Incidental Mutation 'IGL03407:St8sia1'
ID 421639
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol St8sia1
Ensembl Gene ENSMUSG00000030283
Gene Name ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1
Synonyms GD3S, GD3 synthase, Siat8, ST8Sia I, alpha-2,8-sialyltransferase, Siat8a, 9330109E03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL03407
Quality Score
Status
Chromosome 6
Chromosomal Location 142767271-142910178 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142859775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 118 (N118S)
Ref Sequence ENSEMBL: ENSMUSP00000032421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032421] [ENSMUST00000205149]
AlphaFold Q64687
Predicted Effect possibly damaging
Transcript: ENSMUST00000032421
AA Change: N118S

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032421
Gene: ENSMUSG00000030283
AA Change: N118S

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
Pfam:Glyco_transf_29 90 344 8.1e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205149
SMART Domains Protein: ENSMUSP00000145148
Gene: ENSMUSG00000030283

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
transmembrane domain 76 95 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygotes for a targeted allele are behaviorally normal with no signs of aberrant brain histology or demyelination. Homozygotes for a knock-out allele are behaviorally intact with normal nervous tissue morphology and sensitivity to Fas-mediated apoptosis but show impaired repair of damaged nerves. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,904,111 (GRCm39) V198A probably benign Het
Acot3 A T 12: 84,105,415 (GRCm39) D294V probably damaging Het
Dnajc10 T C 2: 80,176,985 (GRCm39) Y647H probably damaging Het
Eml6 G A 11: 29,856,330 (GRCm39) L67F probably damaging Het
Fbxw8 A G 5: 118,280,741 (GRCm39) C139R probably damaging Het
Fscb G T 12: 64,520,269 (GRCm39) A399D probably damaging Het
Gm21726 T C 13: 90,731,760 (GRCm39) noncoding transcript Het
Lama2 A T 10: 27,223,017 (GRCm39) V423D probably damaging Het
Mctp2 A T 7: 71,861,400 (GRCm39) I415N probably benign Het
Myh13 A G 11: 67,242,978 (GRCm39) T964A probably damaging Het
Ncf4 A G 15: 78,138,981 (GRCm39) probably benign Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Or3a1d G T 11: 74,238,371 (GRCm39) T13K possibly damaging Het
Or51m1 A T 7: 103,578,158 (GRCm39) N43Y probably damaging Het
Plch2 A T 4: 155,074,255 (GRCm39) V870E probably damaging Het
Prss55 A T 14: 64,314,539 (GRCm39) D210E probably damaging Het
Rad51ap2 A G 12: 11,507,198 (GRCm39) I373M possibly damaging Het
Rbm12 C A 2: 155,939,484 (GRCm39) G263* probably null Het
Rnf167 G T 11: 70,541,879 (GRCm39) probably null Het
Scn10a A G 9: 119,477,237 (GRCm39) I715T probably damaging Het
Spata31f1a A T 4: 42,850,528 (GRCm39) W543R probably benign Het
Tas1r3 A G 4: 155,946,439 (GRCm39) probably null Het
Thbs2 A G 17: 14,893,535 (GRCm39) S882P probably benign Het
Tmem25 A G 9: 44,707,636 (GRCm39) S220P probably damaging Het
Tnpo1 C T 13: 99,000,348 (GRCm39) E340K probably damaging Het
Trex1 C T 9: 108,887,395 (GRCm39) G199S probably damaging Het
Ttn T C 2: 76,544,545 (GRCm39) I32814V probably damaging Het
Vmn2r15 T A 5: 109,434,185 (GRCm39) R840* probably null Het
Vps13b A T 15: 35,640,012 (GRCm39) Q1294L possibly damaging Het
Zdhhc7 T C 8: 120,812,131 (GRCm39) N164D probably damaging Het
Other mutations in St8sia1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02081:St8sia1 APN 6 142,774,953 (GRCm39) missense probably benign 0.00
IGL02138:St8sia1 APN 6 142,909,504 (GRCm39) utr 5 prime probably benign
IGL02419:St8sia1 APN 6 142,774,661 (GRCm39) missense probably damaging 1.00
PIT4453001:St8sia1 UTSW 6 142,774,978 (GRCm39) nonsense probably null
PIT4498001:St8sia1 UTSW 6 142,859,848 (GRCm39) missense probably damaging 1.00
R0167:St8sia1 UTSW 6 142,859,907 (GRCm39) splice site probably benign
R0690:St8sia1 UTSW 6 142,774,980 (GRCm39) missense probably damaging 1.00
R1727:St8sia1 UTSW 6 142,822,453 (GRCm39) missense probably damaging 0.99
R1743:St8sia1 UTSW 6 142,774,742 (GRCm39) missense probably damaging 1.00
R1937:St8sia1 UTSW 6 142,909,398 (GRCm39) missense probably damaging 1.00
R2923:St8sia1 UTSW 6 142,774,963 (GRCm39) missense probably damaging 1.00
R2983:St8sia1 UTSW 6 142,909,355 (GRCm39) missense probably damaging 0.99
R3824:St8sia1 UTSW 6 142,774,751 (GRCm39) missense probably damaging 1.00
R4803:St8sia1 UTSW 6 142,813,649 (GRCm39) missense probably benign 0.04
R4844:St8sia1 UTSW 6 142,774,996 (GRCm39) missense possibly damaging 0.82
R4865:St8sia1 UTSW 6 142,774,796 (GRCm39) missense probably damaging 1.00
R4886:St8sia1 UTSW 6 142,859,860 (GRCm39) missense probably damaging 0.99
R5170:St8sia1 UTSW 6 142,909,434 (GRCm39) missense probably damaging 0.99
R5519:St8sia1 UTSW 6 142,909,287 (GRCm39) missense probably damaging 0.99
R5783:St8sia1 UTSW 6 142,909,340 (GRCm39) missense possibly damaging 0.83
R6713:St8sia1 UTSW 6 142,775,008 (GRCm39) splice site probably null
R7017:St8sia1 UTSW 6 142,813,632 (GRCm39) missense probably damaging 0.98
R7144:St8sia1 UTSW 6 142,822,395 (GRCm39) missense probably damaging 1.00
R7997:St8sia1 UTSW 6 142,909,376 (GRCm39) missense probably damaging 1.00
Z1176:St8sia1 UTSW 6 142,774,825 (GRCm39) missense probably damaging 1.00
Z1177:St8sia1 UTSW 6 142,774,536 (GRCm39) nonsense probably null
Posted On 2016-08-02