Incidental Mutation 'IGL00691:St3gal4'
ID 14249
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol St3gal4
Ensembl Gene ENSMUSG00000032038
Gene Name ST3 beta-galactoside alpha-2,3-sialyltransferase 4
Synonyms ST3Gal IV, Siat4c
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL00691
Quality Score
Status
Chromosome 9
Chromosomal Location 34957872-35028160 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 34964365 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q91Y74
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
Acvr1 T C 2: 58,337,585 (GRCm39) D499G probably benign Het
Agl G T 3: 116,572,907 (GRCm39) Q811K possibly damaging Het
Col6a4 C A 9: 105,934,606 (GRCm39) G1435C probably damaging Het
Dhx15 T C 5: 52,327,435 (GRCm39) Y303C probably damaging Het
Ebag9 A G 15: 44,490,987 (GRCm39) I40V probably damaging Het
Garre1 C T 7: 33,944,910 (GRCm39) V657M probably damaging Het
Lrrd1 T G 5: 3,913,929 (GRCm39) I733S probably damaging Het
Mroh8 T C 2: 157,080,227 (GRCm39) probably benign Het
Nr3c2 C T 8: 77,636,219 (GRCm39) S440F possibly damaging Het
Tle2 A G 10: 81,417,573 (GRCm39) D246G probably benign Het
Vipr2 A G 12: 116,102,368 (GRCm39) probably null Het
Zfp711 G A X: 111,534,508 (GRCm39) R284Q probably damaging Het
Zzz3 C A 3: 152,134,151 (GRCm39) T403K probably benign Het
Other mutations in St3gal4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:St3gal4 APN 9 34,963,627 (GRCm39) missense probably benign 0.00
IGL01770:St3gal4 APN 9 34,963,601 (GRCm39) missense possibly damaging 0.73
IGL02862:St3gal4 APN 9 34,963,543 (GRCm39) missense probably benign 0.32
fuji UTSW 9 34,964,469 (GRCm39) nonsense probably null
Granny_smith UTSW 9 34,964,558 (GRCm39) missense probably damaging 1.00
Pomology UTSW 9 34,964,375 (GRCm39) missense possibly damaging 0.67
R0362:St3gal4 UTSW 9 34,964,469 (GRCm39) nonsense probably null
R0863:St3gal4 UTSW 9 34,964,744 (GRCm39) missense probably damaging 1.00
R1457:St3gal4 UTSW 9 34,966,053 (GRCm39) missense possibly damaging 0.66
R1530:St3gal4 UTSW 9 34,963,592 (GRCm39) missense probably benign 0.00
R4991:St3gal4 UTSW 9 34,964,432 (GRCm39) missense possibly damaging 0.93
R5452:St3gal4 UTSW 9 34,964,752 (GRCm39) missense probably damaging 1.00
R6277:St3gal4 UTSW 9 34,964,558 (GRCm39) missense probably damaging 1.00
R7564:St3gal4 UTSW 9 34,963,549 (GRCm39) missense probably benign 0.09
R7725:St3gal4 UTSW 9 34,964,375 (GRCm39) missense possibly damaging 0.67
R8080:St3gal4 UTSW 9 35,017,617 (GRCm39) splice site probably null
R8356:St3gal4 UTSW 9 34,964,438 (GRCm39) missense probably damaging 1.00
R8936:St3gal4 UTSW 9 34,964,723 (GRCm39) missense probably damaging 1.00
R8984:St3gal4 UTSW 9 34,966,944 (GRCm39) missense possibly damaging 0.90
R9258:St3gal4 UTSW 9 34,963,643 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06