Incidental Mutation 'IGL02682:St8sia3'
ID303397
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol St8sia3
Ensembl Gene ENSMUSG00000056812
Gene NameST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3
SynonymsSiat8c, ST8SiaIII
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.133) question?
Stock #IGL02682
Quality Score
Status
Chromosome18
Chromosomal Location64254359-64276146 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 64269679 bp
ZygosityHeterozygous
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]
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: 58,477,811 S113P probably benign Het
Arhgdib A T 6: 136,924,168 W188R probably damaging Het
Bcr T A 10: 75,166,046 N927K possibly damaging Het
Cd209c A G 8: 3,940,324 Y165H probably damaging Het
Cnnm2 A G 19: 46,762,076 K102E probably benign Het
Col12a1 T C 9: 79,699,341 E600G probably damaging Het
Ddx4 A T 13: 112,622,186 H280Q probably benign Het
Eya4 T C 10: 23,116,600 Y462C probably damaging Het
Fibcd1 T A 2: 31,838,564 I94F probably damaging Het
Gm4846 C A 1: 166,494,626 G124V probably damaging Het
Gm5624 A G 14: 44,560,012 I108T possibly damaging Het
Gpr179 A T 11: 97,351,865 M51K probably benign Het
Hck A G 2: 153,134,134 I198V probably damaging Het
Kcnd2 T A 6: 21,216,925 C209* probably null Het
Klhl1 T A 14: 96,201,342 I507F possibly damaging Het
Knl1 A T 2: 119,077,969 K1693N possibly damaging Het
Mcam T C 9: 44,140,417 V490A possibly damaging Het
Mrgprx1 A T 7: 48,021,992 D2E probably damaging Het
Mtg1 T C 7: 140,144,729 probably benign Het
Myof C A 19: 37,921,481 R1512L probably benign Het
Nrp2 C T 1: 62,771,837 T679I probably benign Het
Nwd2 C A 5: 63,804,677 L535I probably benign Het
Nwd2 T A 5: 63,804,678 L535H probably damaging Het
Olfr1307 T A 2: 111,944,940 N172I probably damaging Het
Olfr1442 T C 19: 12,674,669 S155P probably damaging Het
Olfr592 A T 7: 103,187,014 I138F probably damaging Het
Phkb A G 8: 85,875,646 *41W probably null Het
Prl5a1 T A 13: 28,145,420 N27K probably benign Het
Rims1 T C 1: 22,288,484 T1292A probably damaging Het
Rnf38 G A 4: 44,133,745 A376V probably damaging Het
Slc34a2 T C 5: 53,059,238 V117A possibly damaging Het
Slfn8 A T 11: 83,003,691 F707L probably damaging Het
Snx16 G A 3: 10,438,175 P4L probably damaging Het
Snx6 T C 12: 54,754,345 D289G probably damaging Het
U2surp A G 9: 95,481,651 probably null Het
Ubqln3 A G 7: 104,142,065 F273L probably benign Het
Vmn2r101 A T 17: 19,612,245 R834S possibly damaging Het
Vmn2r18 G T 5: 151,584,637 H341N probably damaging Het
Vrk3 A G 7: 44,753,820 I2V probably benign Het
Zglp1 A G 9: 21,066,238 S94P probably benign Het
Other mutations in St8sia3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02162:St8sia3 APN 18 64265580 missense probably benign 0.01
R0088:St8sia3 UTSW 18 64266985 missense possibly damaging 0.58
R0784:St8sia3 UTSW 18 64271701 missense probably damaging 1.00
R1820:St8sia3 UTSW 18 64269632 missense probably damaging 1.00
R2126:St8sia3 UTSW 18 64269674 missense probably damaging 1.00
R2283:St8sia3 UTSW 18 64271730 missense probably damaging 1.00
R2433:St8sia3 UTSW 18 64269716 missense probably benign 0.00
R3237:St8sia3 UTSW 18 64269815 missense probably damaging 1.00
R4792:St8sia3 UTSW 18 64265563 missense probably benign 0.12
R4798:St8sia3 UTSW 18 64271749 missense probably benign 0.38
R6700:St8sia3 UTSW 18 64265381 unclassified probably benign
R6957:St8sia3 UTSW 18 64271782 missense probably benign 0.25
R7016:St8sia3 UTSW 18 64269583 missense probably benign 0.01
R7337:St8sia3 UTSW 18 64269916 missense probably benign 0.00
R7464:St8sia3 UTSW 18 64271518 missense probably damaging 1.00
R7823:St8sia3 UTSW 18 64266956 missense probably benign 0.00
Posted On2015-04-16