Incidental Mutation 'IGL03328:St8sia4'
ID 416733
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol St8sia4
Ensembl Gene ENSMUSG00000040710
Gene Name ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4
Synonyms PST-1, PST, Siat8d, ST8SiaIV
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03328
Quality Score
Status
Chromosome 1
Chromosomal Location 95515407-95595296 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95588595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 80 (E80V)
Ref Sequence ENSEMBL: ENSMUSP00000043477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043336] [ENSMUST00000189556]
AlphaFold Q64692
Predicted Effect probably benign
Transcript: ENSMUST00000043336
AA Change: E80V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000043477
Gene: ENSMUSG00000040710
AA Change: E80V

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Glyco_transf_29 94 354 2.2e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187936
Predicted Effect probably benign
Transcript: ENSMUST00000189556
AA Change: E80V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000140534
Gene: ENSMUSG00000040710
AA Change: E80V

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Glyco_transf_29 90 266 2.2e-42 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 catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null adult mice exhibit impaired long term potentiation and impaired long term depression in hippocampal CA1 synapses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,211,355 (GRCm39) M1556L probably benign Het
Aicda T G 6: 122,539,396 (GRCm39) D187E probably benign Het
Arfgap3 A C 15: 83,227,282 (GRCm39) F43L probably damaging Het
AW551984 T C 9: 39,508,412 (GRCm39) E368G probably damaging Het
Bbs4 T C 9: 59,251,401 (GRCm39) E33G probably damaging Het
Bcas1 T A 2: 170,208,316 (GRCm39) K437* probably null Het
Brwd1 A T 16: 95,803,925 (GRCm39) W2082R probably damaging Het
Card6 A T 15: 5,134,927 (GRCm39) probably benign Het
Cd200r4 A G 16: 44,653,882 (GRCm39) I226M possibly damaging Het
Cep57l1 T C 10: 41,619,148 (GRCm39) E73G probably damaging Het
Chaf1a T G 17: 56,370,374 (GRCm39) F613C probably damaging Het
Clybl G T 14: 122,639,406 (GRCm39) K323N probably damaging Het
Coa7 A G 4: 108,195,479 (GRCm39) D136G probably damaging Het
Col5a2 C A 1: 45,415,306 (GRCm39) V1478L possibly damaging Het
Ctnnd2 T C 15: 30,921,993 (GRCm39) probably benign Het
Cyp4f17 T G 17: 32,739,600 (GRCm39) M174R probably damaging Het
Dnah10 A T 5: 124,831,354 (GRCm39) D794V probably benign Het
Eapp A G 12: 54,738,878 (GRCm39) S87P probably benign Het
Efnb3 A G 11: 69,448,031 (GRCm39) I137T probably damaging Het
Eif4e T A 3: 138,259,488 (GRCm39) probably benign Het
Fam83b T A 9: 76,400,324 (GRCm39) I260L probably benign Het
Fras1 A G 5: 96,929,619 (GRCm39) T4008A probably damaging Het
Fut8 A T 12: 77,412,003 (GRCm39) R118W probably damaging Het
Glt1d1 A C 5: 127,734,183 (GRCm39) D119A probably benign Het
Gm3727 T A 14: 7,261,685 (GRCm38) *206C probably null Het
Gmip G A 8: 70,264,261 (GRCm39) V174M possibly damaging Het
Gtf2ird1 A G 5: 134,417,983 (GRCm39) probably null Het
Haao C T 17: 84,154,078 (GRCm39) C23Y probably damaging Het
Hip1 A T 5: 135,453,728 (GRCm39) V400E probably damaging Het
Keg1 A G 19: 12,696,461 (GRCm39) N215S probably damaging Het
Lss T G 10: 76,376,785 (GRCm39) I334S probably damaging Het
Lyn A C 4: 3,745,327 (GRCm39) E77D probably benign Het
Myo3a A G 2: 22,468,210 (GRCm39) E1426G probably benign Het
Ncapg2 A G 12: 116,403,677 (GRCm39) E863G possibly damaging Het
Ncl T C 1: 86,280,319 (GRCm39) Y496C probably damaging Het
Nefm A T 14: 68,358,739 (GRCm39) S432T probably benign Het
Nipsnap1 A G 11: 4,834,096 (GRCm39) Y95C possibly damaging Het
Npc1l1 C A 11: 6,168,643 (GRCm39) E913* probably null Het
Nup205 T C 6: 35,209,349 (GRCm39) L1552P probably damaging Het
Or2t46 A G 11: 58,472,539 (GRCm39) N290D probably damaging Het
Or4c112 G T 2: 88,854,199 (GRCm39) Y49* probably null Het
Or52h7 T A 7: 104,213,677 (GRCm39) V83D probably damaging Het
Or7c70 C T 10: 78,683,201 (GRCm39) E183K probably benign Het
Osm A C 11: 4,188,426 (GRCm39) I18L unknown Het
Otoa T A 7: 120,710,217 (GRCm39) S254R probably damaging Het
Parp1 T C 1: 180,427,155 (GRCm39) probably benign Het
Pcdh17 A G 14: 84,770,551 (GRCm39) I1010V probably benign Het
Peli2 A T 14: 48,490,032 (GRCm39) probably null Het
Pkd1l3 T G 8: 110,388,738 (GRCm39) probably benign Het
Pkhd1 A G 1: 20,151,524 (GRCm39) probably benign Het
Polg2 A C 11: 106,659,163 (GRCm39) V450G probably benign Het
Potegl A T 2: 23,102,817 (GRCm39) Y185F possibly damaging Het
Ptpn13 A T 5: 103,664,214 (GRCm39) T401S probably benign Het
Rgs22 C T 15: 36,043,350 (GRCm39) probably null Het
Rttn T G 18: 89,061,152 (GRCm39) S1107A probably benign Het
Scn5a G T 9: 119,366,702 (GRCm39) N328K probably benign Het
Sned1 G A 1: 93,217,089 (GRCm39) A1325T probably benign Het
Stard7 T C 2: 127,134,176 (GRCm39) probably benign Het
Suco G T 1: 161,647,990 (GRCm39) P1099T probably damaging Het
Syn2 G T 6: 115,251,221 (GRCm39) C459F probably damaging Het
Tas2r117 A C 6: 132,780,041 (GRCm39) I60L probably benign Het
Tomm70a T C 16: 56,965,150 (GRCm39) C445R probably damaging Het
Tpsab1 T A 17: 25,564,102 (GRCm39) D87V probably benign Het
Trgc4 A G 13: 19,536,416 (GRCm39) Y158C unknown Het
Trpm6 A T 19: 18,815,446 (GRCm39) E1177D possibly damaging Het
Vmn2r71 A T 7: 85,273,499 (GRCm39) D771V probably damaging Het
Vmn2r93 A T 17: 18,525,220 (GRCm39) T293S probably damaging Het
Other mutations in St8sia4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01566:St8sia4 APN 1 95,581,482 (GRCm39) missense probably benign 0.19
IGL02109:St8sia4 APN 1 95,588,617 (GRCm39) missense possibly damaging 0.68
IGL03117:St8sia4 APN 1 95,519,508 (GRCm39) missense probably benign 0.12
IGL03280:St8sia4 APN 1 95,581,499 (GRCm39) splice site probably benign
R0336:St8sia4 UTSW 1 95,581,283 (GRCm39) missense probably benign 0.36
R0433:St8sia4 UTSW 1 95,519,429 (GRCm39) missense probably damaging 0.97
R1217:St8sia4 UTSW 1 95,581,464 (GRCm39) missense probably damaging 1.00
R1721:St8sia4 UTSW 1 95,581,394 (GRCm39) missense probably damaging 0.99
R1752:St8sia4 UTSW 1 95,519,537 (GRCm39) missense probably benign 0.32
R1891:St8sia4 UTSW 1 95,519,433 (GRCm39) missense possibly damaging 0.93
R1909:St8sia4 UTSW 1 95,555,298 (GRCm39) missense probably damaging 1.00
R2098:St8sia4 UTSW 1 95,581,253 (GRCm39) missense probably damaging 1.00
R2322:St8sia4 UTSW 1 95,581,463 (GRCm39) missense probably damaging 1.00
R4094:St8sia4 UTSW 1 95,555,411 (GRCm39) missense possibly damaging 0.53
R4365:St8sia4 UTSW 1 95,519,517 (GRCm39) missense possibly damaging 0.89
R4852:St8sia4 UTSW 1 95,588,623 (GRCm39) missense probably damaging 1.00
R4988:St8sia4 UTSW 1 95,519,522 (GRCm39) missense possibly damaging 0.95
R5074:St8sia4 UTSW 1 95,594,910 (GRCm39) missense probably benign 0.29
R5220:St8sia4 UTSW 1 95,555,460 (GRCm39) missense probably damaging 0.97
R5611:St8sia4 UTSW 1 95,555,409 (GRCm39) missense probably damaging 0.96
R5970:St8sia4 UTSW 1 95,581,307 (GRCm39) missense probably damaging 1.00
R6027:St8sia4 UTSW 1 95,581,399 (GRCm39) missense probably damaging 1.00
R6683:St8sia4 UTSW 1 95,581,424 (GRCm39) missense probably damaging 1.00
R7498:St8sia4 UTSW 1 95,519,418 (GRCm39) missense probably benign
R7937:St8sia4 UTSW 1 95,581,320 (GRCm39) missense possibly damaging 0.56
R8775:St8sia4 UTSW 1 95,519,472 (GRCm39) missense possibly damaging 0.93
R8775-TAIL:St8sia4 UTSW 1 95,519,472 (GRCm39) missense possibly damaging 0.93
R9095:St8sia4 UTSW 1 95,519,525 (GRCm39) missense probably damaging 0.99
R9252:St8sia4 UTSW 1 95,555,232 (GRCm39) frame shift probably null
R9433:St8sia4 UTSW 1 95,555,364 (GRCm39) missense
X0063:St8sia4 UTSW 1 95,519,648 (GRCm39) missense possibly damaging 0.92
Z1177:St8sia4 UTSW 1 95,595,181 (GRCm39) start gained probably benign
Posted On 2016-08-02