Incidental Mutation 'R0733:St8sia2'
ID 67108
Institutional Source Beutler Lab
Gene Symbol St8sia2
Ensembl Gene ENSMUSG00000025789
Gene Name ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2
Synonyms ST8SiaII, Siat8b
MMRRC Submission 038914-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R0733 (G1)
Quality Score 203
Status Validated
Chromosome 7
Chromosomal Location 73588867-73663408 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 73610588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 232 (G232S)
Ref Sequence ENSEMBL: ENSMUSP00000026896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026896] [ENSMUST00000191970]
AlphaFold O35696
Predicted Effect probably benign
Transcript: ENSMUST00000026896
AA Change: G232S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026896
Gene: ENSMUSG00000025789
AA Change: G232S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 25 39 N/A INTRINSIC
Pfam:Glyco_transf_29 109 369 2.7e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191751
Predicted Effect probably benign
Transcript: ENSMUST00000191970
SMART Domains Protein: ENSMUSP00000141307
Gene: ENSMUSG00000025789

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 25 38 N/A INTRINSIC
Pfam:Glyco_transf_29 84 206 5.8e-36 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 98% (60/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II membrane protein that is thought to catalyze the transfer of sialic acid from CMP-sialic acid to N-linked oligosaccharides and glycoproteins. The encoded protein may be found in the Golgi apparatus and may be involved in the production of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). This protein is a member of glycosyltransferase family 29. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display abnormal mossy fiber morphology, increased exploration in new environment and impaired fear responses. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 A G 2: 31,668,957 (GRCm39) Y88C probably damaging Het
Acbd3 A G 1: 180,579,783 (GRCm39) I476V possibly damaging Het
Apba2 T C 7: 64,399,912 (GRCm39) I689T probably damaging Het
AU018091 A G 7: 3,209,001 (GRCm39) Y362H probably damaging Het
Castor2 T C 5: 134,165,054 (GRCm39) F208L possibly damaging Het
Cdh26 T C 2: 178,128,724 (GRCm39) S759P probably damaging Het
Clcc1 A G 3: 108,582,056 (GRCm39) Q387R probably benign Het
Cobl C T 11: 12,315,167 (GRCm39) G259R probably benign Het
Col4a1 C T 8: 11,268,934 (GRCm39) R968Q possibly damaging Het
Ddr2 A G 1: 169,832,381 (GRCm39) probably benign Het
Dera C A 6: 137,773,846 (GRCm39) N201K probably damaging Het
Dsg1a A C 18: 20,471,725 (GRCm39) E659A probably damaging Het
Dus2 G T 8: 106,772,702 (GRCm39) probably null Het
Ears2 T A 7: 121,647,352 (GRCm39) I311F possibly damaging Het
Eml4 T A 17: 83,761,893 (GRCm39) M417K possibly damaging Het
Exosc4 A T 15: 76,213,616 (GRCm39) M147L probably benign Het
Fam171a2 T A 11: 102,330,548 (GRCm39) Y278F possibly damaging Het
Fastk A C 5: 24,648,921 (GRCm39) H155Q probably null Het
Fem1b G T 9: 62,704,125 (GRCm39) N378K possibly damaging Het
Fut11 C A 14: 20,745,427 (GRCm39) Y119* probably null Het
Gm6797 T C X: 8,511,388 (GRCm39) noncoding transcript Het
Gstt4 T C 10: 75,653,148 (GRCm39) D138G probably benign Het
Hprt1 G A X: 52,091,027 (GRCm39) C66Y probably damaging Het
Inpp5d T A 1: 87,595,799 (GRCm39) probably benign Het
Ints6l T A X: 55,547,108 (GRCm39) S621T probably benign Het
Ints6l C G X: 55,550,172 (GRCm39) A699G probably benign Het
Kctd3 A G 1: 188,729,247 (GRCm39) probably benign Het
Kntc1 G T 5: 123,928,979 (GRCm39) V1252L probably null Het
Lama5 A T 2: 179,822,511 (GRCm39) M2854K possibly damaging Het
Lcn5 G T 2: 25,551,113 (GRCm39) L187F probably damaging Het
Lrp3 A T 7: 34,901,545 (GRCm39) L758M possibly damaging Het
Ltn1 T A 16: 87,209,395 (GRCm39) I740F probably benign Het
Mcm5 A G 8: 75,853,876 (GRCm39) K710R probably benign Het
Mllt10 A G 2: 18,208,577 (GRCm39) probably benign Het
Nbr1 T A 11: 101,467,197 (GRCm39) M864K probably benign Het
Nkiras2 T C 11: 100,515,758 (GRCm39) probably null Het
Nlrp4d T A 7: 10,116,449 (GRCm39) E144V probably benign Het
Nppc T C 1: 86,597,356 (GRCm39) probably benign Het
Ormdl2 T A 10: 128,655,868 (GRCm39) Q94L probably damaging Het
Paox G C 7: 139,707,440 (GRCm39) D88H probably damaging Het
Prl7a2 T C 13: 27,846,671 (GRCm39) E114G probably damaging Het
Prpsap2 A G 11: 61,631,826 (GRCm39) I177T possibly damaging Het
Prss54 T C 8: 96,286,368 (GRCm39) D235G possibly damaging Het
Rwdd3 T C 3: 120,965,256 (GRCm39) M24V probably benign Het
Serpinb6e T A 13: 34,025,201 (GRCm39) N30I probably benign Het
Sh3rf1 G A 8: 61,825,594 (GRCm39) A530T probably benign Het
Slc28a1 T C 7: 80,774,648 (GRCm39) I165T probably benign Het
Slco6d1 T A 1: 98,355,994 (GRCm39) L143* probably null Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Snx27 A G 3: 94,469,320 (GRCm39) L7P probably benign Het
Spata31e2 T A 1: 26,722,013 (GRCm39) T1056S possibly damaging Het
Spsb1 C T 4: 149,991,374 (GRCm39) V65I probably benign Het
Sun1 A G 5: 139,216,918 (GRCm39) H255R possibly damaging Het
Tent2 T A 13: 93,291,547 (GRCm39) Q365L probably benign Het
Ube2k A G 5: 65,738,795 (GRCm39) I95V probably damaging Het
Ube2m C A 7: 12,769,679 (GRCm39) E126D probably damaging Het
Vmn2r27 A T 6: 124,169,147 (GRCm39) M661K probably benign Het
Wdr47 A T 3: 108,525,939 (GRCm39) D154V probably damaging Het
Zfp113 A G 5: 138,143,845 (GRCm39) V135A probably benign Het
Other mutations in St8sia2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02161:St8sia2 APN 7 73,626,430 (GRCm39) missense probably benign 0.00
IGL02261:St8sia2 APN 7 73,616,594 (GRCm39) missense probably damaging 1.00
IGL02941:St8sia2 APN 7 73,626,397 (GRCm39) intron probably benign
IGL02971:St8sia2 APN 7 73,616,559 (GRCm39) missense probably damaging 1.00
BB001:St8sia2 UTSW 7 73,616,700 (GRCm39) missense probably damaging 1.00
BB011:St8sia2 UTSW 7 73,616,700 (GRCm39) missense probably damaging 1.00
IGL03147:St8sia2 UTSW 7 73,616,567 (GRCm39) missense probably damaging 1.00
R0052:St8sia2 UTSW 7 73,621,700 (GRCm39) missense probably damaging 1.00
R0052:St8sia2 UTSW 7 73,593,038 (GRCm39) nonsense probably null
R0052:St8sia2 UTSW 7 73,593,038 (GRCm39) nonsense probably null
R1202:St8sia2 UTSW 7 73,621,783 (GRCm39) missense probably benign 0.43
R1419:St8sia2 UTSW 7 73,616,742 (GRCm39) nonsense probably null
R1962:St8sia2 UTSW 7 73,593,057 (GRCm39) missense probably damaging 1.00
R2051:St8sia2 UTSW 7 73,592,950 (GRCm39) missense possibly damaging 0.91
R4106:St8sia2 UTSW 7 73,610,509 (GRCm39) missense probably damaging 1.00
R4989:St8sia2 UTSW 7 73,616,709 (GRCm39) missense possibly damaging 0.75
R5541:St8sia2 UTSW 7 73,616,648 (GRCm39) missense probably benign 0.00
R5859:St8sia2 UTSW 7 73,616,654 (GRCm39) missense probably damaging 1.00
R6029:St8sia2 UTSW 7 73,610,458 (GRCm39) missense possibly damaging 0.96
R6260:St8sia2 UTSW 7 73,626,441 (GRCm39) missense possibly damaging 0.56
R6416:St8sia2 UTSW 7 73,621,669 (GRCm39) missense probably damaging 1.00
R7371:St8sia2 UTSW 7 73,616,675 (GRCm39) missense probably damaging 0.99
R7424:St8sia2 UTSW 7 73,610,650 (GRCm39) missense possibly damaging 0.66
R7763:St8sia2 UTSW 7 73,593,069 (GRCm39) missense probably damaging 1.00
R7924:St8sia2 UTSW 7 73,616,700 (GRCm39) missense probably damaging 1.00
R8688:St8sia2 UTSW 7 73,593,092 (GRCm39) missense probably damaging 1.00
R9137:St8sia2 UTSW 7 73,610,654 (GRCm39) missense probably benign 0.03
R9139:St8sia2 UTSW 7 73,616,513 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGCTGATGGAGGCTCAACAAGG -3'
(R):5'- TATTCCTCAGGTGCAACCTGGCTC -3'

Sequencing Primer
(F):5'- CAAGGCTTGCTAAGAGCATTC -3'
(R):5'- CTCCAGTTCAGGAGTATGCC -3'
Posted On 2013-09-03