Incidental Mutation 'R4865:St8sia1'
ID 374824
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 042475-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R4865 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 142767271-142910178 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 142774796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 261 (F261S)
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: F261S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032421
Gene: ENSMUSG00000030283
AA Change: F261S

transmembrane domain 27 49 N/A INTRINSIC
Pfam:Glyco_transf_29 90 344 8.1e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000100821
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
Meta Mutation Damage Score 0.6108 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (86/88)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 C T 18: 61,938,157 (GRCm39) V639M probably damaging Het
Adgrf4 A G 17: 42,978,156 (GRCm39) S396P probably damaging Het
Aldh3b2 T A 19: 4,028,469 (GRCm39) I123N probably damaging Het
Aldh5a1 A G 13: 25,095,567 (GRCm39) Y517H probably damaging Het
Aph1c A C 9: 66,735,120 (GRCm39) I77S probably damaging Het
Armc8 A G 9: 99,408,942 (GRCm39) probably null Het
Atp13a5 G A 16: 29,066,912 (GRCm39) P1020L probably damaging Het
BC024139 A T 15: 76,010,266 (GRCm39) M80K possibly damaging Het
Cdk5rap1 C T 2: 154,212,876 (GRCm39) probably null Het
Cenpn A G 8: 117,661,512 (GRCm39) I204V probably damaging Het
Ces4a A T 8: 105,873,790 (GRCm39) M420L probably benign Het
Chdh T A 14: 29,755,681 (GRCm39) D322E probably benign Het
Clcn6 A T 4: 148,104,223 (GRCm39) I223N probably damaging Het
Clec4b1 A G 6: 123,045,428 (GRCm39) K50E possibly damaging Het
Creg1 T A 1: 165,597,432 (GRCm39) C135* probably null Het
Cyp4f13 C T 17: 33,144,678 (GRCm39) R411Q probably damaging Het
Dnah7b T C 1: 46,234,234 (GRCm39) F1426L probably damaging Het
Dock9 A T 14: 121,780,917 (GRCm39) *1917R probably null Het
Dync1h1 T G 12: 110,606,235 (GRCm39) L2435R possibly damaging Het
Eif3l C A 15: 78,965,849 (GRCm39) Y166* probably null Het
Emilin1 T A 5: 31,075,128 (GRCm39) N456K possibly damaging Het
Fam83f C T 15: 80,576,650 (GRCm39) R434C probably damaging Het
Fbxw9 A G 8: 85,786,785 (GRCm39) D10G possibly damaging Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Fsip2 T G 2: 82,821,295 (GRCm39) V5676G possibly damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm11596 A G 11: 99,684,064 (GRCm39) probably benign Het
Gm6522 T C 3: 106,183,286 (GRCm39) noncoding transcript Het
Gm6728 A G 6: 136,464,072 (GRCm39) noncoding transcript Het
Gria4 T A 9: 4,464,295 (GRCm39) I556F possibly damaging Het
Grp A T 18: 66,013,041 (GRCm39) D69V probably damaging Het
Gucy1a1 G T 3: 82,026,469 (GRCm39) probably benign Het
Haus5 A T 7: 30,357,980 (GRCm39) L376Q probably damaging Het
Ifne A T 4: 88,797,942 (GRCm39) Y159N probably damaging Het
Ift80 A G 3: 68,898,092 (GRCm39) V81A probably benign Het
Inpp5b T C 4: 124,645,288 (GRCm39) V192A probably benign Het
Kcnh4 A G 11: 100,640,569 (GRCm39) S486P probably damaging Het
Kif5b A G 18: 6,222,912 (GRCm39) probably benign Het
Macf1 T A 4: 123,327,096 (GRCm39) E4800D probably damaging Het
Mblac2 C T 13: 81,860,095 (GRCm39) Q150* probably null Het
Mc1r A T 8: 124,134,255 (GRCm39) T3S probably benign Het
Med17 G A 9: 15,176,668 (GRCm39) Q70* probably null Het
Myocd A T 11: 65,069,856 (GRCm39) probably null Het
Nphp3 T C 9: 103,909,169 (GRCm39) L793P probably benign Het
Or1ad1 A G 11: 50,876,370 (GRCm39) T281A probably damaging Het
Or2m13 A T 16: 19,226,051 (GRCm39) F238L probably damaging Het
Or4a68 T G 2: 89,270,003 (GRCm39) T207P possibly damaging Het
Or5an10 T C 19: 12,275,944 (GRCm39) D184G probably damaging Het
Or5ap2 T A 2: 85,680,060 (GRCm39) M88K probably damaging Het
Or8c13 T A 9: 38,091,196 (GRCm39) T308S possibly damaging Het
Piezo1 A T 8: 123,213,660 (GRCm39) L1745Q probably damaging Het
Prdm10 T A 9: 31,258,376 (GRCm39) H600Q probably damaging Het
Psapl1 C A 5: 36,362,211 (GRCm39) L268M probably damaging Het
Psg23 T C 7: 18,346,039 (GRCm39) I219V probably benign Het
Rexo5 A T 7: 119,400,553 (GRCm39) R113* probably null Het
Rgs22 A T 15: 36,100,358 (GRCm39) I243N probably damaging Het
Rhbdf1 G A 11: 32,164,517 (GRCm39) T183I probably damaging Het
Rhobtb1 T C 10: 69,106,554 (GRCm39) M373T probably benign Het
Ros1 G T 10: 52,048,966 (GRCm39) A88E probably damaging Het
Sdr16c6 A G 4: 4,058,834 (GRCm39) F251L probably benign Het
Skil A G 3: 31,167,562 (GRCm39) Y398C probably damaging Het
Slc22a3 A T 17: 12,683,419 (GRCm39) M148K probably benign Het
Slco4c1 G A 1: 96,768,953 (GRCm39) P303L probably damaging Het
Sntn A T 14: 13,679,103 (GRCm38) K92N probably benign Het
Spry4 A T 18: 38,722,876 (GRCm39) S296T probably benign Het
Stab2 C T 10: 86,679,364 (GRCm39) probably null Het
Stk24 A T 14: 121,530,866 (GRCm39) C363* probably null Het
Tank G A 2: 61,408,979 (GRCm39) probably benign Het
Tmem67 T C 4: 12,070,262 (GRCm39) N387S probably benign Het
Treml1 A T 17: 48,673,885 (GRCm39) I304L probably benign Het
Trim13 A G 14: 61,842,966 (GRCm39) I328V probably benign Het
Upk2 A G 9: 44,365,382 (GRCm39) V62A probably damaging Het
Urb2 A T 8: 124,756,374 (GRCm39) K694* probably null Het
Vmn2r17 C A 5: 109,574,985 (GRCm39) N97K probably damaging Het
Vmn2r57 A T 7: 41,049,892 (GRCm39) V619D probably damaging Het
Vmn2r92 G A 17: 18,387,634 (GRCm39) R213Q probably benign Het
Wnt6 G A 1: 74,821,788 (GRCm39) C123Y probably damaging Het
Zfp292 A G 4: 34,819,563 (GRCm39) I253T probably damaging Het
Zfp52 C T 17: 21,781,505 (GRCm39) S451L 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
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 2016-03-17