Incidental Mutation 'R0784:St8sia3'
ID 76798
Institutional Source Beutler Lab
Gene Symbol St8sia3
Ensembl Gene ENSMUSG00000056812
Gene Name ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3
Synonyms Siat8c, ST8SiaIII
MMRRC Submission 038964-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R0784 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 64387430-64409217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64404772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 350 (W350R)
Ref Sequence ENSEMBL: ENSMUSP00000025477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025477] [ENSMUST00000139622]
AlphaFold Q64689
Predicted Effect probably damaging
Transcript: ENSMUST00000025477
AA Change: W350R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025477
Gene: ENSMUSG00000056812
AA Change: W350R

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
Pfam:Glyco_transf_29 113 377 8.4e-71 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123473
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124013
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127716
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134064
Predicted Effect probably benign
Transcript: ENSMUST00000139622
SMART Domains Protein: ENSMUSP00000121367
Gene: ENSMUSG00000056812

DomainStartEndE-ValueType
Pfam:Glyco_transf_29 53 229 2e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140903
Meta Mutation Damage Score 0.2458 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 96.9%
  • 20x: 92.1%
Validation Efficiency 97% (59/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ST8SIA3 belongs to a family of sialyltransferases that form sialyl-alpha-2,8-sialyl-R linkages at the nonreducing termini of glycoconjugates (Lee et al., 1998 [PubMed 9826427]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 T C 14: 54,890,985 (GRCm39) probably benign Het
Adamts2 C T 11: 50,558,830 (GRCm39) R182W probably damaging Het
Ahr C T 12: 35,558,141 (GRCm39) G293D possibly damaging Het
Akna G T 4: 63,295,125 (GRCm39) T1028K probably benign Het
Akp3 G A 1: 87,055,593 (GRCm39) G547R unknown Het
Aoc1l3 T A 6: 48,964,235 (GRCm39) M81K possibly damaging Het
Asic2 T A 11: 80,784,815 (GRCm39) M324L possibly damaging Het
Atf6 A G 1: 170,537,516 (GRCm39) F635L probably benign Het
Atp8b2 A T 3: 89,864,380 (GRCm39) V195E probably damaging Het
Bicd1 T A 6: 149,414,861 (GRCm39) C525S probably damaging Het
Cbfa2t3 A G 8: 123,377,226 (GRCm39) probably benign Het
Cd46 G A 1: 194,774,502 (GRCm39) T11M possibly damaging Het
Cecr2 A G 6: 120,735,110 (GRCm39) H754R possibly damaging Het
Clcn3 G T 8: 61,382,237 (GRCm39) D450E probably benign Het
Cobl T G 11: 12,216,843 (GRCm39) probably benign Het
Cyba T A 8: 123,154,422 (GRCm39) T34S probably benign Het
Dennd1a A G 2: 37,911,426 (GRCm39) L187P probably damaging Het
Dennd4c A T 4: 86,763,145 (GRCm39) Q1817L probably benign Het
Drosha T C 15: 12,867,764 (GRCm39) probably benign Het
Dync1li2 A G 8: 105,169,130 (GRCm39) S34P probably damaging Het
Emilin2 T A 17: 71,582,282 (GRCm39) D148V possibly damaging Het
Galnt11 A G 5: 25,463,907 (GRCm39) D393G probably damaging Het
Gm5435 T A 12: 82,542,954 (GRCm39) noncoding transcript Het
Gpr176 C T 2: 118,203,533 (GRCm39) V46M possibly damaging Het
Gpr85 T A 6: 13,836,748 (GRCm39) H52L probably benign Het
Grn T C 11: 102,325,328 (GRCm39) M246T possibly damaging Het
Hnrnpul2 T C 19: 8,802,416 (GRCm39) F428L possibly damaging Het
Hoxa13 G C 6: 52,236,917 (GRCm39) N278K probably damaging Het
Irx5 A G 8: 93,087,118 (GRCm39) D350G probably benign Het
Kat2a C T 11: 100,601,667 (GRCm39) M249I probably benign Het
Klhl29 T C 12: 5,131,251 (GRCm39) Y782C probably damaging Het
Kmt2c A T 5: 25,515,893 (GRCm39) F2650Y probably benign Het
Lrp2 A G 2: 69,348,709 (GRCm39) I754T probably benign Het
LTO1 A T 7: 144,473,014 (GRCm39) Y108F probably benign Het
Mpl G A 4: 118,303,603 (GRCm39) P472S possibly damaging Het
Mtnr1b A G 9: 15,774,081 (GRCm39) I326T probably benign Het
Myh9 A G 15: 77,661,209 (GRCm39) probably benign Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Myo9a A G 9: 59,803,828 (GRCm39) probably benign Het
Or2z2 T A 11: 58,346,131 (GRCm39) I215F possibly damaging Het
Or4ac1-ps1 T A 2: 88,370,511 (GRCm39) noncoding transcript Het
Pcsk5 T C 19: 17,692,133 (GRCm39) M184V probably benign Het
Piezo2 T A 18: 63,216,306 (GRCm39) D1143V probably damaging Het
Prr36 G T 8: 4,263,771 (GRCm39) probably benign Het
Rnf220 C A 4: 117,135,195 (GRCm39) probably benign Het
Senp3 A G 11: 69,571,274 (GRCm39) L131P probably damaging Het
Shc4 A C 2: 125,499,416 (GRCm39) W354G probably benign Het
Slc6a15 A G 10: 103,252,661 (GRCm39) probably benign Het
Smtnl2 T C 11: 72,290,763 (GRCm39) D394G probably damaging Het
Sry G T Y: 2,662,731 (GRCm39) Q310K unknown Het
St7l A G 3: 104,778,240 (GRCm39) M126V probably benign Het
Stk35 A T 2: 129,652,722 (GRCm39) K408* probably null Het
Thsd7b T C 1: 129,523,096 (GRCm39) probably benign Het
Tmem106b T C 6: 13,084,252 (GRCm39) V252A probably damaging Het
Trpm7 A G 2: 126,687,992 (GRCm39) probably null Het
Ttf2 T C 3: 100,870,026 (GRCm39) D349G probably benign Het
Zfp386 T A 12: 116,023,540 (GRCm39) C419* probably null Het
Zfp541 A G 7: 15,816,917 (GRCm39) probably benign Het
Other mutations in St8sia3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02162:St8sia3 APN 18 64,398,651 (GRCm39) missense probably benign 0.01
IGL02682:St8sia3 APN 18 64,402,750 (GRCm39) missense probably damaging 0.99
R0088:St8sia3 UTSW 18 64,400,056 (GRCm39) missense possibly damaging 0.58
R1820:St8sia3 UTSW 18 64,402,703 (GRCm39) missense probably damaging 1.00
R2126:St8sia3 UTSW 18 64,402,745 (GRCm39) missense probably damaging 1.00
R2283:St8sia3 UTSW 18 64,404,801 (GRCm39) missense probably damaging 1.00
R2433:St8sia3 UTSW 18 64,402,787 (GRCm39) missense probably benign 0.00
R3237:St8sia3 UTSW 18 64,402,886 (GRCm39) missense probably damaging 1.00
R4792:St8sia3 UTSW 18 64,398,634 (GRCm39) missense probably benign 0.12
R4798:St8sia3 UTSW 18 64,404,820 (GRCm39) missense probably benign 0.38
R6700:St8sia3 UTSW 18 64,398,452 (GRCm39) unclassified probably benign
R6957:St8sia3 UTSW 18 64,404,853 (GRCm39) missense probably benign 0.25
R7016:St8sia3 UTSW 18 64,402,654 (GRCm39) missense probably benign 0.01
R7337:St8sia3 UTSW 18 64,402,987 (GRCm39) missense probably benign 0.00
R7464:St8sia3 UTSW 18 64,404,589 (GRCm39) missense probably damaging 1.00
R7823:St8sia3 UTSW 18 64,400,027 (GRCm39) missense probably benign 0.00
R9431:St8sia3 UTSW 18 64,398,640 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GGAAGTGTATCTAGCGGTGAAACCC -3'
(R):5'- CGGCTTCAATGCACCTGTCCTAAG -3'

Sequencing Primer
(F):5'- CAGTCTAGAAAACTCTAGCTCCTTG -3'
(R):5'- CAGACAGGCTTTGCCAGATTG -3'
Posted On 2013-10-16