Incidental Mutation 'R0442:St3gal6'
ID 39242
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 038643-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.210) question?
Stock # R0442 (G1)
Quality Score 164
Status Validated
Chromosome 16
Chromosomal Location 58290105-58344614 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 58293816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 238 (A238S)
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: A238S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109997
Gene: ENSMUSG00000022747
AA Change: A238S

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: A238S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109998
Gene: ENSMUSG00000022747
AA Change: A238S

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: A238S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000115756
Gene: ENSMUSG00000022747
AA Change: A238S

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 0.2020 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.5%
  • 10x: 93.4%
  • 20x: 81.2%
Validation Efficiency 99% (70/71)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T A 1: 25,435,551 (GRCm39) N816Y probably damaging Het
Arfgef3 T C 10: 18,553,563 (GRCm39) probably benign Het
Cd200 T A 16: 45,217,518 (GRCm39) S58C probably damaging Het
Cep128 C T 12: 91,233,545 (GRCm39) E508K probably damaging Het
Dnah2 C A 11: 69,339,368 (GRCm39) L3046F probably damaging Het
Duox2 T C 2: 122,119,813 (GRCm39) N872D probably benign Het
Fam90a1a C T 8: 22,453,074 (GRCm39) T143I probably benign Het
Fdft1 T C 14: 63,400,798 (GRCm39) T112A probably benign Het
Gimap9 G T 6: 48,655,000 (GRCm39) G196* probably null Het
Grhl1 G A 12: 24,662,169 (GRCm39) R536Q probably damaging Het
Gtpbp3 T A 8: 71,944,135 (GRCm39) V293E probably damaging Het
Hcn3 A T 3: 89,058,847 (GRCm39) F251Y probably damaging Het
Hectd4 T A 5: 121,462,045 (GRCm39) C971S possibly damaging Het
Helz2 T A 2: 180,874,002 (GRCm39) D2164V probably damaging Het
Hif1an T G 19: 44,554,451 (GRCm39) L188R probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Iqgap3 C T 3: 88,023,266 (GRCm39) P519L probably damaging Het
Jakmip1 T G 5: 37,292,897 (GRCm39) probably null Het
Klra1 T C 6: 130,349,835 (GRCm39) Y201C probably damaging Het
Minpp1 T C 19: 32,471,348 (GRCm39) F299L possibly damaging Het
Myb A G 10: 21,002,095 (GRCm39) S749P probably benign Het
Myo3b T C 2: 70,069,305 (GRCm39) probably null Het
Naip1 T A 13: 100,581,024 (GRCm39) R74S probably benign Het
Nt5m A G 11: 59,765,445 (GRCm39) T158A possibly damaging Het
Obscn A T 11: 58,893,000 (GRCm39) probably benign Het
Or5af1 T A 11: 58,722,257 (GRCm39) Y92* probably null Het
Or5b119 T G 19: 13,457,412 (GRCm39) D50A probably damaging Het
Or6c210 T C 10: 129,495,693 (GRCm39) I6T probably benign Het
Otogl T A 10: 107,712,716 (GRCm39) T543S probably damaging Het
Pds5b T C 5: 150,640,009 (GRCm39) probably benign Het
Plekhm1 A G 11: 103,288,000 (GRCm39) M49T possibly damaging Het
Rabl6 A T 2: 25,477,534 (GRCm39) S305R probably damaging Het
Rad54b G A 4: 11,609,480 (GRCm39) probably benign Het
Rad54b C A 4: 11,610,362 (GRCm39) R660S probably benign Het
Rexo5 T C 7: 119,442,508 (GRCm39) L542P probably damaging Het
Rp1 C T 1: 4,416,970 (GRCm39) D1381N probably benign Het
Scnn1a T G 6: 125,316,100 (GRCm39) M346R probably damaging Het
Sirpb1c A G 3: 15,856,710 (GRCm39) I380T probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Sstr3 A T 15: 78,424,597 (GRCm39) L50Q probably damaging Het
Sun5 T C 2: 153,712,872 (GRCm39) D16G possibly damaging Het
Svil A T 18: 5,046,870 (GRCm39) T39S probably damaging Het
Taar1 A G 10: 23,796,380 (GRCm39) Y26C possibly damaging Het
Ugt1a1 AT A 1: 88,140,093 (GRCm39) probably null Het
Use1 T C 8: 71,819,702 (GRCm39) probably benign Het
Usp54 T C 14: 20,657,277 (GRCm39) Y7C probably damaging Het
Zbtb37 A G 1: 160,859,918 (GRCm39) F129S possibly damaging Het
Zfhx2 T C 14: 55,304,357 (GRCm39) H1209R possibly damaging Het
Zfp28 T C 7: 6,397,998 (GRCm39) L811P probably damaging Het
Zfp616 T C 11: 73,975,321 (GRCm39) I530T possibly 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 58,293,818 (GRCm39) missense probably damaging 1.00
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
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