Incidental Mutation 'IGL02153:St8sia6'
ID282131
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol St8sia6
Ensembl Gene ENSMUSG00000003418
Gene NameST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6
SynonymsSiat8f, ST8Sia VI, 1700007J08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.049) question?
Stock #IGL02153
Quality Score
Status
Chromosome2
Chromosomal Location13651021-13794064 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 13656905 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 372 (M372V)
Ref Sequence ENSEMBL: ENSMUSP00000003509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003509]
Predicted Effect probably damaging
Transcript: ENSMUST00000003509
AA Change: M372V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003509
Gene: ENSMUSG00000003418
AA Change: M372V

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Glyco_transf_29 138 393 4.2e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150781
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycosyltransferase 29 protein family. Members of this protein family synthesize sialylglycoconjugates. Sialylation may contribute to multidrug resistance in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T C 2: 152,441,241 I275T probably benign Het
BC005561 A G 5: 104,521,083 E1157G probably benign Het
Chd9 A T 8: 90,956,494 K521* probably null Het
Csn3 A T 5: 87,930,097 N154I possibly damaging Het
Dock2 A G 11: 34,230,670 S1716P probably benign Het
Dock7 A T 4: 98,958,067 S18T probably benign Het
Esrra G A 19: 6,913,822 T190I probably benign Het
F13b T C 1: 139,516,377 I483T probably damaging Het
Foxb1 T A 9: 69,759,703 M182L probably benign Het
Fsip2 T C 2: 82,978,721 F1795L probably benign Het
Gkn2 G A 6: 87,373,408 probably null Het
Gm8439 G A 4: 120,609,590 A93T unknown Het
Ift22 T C 5: 136,911,696 S72P probably benign Het
Kcnmb2 A G 3: 32,178,844 K24E probably damaging Het
Kcnq3 C A 15: 66,025,191 V287L probably damaging Het
Lrriq1 T A 10: 103,170,479 M1262L probably benign Het
Mb21d2 A G 16: 28,929,488 I59T probably benign Het
Mogat2 A T 7: 99,223,554 M141K possibly damaging Het
Mtdh C T 15: 34,131,250 L409F possibly damaging Het
Muc5ac C T 7: 141,818,800 Q2724* probably null Het
Myo15 T G 11: 60,498,397 L2040R probably damaging Het
Nodal C T 10: 61,424,545 T325I probably damaging Het
Pappa A T 4: 65,297,437 T1194S probably damaging Het
Pcdhb13 A C 18: 37,443,685 D372A probably damaging Het
Phf14 T A 6: 11,934,016 N292K probably damaging Het
Pigr T A 1: 130,849,056 probably null Het
Plcb1 T C 2: 135,387,853 I1131T probably benign Het
Plch1 T A 3: 63,781,351 D132V probably damaging Het
Plxnb2 C A 15: 89,165,813 E502* probably null Het
Prox2 T C 12: 85,087,929 N526S probably damaging Het
Rdm1 T A 11: 101,628,454 probably null Het
Rxfp1 C T 3: 79,660,120 E308K probably benign Het
Sgca T C 11: 94,963,284 T120A probably damaging Het
Sh3tc1 G A 5: 35,703,352 R1054W probably damaging Het
Smarcal1 C T 1: 72,633,055 probably benign Het
Spata45 T A 1: 191,039,761 M60K probably benign Het
Tas2r126 T G 6: 42,434,664 S44A probably benign Het
Tcea3 T A 4: 136,273,634 probably benign Het
Tln1 T C 4: 43,546,857 I840V possibly damaging Het
Ttn T C 2: 76,898,341 probably benign Het
Ubr4 T A 4: 139,460,160 Y3846* probably null Het
Usp47 G A 7: 112,104,049 D1171N probably benign Het
Vmn2r114 G A 17: 23,291,808 T566I probably benign Het
Wdr35 G A 12: 9,008,535 R575Q probably null Het
Xkr5 A T 8: 18,933,667 C454S probably benign Het
Other mutations in St8sia6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:St8sia6 APN 2 13665507 missense probably damaging 1.00
IGL02302:St8sia6 APN 2 13723513 missense probably benign 0.01
IGL02338:St8sia6 APN 2 13793345 missense probably damaging 0.97
R0395:St8sia6 UTSW 2 13665436 missense probably damaging 1.00
R0621:St8sia6 UTSW 2 13657282 missense probably damaging 0.99
R0736:St8sia6 UTSW 2 13668885 missense probably benign 0.12
R0969:St8sia6 UTSW 2 13696869 missense probably benign 0.00
R1258:St8sia6 UTSW 2 13656884 missense probably benign 0.00
R1587:St8sia6 UTSW 2 13672605 missense possibly damaging 0.85
R1931:St8sia6 UTSW 2 13792812 missense probably benign 0.00
R3717:St8sia6 UTSW 2 13656934 missense possibly damaging 0.79
R3892:St8sia6 UTSW 2 13672524 missense probably benign 0.00
R4518:St8sia6 UTSW 2 13792751 splice site probably null
R4763:St8sia6 UTSW 2 13672530 missense probably damaging 0.97
R4933:St8sia6 UTSW 2 13665442 missense probably damaging 1.00
R5323:St8sia6 UTSW 2 13793377 missense possibly damaging 0.64
R7199:St8sia6 UTSW 2 13656910 missense probably damaging 1.00
Z1176:St8sia6 UTSW 2 13696853 missense possibly damaging 0.79
Posted On2015-04-16