Incidental Mutation 'R5783:St8sia1'
ID 447858
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
MMRRC Submission 043380-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R5783 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 142767271-142910178 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142909340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 52 (N52S)
Ref Sequence ENSEMBL: ENSMUSP00000145148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032421] [ENSMUST00000205149]
AlphaFold Q64687
Predicted Effect probably benign
Transcript: ENSMUST00000032421
AA Change: N52S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000032421
Gene: ENSMUSG00000030283
AA Change: N52S

transmembrane domain 27 49 N/A INTRINSIC
Pfam:Glyco_transf_29 90 344 8.1e-73 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000205149
AA Change: N52S

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000145148
Gene: ENSMUSG00000030283
AA Change: N52S

transmembrane domain 27 49 N/A INTRINSIC
transmembrane domain 76 95 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T A 11: 23,468,787 (GRCm39) Y48F probably damaging Het
Apob A G 12: 8,051,022 (GRCm39) D1082G probably damaging Het
Cald1 G A 6: 34,730,468 (GRCm39) A236T possibly damaging Het
Ccdc88b A C 19: 6,831,284 (GRCm39) C553G probably benign Het
Cenpe A G 3: 134,967,341 (GRCm39) D2161G probably benign Het
Cep78 G T 19: 15,933,723 (GRCm39) N618K probably benign Het
Chka A G 19: 3,914,661 (GRCm39) N118D probably damaging Het
Dennd5a A C 7: 109,493,843 (GRCm39) I1263S probably damaging Het
Dnaaf9 A C 2: 130,581,003 (GRCm39) F582L possibly damaging Het
Dnm3 T C 1: 162,183,040 (GRCm39) T92A possibly damaging Het
Dpp9 T C 17: 56,518,655 (GRCm39) K50E probably damaging Het
Fen1 G T 19: 10,178,194 (GRCm39) Y83* probably null Het
Gm1110 A G 9: 26,793,632 (GRCm39) I532T probably benign Het
H2bc21 T C 3: 96,128,615 (GRCm39) V45A possibly damaging Het
Impdh1 A T 6: 29,206,342 (GRCm39) F140Y possibly damaging Het
Kcnc4 T C 3: 107,355,188 (GRCm39) D420G possibly damaging Het
Kctd19 A G 8: 106,113,612 (GRCm39) V664A probably benign Het
Krt80 C T 15: 101,257,360 (GRCm39) probably null Het
Lars2 T G 9: 123,290,661 (GRCm39) M876R probably benign Het
Lrrc9 A G 12: 72,502,827 (GRCm39) E266G possibly damaging Het
Mesd T A 7: 83,544,883 (GRCm39) V120E probably damaging Het
Mogs C T 6: 83,095,652 (GRCm39) T823I probably damaging Het
Mrgprh C A 17: 13,096,333 (GRCm39) T191N probably benign Het
Mtss1 C T 15: 58,815,373 (GRCm39) S729N probably benign Het
Muc5b G T 7: 141,412,165 (GRCm39) E1704* probably null Het
Or2ag13 C A 7: 106,472,541 (GRCm39) V304F probably damaging Het
Or51m1 A T 7: 103,578,149 (GRCm39) I40F probably damaging Het
Or8k30 T C 2: 86,338,982 (GRCm39) Y60H probably damaging Het
Osbpl8 T A 10: 111,103,644 (GRCm39) L216* probably null Het
Pcdha5 T C 18: 37,095,534 (GRCm39) V681A probably benign Het
Pgap3 A C 11: 98,281,290 (GRCm39) V190G probably benign Het
Ppp2r5a A T 1: 191,086,837 (GRCm39) Y373N probably damaging Het
Prkdc T C 16: 15,535,665 (GRCm39) L1675P probably damaging Het
Rapgef2 T G 3: 78,995,300 (GRCm39) I635L probably benign Het
Rusc1 T C 3: 88,995,452 (GRCm39) D193G probably damaging Het
Ryr3 C T 2: 112,483,343 (GRCm39) V4140I probably benign Het
Scamp5 A G 9: 57,353,353 (GRCm39) probably null Het
Shoc1 A T 4: 59,076,239 (GRCm39) L568* probably null Het
Slc41a3 T C 6: 90,596,524 (GRCm39) I31T probably benign Het
Smad9 T C 3: 54,701,863 (GRCm39) V368A probably benign Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 (GRCm39) probably benign Het
Svop T G 5: 114,202,996 (GRCm39) D72A possibly damaging Het
Sybu T C 15: 44,609,810 (GRCm39) I153V probably damaging Het
Tmem266 G T 9: 55,305,087 (GRCm39) S32I probably damaging Het
Trpm4 G T 7: 44,959,813 (GRCm39) R694S probably benign Het
Uqcrfs1 A G 13: 30,729,187 (GRCm39) L15P probably damaging Het
Vrtn T A 12: 84,697,251 (GRCm39) L667Q probably benign Het
Zc3h14 T A 12: 98,723,434 (GRCm39) S241R probably damaging Het
Zfp617 C A 8: 72,686,308 (GRCm39) H213N probably damaging Het
Zfp638 G A 6: 83,921,829 (GRCm39) G652D possibly damaging Het
Zmiz2 T C 11: 6,355,081 (GRCm39) L916P probably damaging 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
PIT4498001:St8sia1 UTSW 6 142,859,848 (GRCm39) missense probably damaging 1.00
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
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 2016-12-15