Incidental Mutation 'R6037:St6galnac6'
ID479244
Institutional Source Beutler Lab
Gene Symbol St6galnac6
Ensembl Gene ENSMUSG00000026811
Gene NameST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6
SynonymsST6GalNAcVI, Siat7f
MMRRC Submission 043258-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.102) question?
Stock #R6037 (G1)
Quality Score225.009
Status Not validated
Chromosome2
Chromosomal Location32599709-32620806 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 32612228 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 7 (Q7R)
Ref Sequence ENSEMBL: ENSMUSP00000118893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072111] [ENSMUST00000081879] [ENSMUST00000095044] [ENSMUST00000095045] [ENSMUST00000113290] [ENSMUST00000126636] [ENSMUST00000128811] [ENSMUST00000129165] [ENSMUST00000131229] [ENSMUST00000140983] [ENSMUST00000143625] [ENSMUST00000183538]
Predicted Effect probably benign
Transcript: ENSMUST00000072111
AA Change: Q41R

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000071983
Gene: ENSMUSG00000026811
AA Change: Q41R

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:Glyco_transf_29 55 328 2.5e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000081879
AA Change: Q43R

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000080555
Gene: ENSMUSG00000026811
AA Change: Q43R

DomainStartEndE-ValueType
low complexity region 17 29 N/A INTRINSIC
Pfam:Glyco_transf_29 62 329 2.1e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095044
AA Change: Q41R

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000092654
Gene: ENSMUSG00000026811
AA Change: Q41R

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:Glyco_transf_29 55 328 2.5e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095045
AA Change: Q7R

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000092655
Gene: ENSMUSG00000026811
AA Change: Q7R

DomainStartEndE-ValueType
Pfam:Glyco_transf_29 41 307 1.8e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113290
AA Change: Q7R

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000108915
Gene: ENSMUSG00000026811
AA Change: Q7R

DomainStartEndE-ValueType
Pfam:Glyco_transf_29 21 294 1.7e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126636
Predicted Effect probably damaging
Transcript: ENSMUST00000128811
AA Change: Q7R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118893
Gene: ENSMUSG00000026811
AA Change: Q7R

DomainStartEndE-ValueType
Pfam:Glyco_transf_29 20 108 7e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000129165
AA Change: Q7R

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000131229
AA Change: Q21R

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000115430
Gene: ENSMUSG00000026811
AA Change: Q21R

DomainStartEndE-ValueType
Pfam:Glyco_transf_29 35 176 3.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140983
AA Change: Q7R

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000114934
Gene: ENSMUSG00000026811
AA Change: Q7R

DomainStartEndE-ValueType
Pfam:Glyco_transf_29 21 229 7.3e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149220
Predicted Effect probably benign
Transcript: ENSMUST00000183538
AA Change: Q41R

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000138916
Gene: ENSMUSG00000026811
AA Change: Q41R

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:Glyco_transf_29 55 232 4.8e-24 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.0%
  • 10x: 92.4%
  • 20x: 72.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ST6GALNAC6 belongs to a family of sialyltransferases that modify proteins and ceramides on the cell surface to alter cell-cell or cell-extracellular matrix interactions (Tsuchida et al., 2003 [PubMed 12668675]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,426,349 V173M probably damaging Het
Abi2 C A 1: 60,464,579 P212T probably damaging Het
Ano4 A G 10: 89,317,246 F68S possibly damaging Het
Art5 C A 7: 102,098,384 A63S probably benign Het
Asgr1 T A 11: 70,056,421 S96R probably benign Het
Bdp1 A T 13: 100,027,449 V2248D possibly damaging Het
Cacna1s C T 1: 136,070,967 A200V possibly damaging Het
Cacna2d2 A G 9: 107,513,539 K357E probably damaging Het
Cfap52 C T 11: 67,946,300 G212R probably benign Het
Dcun1d3 A G 7: 119,857,742 F249S probably damaging Het
Ece2 A G 16: 20,630,362 Y17C probably damaging Het
Efemp1 C T 11: 28,921,760 T425I probably damaging Het
Eprs A G 1: 185,396,109 E562G probably damaging Het
Fbn2 T C 18: 58,044,223 T2001A probably benign Het
Flt4 G A 11: 49,637,040 R940H probably damaging Het
Fry T A 5: 150,428,179 M1716K probably benign Het
Gm10684 T A 9: 45,107,741 probably benign Het
Gm281 T C 14: 13,864,282 N348S probably damaging Het
Hivep1 G A 13: 42,157,940 V1219I probably damaging Het
Hyls1 G A 9: 35,561,184 S312F probably benign Het
Il23r C T 6: 67,478,954 V177M probably damaging Het
Klf12 T C 14: 99,900,214 S299G probably benign Het
Lama5 G A 2: 180,207,013 R265C probably damaging Het
Lifr A G 15: 7,186,943 T800A probably damaging Het
Megf8 T C 7: 25,364,406 L2729P probably damaging Het
Mki67 A C 7: 135,696,803 S2167R possibly damaging Het
Mus81 T C 19: 5,484,004 K400E probably damaging Het
Nomo1 T A 7: 46,062,999 I656N possibly damaging Het
Oas3 T C 5: 120,769,319 T418A probably benign Het
Olfr1034 T C 2: 86,046,584 M34T probably benign Het
Olfr1066 T A 2: 86,455,789 I161L probably benign Het
Olfr147 T A 9: 38,403,305 C144S probably benign Het
Olfr301 C T 7: 86,413,270 L303F probably benign Het
Olfr936 A G 9: 39,047,107 V104A probably damaging Het
Olr1 A G 6: 129,493,541 L221P probably damaging Het
Pih1d1 C T 7: 45,156,314 A69V probably damaging Het
Pkdrej A C 15: 85,819,766 S656R probably damaging Het
Polr3f A G 2: 144,536,023 D171G probably damaging Het
Rasal1 T C 5: 120,649,501 V11A possibly damaging Het
Rsf1 G GACGGCGGCT 7: 97,579,909 probably benign Het
Sptbn4 T A 7: 27,364,170 Y2277F probably damaging Het
Thrsp T G 7: 97,417,292 D71A possibly damaging Het
Vmn2r1 C A 3: 64,081,729 Q30K probably benign Het
Vmn2r125 C A 4: 156,351,101 A258D probably benign Het
Wipf2 C T 11: 98,896,179 P345S probably benign Het
Zeb2 G T 2: 44,988,640 S1170* probably null Het
Zfp947 A G 17: 22,147,434 Y38H probably damaging Het
Other mutations in St6galnac6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02736:St6galnac6 APN 2 32614971 missense probably benign 0.04
R0097:St6galnac6 UTSW 2 32599802 missense probably damaging 0.99
R1547:St6galnac6 UTSW 2 32614965 missense possibly damaging 0.75
R1654:St6galnac6 UTSW 2 32619509 missense probably damaging 1.00
R4385:St6galnac6 UTSW 2 32615024 missense possibly damaging 0.84
R4744:St6galnac6 UTSW 2 32618543 missense probably damaging 1.00
R4968:St6galnac6 UTSW 2 32608086 missense probably benign 0.00
R5169:St6galnac6 UTSW 2 32614845 missense possibly damaging 0.91
R6037:St6galnac6 UTSW 2 32612228 missense probably damaging 1.00
R7883:St6galnac6 UTSW 2 32614929 missense probably benign 0.02
R7966:St6galnac6 UTSW 2 32614929 missense probably benign 0.02
Predicted Primers
Posted On2017-06-26