Incidental Mutation 'R4285:St6galnac3'
ID 368357
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 041080-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4285 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 152903911-153430804 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 152912360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 161 (V161G)
Ref Sequence ENSEMBL: ENSMUSP00000068598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064460] [ENSMUST00000200397]
AlphaFold Q9WUV2
Predicted Effect probably benign
Transcript: ENSMUST00000064460
AA Change: V161G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000068598
Gene: ENSMUSG00000052544
AA Change: V161G

DomainStartEndE-ValueType
transmembrane domain 9 28 N/A INTRINSIC
Pfam:Glyco_transf_29 43 299 7.6e-35 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000199707
AA Change: V28G
Predicted Effect probably benign
Transcript: ENSMUST00000200397
AA Change: V209G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000143747
Gene: ENSMUSG00000052544
AA Change: V209G

DomainStartEndE-ValueType
transmembrane domain 9 28 N/A INTRINSIC
Pfam:Glyco_transf_29 43 299 7.6e-35 PFAM
Meta Mutation Damage Score 0.0768 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (42/43)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl G A 3: 116,545,827 (GRCm39) S1323L possibly damaging Het
Ahnak T A 19: 8,994,203 (GRCm39) C5162* probably null Het
Carmil3 GGACGA GGA 14: 55,736,933 (GRCm39) probably benign Het
Cfap73 T C 5: 120,770,654 (GRCm39) K39E possibly damaging Het
Coq6 C T 12: 84,417,178 (GRCm39) probably benign Het
Dlc1 C T 8: 37,041,282 (GRCm39) E1316K possibly damaging Het
Dscam A G 16: 96,510,309 (GRCm39) probably null Het
Eya2 T A 2: 165,566,700 (GRCm39) N250K probably benign Het
Fat4 A G 3: 38,943,320 (GRCm39) I738V probably benign Het
Gria2 T G 3: 80,614,969 (GRCm39) probably benign Het
Hnrnph3 A T 10: 62,852,247 (GRCm39) D238E probably damaging Het
Il1rn T C 2: 24,239,557 (GRCm39) L151P probably damaging Het
Kctd19 G A 8: 106,109,581 (GRCm39) probably benign Het
Kdm1a T C 4: 136,309,347 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lamc1 C A 1: 153,110,298 (GRCm39) G1126W probably damaging Het
Magi3 C A 3: 103,923,184 (GRCm39) G1178* probably null Het
Man2a2 T C 7: 80,018,367 (GRCm39) D141G probably damaging Het
Map2k1 C A 9: 64,119,925 (GRCm39) V127L probably damaging Het
Memo1 T C 17: 74,562,293 (GRCm39) probably null Het
Mxd3 A G 13: 55,477,167 (GRCm39) S31P probably benign Het
Myo5b G A 18: 74,847,920 (GRCm39) E1053K probably benign Het
Nup50l T C 6: 96,142,733 (GRCm39) T104A probably benign Het
Or2m12 A C 16: 19,104,714 (GRCm39) F260V probably damaging Het
Or51a5 G T 7: 102,771,867 (GRCm39) Y37* probably null Het
Pex5l A G 3: 33,061,336 (GRCm39) I171T probably damaging Het
Plag1 A G 4: 3,905,654 (GRCm39) V12A probably benign Het
Podn C A 4: 107,878,893 (GRCm39) V180L possibly damaging Het
Prox2 T A 12: 85,141,698 (GRCm39) R168S probably benign Het
Prss29 A G 17: 25,541,231 (GRCm39) Y225C probably damaging Het
Rassf2 G A 2: 131,847,314 (GRCm39) T97I probably benign Het
Samm50 T C 15: 84,081,213 (GRCm39) V47A probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc20a2 G A 8: 23,051,365 (GRCm39) R466Q probably benign Het
Slc25a51 C T 4: 45,399,768 (GRCm39) V141M probably benign Het
Unc5c T C 3: 141,420,435 (GRCm39) I52T probably damaging Het
Vat1l A G 8: 114,932,523 (GRCm39) E23G probably damaging Het
Vmn2r91 A G 17: 18,356,030 (GRCm39) T566A probably benign Het
Wls A T 3: 159,639,902 (GRCm39) H511L probably benign Het
Zfp644 G A 5: 106,782,984 (GRCm39) T1130I probably damaging 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
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
R8151:St6galnac3 UTSW 3 153,117,217 (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'- CACCCGGAAATAATTGTCATCTG -3'
(R):5'- TAGTGCGAGCAAGAGTGTGC -3'

Sequencing Primer
(F):5'- GCGATCTTACTTGCAGTAG -3'
(R):5'- AGCAAGAGTGTGCCTATAAATTATTC -3'
Posted On 2016-02-01