Incidental Mutation 'IGL00694:St3gal2'
ID14248
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 #IGL00694
Quality Score
Status
Chromosome8
Chromosomal Location110919922-110972480 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 110969581 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 266 (H266L)
Ref Sequence ENSEMBL: ENSMUSP00000113900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034197] [ENSMUST00000117534]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034197
AA Change: H266L

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000034197
Gene: ENSMUSG00000031749
AA Change: H266L

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Glyco_transf_29 94 349 3.8e-80 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117534
AA Change: H266L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113900
Gene: ENSMUSG00000031749
AA Change: H266L

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931423N10Rik A T 2: 23,230,168 Q192L probably damaging Het
Adgrl4 T C 3: 151,439,396 probably benign Het
Aqr A T 2: 114,151,525 D259E probably damaging Het
Arl14ep A T 2: 106,967,192 F153L probably damaging Het
Asb15 G T 6: 24,570,664 R547L possibly damaging Het
Chd8 A C 14: 52,217,970 V1020G probably damaging Het
Coq2 C T 5: 100,655,314 S370N probably benign Het
Crebl2 T A 6: 134,849,195 S36R probably damaging Het
Cyp2c29 A T 19: 39,321,635 T263S possibly damaging Het
Edem1 T C 6: 108,841,601 I190T possibly damaging Het
Fbn2 T G 18: 58,037,809 E2170A possibly damaging Het
Gak T G 5: 108,613,634 *129C probably null Het
Gm13101 G T 4: 143,965,822 P203Q possibly damaging Het
Hc T C 2: 34,991,629 I1436V probably benign Het
Kmt2c A T 5: 25,293,161 F534I probably damaging Het
Mfhas1 G A 8: 35,590,771 R800Q probably benign Het
Npat A G 9: 53,563,517 T870A probably benign Het
Pde8a T C 7: 81,306,708 V285A possibly damaging Het
Slc25a26 T A 6: 94,534,223 I127N probably damaging Het
Spag1 A T 15: 36,227,171 E658V possibly damaging Het
Sult6b2 A G 6: 142,790,289 I193T possibly damaging Het
Tas2r120 T C 6: 132,657,275 F107L probably benign Het
Thoc1 A G 18: 9,989,744 D475G possibly damaging Het
Tpo T A 12: 30,105,994 R169S probably damaging Het
Zhx2 A G 15: 57,821,760 N175S probably benign Het
Other mutations in St3gal2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02004:St3gal2 APN 8 110970172 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 On2012-12-06