Incidental Mutation 'R8151:St6galnac3'
ID 632947
Institutional Source Beutler Lab
Gene Symbol St6galnac3
Ensembl Gene ENSMUSG00000052544
Gene Name ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3
Synonyms ST6GalNAc III, Siat7c
MMRRC Submission 067577-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8151 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 152903911-153430804 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 153117217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 169 (V169M)
Ref Sequence ENSEMBL: ENSMUSP00000143747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064460] [ENSMUST00000200397]
AlphaFold Q9WUV2
Predicted Effect probably damaging
Transcript: ENSMUST00000064460
AA Change: V121M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000068598
Gene: ENSMUSG00000052544
AA Change: V121M

DomainStartEndE-ValueType
transmembrane domain 9 28 N/A INTRINSIC
Pfam:Glyco_transf_29 43 299 7.6e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000200397
AA Change: V169M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143747
Gene: ENSMUSG00000052544
AA Change: V169M

DomainStartEndE-ValueType
transmembrane domain 9 28 N/A INTRINSIC
Pfam:Glyco_transf_29 43 299 7.6e-35 PFAM
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.5%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ST6GALNAC3 belongs to a family of sialyltransferases that transfer sialic acids from CMP-sialic acid to terminal positions of carbohydrate groups in glycoproteins and glycolipids (Lee et al., 1999 [PubMed 10207017]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,982,043 (GRCm39) I1109T possibly damaging Het
Aipl1 C A 11: 71,927,584 (GRCm39) D44Y probably benign Het
Aldh8a1 C T 10: 21,271,465 (GRCm39) T397M probably damaging Het
Btbd16 T C 7: 130,398,825 (GRCm39) S278P probably damaging Het
Ccdc110 G A 8: 46,395,830 (GRCm39) E574K probably damaging Het
Cd19 T A 7: 126,013,478 (GRCm39) K104* probably null Het
Cenpe A G 3: 134,952,783 (GRCm39) E1491G probably benign Het
Col12a1 A T 9: 79,537,831 (GRCm39) S2546T possibly damaging Het
Col18a1 T C 10: 76,948,418 (GRCm39) T365A unknown Het
Ctif G T 18: 75,653,176 (GRCm39) D360E probably benign Het
Fat4 G A 3: 38,946,203 (GRCm39) E1699K probably damaging Het
Fbxo39 G A 11: 72,208,526 (GRCm39) V293M probably damaging Het
Fcgbpl1 T C 7: 27,852,766 (GRCm39) I1351T possibly damaging Het
Fhip1a A T 3: 85,595,847 (GRCm39) I346N probably damaging Het
Havcr2 A G 11: 46,366,722 (GRCm39) K221E possibly damaging Het
Hdac5 T C 11: 102,097,294 (GRCm39) T209A probably benign Het
Herc1 A G 9: 66,341,073 (GRCm39) Q1730R probably damaging Het
Ifi202b T C 1: 173,804,923 (GRCm39) T10A probably benign Het
Il18rap T C 1: 40,564,428 (GRCm39) S153P probably benign Het
Klk1b21 C T 7: 43,753,787 (GRCm39) R24* probably null Het
Kras ACTTCTTCTTCTTCTTCTTC ACTTCTTCTTCTTCTTC 6: 145,166,360 (GRCm39) probably benign Het
Ldlrad4 A G 18: 68,383,643 (GRCm39) E113G possibly damaging Het
Lhcgr AT ATT 17: 89,049,677 (GRCm39) 615 probably null Het
Macf1 T C 4: 123,291,206 (GRCm39) E3895G possibly damaging Het
Mug1 T C 6: 121,818,117 (GRCm39) S143P probably benign Het
Nudcd2 A T 11: 40,624,529 (GRCm39) probably benign Het
Nup85 A G 11: 115,468,759 (GRCm39) T201A probably benign Het
Odad2 A G 18: 7,127,358 (GRCm39) F952L probably damaging Het
Plppr2 A G 9: 21,852,105 (GRCm39) E64G probably damaging Het
Plvap A G 8: 71,960,625 (GRCm39) S264P probably benign Het
Polm T C 11: 5,787,906 (GRCm39) probably benign Het
Polr2d T A 18: 31,928,365 (GRCm39) H93Q probably damaging Het
Ptprt T C 2: 162,120,005 (GRCm39) E154G probably damaging Het
Rasal2 C A 1: 157,071,154 (GRCm39) G67C probably damaging Het
Sdk2 A G 11: 113,763,683 (GRCm39) V329A possibly damaging Het
Sorl1 A G 9: 41,979,229 (GRCm39) V423A probably damaging Het
Spef2 A G 15: 9,601,598 (GRCm39) S1555P unknown Het
Srgap3 A C 6: 112,793,628 (GRCm39) L116R probably damaging Het
Stx16 T A 2: 173,935,284 (GRCm39) M206K possibly damaging Het
Txnip A G 3: 96,466,929 (GRCm39) D201G possibly damaging Het
Ubr4 T C 4: 139,130,112 (GRCm39) V718A probably damaging Het
Vav3 A C 3: 109,416,164 (GRCm39) D261A probably benign Het
Vcam1 A C 3: 115,918,128 (GRCm39) L278V possibly damaging Het
Vta1 C A 10: 14,543,697 (GRCm39) A226S probably damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp777 G A 6: 48,006,075 (GRCm39) Q440* probably null Het
Other mutations in St6galnac3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:St6galnac3 APN 3 153,215,040 (GRCm39) missense probably benign 0.00
IGL03104:St6galnac3 APN 3 152,911,115 (GRCm39) missense probably damaging 1.00
IGL03144:St6galnac3 APN 3 152,911,164 (GRCm39) missense probably damaging 1.00
R1606:St6galnac3 UTSW 3 152,912,305 (GRCm39) missense probably benign 0.22
R4285:St6galnac3 UTSW 3 152,912,360 (GRCm39) missense probably benign 0.01
R4722:St6galnac3 UTSW 3 153,117,166 (GRCm39) missense probably damaging 1.00
R6088:St6galnac3 UTSW 3 152,912,352 (GRCm39) missense probably damaging 1.00
R6488:St6galnac3 UTSW 3 153,117,394 (GRCm39) missense probably damaging 1.00
R6967:St6galnac3 UTSW 3 152,912,345 (GRCm39) missense probably damaging 1.00
R7073:St6galnac3 UTSW 3 153,117,274 (GRCm39) missense possibly damaging 0.95
R7144:St6galnac3 UTSW 3 153,117,169 (GRCm39) missense possibly damaging 0.81
R7680:St6galnac3 UTSW 3 152,911,047 (GRCm39) missense probably damaging 1.00
R8016:St6galnac3 UTSW 3 152,911,129 (GRCm39) missense probably damaging 1.00
R9209:St6galnac3 UTSW 3 153,117,360 (GRCm39) missense possibly damaging 0.78
R9379:St6galnac3 UTSW 3 153,215,070 (GRCm39) missense probably benign 0.00
R9603:St6galnac3 UTSW 3 153,117,177 (GRCm39) missense probably benign 0.07
Z1176:St6galnac3 UTSW 3 152,931,339 (GRCm39) missense probably null
Predicted Primers PCR Primer
(F):5'- ACTCCGTTCACTTGACAGC -3'
(R):5'- TGGAGAATGAACAACGCCC -3'

Sequencing Primer
(F):5'- TTCACTTGACAGCCGGCAGAG -3'
(R):5'- CCCAACCAAGGGCTTTGAG -3'
Posted On 2020-06-30