Incidental Mutation 'IGL02138:St8sia1'
ID 281438
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 # IGL02138
Quality Score
Chromosome 6
Chromosomal Location 142767271-142910178 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) G to T at 142909504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032421] [ENSMUST00000205149]
AlphaFold Q64687
Predicted Effect probably benign
Transcript: ENSMUST00000032421
SMART Domains Protein: ENSMUSP00000032421
Gene: ENSMUSG00000030283

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

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T G 14: 32,384,672 (GRCm39) D431A possibly damaging Het
Adgrb1 T C 15: 74,401,631 (GRCm39) M209T probably damaging Het
Ano8 T C 8: 71,937,486 (GRCm39) H86R probably damaging Het
Camk1d G T 2: 5,449,895 (GRCm39) Y87* probably null Het
Capza3 A G 6: 139,987,872 (GRCm39) D157G probably benign Het
Ckmt2 A T 13: 92,009,947 (GRCm39) D124E probably benign Het
Col14a1 C A 15: 55,284,231 (GRCm39) Q831K unknown Het
Copb2 C T 9: 98,469,605 (GRCm39) P829S probably benign Het
Dlg5 A G 14: 24,208,419 (GRCm39) V929A probably benign Het
Dolk A G 2: 30,175,991 (GRCm39) V18A probably benign Het
Ecm2 G T 13: 49,676,304 (GRCm39) L340F probably damaging Het
Hacl1 A G 14: 31,352,940 (GRCm39) L149P probably benign Het
Higd2a A T 13: 54,738,235 (GRCm39) probably null Het
Hspa12a A T 19: 58,816,730 (GRCm39) S28R probably benign Het
Igkv5-37 A G 6: 69,940,435 (GRCm39) Y70H probably damaging Het
Iho1 G A 9: 108,283,820 (GRCm39) T208I probably benign Het
Kif11 T C 19: 37,373,057 (GRCm39) V92A probably damaging Het
Kif26a T C 12: 112,141,284 (GRCm39) S696P probably damaging Het
Kng1 A T 16: 22,886,558 (GRCm39) N168Y probably damaging Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Lepr A G 4: 101,625,264 (GRCm39) D473G probably damaging Het
Lipt1 G A 1: 37,914,867 (GRCm39) E308K possibly damaging Het
Luc7l3 A T 11: 94,194,792 (GRCm39) F76Y probably benign Het
Mapk1 A G 16: 16,841,316 (GRCm39) I163V probably benign Het
Matn3 A G 12: 9,017,638 (GRCm39) E430G possibly damaging Het
Med13 A T 11: 86,177,591 (GRCm39) S1502T probably damaging Het
Mlf1 A T 3: 67,307,046 (GRCm39) H237L probably benign Het
Mss51 A C 14: 20,534,923 (GRCm39) Y282* probably null Het
Ncoa3 A G 2: 165,897,182 (GRCm39) T658A probably benign Het
Or1p1c A T 11: 74,160,544 (GRCm39) M110L probably benign Het
Or7d11 A T 9: 19,966,196 (GRCm39) S188T probably benign Het
Phrf1 T A 7: 140,839,196 (GRCm39) probably benign Het
Ppme1 C T 7: 99,983,139 (GRCm39) M335I probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Sntg2 T A 12: 30,357,230 (GRCm39) probably null Het
Spryd3 T C 15: 102,027,354 (GRCm39) probably benign Het
Srpx A G X: 9,933,662 (GRCm39) probably null Het
Stab1 A G 14: 30,865,470 (GRCm39) probably null Het
Sycp2 A T 2: 178,000,047 (GRCm39) S976R probably benign Het
Sycp2 T A 2: 178,043,783 (GRCm39) K108* probably null Het
Tagap1 T C 17: 7,223,485 (GRCm39) T404A probably damaging Het
Tg C T 15: 66,589,082 (GRCm39) T21I probably benign Het
Tlr4 A T 4: 66,759,202 (GRCm39) Y665F probably damaging Het
Tmc8 T G 11: 117,682,081 (GRCm39) S525A probably benign Het
Tor4a A T 2: 25,084,810 (GRCm39) D364E probably benign Het
Trim44 T C 2: 102,211,253 (GRCm39) I236V probably benign Het
Ube2o A G 11: 116,434,226 (GRCm39) probably benign Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Xirp2 A T 2: 67,347,300 (GRCm39) R3180S probably benign Het
Zfp335 A G 2: 164,735,724 (GRCm39) C1077R probably damaging Het
Other mutations in St8sia1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02081:St8sia1 APN 6 142,774,953 (GRCm39) missense probably benign 0.00
IGL02419:St8sia1 APN 6 142,774,661 (GRCm39) missense probably damaging 1.00
IGL03407:St8sia1 APN 6 142,859,775 (GRCm39) missense possibly damaging 0.80
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 2015-04-16