Incidental Mutation 'R5970:St8sia4'
ID 470785
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 044153-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5970 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 95515407-95595296 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95581307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 145 (V145A)
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: V145A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043477
Gene: ENSMUSG00000040710
AA Change: V145A

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: V145A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140534
Gene: ENSMUSG00000040710
AA Change: V145A

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Glyco_transf_29 90 266 2.2e-42 PFAM
Meta Mutation Damage Score 0.9584 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 98% (63/64)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l1 G A 6: 90,574,028 (GRCm39) probably benign Het
Ambn T C 5: 88,615,810 (GRCm39) V413A possibly damaging Het
Amotl1 T A 9: 14,507,824 (GRCm39) D41V probably damaging Het
Arhgef26 T C 3: 62,247,468 (GRCm39) V184A probably benign Het
Birc6 G T 17: 74,925,497 (GRCm39) G936V possibly damaging Het
Ccser1 T A 6: 61,288,226 (GRCm39) S130T possibly damaging Het
Cecr2 A G 6: 120,697,868 (GRCm39) I56V probably damaging Het
Cfap52 A G 11: 67,821,570 (GRCm39) I486T probably damaging Het
Col4a3 A G 1: 82,694,050 (GRCm39) I1557V possibly damaging Het
Col6a5 T A 9: 105,823,046 (GRCm39) I104F unknown Het
Cry2 A G 2: 92,243,312 (GRCm39) S510P probably benign Het
Csmd2 G C 4: 128,439,944 (GRCm39) A3133P probably benign Het
Cyld G T 8: 89,459,621 (GRCm39) A611S probably damaging Het
Dennd4c G A 4: 86,743,749 (GRCm39) G1197E probably damaging Het
Dnah10 T C 5: 124,885,793 (GRCm39) F2969L probably benign Het
Dnai1 A G 4: 41,625,281 (GRCm39) K415R probably benign Het
Dnmbp T A 19: 43,842,610 (GRCm39) T1253S probably benign Het
Dsp T C 13: 38,379,678 (GRCm39) L1542P possibly damaging Het
Duox1 T A 2: 122,170,682 (GRCm39) L1234Q probably damaging Het
Efr3b T A 12: 4,018,590 (GRCm39) R585S possibly damaging Het
Gpt A G 15: 76,583,552 (GRCm39) probably null Het
Heatr6 G A 11: 83,644,544 (GRCm39) probably benign Het
Kcns2 A G 15: 34,839,930 (GRCm39) D431G probably benign Het
Kdm3b A G 18: 34,962,342 (GRCm39) N1543D probably damaging Het
Man2a1 A G 17: 64,932,375 (GRCm39) K154R probably benign Het
Mical3 G A 6: 120,935,232 (GRCm39) Q893* probably null Het
Morc3 C T 16: 93,663,341 (GRCm39) H515Y possibly damaging Het
Mprip A T 11: 59,648,547 (GRCm39) R750S probably damaging Het
Mroh1 G A 15: 76,335,691 (GRCm39) V1436M probably benign Het
Muc5ac C T 7: 141,344,406 (GRCm39) R69* probably null Het
Muc5b A T 7: 141,410,449 (GRCm39) Y1274F unknown Het
Mybpc1 A G 10: 88,378,318 (GRCm39) L674P probably damaging Het
Mypn A G 10: 62,966,802 (GRCm39) V958A probably benign Het
Nipbl T C 15: 8,326,302 (GRCm39) T2436A probably benign Het
Or7g20 A G 9: 18,946,443 (GRCm39) D8G probably benign Het
Pcdhb5 T A 18: 37,454,826 (GRCm39) L402Q probably damaging Het
Pigp T A 16: 94,171,053 (GRCm39) probably null Het
Rp1 A G 1: 4,418,685 (GRCm39) L809P probably benign Het
Scn3a T A 2: 65,325,125 (GRCm39) probably benign Het
Sdf2 A T 11: 78,136,906 (GRCm39) M29L probably benign Het
Serpina3b T G 12: 104,100,350 (GRCm39) L311V possibly damaging Het
Snx31 A T 15: 36,523,634 (GRCm39) Y349* probably null Het
Spidr A C 16: 15,932,733 (GRCm39) C182W probably damaging Het
St13 A T 15: 81,261,999 (GRCm39) S146R probably damaging Het
Stradb T C 1: 59,019,175 (GRCm39) probably null Het
Tcp11l2 T A 10: 84,430,661 (GRCm39) probably benign Het
Tfdp2 C T 9: 96,199,627 (GRCm39) P74S unknown Het
Tmprss15 C T 16: 78,854,547 (GRCm39) R287H probably benign Het
Trav10d T C 14: 53,048,779 (GRCm39) Y57H probably damaging Het
Vmn2r104 A G 17: 20,249,733 (GRCm39) I846T probably benign Het
Ywhah T A 5: 33,184,292 (GRCm39) M165K possibly damaging Het
Zfp324 C A 7: 12,703,293 (GRCm39) P72T 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
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
Predicted Primers PCR Primer
(F):5'- CCACATAAATGGTGACGTTCTCAATC -3'
(R):5'- GCTTTGCTTGCATTCCAAATAC -3'

Sequencing Primer
(F):5'- GGTGACGTTCTCAATCATTCTTAATG -3'
(R):5'- ATTCTTCGTTTCTTAGATGCGGAAC -3'
Posted On 2017-03-31