Incidental Mutation 'R1570:St6galnac1'
ID 177204
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 039609-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R1570 (G1)
Quality Score 211
Status Validated
Chromosome 11
Chromosomal Location 116655851-116666333 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 116657474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000009732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009732]
AlphaFold Q9QZ39
Predicted Effect probably benign
Transcript: ENSMUST00000009732
SMART Domains Protein: ENSMUSP00000009732
Gene: ENSMUSG00000009588

DomainStartEndE-ValueType
transmembrane domain 13 30 N/A INTRINSIC
Pfam:Glyco_transf_29 230 518 2.9e-72 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.0%
Validation Efficiency 93% (77/83)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apobec1 A G 6: 122,568,044 (GRCm39) probably null Het
Arhgap21 G T 2: 20,885,651 (GRCm39) Q348K probably benign Het
Arl5c A G 11: 97,883,213 (GRCm39) V129A probably benign Het
Armh1 A G 4: 117,087,189 (GRCm39) S159P probably damaging Het
Asb8 A G 15: 98,034,309 (GRCm39) L82P probably damaging Het
Bahcc1 G A 11: 120,163,009 (GRCm39) A436T possibly damaging Het
Btc T C 5: 91,550,576 (GRCm39) D2G unknown Het
C1s2 G A 6: 124,602,723 (GRCm39) T490M probably benign Het
Caap1 C T 4: 94,444,814 (GRCm39) G43D probably benign Het
Ccr5 T C 9: 123,925,000 (GRCm39) V201A probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdhr5 C A 7: 140,851,682 (GRCm39) G541C probably damaging Het
Cep170 A G 1: 176,583,367 (GRCm39) I1004T possibly damaging Het
Chd9 A T 8: 91,763,170 (GRCm39) M2332L probably benign Het
Clk1 T A 1: 58,453,584 (GRCm39) H334L probably benign Het
Cyp4b1 G A 4: 115,493,160 (GRCm39) S228F probably benign Het
Dnah9 T C 11: 66,003,156 (GRCm39) N883D probably benign Het
Dync2h1 A G 9: 7,176,926 (GRCm39) L11P probably benign Het
Ephx4 A G 5: 107,567,717 (GRCm39) E225G probably damaging Het
Erich6 C T 3: 58,538,080 (GRCm39) probably null Het
Espl1 A G 15: 102,206,802 (GRCm39) T89A probably damaging Het
Evi2 T A 11: 79,407,076 (GRCm39) K166N possibly damaging Het
Glrx5 A G 12: 104,999,127 (GRCm39) T57A possibly damaging Het
Gnptab T A 10: 88,255,316 (GRCm39) V222E probably damaging Het
Gpr155 T C 2: 73,200,382 (GRCm39) Y375C possibly damaging Het
Hsd11b1 C G 1: 192,922,635 (GRCm39) E141Q probably damaging Het
Ildr2 T C 1: 166,131,154 (GRCm39) F337L probably damaging Het
Ino80 C T 2: 119,277,509 (GRCm39) R322Q possibly damaging Het
Lcp2 A G 11: 34,039,601 (GRCm39) D467G probably benign Het
Lmbr1 A G 5: 29,459,556 (GRCm39) I229T probably damaging Het
Lnpep A T 17: 17,799,418 (GRCm39) M79K probably damaging Het
Lpin1 T C 12: 16,610,999 (GRCm39) Q564R possibly damaging Het
Lpin2 T A 17: 71,552,176 (GRCm39) L794* probably null Het
Lrrc37 A G 11: 103,500,764 (GRCm39) Y597H possibly damaging Het
Lrrc45 T C 11: 120,610,935 (GRCm39) probably null Het
Mtus1 A G 8: 41,529,278 (GRCm39) S751P probably damaging Het
Nbr1 T C 11: 101,455,656 (GRCm39) probably benign Het
Nup107 A G 10: 117,599,749 (GRCm39) F592S possibly damaging Het
Nup133 T A 8: 124,675,915 (GRCm39) M1L possibly damaging Het
Or2a20 T C 6: 43,194,285 (GRCm39) V146A probably benign Het
Or3a10 A C 11: 73,935,633 (GRCm39) F156V possibly damaging Het
Or4n4 T G 14: 50,518,981 (GRCm39) H243P probably damaging Het
Or4p8 A C 2: 88,727,290 (GRCm39) I217S probably damaging Het
Or52b4i C A 7: 102,191,177 (GRCm39) H11Q probably damaging Het
Or8i2 A T 2: 86,852,616 (GRCm39) S91T probably benign Het
Otud7b T C 3: 96,063,208 (GRCm39) C816R probably damaging Het
Pi4k2a T C 19: 42,089,083 (GRCm39) V148A probably benign Het
Pih1d2 T C 9: 50,532,479 (GRCm39) M195T probably benign Het
Pira13 T C 7: 3,826,060 (GRCm39) E311G probably benign Het
Plpp6 T C 19: 28,942,178 (GRCm39) F260L probably damaging Het
R3hcc1l A T 19: 42,570,393 (GRCm39) T663S probably damaging Het
Rnf25 T C 1: 74,634,426 (GRCm39) E199G probably damaging Het
Scin G A 12: 40,134,380 (GRCm39) probably benign Het
Serpinb1c A T 13: 33,080,973 (GRCm39) S37T probably benign Het
Snx19 A G 9: 30,339,639 (GRCm39) D259G probably damaging Het
Sorcs3 A G 19: 48,752,620 (GRCm39) K805R probably damaging Het
Sox6 C A 7: 115,376,358 (GRCm39) G125W probably damaging Het
Spink5 A G 18: 44,100,174 (GRCm39) I64V probably benign Het
Spmip10 T A 18: 56,727,606 (GRCm39) D101E probably benign Het
Sult1c2 T C 17: 54,143,991 (GRCm39) I105V probably benign Het
Tacr3 T G 3: 134,535,517 (GRCm39) S162A probably damaging Het
Ttc6 T C 12: 57,721,549 (GRCm39) S1013P probably damaging Het
Zbtb11 C A 16: 55,811,178 (GRCm39) N445K probably benign Het
Zfp423 A C 8: 88,509,186 (GRCm39) V261G probably benign Het
Zfp59 T C 7: 27,553,016 (GRCm39) V156A probably benign Het
Zscan2 C A 7: 80,513,141 (GRCm39) A42E 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
R1569:St6galnac1 UTSW 11 116,660,097 (GRCm39) missense possibly damaging 0.46
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'- CCATCTCCAAGTGTCACAGAAGCAG -3'
(R):5'- ATGAGTGCAAATGGGCGTGGTC -3'

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