Incidental Mutation 'IGL03104:St6galnac3'
ID 418876
Institutional Source Australian Phenomics Network (link to record)
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 Siat7c, ST6GalNAc III
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03104
Quality Score
Status
Chromosome 3
Chromosomal Location 153198266-153725174 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 153205478 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 282 (E282G)
Ref Sequence ENSEMBL: ENSMUSP00000143747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064460] [ENSMUST00000200397]
AlphaFold Q9WUV2
Predicted Effect probably benign
Transcript: ENSMUST00000064460
SMART Domains Protein: ENSMUSP00000068598
Gene: ENSMUSG00000052544

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: E101G
Predicted Effect probably damaging
Transcript: ENSMUST00000200397
AA Change: E282G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143747
Gene: ENSMUSG00000052544
AA Change: E282G

DomainStartEndE-ValueType
transmembrane domain 9 28 N/A INTRINSIC
Pfam:Glyco_transf_29 43 299 7.6e-35 PFAM
Coding Region Coverage
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox2 C A 1: 58,282,759 T70K probably benign Het
Armt1 T A 10: 4,439,615 Y91N possibly damaging Het
Atp1a2 A G 1: 172,293,367 L46S probably damaging Het
Baz1a A G 12: 54,894,958 S1488P probably damaging Het
Coro7 T A 16: 4,629,126 E793V probably damaging Het
Ctnnbl1 G T 2: 157,890,965 R555L probably damaging Het
Dclk2 A G 3: 86,836,359 C268R probably damaging Het
Dock7 A T 4: 98,959,023 M1684K possibly damaging Het
Dock8 T A 19: 25,201,020 C2092* probably null Het
Dtx1 T A 5: 120,694,965 Q136L possibly damaging Het
Egln3 C T 12: 54,203,195 probably benign Het
Eml5 A T 12: 98,861,245 Y575* probably null Het
Entpd5 A T 12: 84,384,248 V310E probably damaging Het
Fkbp5 A G 17: 28,415,972 F188L probably damaging Het
Frrs1 T C 3: 116,881,782 S120P probably benign Het
Gadl1 T C 9: 116,074,040 I479T possibly damaging Het
Gfra2 A T 14: 70,968,285 M106L probably benign Het
Gm17455 T A 10: 60,403,281 C108* probably null Het
Gm9733 G T 3: 15,332,223 probably benign Het
Grhpr A G 4: 44,983,867 probably benign Het
Hsp90ab1 G A 17: 45,571,523 R82C probably damaging Het
Igsf10 T C 3: 59,319,484 Y2256C probably damaging Het
Ivd A T 2: 118,872,903 I160F probably benign Het
Krtap5-5 A G 7: 142,229,713 C67R unknown Het
Lhx4 A T 1: 155,705,221 V186E probably damaging Het
Lrrk2 T C 15: 91,747,755 I1294T possibly damaging Het
Map3k5 C T 10: 20,132,055 S1202L probably benign Het
Mdfic T A 6: 15,770,320 N108K probably damaging Het
Mov10 G A 3: 104,797,307 R763W probably damaging Het
Mto1 T C 9: 78,449,520 S106P probably damaging Het
Naca C T 10: 128,040,364 probably benign Het
Olfr1408 A G 1: 173,130,959 V86A probably benign Het
Olfr282 A G 15: 98,438,246 Y259C possibly damaging Het
Pan2 T C 10: 128,315,663 probably benign Het
Pold1 T C 7: 44,540,580 Y394C probably damaging Het
Sipa1l1 T A 12: 82,342,130 S377T probably benign Het
Slc36a3 A G 11: 55,125,120 S403P probably damaging Het
Slc4a4 A G 5: 89,149,372 T480A probably damaging Het
Slu7 G A 11: 43,442,056 V315I probably benign Het
Tlr12 A G 4: 128,615,892 V855A probably benign Het
Vmn1r53 T A 6: 90,223,962 K127* probably null Het
Vmn1r72 T G 7: 11,669,885 H212P probably damaging Het
Vmn2r86 T A 10: 130,446,632 Q705L probably damaging Het
Vps33b C T 7: 80,276,083 R93C probably damaging Het
Wdr91 T A 6: 34,905,556 E219D probably benign Het
Zan G A 5: 137,463,500 T1139I unknown Het
Zc3hav1 T A 6: 38,340,343 K107N probably damaging Het
Zcchc6 T C 13: 59,814,903 D350G probably benign Het
Zmym2 A G 14: 56,950,327 E1150G possibly damaging Het
Other mutations in St6galnac3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:St6galnac3 APN 3 153509403 missense probably benign 0.00
IGL03144:St6galnac3 APN 3 153205527 missense probably damaging 1.00
R1606:St6galnac3 UTSW 3 153206668 missense probably benign 0.22
R4285:St6galnac3 UTSW 3 153206723 missense probably benign 0.01
R4722:St6galnac3 UTSW 3 153411529 missense probably damaging 1.00
R6088:St6galnac3 UTSW 3 153206715 missense probably damaging 1.00
R6488:St6galnac3 UTSW 3 153411757 missense probably damaging 1.00
R6967:St6galnac3 UTSW 3 153206708 missense probably damaging 1.00
R7073:St6galnac3 UTSW 3 153411637 missense possibly damaging 0.95
R7144:St6galnac3 UTSW 3 153411532 missense possibly damaging 0.81
R7680:St6galnac3 UTSW 3 153205410 missense probably damaging 1.00
R8016:St6galnac3 UTSW 3 153205492 missense probably damaging 1.00
R8151:St6galnac3 UTSW 3 153411580 missense probably damaging 1.00
R9209:St6galnac3 UTSW 3 153411723 missense possibly damaging 0.78
R9379:St6galnac3 UTSW 3 153509433 missense probably benign 0.00
R9603:St6galnac3 UTSW 3 153411540 missense probably benign 0.07
Z1176:St6galnac3 UTSW 3 153225702 missense probably null
Posted On 2016-08-02