Incidental Mutation 'R7607:St6galnac2'
ID 588390
Institutional Source Beutler Lab
Gene Symbol St6galnac2
Ensembl Gene ENSMUSG00000110170
Gene Name ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2
Synonyms Siat7b, ST6GalNAc II, Siat7
MMRRC Submission 045677-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R7607 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 116677483-116681290 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116679979 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 261 (Y261C)
Ref Sequence ENSEMBL: ENSMUSP00000078501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079545] [ENSMUST00000106378] [ENSMUST00000139934] [ENSMUST00000142834] [ENSMUST00000144398]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000079545
AA Change: Y261C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078501
Gene: ENSMUSG00000057286
AA Change: Y261C

transmembrane domain 7 29 N/A INTRINSIC
Pfam:Glyco_transf_29 90 373 2.9e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106378
Predicted Effect probably benign
Transcript: ENSMUST00000131260
Predicted Effect probably benign
Transcript: ENSMUST00000139934
Predicted Effect probably benign
Transcript: ENSMUST00000142834
Predicted Effect probably benign
Transcript: ENSMUST00000144398
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (69/70)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010K14Rik A T 11: 70,237,557 (GRCm38) H30Q probably damaging Het
A930009A15Rik G A 10: 115,581,989 (GRCm38) probably null Het
Abca7 T C 10: 80,011,833 (GRCm38) L1779P probably damaging Het
Aff1 G A 5: 103,849,459 (GRCm38) V1140I possibly damaging Het
Ano2 C T 6: 125,712,419 (GRCm38) A169V probably damaging Het
Atat1 T C 17: 35,909,107 (GRCm38) Y101C possibly damaging Het
Atp6v1c1 T C 15: 38,683,011 (GRCm38) probably null Het
Atp7b T G 8: 22,011,506 (GRCm38) K912T probably damaging Het
Ceacam14 T C 7: 17,814,321 (GRCm38) V112A possibly damaging Het
Cfap107 T A 4: 144,419,762 (GRCm38) H107L probably damaging Het
Cobll1 T C 2: 65,095,857 (GRCm38) N1119S probably benign Het
Csmd1 G T 8: 15,918,331 (GRCm38) Q3099K possibly damaging Het
Cyp3a25 A G 5: 145,984,981 (GRCm38) V381A possibly damaging Het
Dctn1 C T 6: 83,195,069 (GRCm38) R948* probably null Het
Dhrs3 A G 4: 144,923,940 (GRCm38) T219A probably benign Het
Epha7 C T 4: 28,871,937 (GRCm38) S422L probably benign Het
Esrp1 A G 4: 11,384,449 (GRCm38) V78A probably damaging Het
Evc2 A G 5: 37,386,856 (GRCm38) T650A possibly damaging Het
Exoc6b T A 6: 84,989,409 (GRCm38) K194N possibly damaging Het
Fer1l6 G A 15: 58,662,732 (GRCm38) W1809* probably null Het
Frmd4a T A 2: 4,591,936 (GRCm38) L156* probably null Het
Gk5 A T 9: 96,153,210 (GRCm38) probably null Het
Gm3573 A G 14: 42,189,750 (GRCm38) F8L probably benign Het
Gm9767 G A 10: 26,078,940 (GRCm38) C130Y unknown Het
Grip2 T C 6: 91,788,412 (GRCm38) T30A probably benign Het
Gskip C A 12: 105,698,897 (GRCm38) A65E possibly damaging Het
Gtf2e2 A G 8: 33,776,465 (GRCm38) R259G probably benign Het
Gucy1b2 T A 14: 62,419,177 (GRCm38) I244F probably damaging Het
Gxylt2 G T 6: 100,798,190 (GRCm38) V357L possibly damaging Het
Hivep3 CGG CG 4: 120,097,911 (GRCm38) 1141 probably null Het
Igdcc4 C T 9: 65,133,758 (GRCm38) P1024S possibly damaging Het
Ino80 A T 2: 119,382,269 (GRCm38) probably null Het
Knl1 T C 2: 119,095,133 (GRCm38) F1881S possibly damaging Het
Mbd6 T C 10: 127,285,230 (GRCm38) E518G unknown Het
Mlh1 A G 9: 111,229,890 (GRCm38) S689P probably damaging Het
Mmrn2 T C 14: 34,398,940 (GRCm38) I589T possibly damaging Het
Mtmr12 C T 15: 12,257,708 (GRCm38) Q291* probably null Het
Mup8 T A 4: 60,222,035 (GRCm38) I33F probably benign Het
Mylk C T 16: 34,894,814 (GRCm38) P504L probably benign Het
Ntrk3 C T 7: 78,250,873 (GRCm38) A573T probably benign Het
Obscn G T 11: 58,998,265 (GRCm38) S7560R unknown Het
Or1m1 A G 9: 18,754,882 (GRCm38) F251S possibly damaging Het
Or52z12 A C 7: 103,584,930 (GRCm38) T303P probably damaging Het
Pde1c T C 6: 56,150,628 (GRCm38) T391A probably damaging Het
Pla2g4d T A 2: 120,288,976 (GRCm38) H19L probably benign Het
Plce1 C A 19: 38,524,752 (GRCm38) A165E probably benign Het
Polr1a T C 6: 71,913,021 (GRCm38) S75P probably benign Het
Psg21 T C 7: 18,654,783 (GRCm38) E128G probably benign Het
Radil A G 5: 142,506,613 (GRCm38) I420T probably damaging Het
Radil A T 5: 142,494,795 (GRCm38) M635K probably damaging Het
Rnase11 G A 14: 51,049,572 (GRCm38) T175I probably damaging Het
Robo1 C T 16: 72,563,738 (GRCm38) P13S Het
Slc18a2 C A 19: 59,284,358 (GRCm38) A364D probably benign Het
Snph C T 2: 151,594,586 (GRCm38) D141N probably damaging Het
Snrnp70 T C 7: 45,392,264 (GRCm38) K70R possibly damaging Het
Snx33 T C 9: 56,926,713 (GRCm38) D24G probably benign Het
Spag6 T A 2: 18,731,962 (GRCm38) D165E possibly damaging Het
Spata31 T G 13: 64,921,592 (GRCm38) L518R probably damaging Het
Spata31e3 T C 13: 50,250,260 (GRCm38) E2G possibly damaging Het
Sspo G A 6: 48,489,727 (GRCm38) V4059M probably damaging Het
Stoml1 A G 9: 58,256,658 (GRCm38) R87G probably damaging Het
Suv39h2 T C 2: 3,474,829 (GRCm38) T40A unknown Het
Terb2 G T 2: 122,186,475 (GRCm38) G26W probably damaging Het
Tmem62 T C 2: 120,996,440 (GRCm38) I406T probably benign Het
Tnfrsf11a G A 1: 105,844,732 (GRCm38) V582I probably benign Het
Tpsg1 G T 17: 25,373,210 (GRCm38) G86V probably damaging Het
Unc13c T C 9: 73,669,535 (GRCm38) D1480G probably damaging Het
Urb1 CACTTAC CAC 16: 90,772,573 (GRCm38) probably benign Het
Vmn1r48 C A 6: 90,035,980 (GRCm38) V288L probably benign Het
Vmn2r13 A G 5: 109,173,640 (GRCm38) V397A probably damaging Het
Vmn2r98 A G 17: 19,067,308 (GRCm38) N468D possibly damaging Het
Zfhx2 G T 14: 55,066,231 (GRCm38) T1432K possibly damaging Het
Zswim5 T A 4: 116,986,742 (GRCm38) D992E possibly damaging Het
Other mutations in St6galnac2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01714:St6galnac2 APN 11 116,685,119 (GRCm38) missense probably damaging 1.00
IGL01726:St6galnac2 APN 11 116,685,119 (GRCm38) missense probably damaging 1.00
IGL01727:St6galnac2 APN 11 116,685,119 (GRCm38) missense probably damaging 1.00
IGL01733:St6galnac2 APN 11 116,685,119 (GRCm38) missense probably damaging 1.00
IGL03353:St6galnac2 APN 11 116,690,302 (GRCm38) splice site probably benign
R1521:St6galnac2 UTSW 11 116,684,347 (GRCm38) missense possibly damaging 0.79
R1524:St6galnac2 UTSW 11 116,684,487 (GRCm38) unclassified probably benign
R1855:St6galnac2 UTSW 11 116,690,315 (GRCm38) missense probably benign 0.02
R2307:St6galnac2 UTSW 11 116,681,905 (GRCm38) missense probably damaging 1.00
R4079:St6galnac2 UTSW 11 116,681,898 (GRCm38) missense possibly damaging 0.69
R4658:St6galnac2 UTSW 11 116,684,525 (GRCm38) unclassified probably benign
R5174:St6galnac2 UTSW 11 116,681,947 (GRCm38) missense probably damaging 0.99
R5436:St6galnac2 UTSW 11 116,684,527 (GRCm38) unclassified probably benign
R5655:St6galnac2 UTSW 11 116,685,146 (GRCm38) missense probably damaging 1.00
R6584:St6galnac2 UTSW 11 116,694,504 (GRCm38) missense probably benign 0.06
R6702:St6galnac2 UTSW 11 116,684,387 (GRCm38) missense probably benign 0.38
R6703:St6galnac2 UTSW 11 116,684,387 (GRCm38) missense probably benign 0.38
R7090:St6galnac2 UTSW 11 116,677,635 (GRCm38) missense probably damaging 1.00
R7368:St6galnac2 UTSW 11 116,679,979 (GRCm38) missense probably damaging 1.00
R7728:St6galnac2 UTSW 11 116,679,985 (GRCm38) missense probably benign 0.02
R7751:St6galnac2 UTSW 11 116,677,584 (GRCm38) missense probably damaging 1.00
R7851:St6galnac2 UTSW 11 116,685,938 (GRCm38) missense probably benign 0.04
R7970:St6galnac2 UTSW 11 116,690,343 (GRCm38) missense probably benign
R8191:St6galnac2 UTSW 11 116,681,922 (GRCm38) missense probably damaging 1.00
R8440:St6galnac2 UTSW 11 116,677,548 (GRCm38) missense probably damaging 1.00
R8946:St6galnac2 UTSW 11 116,677,632 (GRCm38) missense probably damaging 1.00
R9453:St6galnac2 UTSW 11 116,678,518 (GRCm38) missense possibly damaging 0.92
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-10-24