Incidental Mutation 'R0441:St3gal6'
ID 39191
Institutional Source Beutler Lab
Gene Symbol St3gal6
Ensembl Gene ENSMUSG00000022747
Gene Name ST3 beta-galactoside alpha-2,3-sialyltransferase 6
Synonyms ST3Gal VI, 1700023B24Rik, Siat10
MMRRC Submission 038642-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # R0441 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 58290105-58344614 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 58293818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 237 (A237E)
Ref Sequence ENSEMBL: ENSMUSP00000115756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046663] [ENSMUST00000114357] [ENSMUST00000114358] [ENSMUST00000137035]
AlphaFold Q8VIB3
Predicted Effect probably benign
Transcript: ENSMUST00000046663
SMART Domains Protein: ENSMUSP00000039915
Gene: ENSMUSG00000035107

DomainStartEndE-ValueType
low complexity region 2 34 N/A INTRINSIC
CUB 69 184 4.26e-37 SMART
LCCL 188 273 4.74e-37 SMART
FA58C 288 446 4.08e-28 SMART
transmembrane domain 522 544 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114357
AA Change: A237E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109997
Gene: ENSMUSG00000022747
AA Change: A237E

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:Glyco_transf_29 63 329 6.2e-70 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114358
AA Change: A237E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109998
Gene: ENSMUSG00000022747
AA Change: A237E

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:Glyco_transf_29 71 329 7.1e-58 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000137035
AA Change: A237E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115756
Gene: ENSMUSG00000022747
AA Change: A237E

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:Glyco_transf_29 63 329 6.2e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149197
Meta Mutation Damage Score 0.7442 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 100% (71/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the sialyltransferase family. Members of this family are enzymes that transfer sialic acid from the activated cytidine 5'-monophospho-N-acetylneuraminic acid to terminal positions on sialylated glycolipids (gangliosides) or to the N- or O-linked sugar chains of glycoproteins. This protein has high specificity for neolactotetraosylceramide and neolactohexaosylceramide as glycolipid substrates and may contribute to the formation of selectin ligands and sialyl Lewis X, a carbohydrate important for cell-to-cell recognition and a blood group antigen. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit modest impairment in leukocyte rolling and neutrophil recruitment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,092,689 (GRCm39) probably benign Het
Adgrv1 G A 13: 81,545,345 (GRCm39) R5647* probably null Het
Agbl2 C T 2: 90,627,827 (GRCm39) R211* probably null Het
Akap9 A G 5: 4,011,714 (GRCm39) K806E probably benign Het
Ampd1 C G 3: 102,995,794 (GRCm39) L235V probably benign Het
Atcay T C 10: 81,060,294 (GRCm39) D14G possibly damaging Het
Atp8b4 C T 2: 126,220,626 (GRCm39) probably benign Het
Bmp8b T C 4: 123,018,308 (GRCm39) V393A probably damaging Het
Brca2 T A 5: 150,465,322 (GRCm39) D1695E probably damaging Het
Cdh15 A G 8: 123,587,705 (GRCm39) I210V probably damaging Het
Cep250 T C 2: 155,813,924 (GRCm39) L564P possibly damaging Het
Cmpk1 T C 4: 114,822,220 (GRCm39) T110A probably benign Het
Cpsf3 T G 12: 21,350,085 (GRCm39) I268S probably damaging Het
Csmd2 C T 4: 128,414,023 (GRCm39) A2621V probably benign Het
Cyp2c40 T C 19: 39,795,607 (GRCm39) probably benign Het
D430041D05Rik T A 2: 103,998,292 (GRCm39) Y1837F probably damaging Het
Degs2 A G 12: 108,668,469 (GRCm39) F10S probably damaging Het
Dytn T A 1: 63,717,933 (GRCm39) probably benign Het
Elfn2 G C 15: 78,557,795 (GRCm39) P251A probably benign Het
Epg5 T C 18: 78,066,486 (GRCm39) probably benign Het
Evc2 A G 5: 37,574,811 (GRCm39) D1022G probably damaging Het
Fat3 A G 9: 15,856,304 (GRCm39) probably benign Het
Fbn1 A T 2: 125,151,675 (GRCm39) probably null Het
Gm15217 T C 14: 46,620,676 (GRCm39) probably null Het
Gm17611 A T 13: 50,130,435 (GRCm39) noncoding transcript Het
Gpld1 G A 13: 25,146,303 (GRCm39) W182* probably null Het
Gsc T C 12: 104,439,353 (GRCm39) I8V probably damaging Het
Hck A G 2: 152,976,052 (GRCm39) K197R probably benign Het
Kat6b T C 14: 21,720,301 (GRCm39) L1551P probably damaging Het
Lrch1 C T 14: 75,184,985 (GRCm39) G39D possibly damaging Het
Macf1 T C 4: 123,259,148 (GRCm39) probably null Het
Mroh9 A T 1: 162,888,331 (GRCm39) V248E probably damaging Het
Mrps15 C A 4: 125,945,210 (GRCm39) probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Ndufa5 T C 6: 24,522,750 (GRCm39) T31A probably benign Het
Nfyb A G 10: 82,586,594 (GRCm39) V190A possibly damaging Het
Nos2 A G 11: 78,819,409 (GRCm39) I40M probably benign Het
Or2f2 T C 6: 42,767,108 (GRCm39) I45T probably damaging Het
Or5ar1 A T 2: 85,671,859 (GRCm39) I92N probably damaging Het
Or8k37 A T 2: 86,469,674 (GRCm39) I126K probably damaging Het
Otog T C 7: 45,955,301 (GRCm39) S564P probably damaging Het
Pak5 C T 2: 135,958,549 (GRCm39) A180T probably benign Het
Pappa2 T C 1: 158,590,628 (GRCm39) probably benign Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Plxnc1 T A 10: 94,632,344 (GRCm39) N1431I probably damaging Het
Prph A T 15: 98,955,319 (GRCm39) I429L probably damaging Het
Prrc2a A G 17: 35,368,664 (GRCm39) probably benign Het
Pwwp3a A T 10: 80,064,859 (GRCm39) N30Y probably damaging Het
Rad54b A T 4: 11,563,394 (GRCm39) T18S probably benign Het
Ranbp2 A G 10: 58,321,590 (GRCm39) E2629G probably benign Het
Rec114 G A 9: 58,565,053 (GRCm39) T201I probably benign Het
Rspo1 G A 4: 124,885,190 (GRCm39) R22Q probably benign Het
Sec23b A G 2: 144,423,917 (GRCm39) E522G probably damaging Het
Sgsm3 G A 15: 80,893,971 (GRCm39) R502H possibly damaging Het
Sh3pxd2b C A 11: 32,373,023 (GRCm39) A730D possibly damaging Het
Spag4 A G 2: 155,909,899 (GRCm39) D187G probably damaging Het
Srgap2 G A 1: 131,264,175 (GRCm39) T465I probably damaging Het
Tecpr1 C A 5: 144,132,759 (GRCm39) R1159L probably benign Het
Tmem63b A T 17: 45,977,241 (GRCm39) probably null Het
Tmtc1 T A 6: 148,317,256 (GRCm39) D78V probably damaging Het
Tpp2 A G 1: 44,029,722 (GRCm39) N68D possibly damaging Het
Ttn C A 2: 76,770,269 (GRCm39) A2641S probably benign Het
Uimc1 T C 13: 55,241,032 (GRCm39) K19E probably damaging Het
Utrn T A 10: 12,564,038 (GRCm39) E1274V probably null Het
Vmn2r102 A T 17: 19,914,630 (GRCm39) I732F probably damaging Het
Wrn A T 8: 33,758,778 (GRCm39) M792K probably benign Het
Zfp451 A G 1: 33,816,126 (GRCm39) I608T probably damaging Het
Other mutations in St3gal6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01518:St3gal6 APN 16 58,305,138 (GRCm39) missense probably benign 0.31
IGL01583:St3gal6 APN 16 58,314,033 (GRCm39) unclassified probably benign
IGL02512:St3gal6 APN 16 58,293,822 (GRCm39) missense probably benign 0.00
R0212:St3gal6 UTSW 16 58,293,818 (GRCm39) missense probably damaging 1.00
R0212:St3gal6 UTSW 16 58,293,816 (GRCm39) missense probably damaging 0.96
R0441:St3gal6 UTSW 16 58,293,816 (GRCm39) missense probably damaging 0.96
R0442:St3gal6 UTSW 16 58,293,818 (GRCm39) missense probably damaging 1.00
R0442:St3gal6 UTSW 16 58,293,816 (GRCm39) missense probably damaging 0.96
R1786:St3gal6 UTSW 16 58,296,234 (GRCm39) missense probably damaging 1.00
R1939:St3gal6 UTSW 16 58,293,924 (GRCm39) splice site probably null
R2233:St3gal6 UTSW 16 58,293,897 (GRCm39) missense probably damaging 1.00
R2274:St3gal6 UTSW 16 58,309,332 (GRCm39) missense possibly damaging 0.46
R2336:St3gal6 UTSW 16 58,314,067 (GRCm39) missense probably damaging 1.00
R2434:St3gal6 UTSW 16 58,291,015 (GRCm39) missense probably damaging 1.00
R3789:St3gal6 UTSW 16 58,305,136 (GRCm39) missense probably benign 0.07
R6318:St3gal6 UTSW 16 58,306,769 (GRCm39) missense probably benign 0.01
R7320:St3gal6 UTSW 16 58,314,074 (GRCm39) missense probably benign 0.00
R7599:St3gal6 UTSW 16 58,293,800 (GRCm39) missense probably benign 0.00
R8907:St3gal6 UTSW 16 58,314,095 (GRCm39) missense probably benign 0.00
R9100:St3gal6 UTSW 16 58,306,793 (GRCm39) missense
R9593:St3gal6 UTSW 16 58,305,136 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTGGCAACCTGTAAGACATGAGAGC -3'
(R):5'- TTCAGACTCCAGTCACTATGACCCC -3'

Sequencing Primer
(F):5'- GAGCATATCCATTTGGTGTCCAAC -3'
(R):5'- AATACTACAGCGGTTCTCGTCG -3'
Posted On 2013-05-23