Incidental Mutation 'IGL02004:St3gal2'
ID182226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol St3gal2
Ensembl Gene ENSMUSG00000031749
Gene NameST3 beta-galactoside alpha-2,3-sialyltransferase 2
SynonymsST3GalII, Siat5
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02004
Quality Score
Status
Chromosome8
Chromosomal Location110919922-110972480 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 110970172 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 317 (A317E)
Ref Sequence ENSEMBL: ENSMUSP00000034197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034197] [ENSMUST00000040416] [ENSMUST00000117534]
Predicted Effect probably damaging
Transcript: ENSMUST00000034197
AA Change: A317E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034197
Gene: ENSMUSG00000031749
AA Change: A317E

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Glyco_transf_29 94 349 3.8e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040416
SMART Domains Protein: ENSMUSP00000047898
Gene: ENSMUSG00000015023

DomainStartEndE-ValueType
low complexity region 39 53 N/A INTRINSIC
DEXDc 110 309 8.58e-44 SMART
HELICc 346 433 2.59e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117534
SMART Domains Protein: ENSMUSP00000113900
Gene: ENSMUSG00000031749

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Glyco_transf_29 90 296 7.2e-82 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi but can be proteolytically processed to a soluble form. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4A. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene apparently display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G T 11: 72,191,597 A301E possibly damaging Het
C4b A T 17: 34,739,010 probably benign Het
Cep85 A G 4: 134,167,387 V36A probably damaging Het
Cnot10 A T 9: 114,622,930 F259L probably damaging Het
Crim1 T C 17: 78,372,575 probably benign Het
Crispld1 G A 1: 17,747,520 A216T probably damaging Het
Cyp8b1 T C 9: 121,914,992 I425V probably benign Het
Fat2 A T 11: 55,282,840 V2349D probably damaging Het
Fer G T 17: 63,924,179 probably null Het
Galnt3 T C 2: 66,095,926 T313A probably damaging Het
Gm4450 T A 3: 98,456,419 R37W probably damaging Het
Igkv10-94 A T 6: 68,704,944 L12* probably null Het
Kcnj3 G A 2: 55,437,231 D11N probably benign Het
Kit T A 5: 75,621,014 S368T probably benign Het
Mark1 G A 1: 184,912,589 S390L possibly damaging Het
Mpped1 C A 15: 83,800,156 S126R probably damaging Het
Myh15 A C 16: 49,110,529 probably benign Het
Nat1 G A 8: 67,491,226 E85K probably benign Het
Olfr1500 T C 19: 13,828,063 D111G possibly damaging Het
Pde3b A T 7: 114,519,617 M664L possibly damaging Het
Phrf1 A G 7: 141,260,333 D1147G probably benign Het
Pth1r G T 9: 110,742,308 probably benign Het
Shank3 C T 15: 89,503,299 probably benign Het
Slc39a7 A C 17: 34,031,121 probably benign Het
Slc6a1 A G 6: 114,314,325 T520A probably benign Het
St3gal3 C A 4: 117,960,039 L139F possibly damaging Het
Sval3 T A 6: 41,972,842 probably benign Het
Syvn1 G A 19: 6,052,407 A502T probably benign Het
Tm4sf1 T C 3: 57,293,078 I68V possibly damaging Het
Tnrc6a T A 7: 123,181,366 N1326K possibly damaging Het
Tvp23b G A 11: 62,892,000 C174Y probably damaging Het
Zfp750 T C 11: 121,512,149 D591G probably benign Het
Other mutations in St3gal2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00694:St3gal2 APN 8 110969581 missense probably damaging 1.00
IGL02270:St3gal2 APN 8 110957766 missense probably benign
R0546:St3gal2 UTSW 8 110970106 splice site probably null
R3695:St3gal2 UTSW 8 110962341 missense probably damaging 1.00
R4297:St3gal2 UTSW 8 110962359 missense probably benign 0.00
R4298:St3gal2 UTSW 8 110962359 missense probably benign 0.00
R4299:St3gal2 UTSW 8 110962359 missense probably benign 0.00
R4464:St3gal2 UTSW 8 110967502 missense probably benign 0.09
R4691:St3gal2 UTSW 8 110957785 missense probably benign 0.13
R4831:St3gal2 UTSW 8 110957848 missense probably benign 0.17
R5072:St3gal2 UTSW 8 110957718 missense possibly damaging 0.95
R5992:St3gal2 UTSW 8 110969553 missense probably damaging 1.00
R8493:St3gal2 UTSW 8 110962221 missense probably damaging 1.00
Posted On2014-05-07