Incidental Mutation 'R7997:St8sia1'
ID 616137
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 046037-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R7997 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 142767271-142910178 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 142909376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 40 (C40Y)
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: C40Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032421
Gene: ENSMUSG00000030283
AA Change: C40Y

transmembrane domain 27 49 N/A INTRINSIC
Pfam:Glyco_transf_29 90 344 8.1e-73 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000205149
AA Change: C40Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000145148
Gene: ENSMUSG00000030283
AA Change: C40Y

transmembrane domain 27 49 N/A INTRINSIC
transmembrane domain 76 95 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024B05Rik G A 14: 41,766,209 (GRCm39) probably benign Het
Abra A C 15: 41,729,593 (GRCm39) M269R probably damaging Het
Atp6v0e2 A G 6: 48,514,718 (GRCm39) I12V probably benign Het
Bicral T A 17: 47,112,534 (GRCm39) I889F probably benign Het
Cabin1 A G 10: 75,569,609 (GRCm39) V826A probably benign Het
Casq2 A T 3: 101,994,158 (GRCm39) K68N probably damaging Het
Cdh23 C A 10: 60,432,518 (GRCm39) Q135H possibly damaging Het
Chn2 A T 6: 54,267,270 (GRCm39) H253L probably damaging Het
Dnajc22 A G 15: 98,999,514 (GRCm39) E233G probably damaging Het
Fbxo6 A G 4: 148,231,852 (GRCm39) S96P possibly damaging Het
Gimap6 G T 6: 48,679,249 (GRCm39) N262K probably damaging Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Grid2 C A 6: 64,297,120 (GRCm39) H494Q possibly damaging Het
Hmgcl T A 4: 135,687,320 (GRCm39) Y198* probably null Het
Hmgxb4 A T 8: 75,727,956 (GRCm39) Y313F probably damaging Het
Hr G A 14: 70,801,043 (GRCm39) W676* probably null Het
Insc A G 7: 114,444,372 (GRCm39) D453G probably damaging Het
Iqub T C 6: 24,501,413 (GRCm39) N179S possibly damaging Het
Kdm3b T A 18: 34,941,336 (GRCm39) S276T probably benign Het
Kmt2a C A 9: 44,745,220 (GRCm39) K1597N unknown Het
Kntc1 T C 5: 123,916,117 (GRCm39) V682A probably damaging Het
Mcm9 T A 10: 53,473,502 (GRCm39) probably benign Het
Med30 T C 15: 52,593,467 (GRCm39) L149P probably damaging Het
Mmd2 T A 5: 142,560,615 (GRCm39) H102L possibly damaging Het
Mtres1 T C 10: 43,401,356 (GRCm39) T198A probably benign Het
Mybph G A 1: 134,122,405 (GRCm39) R150H probably damaging Het
Ndufaf4 A G 4: 24,901,919 (GRCm39) T156A probably benign Het
Or2g1 T A 17: 38,107,053 (GRCm39) C239* probably null Het
Pecr T A 1: 72,315,475 (GRCm39) K92* probably null Het
Pithd1 T C 4: 135,703,723 (GRCm39) T207A probably benign Het
Prdm10 T A 9: 31,264,721 (GRCm39) C719S probably damaging Het
Rasef C A 4: 73,658,799 (GRCm39) W316L possibly damaging Het
Robo1 T C 16: 72,701,581 (GRCm39) V149A probably damaging Het
Ryr1 A T 7: 28,702,968 (GRCm39) V5034D unknown Het
Slc26a10 A G 10: 127,009,178 (GRCm39) V661A possibly damaging Het
Slc30a8 T G 15: 52,189,081 (GRCm39) I232S possibly damaging Het
Smg1 A G 7: 117,772,364 (GRCm39) F1464L unknown Het
Smg1 A C 7: 117,772,365 (GRCm39) H1463Q unknown Het
Spata1 G A 3: 146,182,035 (GRCm39) A245V probably benign Het
Strn T C 17: 78,991,672 (GRCm39) T216A probably benign Het
Tecpr2 G A 12: 110,900,037 (GRCm39) E802K probably benign Het
Tenm4 A G 7: 96,523,512 (GRCm39) I1685V probably benign Het
Tyw5 T C 1: 57,427,683 (GRCm39) D307G probably benign Het
Usp17le A T 7: 104,418,046 (GRCm39) D365E possibly damaging Het
Vmn1r13 T G 6: 57,187,329 (GRCm39) S163A possibly damaging Het
Vmn1r75 A T 7: 11,614,600 (GRCm39) T111S probably damaging Het
Wdr95 G T 5: 149,502,622 (GRCm39) probably null Het
Zfp292 G A 4: 34,808,688 (GRCm39) P1457L probably damaging Het
Zfp606 T A 7: 12,223,519 (GRCm39) V10E probably damaging Het
Zfp606 T C 7: 12,228,134 (GRCm39) S752P possibly damaging Het
Zscan29 T G 2: 120,991,221 (GRCm39) S856R probably benign 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
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
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 2020-01-23