Incidental Mutation 'R8191:St6galnac2'
ID 635172
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 067614-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R8191 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 116567529-116586608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116572748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 236 (Y236C)
Ref Sequence ENSEMBL: ENSMUSP00000078501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079545] [ENSMUST00000144398]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000079545
AA Change: Y236C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078501
Gene: ENSMUSG00000057286
AA Change: Y236C

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Glyco_transf_29 90 373 2.9e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144398
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik G A 16: 3,724,918 (GRCm39) R49W probably damaging Het
Adamts4 T C 1: 171,080,292 (GRCm39) S282P Het
Aqp4 A G 18: 15,531,222 (GRCm39) S180P probably benign Het
Armc2 T G 10: 41,839,747 (GRCm39) E406A probably benign Het
Atp13a3 A T 16: 30,168,598 (GRCm39) Y464N probably damaging Het
B3gnt3 C A 8: 72,146,122 (GRCm39) V136L probably benign Het
Cacna1s C T 1: 136,035,893 (GRCm39) H1378Y probably damaging Het
Ccnk A T 12: 108,159,933 (GRCm39) E138D probably benign Het
Cenpe A G 3: 134,957,375 (GRCm39) K1878E probably benign Het
Cep57l1 T A 10: 41,616,955 (GRCm39) I111L probably damaging Het
Cfap298 G T 16: 90,727,889 (GRCm39) N100K probably damaging Het
Copg2 T C 6: 30,790,665 (GRCm39) I509V probably benign Het
Cux2 T A 5: 122,012,217 (GRCm39) D406V probably benign Het
Cyp2a12 G T 7: 26,730,529 (GRCm39) A165S probably benign Het
Dnaaf5 T G 5: 139,167,250 (GRCm39) S719A probably benign Het
Dnah7c A G 1: 46,646,618 (GRCm39) I1220V possibly damaging Het
Dnai3 G T 3: 145,800,066 (GRCm39) P158H probably damaging Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
Dusp10 T A 1: 183,769,749 (GRCm39) D238E possibly damaging Het
Dync1li1 C A 9: 114,538,253 (GRCm39) D203E probably benign Het
Ecpas A T 4: 58,872,587 (GRCm39) probably null Het
Eif5b T C 1: 38,075,283 (GRCm39) S587P probably damaging Het
Ephb2 G A 4: 136,386,256 (GRCm39) T832I probably damaging Het
Exoc1 T A 5: 76,707,674 (GRCm39) probably null Het
Fam193a T A 5: 34,597,917 (GRCm39) N571K probably damaging Het
Fem1a T A 17: 56,565,356 (GRCm39) I483N probably damaging Het
Fgf20 C A 8: 40,761,361 (GRCm39) probably benign Het
Fkbp1a C T 2: 151,399,356 (GRCm39) P98S Het
Gpsm3 A T 17: 34,809,451 (GRCm39) D19V probably benign Het
Ido2 C A 8: 25,023,696 (GRCm39) G381W probably damaging Het
Ifi204 T C 1: 173,579,226 (GRCm39) T540A possibly damaging Het
Isl1 A T 13: 116,441,954 (GRCm39) M93K probably benign Het
Map3k10 T A 7: 27,362,671 (GRCm39) S472C probably damaging Het
Mcrs1 A T 15: 99,141,206 (GRCm39) V432E probably damaging Het
Metap2 A G 10: 93,701,267 (GRCm39) probably null Het
Muc5b A G 7: 141,421,421 (GRCm39) S4304G probably benign Het
Myef2l G T 3: 10,153,914 (GRCm39) V228F probably damaging Het
Nell1 T C 7: 50,098,622 (GRCm39) V308A unknown Het
Or10g1b A G 14: 52,627,987 (GRCm39) V81A probably benign Het
Or4d5 A T 9: 40,012,767 (GRCm39) H6Q probably benign Het
Plxna4 C A 6: 32,493,885 (GRCm39) V244F possibly damaging Het
Pnpla6 T C 8: 3,592,382 (GRCm39) S1224P probably benign Het
Ripk4 A G 16: 97,564,726 (GRCm39) probably benign Het
Rnpep T C 1: 135,200,172 (GRCm39) E261G possibly damaging Het
Robo1 C A 16: 72,730,142 (GRCm39) S194R probably damaging Het
Rpusd1 C G 17: 25,947,611 (GRCm39) Y99* probably null Het
Scarf1 T C 11: 75,413,065 (GRCm39) M437T probably benign Het
Sh3tc2 G T 18: 62,106,429 (GRCm39) D153Y probably damaging Het
Siglec1 T C 2: 130,927,599 (GRCm39) Y69C probably damaging Het
Slc25a34 T C 4: 141,347,895 (GRCm39) Y262C probably damaging Het
Srrm2 T A 17: 24,039,219 (GRCm39) N1954K probably damaging Het
Stac3 T A 10: 127,344,068 (GRCm39) I322N probably damaging Het
Tcaf1 T C 6: 42,652,190 (GRCm39) Q764R probably damaging Het
Tcf20 G A 15: 82,737,606 (GRCm39) R1282* probably null Het
Tlr2 T A 3: 83,743,821 (GRCm39) K754M probably damaging Het
Tlr2 T G 3: 83,743,822 (GRCm39) K754Q probably damaging Het
Tnn C T 1: 159,953,088 (GRCm39) V651M probably damaging Het
Ttn T C 2: 76,701,083 (GRCm39) H9622R unknown Het
Tubgcp6 C T 15: 89,004,843 (GRCm39) G259S probably damaging Het
Ubr5 C A 15: 38,006,751 (GRCm39) C1174F Het
Ugt2b35 T A 5: 87,149,302 (GRCm39) S184R probably damaging Het
Vit C T 17: 78,853,828 (GRCm39) H25Y probably benign Het
Vmn1r177 G A 7: 23,565,736 (GRCm39) Q47* probably null Het
Vmn2r104 A T 17: 20,250,465 (GRCm39) V602D possibly damaging Het
Vmn2r115 A G 17: 23,578,530 (GRCm39) T668A probably damaging Het
Vmn2r125 T G 4: 156,703,709 (GRCm39) C362W probably damaging Het
Vwa7 A G 17: 35,238,712 (GRCm39) T267A probably damaging Het
Xpa C A 4: 46,183,225 (GRCm39) R188L possibly damaging Het
Zfp143 C T 7: 109,676,364 (GRCm39) T249I probably damaging Het
Zfp607a A G 7: 27,578,868 (GRCm39) E646G possibly damaging Het
Zfp729a A T 13: 67,769,838 (GRCm39) S130R probably benign Het
Zswim3 C A 2: 164,662,128 (GRCm39) Q203K probably damaging 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
R1855:St6galnac2 UTSW 11 116,581,141 (GRCm39) missense probably benign 0.02
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
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'- TAACTTCTCGTGCCGTAGCC -3'
(R):5'- GGAATGGGGATCATGTGTCACC -3'

Sequencing Primer
(F):5'- CATGGGTCCTCAGAACA -3'
(R):5'- AATGGGGATCATGTGTCACCTCTTAC -3'
Posted On 2020-07-13