Incidental Mutation 'R1419:St8sia2'
ID 159988
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 039475-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R1419 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 73588867-73663408 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 73616742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 78 (Q78*)
Ref Sequence ENSEMBL: ENSMUSP00000141307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026896] [ENSMUST00000191970]
AlphaFold O35696
Predicted Effect probably null
Transcript: ENSMUST00000026896
AA Change: Q99*
SMART Domains Protein: ENSMUSP00000026896
Gene: ENSMUSG00000025789
AA Change: Q99*

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 probably null
Transcript: ENSMUST00000191970
AA Change: Q78*
SMART Domains Protein: ENSMUSP00000141307
Gene: ENSMUSG00000025789
AA Change: Q78*

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
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.1%
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T A 7: 119,974,125 (GRCm39) M894K probably benign Het
Ablim1 C A 19: 57,123,065 (GRCm39) C173F probably damaging Het
Abtb2 G T 2: 103,539,765 (GRCm39) R710L probably benign Het
Arap3 T C 18: 38,111,485 (GRCm39) T1144A possibly damaging Het
Arhgef12 A T 9: 42,938,516 (GRCm39) V92D probably damaging Het
Ash1l T G 3: 88,892,204 (GRCm39) M1361R probably damaging Het
Atm A C 9: 53,368,789 (GRCm39) N2337K probably benign Het
Cog7 T C 7: 121,555,215 (GRCm39) E316G probably damaging Het
Dsp A G 13: 38,370,671 (GRCm39) Y858C probably damaging Het
Enc1 G T 13: 97,382,692 (GRCm39) G401C probably damaging Het
Gata6 T C 18: 11,064,706 (GRCm39) V506A probably benign Het
Gm16380 C T 9: 53,791,471 (GRCm39) noncoding transcript Het
Hsd17b8 G A 17: 34,246,617 (GRCm39) R89C probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ift80 T A 3: 68,847,531 (GRCm39) N322Y probably damaging Het
Igsf9 T A 1: 172,325,578 (GRCm39) V1082E probably damaging Het
Katnal2 A T 18: 77,065,128 (GRCm39) L481Q possibly damaging Het
Kcnma1 T C 14: 23,417,710 (GRCm39) T713A probably damaging Het
Kif13a T C 13: 46,978,711 (GRCm39) T230A probably damaging Het
Klhl14 C A 18: 21,785,250 (GRCm39) R59L probably damaging Het
Mecom A G 3: 30,035,038 (GRCm39) C213R probably damaging Het
Mrpl13 T A 15: 55,397,717 (GRCm39) M178L probably benign Het
Myof T C 19: 37,890,359 (GRCm39) E1971G probably damaging Het
Naa10 A G X: 72,961,522 (GRCm39) V133A probably damaging Het
Nlrp4g G A 9: 124,349,434 (GRCm38) noncoding transcript Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Oplah T C 15: 76,182,120 (GRCm39) I1047V probably benign Het
Or4a15 T C 2: 89,193,666 (GRCm39) T36A probably damaging Het
Or4k47 A T 2: 111,451,640 (GRCm39) F260I probably benign Het
Or5al1 A G 2: 85,989,773 (GRCm39) *314Q probably null Het
Paip1 A G 13: 119,593,553 (GRCm39) D189G probably damaging Het
Pkn1 A G 8: 84,400,151 (GRCm39) F624L probably damaging Het
Plxnb1 C A 9: 108,943,454 (GRCm39) P1899H probably damaging Het
Rpa3 T A 6: 8,257,720 (GRCm39) E47D probably benign Het
Shoc1 T C 4: 59,064,457 (GRCm39) T826A possibly damaging Het
Snai2 C T 16: 14,526,044 (GRCm39) H232Y possibly damaging Het
Spint5 T C 2: 164,557,331 (GRCm39) S23P possibly damaging Het
Tktl2 A G 8: 66,965,690 (GRCm39) N416S probably damaging Het
Tm7sf3 T A 6: 146,505,475 (GRCm39) I494F possibly damaging Het
Trf C T 9: 103,103,307 (GRCm39) V119M probably damaging 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
R0733:St8sia2 UTSW 7 73,610,588 (GRCm39) missense probably benign
R1202:St8sia2 UTSW 7 73,621,783 (GRCm39) missense probably benign 0.43
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

Sequencing Primer
(R):5'- gattcatcaaagtagccaaattacag -3'
Posted On 2014-03-14