Incidental Mutation 'R4803:St8sia1'
ID 370466
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 # R4803 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 142767271-142910178 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 142813649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 171 (S171I)
Ref Sequence ENSEMBL: ENSMUSP00000032421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032421] [ENSMUST00000205149]
AlphaFold Q64687
Predicted Effect probably benign
Transcript: ENSMUST00000032421
AA Change: S171I

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000032421
Gene: ENSMUSG00000030283
AA Change: S171I

transmembrane domain 27 49 N/A INTRINSIC
Pfam:Glyco_transf_29 90 344 8.1e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147058
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: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Anxa8 T A 14: 33,814,579 (GRCm39) probably null Het
Ap4e1 A G 2: 126,891,479 (GRCm39) I83M probably benign Het
Arhgap44 G C 11: 64,943,921 (GRCm39) P197A probably benign Het
Asb1 T A 1: 91,480,051 (GRCm39) V157E probably damaging Het
B3gat1 T A 9: 26,666,986 (GRCm39) Y73N probably benign Het
Bmp8a G A 4: 123,218,362 (GRCm39) T219I possibly damaging Het
Cacna1c G A 6: 118,728,502 (GRCm39) S285F probably damaging Het
Cd163 A G 6: 124,289,389 (GRCm39) D369G probably damaging Het
Ckap2l C T 2: 129,111,176 (GRCm39) G674R probably damaging Het
Cog2 A G 8: 125,262,190 (GRCm39) Y276C probably damaging Het
Col16a1 A T 4: 129,948,901 (GRCm39) probably benign Het
Col5a1 G A 2: 27,901,353 (GRCm39) G1282R unknown Het
Cyp2c29 A T 19: 39,313,439 (GRCm39) M351L probably benign Het
Cyp4f15 T A 17: 32,911,554 (GRCm39) D145E probably benign Het
Defb48 T C 14: 63,221,906 (GRCm39) Y4C unknown Het
Dnaaf3 T C 7: 4,529,903 (GRCm39) Q292R probably benign Het
Dnah11 T C 12: 118,091,343 (GRCm39) M930V possibly damaging Het
Dnaja2 A T 8: 86,280,029 (GRCm39) I50K probably damaging Het
Dnm2 A G 9: 21,385,925 (GRCm39) N316S probably damaging Het
Dusp12 A G 1: 170,708,175 (GRCm39) Y181H possibly damaging Het
Efemp1 T G 11: 28,871,795 (GRCm39) F437V possibly damaging Het
Eps8l3 T A 3: 107,798,325 (GRCm39) V464D probably damaging Het
Fat2 A T 11: 55,175,886 (GRCm39) L1609Q probably benign Het
Fbxw24 C T 9: 109,453,910 (GRCm39) V79I probably benign Het
Fgl2 A T 5: 21,580,918 (GRCm39) Q420L probably benign Het
Filip1 T C 9: 79,727,396 (GRCm39) K408E probably benign Het
Fkbp9 A C 6: 56,852,692 (GRCm39) I471L probably benign Het
Fndc1 A T 17: 7,972,538 (GRCm39) S1465T probably damaging Het
Fry A T 5: 150,322,998 (GRCm39) T1050S probably benign Het
Gm12258 G A 11: 58,749,856 (GRCm39) V344I probably benign Het
Gtf3c1 A G 7: 125,262,712 (GRCm39) V1049A probably damaging Het
Ireb2 A G 9: 54,814,098 (GRCm39) E829G probably benign Het
Itih5 G A 2: 10,245,392 (GRCm39) V494I probably benign Het
Krt75 A T 15: 101,476,507 (GRCm39) D419E probably benign Het
Lama1 T C 17: 68,116,266 (GRCm39) S2378P probably damaging Het
Lcorl T A 5: 45,904,623 (GRCm39) probably null Het
Man2a1 A T 17: 64,966,004 (GRCm39) H314L probably damaging Het
Mthfd1l T A 10: 3,957,840 (GRCm39) H292Q possibly damaging Het
Ocm A T 5: 143,960,686 (GRCm39) M87K possibly damaging Het
Oplah A G 15: 76,186,968 (GRCm39) Y616H probably damaging Het
Or4s2b A T 2: 88,508,366 (GRCm39) S56C probably benign Het
Or52e4 A C 7: 104,705,863 (GRCm39) I137L probably benign Het
Or5b99 T C 19: 12,976,533 (GRCm39) L61P probably damaging Het
Or5p58 A C 7: 107,694,666 (GRCm39) I37S probably damaging Het
Or8c13 C A 9: 38,091,546 (GRCm39) S191I probably damaging Het
Or8g32 A G 9: 39,305,932 (GRCm39) T282A probably benign Het
Pde3a G A 6: 141,404,812 (GRCm39) V346M probably damaging Het
Pdlim1 T A 19: 40,231,892 (GRCm39) E162V possibly damaging Het
Pdzd2 C G 15: 12,374,681 (GRCm39) S1818T probably benign Het
Phf24 G A 4: 42,933,731 (GRCm39) G38S probably damaging Het
Plekhg1 T C 10: 3,907,186 (GRCm39) V701A probably benign Het
Ppard C G 17: 28,505,348 (GRCm39) R12G unknown Het
Ptprz1 A G 6: 23,001,545 (GRCm39) S1212G probably benign Het
Rab3il1 C A 19: 10,004,808 (GRCm39) Q110K possibly damaging Het
Rin3 A T 12: 102,327,642 (GRCm39) probably benign Het
Rps6kb2 T A 19: 4,208,677 (GRCm39) K280* probably null Het
Slc27a6 G T 18: 58,705,105 (GRCm39) L162F possibly damaging Het
Slc6a19 T A 13: 73,832,161 (GRCm39) I472F possibly damaging Het
Spatc1l G A 10: 76,405,206 (GRCm39) R196Q probably damaging Het
Srp72 T C 5: 77,132,231 (GRCm39) I273T probably damaging Het
Tas2r136 T C 6: 132,754,455 (GRCm39) H224R probably damaging Het
Tas2r140 A G 6: 133,032,743 (GRCm39) V5A possibly damaging Het
Tbce C T 13: 14,194,446 (GRCm39) R71H probably damaging Het
Tdrd9 A T 12: 111,963,269 (GRCm39) K115* probably null Het
Thada T A 17: 84,580,245 (GRCm39) H1403L probably damaging Het
Thap1 AGCAGCATCTGCTCG AG 8: 26,650,882 (GRCm39) probably null Het
Timm44 A G 8: 4,317,932 (GRCm39) S159P probably damaging Het
Tlk2 T A 11: 105,171,926 (GRCm39) C699S probably damaging Het
Tmem178b A G 6: 39,981,160 (GRCm39) K65R probably damaging Het
Ttc28 T C 5: 111,425,329 (GRCm39) V1718A possibly damaging Het
Ttc6 T G 12: 57,775,291 (GRCm39) C1662W probably damaging Het
Ube2frt T A 12: 36,140,729 (GRCm39) probably benign Het
Unc13a C A 8: 72,115,494 (GRCm39) probably null Het
Vip A T 10: 5,594,099 (GRCm39) I151F probably damaging Het
Vps16 C T 2: 130,280,030 (GRCm39) P85L probably benign Het
Wdsub1 T C 2: 59,700,743 (GRCm39) probably benign Het
Zc3h12c T C 9: 52,027,853 (GRCm39) D503G 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
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 2016-02-04