Incidental Mutation 'IGL01770:St3gal4'
ID 153829
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: 0.066) question?
Stock # IGL01770
Quality Score
Status
Chromosome 9
Chromosomal Location 34957872-35028160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 34963601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 236 (F236V)
Ref Sequence ENSEMBL: ENSMUSP00000034537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034537] [ENSMUST00000213526] [ENSMUST00000214526] [ENSMUST00000215089] [ENSMUST00000215463] [ENSMUST00000215638] [ENSMUST00000216557] [ENSMUST00000217149] [ENSMUST00000217542]
AlphaFold Q91Y74
Predicted Effect possibly damaging
Transcript: ENSMUST00000034537
AA Change: F236V

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034537
Gene: ENSMUSG00000032038
AA Change: F236V

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: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss2 T C 1: 177,604,075 (GRCm39) S177G possibly damaging Het
Fbxw2 G A 2: 34,701,038 (GRCm39) T194I possibly damaging Het
Il16 A T 7: 83,322,234 (GRCm39) probably benign Het
Klra5 A T 6: 129,883,627 (GRCm39) C77S probably damaging Het
Mterf4 G A 1: 93,232,716 (GRCm39) T45I probably damaging Het
Or1j17 G A 2: 36,578,117 (GRCm39) M34I probably benign Het
Pcdhb2 T G 18: 37,429,356 (GRCm39) V86G probably damaging Het
Pkd1l3 A G 8: 110,375,134 (GRCm39) probably null Het
Prrc2c A T 1: 162,532,068 (GRCm39) S1516T probably benign Het
Shisa3 G A 5: 67,768,408 (GRCm39) G103S probably damaging Het
Vmn1r57 A G 7: 5,223,667 (GRCm39) D64G possibly damaging Het
Vmn2r98 A G 17: 19,286,702 (GRCm39) Y400C probably damaging Het
Other mutations in St3gal4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00691:St3gal4 APN 9 34,964,365 (GRCm39) unclassified probably benign
IGL01448:St3gal4 APN 9 34,963,627 (GRCm39) missense probably benign 0.00
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 2014-02-04