Incidental Mutation 'R6027:St8sia4'
ID 480089
Institutional Source Beutler Lab
Gene Symbol St8sia4
Ensembl Gene ENSMUSG00000040710
Gene Name ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4
Synonyms PST-1, PST, Siat8d, ST8SiaIV
MMRRC Submission 044199-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6027 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 95515407-95595296 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95581399 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 114 (R114S)
Ref Sequence ENSEMBL: ENSMUSP00000140534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043336] [ENSMUST00000189556]
AlphaFold Q64692
Predicted Effect probably damaging
Transcript: ENSMUST00000043336
AA Change: R114S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043477
Gene: ENSMUSG00000040710
AA Change: R114S

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 damaging
Transcript: ENSMUST00000189556
AA Change: R114S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140534
Gene: ENSMUSG00000040710
AA Change: R114S

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Glyco_transf_29 90 266 2.2e-42 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.1%
Validation Efficiency 100% (68/68)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,289,003 (GRCm39) V2299A probably benign Het
Acacb A G 5: 114,303,661 (GRCm39) D28G probably benign Het
Adamts6 G A 13: 104,616,043 (GRCm39) G1035D probably damaging Het
Adamts7 A C 9: 90,073,078 (GRCm39) Y755S probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ank2 T C 3: 126,791,528 (GRCm39) T763A possibly damaging Het
Armc9 G C 1: 86,172,389 (GRCm39) L105F probably damaging Het
Asah2 T C 19: 32,022,351 (GRCm39) N228D probably benign Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Aspm T G 1: 139,390,794 (GRCm39) V693G probably damaging Het
Bptf T C 11: 106,965,771 (GRCm39) E1141G probably damaging Het
Col12a1 C T 9: 79,563,860 (GRCm39) probably null Het
Csmd2 G A 4: 128,453,739 (GRCm39) D3475N unknown Het
Dctn5 T C 7: 121,732,564 (GRCm39) probably benign Het
Dhrs4 A G 14: 55,723,580 (GRCm39) K18E probably benign Het
Eci2 A T 13: 35,169,930 (GRCm39) probably null Het
Efcab6 A G 15: 83,851,922 (GRCm39) F319L probably benign Het
Elane A T 10: 79,722,852 (GRCm39) H86L probably damaging Het
Endod1 A T 9: 14,268,893 (GRCm39) Y197* probably null Het
Eno4 A G 19: 58,935,262 (GRCm39) D158G probably damaging Het
Fam217a T A 13: 35,094,977 (GRCm39) T170S possibly damaging Het
Fbxo7 A G 10: 85,883,950 (GRCm39) D517G probably damaging Het
Fkbp3 G T 12: 65,120,692 (GRCm39) A2E possibly damaging Het
Gan A G 8: 117,885,034 (GRCm39) Y54C probably damaging Het
Gdap1l1 T A 2: 163,293,531 (GRCm39) N194K possibly damaging Het
Gnptab A G 10: 88,269,087 (GRCm39) T597A probably damaging Het
Hmcn1 A G 1: 150,678,646 (GRCm39) S492P possibly damaging Het
Hmox1 C A 8: 75,823,499 (GRCm39) H56N probably damaging Het
Kank3 C T 17: 34,037,088 (GRCm39) P131S possibly damaging Het
Kif14 T C 1: 136,410,797 (GRCm39) probably null Het
Kif1a A T 1: 92,953,365 (GRCm39) M1274K probably benign Het
Kmt2a A T 9: 44,730,587 (GRCm39) probably benign Het
Lypla1 T C 1: 4,907,299 (GRCm39) probably null Het
Man2b1 C T 8: 85,823,381 (GRCm39) T905I probably damaging Het
Mmp15 C A 8: 96,098,804 (GRCm39) H544N probably benign Het
Myh7 A T 14: 55,208,259 (GRCm39) N1933K probably benign Het
Ndst4 G T 3: 125,507,025 (GRCm39) A730S probably benign Het
Nmur1 G A 1: 86,315,053 (GRCm39) Q238* probably null Het
Nwd2 C T 5: 63,965,563 (GRCm39) P1716S possibly damaging Het
Or13c7c A G 4: 43,835,842 (GRCm39) V216A probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or8k38 T G 2: 86,488,148 (GRCm39) Y218S probably damaging Het
P2ry6 T G 7: 100,587,715 (GRCm39) M215L probably benign Het
Parp4 G A 14: 56,866,615 (GRCm39) E1060K probably benign Het
Pde10a A G 17: 9,183,509 (GRCm39) I822V possibly damaging Het
Pira13 T C 7: 3,827,638 (GRCm39) Y173C possibly damaging Het
Pkd1l1 C A 11: 8,866,272 (GRCm39) G528* probably null Het
Ptk2 T A 15: 73,101,762 (GRCm39) Q816L probably damaging Het
Ptprg T C 14: 12,220,613 (GRCm38) F442L possibly damaging Het
Qrfpr A G 3: 36,276,187 (GRCm39) Y68H probably benign Het
Ripk4 A G 16: 97,545,274 (GRCm39) W458R probably damaging Het
Ros1 G T 10: 52,040,064 (GRCm39) T309N possibly damaging Het
Rps27a T C 11: 29,497,808 (GRCm39) probably benign Het
Sarm1 T A 11: 78,374,384 (GRCm39) M577L probably benign Het
Scin T C 12: 40,127,515 (GRCm39) Y425C probably damaging Het
Serpina12 T A 12: 103,997,336 (GRCm39) Y395F probably benign Het
Sfxn2 T A 19: 46,571,291 (GRCm39) Y69* probably null Het
Skint6 T C 4: 112,953,761 (GRCm39) probably null Het
Slc7a1 A C 5: 148,270,774 (GRCm39) I564S possibly damaging Het
Smc6 T A 12: 11,356,179 (GRCm39) Y933N probably benign Het
Sp110 T C 1: 85,505,039 (GRCm39) S438G possibly damaging Het
Trim11 C T 11: 58,869,289 (GRCm39) A75V possibly damaging Het
Tufm T A 7: 126,086,920 (GRCm39) H68Q probably damaging Het
Ythdc2 T A 18: 44,993,503 (GRCm39) D194E probably benign 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
IGL03328:St8sia4 APN 1 95,588,595 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- TCTCAAAGAACAGCAGGATGC -3'
(R):5'- GCTGACAATTTAAGAGCAGTAGTTG -3'

Sequencing Primer
(F):5'- GCAGGATGCTCACCTTATTACAAAG -3'
(R):5'- TAGCATATACTGTGGTAGAAATGAGG -3'
Posted On 2017-06-26