Incidental Mutation 'R1855:St6galnac2'
ID 206049
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 ST6GalNAc II, Siat7, Siat7b
MMRRC Submission 039879-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R1855 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 116567529-116586608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 116581141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 60 (R60S)
Ref Sequence ENSEMBL: ENSMUSP00000078501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079545]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000079545
AA Change: R60S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000078501
Gene: ENSMUSG00000057286
AA Change: R60S

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency 97% (72/74)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,818,195 (GRCm39) L285Q probably damaging Het
Acaca T C 11: 84,262,380 (GRCm39) L1994P probably damaging Het
Adamts9 A G 6: 92,878,350 (GRCm39) probably benign Het
Aff3 T C 1: 38,249,385 (GRCm39) E574G probably benign Het
Ankrd1 T C 19: 36,096,635 (GRCm39) K64R probably damaging Het
Arhgap23 T C 11: 97,339,523 (GRCm39) I163T probably damaging Het
Ascc3 A T 10: 50,494,018 (GRCm39) Q151L probably benign Het
Atad2 G A 15: 57,960,685 (GRCm39) P971L possibly damaging Het
C1s1 A C 6: 124,511,315 (GRCm39) probably null Het
Ccdc150 T C 1: 54,407,069 (GRCm39) probably benign Het
Cdhr3 A T 12: 33,110,351 (GRCm39) I311N probably damaging Het
Chad T A 11: 94,456,303 (GRCm39) L127H probably damaging Het
Clasp1 G A 1: 118,436,624 (GRCm39) A303T probably damaging Het
Clptm1 A G 7: 19,372,134 (GRCm39) V234A probably benign Het
Cnih3 C A 1: 181,282,186 (GRCm39) S140* probably null Het
Col24a1 G A 3: 145,164,895 (GRCm39) G1033D probably damaging Het
Csnk1a1 T A 18: 61,708,498 (GRCm39) probably null Het
Cttnbp2 T A 6: 18,378,412 (GRCm39) I1475L probably benign Het
Dnah5 T C 15: 28,411,815 (GRCm39) V3728A possibly damaging Het
Dock9 C A 14: 121,877,571 (GRCm39) V391F probably damaging Het
Ehmt2 A T 17: 35,129,752 (GRCm39) I949F probably damaging Het
Eif4g1 C A 16: 20,505,911 (GRCm39) T1025K possibly damaging Het
Enpp2 C T 15: 54,709,219 (GRCm39) E803K probably damaging Het
Esrrg A T 1: 187,943,295 (GRCm39) M423L probably damaging Het
Etnppl A T 3: 130,414,371 (GRCm39) I89F probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbln7 A G 2: 128,735,755 (GRCm39) T248A possibly damaging Het
Galnt9 C T 5: 110,763,390 (GRCm39) T465M probably damaging Het
Grcc10 A G 6: 124,717,541 (GRCm39) V57A probably benign Het
Herc1 T A 9: 66,298,708 (GRCm39) M614K possibly damaging Het
Itch C T 2: 155,014,374 (GRCm39) probably benign Het
Kdm6b C A 11: 69,298,112 (GRCm39) A167S probably damaging Het
Kidins220 C T 12: 25,106,590 (GRCm39) R1348C probably damaging Het
Kif17 T C 4: 138,015,582 (GRCm39) L577P probably benign Het
Krt25 A T 11: 99,209,141 (GRCm39) L258Q probably damaging Het
Marchf10 T C 11: 105,281,218 (GRCm39) T356A probably benign Het
Mical2 G A 7: 111,944,489 (GRCm39) A940T probably benign Het
Mrpl4 A G 9: 20,914,667 (GRCm39) E81G possibly damaging Het
Mtcl1 A G 17: 66,686,509 (GRCm39) V447A probably benign Het
Mtor C A 4: 148,637,546 (GRCm39) N2502K probably benign Het
Notch4 G A 17: 34,799,936 (GRCm39) D966N probably benign Het
Oip5 C A 2: 119,442,271 (GRCm39) K214N probably benign Het
Or8a1b A T 9: 37,623,266 (GRCm39) F103Y possibly damaging Het
Pabir2 T A X: 52,342,933 (GRCm39) Q201H probably benign Het
Pak5 A T 2: 135,929,429 (GRCm39) S585T probably benign Het
Pard3 T A 8: 128,174,293 (GRCm39) probably null Het
Pcnx2 A T 8: 126,534,735 (GRCm39) probably benign Het
Pcsk5 T C 19: 17,492,556 (GRCm39) Y939C possibly damaging Het
Pde1a A G 2: 79,728,408 (GRCm39) probably null Het
Pde9a C T 17: 31,674,094 (GRCm39) P60S probably damaging Het
Pikfyve C A 1: 65,297,957 (GRCm39) T1562K probably benign Het
Plekhg6 A T 6: 125,352,802 (GRCm39) M115K probably damaging Het
Pogz C T 3: 94,786,160 (GRCm39) T863I probably benign Het
Ppp1r3a A T 6: 14,754,993 (GRCm39) W85R probably damaging Het
Rnf123 C A 9: 107,938,990 (GRCm39) R826L probably damaging Het
Slc1a6 T A 10: 78,648,758 (GRCm39) V493E probably damaging Het
Slc22a2 A G 17: 12,805,699 (GRCm39) D150G probably damaging Het
Snap47 C T 11: 59,319,159 (GRCm39) probably benign Het
Spata22 A G 11: 73,231,385 (GRCm39) D213G probably benign Het
Stk32c A G 7: 138,701,363 (GRCm39) F263S probably damaging Het
Supt6 T C 11: 78,123,366 (GRCm39) I104V possibly damaging Het
Tex2 T C 11: 106,437,702 (GRCm39) E158G possibly damaging Het
Tiam2 C T 17: 3,465,410 (GRCm39) R380C probably damaging Het
Trim25 C T 11: 88,906,407 (GRCm39) T410I probably benign Het
Usp18 T A 6: 121,239,076 (GRCm39) C212S probably benign Het
Vmn1r2 A G 4: 3,172,588 (GRCm39) Y169C probably damaging Het
Wdr33 A T 18: 32,039,909 (GRCm39) probably benign Het
Xpr1 A G 1: 155,159,002 (GRCm39) Y597H probably benign Het
Yy1 CGGG CGGGGGGGGG 12: 108,759,916 (GRCm39) probably benign Het
Zfp54 T A 17: 21,654,404 (GRCm39) Y299* probably null Het
Zfp566 T G 7: 29,777,927 (GRCm39) S85R probably benign Het
Other mutations in St6galnac2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01714:St6galnac2 APN 11 116,575,945 (GRCm39) missense probably damaging 1.00
IGL01726:St6galnac2 APN 11 116,575,945 (GRCm39) missense probably damaging 1.00
IGL01727:St6galnac2 APN 11 116,575,945 (GRCm39) missense probably damaging 1.00
IGL01733:St6galnac2 APN 11 116,575,945 (GRCm39) missense probably damaging 1.00
IGL03353:St6galnac2 APN 11 116,581,128 (GRCm39) splice site probably benign
R1521:St6galnac2 UTSW 11 116,575,173 (GRCm39) missense possibly damaging 0.79
R1524:St6galnac2 UTSW 11 116,575,313 (GRCm39) unclassified probably benign
R2307:St6galnac2 UTSW 11 116,572,731 (GRCm39) missense probably damaging 1.00
R4079:St6galnac2 UTSW 11 116,572,724 (GRCm39) missense possibly damaging 0.69
R4658:St6galnac2 UTSW 11 116,575,351 (GRCm39) unclassified probably benign
R5174:St6galnac2 UTSW 11 116,572,773 (GRCm39) missense probably damaging 0.99
R5436:St6galnac2 UTSW 11 116,575,353 (GRCm39) unclassified probably benign
R5655:St6galnac2 UTSW 11 116,575,972 (GRCm39) missense probably damaging 1.00
R6584:St6galnac2 UTSW 11 116,585,330 (GRCm39) missense probably benign 0.06
R6702:St6galnac2 UTSW 11 116,575,213 (GRCm39) missense probably benign 0.38
R6703:St6galnac2 UTSW 11 116,575,213 (GRCm39) missense probably benign 0.38
R7090:St6galnac2 UTSW 11 116,568,461 (GRCm39) missense probably damaging 1.00
R7368:St6galnac2 UTSW 11 116,570,805 (GRCm39) missense probably damaging 1.00
R7607:St6galnac2 UTSW 11 116,570,805 (GRCm39) missense probably damaging 1.00
R7728:St6galnac2 UTSW 11 116,570,811 (GRCm39) missense probably benign 0.02
R7751:St6galnac2 UTSW 11 116,568,410 (GRCm39) missense probably damaging 1.00
R7851:St6galnac2 UTSW 11 116,576,764 (GRCm39) missense probably benign 0.04
R7970:St6galnac2 UTSW 11 116,581,169 (GRCm39) missense probably benign
R8191:St6galnac2 UTSW 11 116,572,748 (GRCm39) missense probably damaging 1.00
R8440:St6galnac2 UTSW 11 116,568,374 (GRCm39) missense probably damaging 1.00
R8946:St6galnac2 UTSW 11 116,568,458 (GRCm39) missense probably damaging 1.00
R9453:St6galnac2 UTSW 11 116,569,344 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- CCCAGGGGTACTAATCTCTCTG -3'
(R):5'- AACATCGTGGGGACATTAGC -3'

Sequencing Primer
(F):5'- TCTGCTGAGTTACAGGAAACAC -3'
(R):5'- GGGACATTAGCATTATGTCAGCCTC -3'
Posted On 2014-06-23