Incidental Mutation 'IGL01448:St3gal4'
ID 84505
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 # IGL01448
Quality Score
Status
Chromosome 9
Chromosomal Location 34957872-35028160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34963627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 227 (K227R)
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 probably benign
Transcript: ENSMUST00000034537
AA Change: K227R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034537
Gene: ENSMUSG00000032038
AA Change: K227R

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A T 2: 130,247,767 (GRCm39) E75D possibly damaging Het
1700084J12Rik A G 15: 33,405,779 (GRCm39) probably benign Het
2610303G11Rik T A 9: 98,068,762 (GRCm39) noncoding transcript Het
4931414P19Rik T C 14: 54,823,417 (GRCm39) D320G possibly damaging Het
Adamts6 G A 13: 104,433,672 (GRCm39) E34K probably damaging Het
Alms1 T A 6: 85,654,881 (GRCm39) N3142K possibly damaging Het
Anapc7 G A 5: 122,566,276 (GRCm39) A62T probably damaging Het
Atp8b3 G A 10: 80,356,256 (GRCm39) P1152L probably benign Het
Cc2d2a C T 5: 43,841,527 (GRCm39) T181I possibly damaging Het
Celsr2 A G 3: 108,300,555 (GRCm39) L2835P probably damaging Het
Ctns A T 11: 73,079,548 (GRCm39) V99D possibly damaging Het
Dchs1 T C 7: 105,421,134 (GRCm39) R429G probably damaging Het
Ddx11 T C 17: 66,441,132 (GRCm39) V218A probably damaging Het
Eftud2 G A 11: 102,756,389 (GRCm39) probably benign Het
Erich1 G T 8: 14,128,853 (GRCm39) T29N possibly damaging Het
Exosc8 T C 3: 54,636,686 (GRCm39) E215G probably damaging Het
Fam184a G T 10: 53,575,045 (GRCm39) A188E probably benign Het
Fign A G 2: 63,810,032 (GRCm39) S413P probably damaging Het
Fkbp6 A G 5: 135,378,550 (GRCm39) S33P probably damaging Het
Glb1 A G 9: 114,279,745 (GRCm39) probably benign Het
H2-Q1 T C 17: 35,542,437 (GRCm39) probably benign Het
Helz2 T C 2: 180,875,770 (GRCm39) T1575A probably damaging Het
Il18r1 A G 1: 40,513,890 (GRCm39) E32G probably damaging Het
Ints5 C T 19: 8,872,851 (GRCm39) P270L possibly damaging Het
Itga7 G T 10: 128,785,337 (GRCm39) E847* probably null Het
Kcns3 A C 12: 11,141,644 (GRCm39) S352A possibly damaging Het
Kiz A G 2: 146,705,721 (GRCm39) K94E probably benign Het
Lin7b C T 7: 45,018,624 (GRCm39) V12M probably damaging Het
Myo18b A T 5: 112,959,570 (GRCm39) I1409N probably damaging Het
Myo5b A G 18: 74,777,161 (GRCm39) H407R probably damaging Het
Nelfa T C 5: 34,056,146 (GRCm39) T506A probably damaging Het
Or10p21 A G 10: 128,847,729 (GRCm39) T192A probably damaging Het
Or4d5 A T 9: 40,012,378 (GRCm39) M136K probably damaging Het
Or5p72 T A 7: 108,022,235 (GRCm39) Y152* probably null Het
Or6c69 A G 10: 129,748,114 (GRCm39) I11T possibly damaging Het
Pclo A C 5: 14,726,408 (GRCm39) probably benign Het
Pes1 G A 11: 3,927,979 (GRCm39) E544K possibly damaging Het
Rabgap1l A G 1: 160,568,315 (GRCm39) probably benign Het
Rapgef2 T C 3: 78,976,244 (GRCm39) M1521V probably benign Het
Rapgef2 C T 3: 79,011,269 (GRCm39) probably null Het
Reln A G 5: 22,245,403 (GRCm39) V735A probably benign Het
Slc2a4 A G 11: 69,835,902 (GRCm39) S316P possibly damaging Het
Smarce1 C T 11: 99,101,013 (GRCm39) G373E possibly damaging Het
Spata31d1a T A 13: 59,849,373 (GRCm39) R918S probably benign Het
Stra6l T A 4: 45,864,864 (GRCm39) probably null Het
Stxbp5l T C 16: 37,036,341 (GRCm39) I425V probably damaging Het
Tcaf2 T C 6: 42,607,262 (GRCm39) T231A probably benign Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tnks A G 8: 35,307,136 (GRCm39) Y1138H probably damaging Het
Vezt T A 10: 93,832,719 (GRCm39) I231F probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Zbed3 A G 13: 95,473,142 (GRCm39) K189E possibly damaging Het
Zfp512b T C 2: 181,229,578 (GRCm39) T625A possibly damaging Het
Zfp827 A T 8: 79,787,362 (GRCm39) Q176L possibly damaging Het
Other mutations in St3gal4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00691:St3gal4 APN 9 34,964,365 (GRCm39) unclassified probably benign
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 2013-11-11