Incidental Mutation 'R3237:St8sia3'
ID 259121
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 040619-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R3237 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 64387430-64409217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64402886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 175 (F175S)
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: F231S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025477
Gene: ENSMUSG00000056812
AA Change: F231S

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: F175S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121367
Gene: ENSMUSG00000056812
AA Change: F175S

DomainStartEndE-ValueType
Pfam:Glyco_transf_29 53 229 2e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140903
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.4%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aff2 T A X: 68,907,543 (GRCm39) V1175E possibly damaging Het
Agbl3 A G 6: 34,800,022 (GRCm39) probably null Het
Bcar3 C A 3: 122,318,645 (GRCm39) Q678K probably benign Het
Ccm2 G A 11: 6,520,090 (GRCm39) V53I probably benign Het
Cd3e G T 9: 44,913,608 (GRCm39) C42* probably null Het
Cd4 A T 6: 124,844,633 (GRCm39) I384N probably benign Het
Ceacam11 T A 7: 17,707,379 (GRCm39) F54L probably benign Het
Cfap46 A G 7: 139,197,506 (GRCm39) S2122P probably damaging Het
Clptm1 A G 7: 19,369,271 (GRCm39) S461P probably damaging Het
Dlat T C 9: 50,549,331 (GRCm39) T518A possibly damaging Het
Dnah17 T C 11: 117,985,680 (GRCm39) T1466A probably benign Het
Dnah9 G A 11: 65,845,815 (GRCm39) T3023I probably benign Het
Fam181a T G 12: 103,282,348 (GRCm39) C84W possibly damaging Het
Gask1a C T 9: 121,793,935 (GRCm39) P30S possibly damaging Het
H2-Q6 C A 17: 35,644,676 (GRCm39) T155K probably damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Inpp5b A G 4: 124,674,279 (GRCm39) R329G probably benign Het
Klrb1f A T 6: 129,031,306 (GRCm39) I168L possibly damaging Het
Lama4 A T 10: 38,973,175 (GRCm39) I1581F probably damaging Het
Lipn A G 19: 34,046,138 (GRCm39) N37S probably benign Het
Lyzl4 T C 9: 121,413,233 (GRCm39) D65G probably benign Het
Med29 A G 7: 28,092,046 (GRCm39) probably benign Het
Myrip C A 9: 120,270,473 (GRCm39) D574E possibly damaging Het
N4bp3 A T 11: 51,536,761 (GRCm39) F104Y probably damaging Het
Nlrp9a A T 7: 26,270,810 (GRCm39) K892* probably null Het
Nsd1 T A 13: 55,460,701 (GRCm39) H2309Q possibly damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Optn T C 2: 5,039,014 (GRCm39) S370G probably damaging Het
Pbrm1 T C 14: 30,754,432 (GRCm39) F151L probably damaging Het
Plekhs1 A T 19: 56,453,032 (GRCm39) probably null Het
Rpn1 A G 6: 88,080,396 (GRCm39) K565R probably benign Het
Rrh T C 3: 129,605,360 (GRCm39) Y110C probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr1 C T 7: 28,769,075 (GRCm39) probably null Het
Scai C T 2: 39,040,326 (GRCm39) probably benign Het
Scap C G 9: 110,208,650 (GRCm39) P564A probably damaging Het
Setdb1 A G 3: 95,246,065 (GRCm39) V619A probably damaging Het
Slc41a3 T C 6: 90,613,847 (GRCm39) Y226H probably benign Het
Slf2 A G 19: 44,930,773 (GRCm39) I617V probably benign Het
Sned1 G A 1: 93,186,725 (GRCm39) R180Q probably benign Het
Spata22 T A 11: 73,236,713 (GRCm39) F340I probably damaging Het
Supt20 T C 3: 54,616,501 (GRCm39) S253P possibly damaging Het
Syngap1 T A 17: 27,176,067 (GRCm39) Y118* probably null Het
Szt2 A C 4: 118,240,231 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Uba3 G T 6: 97,163,201 (GRCm39) T319K probably damaging Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Zc3hav1 A G 6: 38,296,650 (GRCm39) L751S probably damaging Het
Zfp804b T C 5: 6,819,239 (GRCm39) M1275V probably benign Het
Zgrf1 A G 3: 127,407,024 (GRCm39) D1597G probably damaging 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
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
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'- TGTCGCCCATTATGAATAAGCG -3'
(R):5'- CACACCTGTTGACATGTTGC -3'

Sequencing Primer
(F):5'- TGGTTGGAAACAGTGGAATCTTGAC -3'
(R):5'- TGCATGATATTTCCAGGCCAAGC -3'
Posted On 2015-01-23