Incidental Mutation 'R6417:St3gal1'
ID 518126
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 044559-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R6417 (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: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 92.8%
Validation Efficiency 97% (30/31)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 119,996,351 (GRCm39) K1426E possibly damaging Het
Abra C T 15: 41,729,452 (GRCm39) R316H probably benign Het
Adam7 T A 14: 68,742,070 (GRCm39) T729S probably benign Het
Arhgef17 A G 7: 100,579,269 (GRCm39) S560P probably damaging Het
Asb13 G A 13: 3,693,574 (GRCm39) V111I probably damaging Het
Eif2ak2 A C 17: 79,164,048 (GRCm39) L439R probably damaging Het
Lrrk2 C T 15: 91,696,549 (GRCm39) R2446C probably benign Het
Map3k10 A G 7: 27,362,709 (GRCm39) F459S probably damaging Het
Med1 T C 11: 98,048,054 (GRCm39) D914G probably damaging Het
Or4d10 T G 19: 12,051,324 (GRCm39) K224T probably benign Het
Or5b24 A C 19: 12,912,584 (GRCm39) T161P probably damaging Het
Or8b39 T A 9: 37,996,890 (GRCm39) S253T probably benign Het
Or8b41 T G 9: 38,054,611 (GRCm39) L55R probably damaging Het
Or8k38 A T 2: 86,488,510 (GRCm39) C97* probably null Het
Pkd1l2 C T 8: 117,740,638 (GRCm39) C2153Y probably damaging Het
Plk5 T C 10: 80,199,906 (GRCm39) V471A probably benign Het
Scn1a A G 2: 66,103,542 (GRCm39) I1906T probably damaging Het
Slc16a12 T C 19: 34,650,097 (GRCm39) probably null Het
Slc25a23 T C 17: 57,359,780 (GRCm39) I324V probably damaging Het
Sord A T 2: 122,094,602 (GRCm39) K330M possibly damaging Het
Srp54b T A 12: 55,296,855 (GRCm39) F184L probably damaging Het
Tcte1 A G 17: 45,846,056 (GRCm39) E220G probably damaging Het
Tfrc C T 16: 32,449,057 (GRCm39) T732I probably damaging Het
Tnrc6a A G 7: 122,770,297 (GRCm39) T696A probably benign Het
Ttn A G 2: 76,542,619 (GRCm39) Y33456H possibly damaging Het
Unc45a C G 7: 79,989,400 (GRCm39) E23Q probably benign Het
Urb2 C T 8: 124,773,938 (GRCm39) R1490W probably damaging Het
Wdr64 A T 1: 175,553,956 (GRCm39) D162V probably damaging Het
Zfp959 G A 17: 56,205,094 (GRCm39) G377D probably damaging Het
Zswim3 G A 2: 164,662,653 (GRCm39) V378M 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
R6387: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
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'- AGGAACCTTACGGAACAGC -3'
(R):5'- CTGTCTGGCCTATGTCTACAAG -3'

Sequencing Primer
(F):5'- CCCAGCAGGAGTGATACGTTG -3'
(R):5'- AGGTTCCCATTGTACACACGGAG -3'
Posted On 2018-05-24