Incidental Mutation 'PIT4498001:St8sia1'
ID 556064
Institutional Source Beutler Lab
Gene Symbol St8sia1
Ensembl Gene ENSMUSG00000030283
Gene Name ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1
Synonyms GD3S, GD3 synthase, Siat8, ST8Sia I, alpha-2,8-sialyltransferase, Siat8a, 9330109E03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # PIT4498001 (G1)
Quality Score 200.009
Status Not validated
Chromosome 6
Chromosomal Location 142767271-142910178 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142859848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 94 (T94A)
Ref Sequence ENSEMBL: ENSMUSP00000032421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032421] [ENSMUST00000205149]
AlphaFold Q64687
Predicted Effect probably damaging
Transcript: ENSMUST00000032421
AA Change: T94A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032421
Gene: ENSMUSG00000030283
AA Change: T94A

transmembrane domain 27 49 N/A INTRINSIC
Pfam:Glyco_transf_29 90 344 8.1e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205149
SMART Domains Protein: ENSMUSP00000145148
Gene: ENSMUSG00000030283

transmembrane domain 27 49 N/A INTRINSIC
transmembrane domain 76 95 N/A INTRINSIC
Coding Region Coverage
  • 1x: 93.2%
  • 3x: 91.0%
  • 10x: 86.1%
  • 20x: 75.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygotes for a targeted allele are behaviorally normal with no signs of aberrant brain histology or demyelination. Homozygotes for a knock-out allele are behaviorally intact with normal nervous tissue morphology and sensitivity to Fas-mediated apoptosis but show impaired repair of damaged nerves. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh18a1 T C 19: 40,562,800 (GRCm39) N191S probably benign Het
Cacnb2 T A 2: 14,879,630 (GRCm39) L84* probably null Het
Cdhr2 C T 13: 54,866,052 (GRCm39) T284M possibly damaging Het
Defb45 T C 2: 152,438,394 (GRCm39) probably benign Het
Dkk3 C T 7: 111,718,679 (GRCm39) V236M probably benign Het
Dscc1 A T 15: 54,945,711 (GRCm39) V328D probably benign Het
Epha3 T C 16: 63,372,889 (GRCm39) Y938C probably damaging Het
Erc1 A T 6: 119,756,452 (GRCm39) F435I possibly damaging Het
Fbxl5 T C 5: 43,908,323 (GRCm39) Y626C possibly damaging Het
Fmn2 A G 1: 174,440,170 (GRCm39) R1196G probably damaging Het
Gabrr1 C T 4: 33,160,225 (GRCm39) S303F probably damaging Het
Ggt1 T C 10: 75,414,689 (GRCm39) V169A possibly damaging Het
Gm3182 T A 14: 4,481,832 (GRCm38) C9S probably damaging Het
Gpr88 A C 3: 116,046,264 (GRCm39) S16A unknown Het
Kalrn A T 16: 33,851,952 (GRCm39) M2076K possibly damaging Het
Katnip A G 7: 125,412,768 (GRCm39) T371A probably benign Het
Kcnd3 T C 3: 105,566,025 (GRCm39) I402T probably damaging Het
Mink1 A G 11: 70,489,714 (GRCm39) D57G probably benign Het
Ncl T C 1: 86,279,162 (GRCm39) T584A possibly damaging Het
Nfx1 A T 4: 40,977,244 (GRCm39) Q306L probably benign Het
Ogdh A T 11: 6,290,504 (GRCm39) D374V probably benign Het
Or5d39 T A 2: 87,980,259 (GRCm39) T35S probably benign Het
Pak5 T A 2: 135,925,211 (GRCm39) H697L probably damaging Het
Pappa T C 4: 65,234,469 (GRCm39) C1425R probably damaging Het
Pramel26 T C 4: 143,539,406 (GRCm39) E29G possibly damaging Het
Rab3gap2 T A 1: 185,013,882 (GRCm39) I1196N probably damaging Het
Ralyl A T 3: 14,172,299 (GRCm39) D56V probably damaging Het
Scin C T 12: 40,119,446 (GRCm39) probably null Het
Slc25a19 T C 11: 115,514,781 (GRCm39) I69V possibly damaging Het
Slc8a1 G T 17: 81,956,269 (GRCm39) Y256* probably null Het
Smyd1 T C 6: 71,196,272 (GRCm39) H372R probably benign Het
Stard9 T A 2: 120,527,916 (GRCm39) M1391K possibly damaging Het
Tlr9 G A 9: 106,100,721 (GRCm39) R4H probably benign Het
Trim50 A G 5: 135,382,331 (GRCm39) D61G probably damaging Het
Ttn G A 2: 76,597,295 (GRCm39) P19873S probably damaging Het
Vmn1r228 G T 17: 20,996,772 (GRCm39) H249N probably benign Het
Vmn2r108 C T 17: 20,683,279 (GRCm39) G642S probably damaging Het
Wdr27 A G 17: 15,154,831 (GRCm39) S29P probably benign Het
Zan A G 5: 137,415,298 (GRCm39) probably null Het
Other mutations in St8sia1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02081:St8sia1 APN 6 142,774,953 (GRCm39) missense probably benign 0.00
IGL02138:St8sia1 APN 6 142,909,504 (GRCm39) utr 5 prime probably benign
IGL02419:St8sia1 APN 6 142,774,661 (GRCm39) missense probably damaging 1.00
IGL03407:St8sia1 APN 6 142,859,775 (GRCm39) missense possibly damaging 0.80
PIT4453001:St8sia1 UTSW 6 142,774,978 (GRCm39) nonsense probably null
R0167:St8sia1 UTSW 6 142,859,907 (GRCm39) splice site probably benign
R0690:St8sia1 UTSW 6 142,774,980 (GRCm39) missense probably damaging 1.00
R1727:St8sia1 UTSW 6 142,822,453 (GRCm39) missense probably damaging 0.99
R1743:St8sia1 UTSW 6 142,774,742 (GRCm39) missense probably damaging 1.00
R1937:St8sia1 UTSW 6 142,909,398 (GRCm39) missense probably damaging 1.00
R2923:St8sia1 UTSW 6 142,774,963 (GRCm39) missense probably damaging 1.00
R2983:St8sia1 UTSW 6 142,909,355 (GRCm39) missense probably damaging 0.99
R3824:St8sia1 UTSW 6 142,774,751 (GRCm39) missense probably damaging 1.00
R4803:St8sia1 UTSW 6 142,813,649 (GRCm39) missense probably benign 0.04
R4844:St8sia1 UTSW 6 142,774,996 (GRCm39) missense possibly damaging 0.82
R4865:St8sia1 UTSW 6 142,774,796 (GRCm39) missense probably damaging 1.00
R4886:St8sia1 UTSW 6 142,859,860 (GRCm39) missense probably damaging 0.99
R5170:St8sia1 UTSW 6 142,909,434 (GRCm39) missense probably damaging 0.99
R5519:St8sia1 UTSW 6 142,909,287 (GRCm39) missense probably damaging 0.99
R5783:St8sia1 UTSW 6 142,909,340 (GRCm39) missense possibly damaging 0.83
R6713:St8sia1 UTSW 6 142,775,008 (GRCm39) splice site probably null
R7017:St8sia1 UTSW 6 142,813,632 (GRCm39) missense probably damaging 0.98
R7144:St8sia1 UTSW 6 142,822,395 (GRCm39) missense probably damaging 1.00
R7997:St8sia1 UTSW 6 142,909,376 (GRCm39) missense probably damaging 1.00
Z1176:St8sia1 UTSW 6 142,774,825 (GRCm39) missense probably damaging 1.00
Z1177:St8sia1 UTSW 6 142,774,536 (GRCm39) nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-06-07