Incidental Mutation 'IGL00691:St3gal4'
ID14249
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol St3gal4
Ensembl Gene ENSMUSG00000032038
Gene NameST3 beta-galactoside alpha-2,3-sialyltransferase 4
SynonymsST3Gal IV, Siat4c
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.109) question?
Stock #IGL00691
Quality Score
Status
Chromosome9
Chromosomal Location35046576-35119268 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 35053069 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034537] [ENSMUST00000213526] [ENSMUST00000214526] [ENSMUST00000215089] [ENSMUST00000215463] [ENSMUST00000215638] [ENSMUST00000216557] [ENSMUST00000217149] [ENSMUST00000217542]
Predicted Effect probably benign
Transcript: ENSMUST00000034537
SMART Domains Protein: ENSMUSP00000034537
Gene: ENSMUSG00000032038

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:Glyco_transf_29 70 332 4.1e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213526
Predicted Effect probably benign
Transcript: ENSMUST00000214526
Predicted Effect probably benign
Transcript: ENSMUST00000215089
Predicted Effect probably benign
Transcript: ENSMUST00000215463
Predicted Effect probably benign
Transcript: ENSMUST00000215638
Predicted Effect probably benign
Transcript: ENSMUST00000216557
Predicted Effect probably benign
Transcript: ENSMUST00000217149
Predicted Effect probably benign
Transcript: ENSMUST00000217542
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycosyltransferase 29 family, a group of enzymes involved in protein glycosylation. The encoded protein is targeted to Golgi membranes but may be proteolytically processed and secreted. The gene product may also be involved in the increased expression of sialyl Lewis X antigen seen in inflammatory responses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygotes for a null allele show thrombocytopenia, altered platelet physiology, increased bleeding times, and abnormal leukocyte migration. Homozygotes for a different null allele fail to develop seizures in response to kindling, and show anxiety-like behaviors and altered sleep patterns. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik C T 7: 34,245,485 V657M probably damaging Het
Acvr1 T C 2: 58,447,573 D499G probably benign Het
Agl G T 3: 116,779,258 Q811K possibly damaging Het
Col6a4 C A 9: 106,057,407 G1435C probably damaging Het
Dhx15 T C 5: 52,170,093 Y303C probably damaging Het
Ebag9 A G 15: 44,627,591 I40V probably damaging Het
Lrrd1 T G 5: 3,863,929 I733S probably damaging Het
Mroh8 T C 2: 157,238,307 probably benign Het
Nr3c2 C T 8: 76,909,590 S440F possibly damaging Het
Tle2 A G 10: 81,581,739 D246G probably benign Het
Vipr2 A G 12: 116,138,748 probably null Het
Zfp711 G A X: 112,624,811 R284Q probably damaging Het
Zzz3 C A 3: 152,428,514 T403K probably benign Het
Other mutations in St3gal4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:St3gal4 APN 9 35052331 missense probably benign 0.00
IGL01770:St3gal4 APN 9 35052305 missense possibly damaging 0.73
IGL02862:St3gal4 APN 9 35052247 missense probably benign 0.32
fuji UTSW 9 35053173 nonsense probably null
Granny_smith UTSW 9 35053262 missense probably damaging 1.00
R0362:St3gal4 UTSW 9 35053173 nonsense probably null
R0863:St3gal4 UTSW 9 35053448 missense probably damaging 1.00
R1457:St3gal4 UTSW 9 35054757 missense possibly damaging 0.66
R1530:St3gal4 UTSW 9 35052296 missense probably benign 0.00
R4991:St3gal4 UTSW 9 35053136 missense possibly damaging 0.93
R5452:St3gal4 UTSW 9 35053456 missense probably damaging 1.00
R6277:St3gal4 UTSW 9 35053262 missense probably damaging 1.00
R7564:St3gal4 UTSW 9 35052253 missense probably benign 0.09
R7725:St3gal4 UTSW 9 35053079 missense possibly damaging 0.67
Posted On2012-12-06