1177:St6galnac1 UTSW 11 116,666,254 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- AGTTTGTCCAGGTGTTCTGACACAG -3'
(R):5'- GCAACAAGCCAGGATCATGAGACTC -3'

Sequencing Primer
(F):5'- ATTCTCTGGTGCTGGCCTTA -3'
(R):5'- tggaggataaaacaggaaaacac -3'
Posted On 2014-04-24