Incidental Mutation 'IGL03353:St6galnac2'
ID419824
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol St6galnac2
Ensembl Gene ENSMUSG00000110170
Gene NameST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2
SynonymsSiat7b, ST6GalNAc II, Siat7
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock #IGL03353
Quality Score
Status
Chromosome11
Chromosomal Location116677483-116681290 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 116690302 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000078501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079545]
Predicted Effect probably benign
Transcript: ENSMUST00000079545
SMART Domains Protein: ENSMUSP00000078501
Gene: ENSMUSG00000057286

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Glyco_transf_29 90 373 2.9e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129236
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145441
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ST6GALNAC2 belongs to a family of sialyltransferases that add sialic acids to the nonreducing ends of glycoconjugates. At the cell surface, these modifications have roles in cell-cell and cell-substrate interactions, bacterial adhesion, and protein targeting (Samyn-Petit et al., 2000 [PubMed 10742600]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knockout allele exhibit decreased body weight, decreased IgQ, increased B cell proliferation, increased pre-B cell number, abnormal erythropoiesis, increased ALT, decreased creatinine level and prominent spleen germinal center. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 A G 4: 40,175,893 I176V probably damaging Het
Aldh1l2 T C 10: 83,522,913 T73A probably benign Het
Btaf1 G T 19: 36,992,500 L1191F probably damaging Het
Caskin1 G A 17: 24,499,357 probably benign Het
Clcn3 T C 8: 60,922,988 T624A probably benign Het
Dicer1 A G 12: 104,713,107 V537A probably damaging Het
Dock4 A G 12: 40,817,758 probably null Het
Dsp A T 13: 38,186,695 Y858F probably damaging Het
Eya1 A G 1: 14,179,527 Y550H probably damaging Het
Frmpd1 A G 4: 45,261,926 K204E probably damaging Het
Frrs1l G A 4: 56,968,121 T217M probably damaging Het
Fsip2 G A 2: 82,977,393 S1352N possibly damaging Het
Hfm1 T C 5: 106,856,929 D1177G probably damaging Het
Itih4 G A 14: 30,887,844 V44I probably damaging Het
Kif2c A G 4: 117,166,336 M393T probably benign Het
Klhdc10 T A 6: 30,447,992 probably benign Het
Lrch1 G T 14: 74,858,042 H119Q probably damaging Het
Ncam2 A T 16: 81,434,900 N84I probably benign Het
Nlrx1 A G 9: 44,256,593 V669A probably benign Het
Pdcl3 A G 1: 38,995,836 N158S probably benign Het
Polk C T 13: 96,489,211 A362T probably damaging Het
Rnf40 T A 7: 127,592,891 L403* probably null Het
Skint5 T C 4: 113,742,182 D720G unknown Het
Snx6 A G 12: 54,765,684 probably benign Het
Stk26 A T X: 50,870,398 D62V probably damaging Het
Tgds G A 14: 118,127,507 Q101* probably null Het
Tmem135 C A 7: 89,141,953 R421L probably damaging Het
Tspyl4 T A 10: 34,298,139 V209E probably damaging Het
Tulp2 C A 7: 45,516,272 P98Q probably damaging Het
Txk C T 5: 72,736,402 V12I probably benign Het
Usp30 A G 5: 114,121,058 T398A probably benign Het
Vmn1r8 A G 6: 57,036,791 T276A probably benign Het
Xdh G A 17: 73,895,786 A1123V possibly damaging Het
Zfp60 T A 7: 27,748,334 Y142* probably null Het
Other mutations in St6galnac2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01714:St6galnac2 APN 11 116685119 missense probably damaging 1.00
IGL01726:St6galnac2 APN 11 116685119 missense probably damaging 1.00
IGL01727:St6galnac2 APN 11 116685119 missense probably damaging 1.00
IGL01733:St6galnac2 APN 11 116685119 missense probably damaging 1.00
R1521:St6galnac2 UTSW 11 116684347 missense possibly damaging 0.79
R1524:St6galnac2 UTSW 11 116684487 unclassified probably benign
R1855:St6galnac2 UTSW 11 116690315 missense probably benign 0.02
R2307:St6galnac2 UTSW 11 116681905 missense probably damaging 1.00
R4079:St6galnac2 UTSW 11 116681898 missense possibly damaging 0.69
R4658:St6galnac2 UTSW 11 116684525 unclassified probably benign
R5174:St6galnac2 UTSW 11 116681947 missense probably damaging 0.99
R5436:St6galnac2 UTSW 11 116684527 unclassified probably benign
R5655:St6galnac2 UTSW 11 116685146 missense probably damaging 1.00
R6584:St6galnac2 UTSW 11 116694504 missense probably benign 0.06
R6702:St6galnac2 UTSW 11 116684387 missense probably benign 0.38
R6703:St6galnac2 UTSW 11 116684387 missense probably benign 0.38
R7090:St6galnac2 UTSW 11 116677635 missense probably damaging 1.00
R7368:St6galnac2 UTSW 11 116679979 missense probably damaging 1.00
R7607:St6galnac2 UTSW 11 116679979 missense probably damaging 1.00
R7728:St6galnac2 UTSW 11 116679985 missense probably benign 0.02
R7751:St6galnac2 UTSW 11 116677584 missense probably damaging 1.00
R7851:St6galnac2 UTSW 11 116685938 missense probably benign 0.04
R7970:St6galnac2 UTSW 11 116690343 missense probably benign
R8191:St6galnac2 UTSW 11 116681922 missense probably damaging 1.00
Posted On2016-08-02