Incidental Mutation 'R4991:St3gal4'
ID 386198
Institutional Source Beutler Lab
Gene Symbol St3gal4
Ensembl Gene ENSMUSG00000032038
Gene Name ST3 beta-galactoside alpha-2,3-sialyltransferase 4
Synonyms ST3Gal IV, Siat4c
MMRRC Submission 042585-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R4991 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 34957872-35028160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34964432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 190 (V190A)
Ref Sequence ENSEMBL: ENSMUSP00000034537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034537] [ENSMUST00000213526] [ENSMUST00000214526] [ENSMUST00000215089] [ENSMUST00000215463] [ENSMUST00000215638] [ENSMUST00000216557] [ENSMUST00000217542] [ENSMUST00000217149]
AlphaFold Q91Y74
Predicted Effect possibly damaging
Transcript: ENSMUST00000034537
AA Change: V190A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034537
Gene: ENSMUSG00000032038
AA Change: V190A

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:Glyco_transf_29 70 332 4.1e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213526
Predicted Effect probably benign
Transcript: ENSMUST00000214526
Predicted Effect probably benign
Transcript: ENSMUST00000215089
Predicted Effect probably benign
Transcript: ENSMUST00000215463
Predicted Effect probably benign
Transcript: ENSMUST00000215638
Predicted Effect probably benign
Transcript: ENSMUST00000216557
Predicted Effect probably benign
Transcript: ENSMUST00000217542
Predicted Effect probably benign
Transcript: ENSMUST00000217149
Meta Mutation Damage Score 0.2134 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.0%
Validation Efficiency 95% (73/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycosyltransferase 29 family, a group of enzymes involved in protein glycosylation. The encoded protein is targeted to Golgi membranes but may be proteolytically processed and secreted. The gene product may also be involved in the increased expression of sialyl Lewis X antigen seen in inflammatory responses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygotes for a null allele show thrombocytopenia, altered platelet physiology, increased bleeding times, and abnormal leukocyte migration. Homozygotes for a different null allele fail to develop seizures in response to kindling, and show anxiety-like behaviors and altered sleep patterns. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 G T 14: 56,010,922 (GRCm39) T665K probably benign Het
Adgrf3 C T 5: 30,404,146 (GRCm39) V369M probably benign Het
Als2 T C 1: 59,246,927 (GRCm39) K571E probably benign Het
Amer3 A C 1: 34,627,822 (GRCm39) D687A probably benign Het
Asb14 T C 14: 26,637,015 (GRCm39) S586P probably damaging Het
Catspere2 A C 1: 177,925,987 (GRCm39) I218L probably benign Het
Chmp4b A G 2: 154,534,545 (GRCm39) E187G probably benign Het
Cox6b2 T C 7: 4,755,160 (GRCm39) D38G probably damaging Het
Cpm G A 10: 117,504,008 (GRCm39) C138Y probably damaging Het
Csmd3 G T 15: 47,864,874 (GRCm39) P785Q probably damaging Het
Cstf1 A G 2: 172,219,720 (GRCm39) Y277C probably damaging Het
Cstf2t T A 19: 31,061,983 (GRCm39) N506K probably damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Ebf2 A T 14: 67,627,106 (GRCm39) T265S possibly damaging Het
Elmo1 T C 13: 20,526,689 (GRCm39) F413S probably damaging Het
Fbp1 C T 13: 63,012,888 (GRCm39) V102I probably benign Het
Gm19684 A G 17: 36,438,364 (GRCm39) probably benign Het
Gm29106 T C 1: 118,106,121 (GRCm39) M37T probably benign Het
Grem2 A G 1: 174,664,379 (GRCm39) C157R probably damaging Het
Hdac5 T A 11: 102,096,450 (GRCm39) E252D probably damaging Het
Ifitm3 A T 7: 140,590,372 (GRCm39) F63I probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Irx4 G T 13: 73,413,626 (GRCm39) R32L probably benign Het
Itgb1bp1 C T 12: 21,324,849 (GRCm39) G69D probably damaging Het
Kcnh3 A G 15: 99,130,637 (GRCm39) D418G probably benign Het
Kif1a T C 1: 93,006,530 (GRCm39) T46A probably benign Het
Klk1b26 T A 7: 43,665,673 (GRCm39) probably null Het
Lca5l T C 16: 95,960,932 (GRCm39) E510G possibly damaging Het
Lrriq1 A G 10: 103,036,420 (GRCm39) I911T probably damaging Het
Mios T G 6: 8,215,847 (GRCm39) S348A probably benign Het
Mog T C 17: 37,328,381 (GRCm39) probably null Het
Mtmr7 A G 8: 41,007,386 (GRCm39) S516P probably damaging Het
Nat8f4 T C 6: 85,878,122 (GRCm39) K134E probably benign Het
Nbeal2 C T 9: 110,467,835 (GRCm39) C451Y probably damaging Het
Nkx2-1 T C 12: 56,581,724 (GRCm39) Y41C possibly damaging Het
Nmnat1 G A 4: 149,553,584 (GRCm39) T176M possibly damaging Het
Nrxn3 T A 12: 89,227,244 (GRCm39) I293N probably damaging Het
Or5af2 T C 11: 58,708,544 (GRCm39) S237P probably damaging Het
Or5b97 T G 19: 12,878,815 (GRCm39) T110P probably damaging Het
Or5m8 A G 2: 85,822,631 (GRCm39) M157V probably damaging Het
Osgin1 A G 8: 120,172,028 (GRCm39) E274G probably damaging Het
Otof G A 5: 30,551,525 (GRCm39) R343W probably damaging Het
Pcdha9 A T 18: 37,131,398 (GRCm39) I156F probably damaging Het
Pcsk4 A G 10: 80,161,215 (GRCm39) I233T possibly damaging Het
Pira12 T G 7: 3,898,571 (GRCm39) Q292H probably benign Het
Samd4 A T 14: 47,311,467 (GRCm39) S262C probably damaging Het
Snap91 T C 9: 86,672,207 (GRCm39) probably null Het
Spata31d1a T C 13: 59,850,965 (GRCm39) N388D probably benign Het
Sv2b T C 7: 74,767,470 (GRCm39) N642S possibly damaging Het
Svil T A 18: 5,056,810 (GRCm39) I561K probably benign Het
Tmem201 A T 4: 149,812,612 (GRCm39) Y235N possibly damaging Het
Tpx2 T C 2: 152,711,644 (GRCm39) S60P probably benign Het
Trpa1 T C 1: 14,980,970 (GRCm39) Y144C probably benign Het
U90926 G A 5: 92,357,879 (GRCm39) P91S probably benign Het
Utp20 G T 10: 88,582,796 (GRCm39) H2780Q probably benign Het
Vmn1r215 T G 13: 23,260,697 (GRCm39) F246V probably damaging Het
Vmn2r72 A G 7: 85,400,338 (GRCm39) L237S probably damaging Het
Washc5 A G 15: 59,215,929 (GRCm39) S817P probably damaging Het
Zbtb24 A G 10: 41,332,614 (GRCm39) probably null Het
Zfp212 G A 6: 47,903,796 (GRCm39) R127H probably damaging Het
Zfp268 C A 4: 145,348,904 (GRCm39) Q114K probably benign Het
Zfp740 G T 15: 102,116,714 (GRCm39) probably null Het
Other mutations in St3gal4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00691:St3gal4 APN 9 34,964,365 (GRCm39) unclassified probably benign
IGL01448:St3gal4 APN 9 34,963,627 (GRCm39) missense probably benign 0.00
IGL01770:St3gal4 APN 9 34,963,601 (GRCm39) missense possibly damaging 0.73
IGL02862:St3gal4 APN 9 34,963,543 (GRCm39) missense probably benign 0.32
fuji UTSW 9 34,964,469 (GRCm39) nonsense probably null
Granny_smith UTSW 9 34,964,558 (GRCm39) missense probably damaging 1.00
Pomology UTSW 9 34,964,375 (GRCm39) missense possibly damaging 0.67
R0362:St3gal4 UTSW 9 34,964,469 (GRCm39) nonsense probably null
R0863:St3gal4 UTSW 9 34,964,744 (GRCm39) missense probably damaging 1.00
R1457:St3gal4 UTSW 9 34,966,053 (GRCm39) missense possibly damaging 0.66
R1530:St3gal4 UTSW 9 34,963,592 (GRCm39) missense probably benign 0.00
R5452:St3gal4 UTSW 9 34,964,752 (GRCm39) missense probably damaging 1.00
R6277:St3gal4 UTSW 9 34,964,558 (GRCm39) missense probably damaging 1.00
R7564:St3gal4 UTSW 9 34,963,549 (GRCm39) missense probably benign 0.09
R7725:St3gal4 UTSW 9 34,964,375 (GRCm39) missense possibly damaging 0.67
R8080:St3gal4 UTSW 9 35,017,617 (GRCm39) splice site probably null
R8356:St3gal4 UTSW 9 34,964,438 (GRCm39) missense probably damaging 1.00
R8936:St3gal4 UTSW 9 34,964,723 (GRCm39) missense probably damaging 1.00
R8984:St3gal4 UTSW 9 34,966,944 (GRCm39) missense possibly damaging 0.90
R9258:St3gal4 UTSW 9 34,963,643 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAATGCCCTTGTCGAGAAGC -3'
(R):5'- GCCAAAAGGCCTGGTATCTC -3'

Sequencing Primer
(F):5'- GAAAGCCTGGTTCACCATGTC -3'
(R):5'- TGGTATCTCCAGTAATGGATGTTC -3'
Posted On 2016-05-10