Incidental Mutation 'IGL02682:St8sia3'
ID 303397
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol St8sia3
Ensembl Gene ENSMUSG00000056812
Gene Name ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3
Synonyms Siat8c, ST8SiaIII
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # IGL02682
Quality Score
Status
Chromosome 18
Chromosomal Location 64387430-64409217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 64402750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 130 (V130F)
Ref Sequence ENSEMBL: ENSMUSP00000121367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025477] [ENSMUST00000139622]
AlphaFold Q64689
Predicted Effect probably damaging
Transcript: ENSMUST00000025477
AA Change: V186F

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025477
Gene: ENSMUSG00000056812
AA Change: V186F

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: ENSMUST00000127716
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134064
Predicted Effect probably damaging
Transcript: ENSMUST00000139622
AA Change: V130F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121367
Gene: ENSMUSG00000056812
AA Change: V130F

DomainStartEndE-ValueType
Pfam:Glyco_transf_29 53 229 2e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140903
Coding Region Coverage
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 A G 2: 58,367,823 (GRCm39) S113P probably benign Het
Arhgdib A T 6: 136,901,166 (GRCm39) W188R probably damaging Het
Bcr T A 10: 75,001,878 (GRCm39) N927K possibly damaging Het
Cd209c A G 8: 3,990,324 (GRCm39) Y165H probably damaging Het
Cnnm2 A G 19: 46,750,515 (GRCm39) K102E probably benign Het
Col12a1 T C 9: 79,606,623 (GRCm39) E600G probably damaging Het
Ddx4 A T 13: 112,758,720 (GRCm39) H280Q probably benign Het
Eya4 T C 10: 22,992,498 (GRCm39) Y462C probably damaging Het
Fibcd1 T A 2: 31,728,576 (GRCm39) I94F probably damaging Het
Gm4846 C A 1: 166,322,195 (GRCm39) G124V probably damaging Het
Gm5624 A G 14: 44,797,469 (GRCm39) I108T possibly damaging Het
Gpr179 A T 11: 97,242,691 (GRCm39) M51K probably benign Het
Hck A G 2: 152,976,054 (GRCm39) I198V probably damaging Het
Kcnd2 T A 6: 21,216,924 (GRCm39) C209* probably null Het
Klhl1 T A 14: 96,438,778 (GRCm39) I507F possibly damaging Het
Knl1 A T 2: 118,908,450 (GRCm39) K1693N possibly damaging Het
Mcam T C 9: 44,051,714 (GRCm39) V490A possibly damaging Het
Mrgprx1 A T 7: 47,671,740 (GRCm39) D2E probably damaging Het
Mtg1 T C 7: 139,724,642 (GRCm39) probably benign Het
Myof C A 19: 37,909,929 (GRCm39) R1512L probably benign Het
Nrp2 C T 1: 62,810,996 (GRCm39) T679I probably benign Het
Nwd2 C A 5: 63,962,020 (GRCm39) L535I probably benign Het
Nwd2 T A 5: 63,962,021 (GRCm39) L535H probably damaging Het
Or4f14b T A 2: 111,775,285 (GRCm39) N172I probably damaging Het
Or52j3 A T 7: 102,836,221 (GRCm39) I138F probably damaging Het
Or5b94 T C 19: 12,652,033 (GRCm39) S155P probably damaging Het
Phkb A G 8: 86,602,275 (GRCm39) *41W probably null Het
Prl5a1 T A 13: 28,329,403 (GRCm39) N27K probably benign Het
Rims1 T C 1: 22,358,708 (GRCm39) T1292A probably damaging Het
Rnf38 G A 4: 44,133,745 (GRCm39) A376V probably damaging Het
Slc34a2 T C 5: 53,216,580 (GRCm39) V117A possibly damaging Het
Slfn8 A T 11: 82,894,517 (GRCm39) F707L probably damaging Het
Snx16 G A 3: 10,503,235 (GRCm39) P4L probably damaging Het
Snx6 T C 12: 54,801,130 (GRCm39) D289G probably damaging Het
U2surp A G 9: 95,363,704 (GRCm39) probably null Het
Ubqln3 A G 7: 103,791,272 (GRCm39) F273L probably benign Het
Vmn2r101 A T 17: 19,832,507 (GRCm39) R834S possibly damaging Het
Vmn2r18 G T 5: 151,508,102 (GRCm39) H341N probably damaging Het
Vrk3 A G 7: 44,403,244 (GRCm39) I2V probably benign Het
Zglp1 A G 9: 20,977,534 (GRCm39) S94P probably benign Het
Other mutations in St8sia3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02162:St8sia3 APN 18 64,398,651 (GRCm39) missense probably benign 0.01
R0088:St8sia3 UTSW 18 64,400,056 (GRCm39) missense possibly damaging 0.58
R0784:St8sia3 UTSW 18 64,404,772 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16