Incidental Mutation 'R6713:St8sia1'
ID 529208
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 044831-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R6713 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 142767271-142910178 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 142775008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000032421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032421] [ENSMUST00000205149]
AlphaFold Q64687
Predicted Effect probably null
Transcript: ENSMUST00000032421
SMART Domains Protein: ENSMUSP00000032421
Gene: ENSMUSG00000030283

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.9%
Validation Efficiency 100% (39/39)
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
Apol10a C T 15: 77,373,051 (GRCm39) T229M possibly damaging Het
Cdh16 G A 8: 105,346,617 (GRCm39) Q226* probably null Het
Cemip A T 7: 83,592,845 (GRCm39) N1227K probably benign Het
Dusp13b A G 14: 21,798,541 (GRCm39) V41A probably damaging Het
F3 C T 3: 121,525,323 (GRCm39) T53I possibly damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fyb2 T A 4: 104,847,432 (GRCm39) M484K probably benign Het
Glb1l A T 1: 75,179,061 (GRCm39) H253Q probably benign Het
Grm8 T C 6: 27,363,190 (GRCm39) E775G probably damaging Het
Hipk3 C T 2: 104,276,916 (GRCm39) V388M probably damaging Het
Ighe T C 12: 113,232,908 (GRCm39) probably benign Het
Kif14 A G 1: 136,453,544 (GRCm39) T1491A probably benign Het
Klre1 A G 6: 129,559,229 (GRCm39) probably null Het
Kpna6 A T 4: 129,547,777 (GRCm39) L257M probably damaging Het
Ldhc G A 7: 46,515,955 (GRCm39) probably null Het
Lekr1 C A 3: 65,591,380 (GRCm39) A39D probably benign Het
Lins1 A G 7: 66,358,230 (GRCm39) T122A probably benign Het
Lrrc40 G A 3: 157,769,350 (GRCm39) R516Q probably benign Het
Meis3 G T 7: 15,916,255 (GRCm39) G72* probably null Het
Mpo A G 11: 87,686,194 (GRCm39) T115A probably damaging Het
Mrgprb5 A G 7: 47,818,537 (GRCm39) V66A probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nags C A 11: 102,037,347 (GRCm39) A146E probably benign Het
Nkain4 C T 2: 180,585,970 (GRCm39) G31D probably damaging Het
Or2y1 T G 11: 49,385,784 (GRCm39) C141W probably damaging Het
Or4k1 T A 14: 50,377,181 (GRCm39) H305L probably benign Het
Or5ak24 A C 2: 85,260,883 (GRCm39) C97G probably damaging Het
Or8a1 A G 9: 37,641,560 (GRCm39) C240R probably damaging Het
Otud6b C T 4: 14,822,739 (GRCm39) V122I probably benign Het
Ovca2 C T 11: 75,069,569 (GRCm39) S18N possibly damaging Het
Pax2 A G 19: 44,823,916 (GRCm39) S370G unknown Het
Pias2 G A 18: 77,153,416 (GRCm39) probably null Het
Slc2a10 T C 2: 165,357,128 (GRCm39) F263L probably damaging Het
Slc6a17 T G 3: 107,378,703 (GRCm39) M660L probably benign Het
Smarcc2 A G 10: 128,323,638 (GRCm39) probably null Het
Srcap A G 7: 127,134,089 (GRCm39) T937A probably benign Het
Ssh2 C A 11: 77,340,259 (GRCm39) D470E possibly damaging Het
Supt20 T A 3: 54,606,022 (GRCm39) I36K possibly damaging Het
Tor1aip2 T A 1: 155,941,155 (GRCm39) L487Q probably damaging Het
Zfp619 G T 7: 39,187,322 (GRCm39) K1117N 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
R5783:St8sia1 UTSW 6 142,909,340 (GRCm39) missense possibly damaging 0.83
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 2018-07-24