Incidental Mutation 'IGL01566:St8sia4'
ID90985
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol St8sia4
Ensembl Gene ENSMUSG00000040710
Gene NameST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4
SynonymsST8SiaIV, PST, Siat8d, PST-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01566
Quality Score
Status
Chromosome1
Chromosomal Location95587682-95667571 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 95653757 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 87 (R87S)
Ref Sequence ENSEMBL: ENSMUSP00000140534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043336] [ENSMUST00000189556]
Predicted Effect probably benign
Transcript: ENSMUST00000043336
AA Change: R87S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000043477
Gene: ENSMUSG00000040710
AA Change: R87S

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Glyco_transf_29 94 354 2.2e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187936
Predicted Effect probably benign
Transcript: ENSMUST00000189556
AA Change: R87S

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000140534
Gene: ENSMUSG00000040710
AA Change: R87S

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931417E11Rik G A 6: 73,468,690 T292I probably damaging Het
AB124611 T C 9: 21,535,989 V149A possibly damaging Het
Casc3 T C 11: 98,823,401 probably null Het
Dhdds T C 4: 133,991,337 I162V probably damaging Het
Dsg1a T C 18: 20,336,783 probably benign Het
E030025P04Rik T A 11: 109,143,888 D58V unknown Het
Gcn1l1 A G 5: 115,611,058 N1883S probably damaging Het
Gucy1a2 T C 9: 3,634,661 L235P probably damaging Het
Kprp T C 3: 92,823,964 N593S probably benign Het
Mme T C 3: 63,361,929 probably benign Het
Nr6a1 G T 2: 38,727,889 Q419K probably benign Het
Pcolce A G 5: 137,605,160 probably benign Het
Ppp2cb C A 8: 33,611,763 R110S probably benign Het
Slc35f1 A G 10: 53,089,455 Y322C probably damaging Het
Slc5a3 T C 16: 92,077,577 V174A probably damaging Het
Tfdp2 A G 9: 96,295,030 E5G probably damaging Het
Tmem161b T C 13: 84,294,762 I267T probably benign Het
Ttn A G 2: 76,952,021 L957P probably damaging Het
Ttn A G 2: 76,782,101 probably benign Het
Ubqln1 A T 13: 58,179,667 probably null Het
Wdfy3 A C 5: 101,896,588 probably benign Het
Other mutations in St8sia4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02109:St8sia4 APN 1 95660892 missense possibly damaging 0.68
IGL03117:St8sia4 APN 1 95591783 missense probably benign 0.12
IGL03280:St8sia4 APN 1 95653774 splice site probably benign
IGL03328:St8sia4 APN 1 95660870 missense probably benign 0.01
R0336:St8sia4 UTSW 1 95653558 missense probably benign 0.36
R0433:St8sia4 UTSW 1 95591704 missense probably damaging 0.97
R1217:St8sia4 UTSW 1 95653739 missense probably damaging 1.00
R1721:St8sia4 UTSW 1 95653669 missense probably damaging 0.99
R1752:St8sia4 UTSW 1 95591812 missense probably benign 0.32
R1891:St8sia4 UTSW 1 95591708 missense possibly damaging 0.93
R1909:St8sia4 UTSW 1 95627573 missense probably damaging 1.00
R2098:St8sia4 UTSW 1 95653528 missense probably damaging 1.00
R2322:St8sia4 UTSW 1 95653738 missense probably damaging 1.00
R4094:St8sia4 UTSW 1 95627686 missense possibly damaging 0.53
R4365:St8sia4 UTSW 1 95591792 missense possibly damaging 0.89
R4852:St8sia4 UTSW 1 95660898 missense probably damaging 1.00
R4988:St8sia4 UTSW 1 95591797 missense possibly damaging 0.95
R5074:St8sia4 UTSW 1 95667185 missense probably benign 0.29
R5220:St8sia4 UTSW 1 95627735 missense probably damaging 0.97
R5611:St8sia4 UTSW 1 95627684 missense probably damaging 0.96
R5970:St8sia4 UTSW 1 95653582 missense probably damaging 1.00
R6027:St8sia4 UTSW 1 95653674 missense probably damaging 1.00
R6683:St8sia4 UTSW 1 95653699 missense probably damaging 1.00
R7498:St8sia4 UTSW 1 95591693 missense probably benign
R7937:St8sia4 UTSW 1 95653595 missense possibly damaging 0.56
X0063:St8sia4 UTSW 1 95591923 missense possibly damaging 0.92
Z1177:St8sia4 UTSW 1 95667456 start gained probably benign
Posted On2013-12-09