Incidental Mutation 'IGL01727:St6galnac2'
ID278807
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 #IGL01727
Quality Score
Status
Chromosome11
Chromosomal Location116677483-116681290 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 116685119 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 169 (D169N)
Ref Sequence ENSEMBL: ENSMUSP00000078501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079545] [ENSMUST00000144398]
Predicted Effect probably damaging
Transcript: ENSMUST00000079545
AA Change: D169N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078501
Gene: ENSMUSG00000057286
AA Change: D169N

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Glyco_transf_29 90 373 2.9e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123236
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129236
Predicted Effect probably benign
Transcript: ENSMUST00000144398
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 C T 11: 46,121,553 A292V probably benign Het
Ankrd26 A G 6: 118,511,636 L1354P probably damaging Het
Aox1 T A 1: 58,073,228 C720* probably null Het
Aqp5 T C 15: 99,591,621 L117P probably damaging Het
BC005561 A G 5: 104,519,513 T634A probably benign Het
Col9a3 T C 2: 180,616,565 probably null Het
Ctrc T C 4: 141,843,761 Y56C probably damaging Het
Dsc2 T A 18: 20,038,200 T581S probably benign Het
Grap2 T C 15: 80,634,409 I51T probably damaging Het
Herc2 A G 7: 56,137,806 Y1737C probably damaging Het
Hook3 A G 8: 26,070,159 M346T probably benign Het
Lancl1 C T 1: 67,020,942 C108Y probably damaging Het
Lpin2 T C 17: 71,246,452 C824R probably damaging Het
Mlip T C 9: 77,239,748 S88G probably damaging Het
Mtdh T G 15: 34,083,109 L25R probably damaging Het
Musk A G 4: 58,303,887 I177V probably benign Het
Nov G A 15: 54,746,238 A45T probably benign Het
Olfr1148 T C 2: 87,833,500 S154P probably damaging Het
Olfr1186 A G 2: 88,525,927 M115V probably benign Het
Olfr1504 A G 19: 13,887,878 C111R probably damaging Het
Pabpc4l C A 3: 46,446,665 E181D probably damaging Het
Pcdh18 A G 3: 49,755,700 S389P probably damaging Het
Ptk7 A G 17: 46,572,548 Y864H probably damaging Het
Rbp4 A G 19: 38,124,052 V155A probably benign Het
Rilpl1 C T 5: 124,530,944 A14T possibly damaging Het
Rnf148 T A 6: 23,655,002 probably benign Het
Rnf219 G A 14: 104,479,387 R517* probably null Het
Ska2 T A 11: 87,116,147 L26Q probably damaging Het
Slc29a2 T A 19: 5,026,458 F125I probably damaging Het
Smap2 A G 4: 120,982,208 probably benign Het
Supt7l A G 5: 31,520,342 V160A possibly damaging Het
Susd1 A G 4: 59,412,329 probably benign Het
Syne1 T C 10: 5,047,842 D375G probably damaging Het
Tpst2 G A 5: 112,309,858 D351N probably damaging Het
Trcg1 T A 9: 57,242,594 I483N probably damaging Het
Trcg1 T C 9: 57,242,273 I376T probably benign Het
Tsga10 T C 1: 37,835,274 E148G probably damaging Het
Zranb1 G T 7: 132,966,620 D336Y probably damaging 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
IGL01733:St6galnac2 APN 11 116685119 missense probably damaging 1.00
IGL03353:St6galnac2 APN 11 116690302 splice site probably benign
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 On2015-04-16