Incidental Mutation 'R6584:St6galnac2'
ID 524294
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 044708-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R6584 (G1)
Quality Score 88.0076
Status Not validated
Chromosome 11
Chromosomal Location 116567529-116586608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116585330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 19 (S19P)
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: S19P

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000078501
Gene: ENSMUSG00000057286
AA Change: S19P

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Glyco_transf_29 90 373 2.9e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145441
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agr2 G A 12: 36,045,625 (GRCm39) R37Q probably benign Het
Amfr T C 8: 94,700,783 (GRCm39) D559G probably benign Het
Atg2b T C 12: 105,624,254 (GRCm39) Y711C probably damaging Het
Brd10 T C 19: 29,696,128 (GRCm39) N1122D possibly damaging Het
Clgn T C 8: 84,126,665 (GRCm39) I122T probably benign Het
Ets1 T A 9: 32,645,293 (GRCm39) F180Y probably damaging Het
Fbxw14 C G 9: 109,115,611 (GRCm39) C53S possibly damaging Het
Ifna9 A G 4: 88,510,375 (GRCm39) L83P probably damaging Het
Igf2r A G 17: 12,920,137 (GRCm39) C1401R probably damaging Het
Il22 A T 10: 118,040,932 (GRCm39) M13L probably benign Het
Il9r A G 11: 32,141,782 (GRCm39) Y319H probably benign Het
Itgb5 T C 16: 33,705,400 (GRCm39) F230S probably damaging Het
Klk1b27 T A 7: 43,703,935 (GRCm39) I26N possibly damaging Het
Lrba C T 3: 86,571,883 (GRCm39) R300C probably damaging Het
Map3k4 A C 17: 12,479,378 (GRCm39) Y730D probably damaging Het
Ogfrl1 T G 1: 23,408,944 (GRCm39) K427N probably benign Het
Or1o1 G A 17: 37,716,796 (GRCm39) R119H probably benign Het
Paxip1 G A 5: 27,963,450 (GRCm39) H792Y probably damaging Het
Phf20 T C 2: 156,136,043 (GRCm39) S621P probably damaging Het
Pramel22 T A 4: 143,382,040 (GRCm39) T219S possibly damaging Het
Slitrk3 C A 3: 72,956,558 (GRCm39) G738V probably damaging Het
Smurf1 T C 5: 144,819,333 (GRCm39) D598G probably damaging Het
Stra6l G A 4: 45,869,635 (GRCm39) probably null Het
Tbc1d9 C A 8: 83,987,629 (GRCm39) Q863K probably damaging Het
Traf1 T A 2: 34,848,070 (GRCm39) D8V probably damaging Het
Vmn2r24 T G 6: 123,792,764 (GRCm39) M697R possibly damaging Het
Wdr27 T A 17: 15,122,031 (GRCm39) Y625F probably damaging Het
Wdr49 T C 3: 75,245,065 (GRCm39) M339V 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
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
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'- TTAGGCCTGGACGGAATTCAC -3'
(R):5'- TGGAGTTGCTGCGACCTAAG -3'

Sequencing Primer
(F):5'- TGCTCCGGACCGAGCAAAG -3'
(R):5'- TTGCTGCGACCTAAGGCCTG -3'
Posted On 2018-06-22