Incidental Mutation 'R6387:St3gal1'
ID 514678
Institutional Source Beutler Lab
Gene Symbol St3gal1
Ensembl Gene ENSMUSG00000013846
Gene Name ST3 beta-galactoside alpha-2,3-sialyltransferase 1
Synonyms Siat4a, CMP-N-acetylneuraminate: [beta-galactosidase alpha-2,3] sialytransferase, ST3GalI, Siat4
MMRRC Submission 044536-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R6387 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 66974724-67048575 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66983195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 187 (V187A)
Ref Sequence ENSEMBL: ENSMUSP00000155359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092640] [ENSMUST00000229028] [ENSMUST00000229213]
AlphaFold P54751
Predicted Effect possibly damaging
Transcript: ENSMUST00000092640
AA Change: V187A

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000090307
Gene: ENSMUSG00000013846
AA Change: V187A

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:Glyco_transf_29 80 336 1.7e-74 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000229028
AA Change: V187A

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000229213
AA Change: V187A

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230150
Meta Mutation Damage Score 0.4530 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 98% (42/43)
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 type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi but can be proteolytically processed to a soluble form. Correct glycosylation of the encoded protein may be critical to its sialyltransferase activity. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4B. Two transcript variants encoding the same protein have been found for this gene. Other transcript variants may exist, but have not been fully characterized yet. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in altered terminal glycosylation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik T C 5: 109,884,881 (GRCm39) K326E possibly damaging Het
Acot1 A G 12: 84,056,627 (GRCm39) D115G probably benign Het
Adm T C 7: 110,227,502 (GRCm39) I6T possibly damaging Het
Ahi1 A G 10: 20,844,942 (GRCm39) Y349C probably damaging Het
Aldh1a1 A G 19: 20,595,323 (GRCm39) E84G probably damaging Het
Ankrd31 A G 13: 96,967,081 (GRCm39) D520G probably damaging Het
Ano4 A T 10: 88,807,267 (GRCm39) Y736* probably null Het
Atp6v1a A G 16: 43,907,806 (GRCm39) F612S possibly damaging Het
Bltp3b C T 10: 89,638,919 (GRCm39) Q442* probably null Het
Calcb G A 7: 114,319,025 (GRCm39) V17I possibly damaging Het
Cfap70 C T 14: 20,498,643 (GRCm39) V15M probably damaging Het
Chad C T 11: 94,458,663 (GRCm39) H271Y possibly damaging Het
Csgalnact1 C T 8: 68,811,365 (GRCm39) G435D probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Eprs1 T A 1: 185,119,281 (GRCm39) M487K possibly damaging Het
Fat4 A G 3: 39,037,934 (GRCm39) E3862G probably damaging Het
Gdf10 T A 14: 33,645,961 (GRCm39) S37T probably benign Het
Hhatl T A 9: 121,619,467 (GRCm39) H39L probably benign Het
Icam4 A C 9: 20,941,505 (GRCm39) S215R possibly damaging Het
Ighv1-18 T C 12: 114,646,280 (GRCm39) E108G probably damaging Het
Iqcd T C 5: 120,744,920 (GRCm39) I416T probably benign Het
Marf1 T A 16: 13,959,504 (GRCm39) *577L probably null Het
Mark2 A G 19: 7,263,267 (GRCm39) F167L probably damaging Het
Mpdz T C 4: 81,299,946 (GRCm39) T351A possibly damaging Het
Mrps27 A G 13: 99,536,825 (GRCm39) I113V possibly damaging Het
Numbl C T 7: 26,976,115 (GRCm39) T265I probably damaging Het
Obsl1 C T 1: 75,468,006 (GRCm39) A1296T probably benign Het
Or10g9 A G 9: 39,912,148 (GRCm39) I125T probably damaging Het
Pcdhb21 A G 18: 37,648,385 (GRCm39) I505V probably benign Het
Pfas A G 11: 68,891,291 (GRCm39) F269L probably damaging Het
Prkdc G A 16: 15,516,679 (GRCm39) V1018I probably benign Het
Prl4a1 T A 13: 28,202,482 (GRCm39) V19E possibly damaging Het
Ptpn22 A G 3: 103,792,702 (GRCm39) D327G probably benign Het
Smad3 G T 9: 63,562,047 (GRCm39) D310E probably benign Het
Sparcl1 T A 5: 104,232,926 (GRCm39) D625V probably damaging Het
Spta1 G A 1: 174,058,899 (GRCm39) A1945T probably benign Het
Sympk T C 7: 18,786,423 (GRCm39) Y1009H possibly damaging Het
Trio A G 15: 27,752,825 (GRCm39) F1026L probably damaging Het
Unc5d T A 8: 29,365,554 (GRCm39) K144* probably null Het
Unk A G 11: 115,945,766 (GRCm39) N479S possibly damaging Het
Zfp710 T C 7: 79,735,775 (GRCm39) I514T probably damaging Het
Zfp993 A G 4: 146,741,975 (GRCm39) T100A probably damaging Het
Other mutations in St3gal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01528:St3gal1 APN 15 66,984,466 (GRCm39) missense probably benign 0.03
Benelux UTSW 15 66,985,634 (GRCm39) nonsense probably null
Lichtenstein UTSW 15 66,980,086 (GRCm39) missense possibly damaging 0.87
Luxembourg UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
Monaco UTSW 15 66,985,511 (GRCm39) missense probably damaging 0.99
Strasbourg UTSW 15 66,978,522 (GRCm39) missense probably damaging 0.99
R0452:St3gal1 UTSW 15 66,981,504 (GRCm39) splice site probably benign
R0478:St3gal1 UTSW 15 66,985,579 (GRCm39) missense probably damaging 1.00
R0735:St3gal1 UTSW 15 66,985,536 (GRCm39) missense probably benign
R2357:St3gal1 UTSW 15 66,985,631 (GRCm39) missense probably benign 0.01
R5061:St3gal1 UTSW 15 66,980,078 (GRCm39) missense probably benign 0.40
R5199:St3gal1 UTSW 15 66,985,564 (GRCm39) missense probably benign 0.00
R5734:St3gal1 UTSW 15 66,978,522 (GRCm39) missense probably damaging 0.99
R5828:St3gal1 UTSW 15 66,985,634 (GRCm39) nonsense probably null
R6370:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6371:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6373:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6385:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6388:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6417:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6420:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6421:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6462:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6463:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6469:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6473:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6474:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6759:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6760:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6894:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R6963:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R7250:St3gal1 UTSW 15 66,978,578 (GRCm39) missense possibly damaging 0.89
R7394:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R7588:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R7590:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R7591:St3gal1 UTSW 15 66,983,195 (GRCm39) missense possibly damaging 0.52
R7860:St3gal1 UTSW 15 66,983,114 (GRCm39) missense probably benign 0.38
R7954:St3gal1 UTSW 15 66,984,422 (GRCm39) missense probably damaging 1.00
R8346:St3gal1 UTSW 15 66,985,511 (GRCm39) missense probably damaging 0.99
R8347:St3gal1 UTSW 15 66,985,511 (GRCm39) missense probably damaging 0.99
R8348:St3gal1 UTSW 15 66,985,511 (GRCm39) missense probably damaging 0.99
R8895:St3gal1 UTSW 15 66,980,086 (GRCm39) missense possibly damaging 0.87
R9765:St3gal1 UTSW 15 66,981,499 (GRCm39) missense possibly damaging 0.83
Z1177:St3gal1 UTSW 15 66,983,216 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- GAGGAACCTTACGGAACAGC -3'
(R):5'- GTCTGGCCTATGTCTACAAGG -3'

Sequencing Primer
(F):5'- CCCAGCAGGAGTGATACGTTG -3'
(R):5'- AGGTTCCCATTGTACACACGGAG -3'
Posted On 2018-05-04