Incidental Mutation 'R1605:St3gal5'
ID 176393
Institutional Source Beutler Lab
Gene Symbol St3gal5
Ensembl Gene ENSMUSG00000056091
Gene Name ST3 beta-galactoside alpha-2,3-sialyltransferase 5
Synonyms GM3 synthase, GM3-specific sialytransferase, 3S-T, [a]2, ST3Gal V, mST3Gal V, Siat9
MMRRC Submission 039642-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R1605 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 72074576-72131555 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72119272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 128 (L128P)
Ref Sequence ENSEMBL: ENSMUSP00000109747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069994] [ENSMUST00000114112] [ENSMUST00000188366]
AlphaFold O88829
Predicted Effect probably benign
Transcript: ENSMUST00000069994
AA Change: L155P

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000070414
Gene: ENSMUSG00000056091
AA Change: L155P

DomainStartEndE-ValueType
transmembrane domain 66 88 N/A INTRINSIC
Pfam:Glyco_transf_29 141 411 3e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114112
AA Change: L128P

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109747
Gene: ENSMUSG00000056091
AA Change: L128P

DomainStartEndE-ValueType
transmembrane domain 39 61 N/A INTRINSIC
Pfam:Glyco_transf_29 111 385 4.9e-71 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000187007
AA Change: L129P
Predicted Effect probably benign
Transcript: ENSMUST00000188366
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 99% (75/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted inactivation of this gene leads to inability to synthesize GM3 ganglioside. Homozygotes for a null allele exhibit enhanced sensitivity to insulin. Homozygotes for a different null allele show resistance to botulinum neurotoxin type C. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730409E04Rik A G 4: 126,506,104 (GRCm39) K211E probably damaging Het
Acot7 A G 4: 152,291,285 (GRCm39) I84V possibly damaging Het
Ankrd44 A G 1: 54,867,781 (GRCm39) V34A probably benign Het
Atp4b A T 8: 13,443,489 (GRCm39) M63K probably damaging Het
Atr T A 9: 95,818,516 (GRCm39) I2163K probably damaging Het
Azgp1 A T 5: 137,983,426 (GRCm39) R34* probably null Het
Ccdc152 T G 15: 3,327,603 (GRCm39) K58T probably damaging Het
Ccdc88b T A 19: 6,827,837 (GRCm39) Q912L probably benign Het
Cdc42ep5 T A 7: 4,154,395 (GRCm39) H131L probably benign Het
Chd7 G A 4: 8,844,675 (GRCm39) E1595K probably damaging Het
Col11a1 G A 3: 113,925,290 (GRCm39) G41D probably damaging Het
Cyp2b23 C T 7: 26,385,843 (GRCm39) V5I probably benign Het
D430041D05Rik A G 2: 104,085,915 (GRCm39) V22A possibly damaging Het
Ddi1 T C 9: 6,266,012 (GRCm39) Y119C probably benign Het
Dysf T C 6: 84,083,923 (GRCm39) L785P probably damaging Het
Eqtn T A 4: 94,816,587 (GRCm39) T69S possibly damaging Het
F11 T A 8: 45,694,617 (GRCm39) K581N probably damaging Het
Gli2 G A 1: 118,782,290 (GRCm39) P172S probably damaging Het
Gm7579 G T 7: 141,765,603 (GRCm39) C3F unknown Het
Grin2a A G 16: 9,481,194 (GRCm39) V501A possibly damaging Het
Grk4 G A 5: 34,831,901 (GRCm39) D57N probably damaging Het
Gsdma A T 11: 98,557,319 (GRCm39) D86V probably damaging Het
Gsx1 A G 5: 147,126,738 (GRCm39) E187G probably damaging Het
Hdac1-ps A G 17: 78,799,537 (GRCm39) D176G probably damaging Het
Inpp5k T A 11: 75,524,307 (GRCm39) F75L probably benign Het
Itpr1 T C 6: 108,326,620 (GRCm39) V114A possibly damaging Het
Izumo3 A T 4: 92,032,977 (GRCm39) C130S probably damaging Het
Mei4 G A 9: 81,809,639 (GRCm39) E241K possibly damaging Het
Mocs2 T C 13: 114,961,120 (GRCm39) V39A probably benign Het
Mroh2b G A 15: 4,974,572 (GRCm39) R1184H probably benign Het
Msh3 T C 13: 92,436,783 (GRCm39) Q509R probably null Het
Myh8 T C 11: 67,192,497 (GRCm39) W1459R probably damaging Het
Mypop T A 7: 18,734,918 (GRCm39) probably benign Het
Ndc1 C A 4: 107,225,293 (GRCm39) T3K probably damaging Het
Nf1 A C 11: 79,331,749 (GRCm39) M695L probably benign Het
Nup50l A G 6: 96,141,793 (GRCm39) M417T probably benign Het
Nutm2 C A 13: 50,623,955 (GRCm39) D217E possibly damaging Het
Or52a20 T C 7: 103,365,858 (GRCm39) I19T probably damaging Het
Or5b122 A G 19: 13,562,994 (GRCm39) T109A probably benign Het
Pde6c C A 19: 38,129,940 (GRCm39) D283E probably damaging Het
Phldb2 A G 16: 45,591,142 (GRCm39) probably benign Het
Pigt G C 2: 164,349,419 (GRCm39) R574P probably damaging Het
Pkd1 T C 17: 24,796,500 (GRCm39) I2354T possibly damaging Het
Prdm15 T C 16: 97,640,506 (GRCm39) E27G probably damaging Het
Ptpn14 A G 1: 189,597,709 (GRCm39) I1140V probably benign Het
Rdx T C 9: 51,974,891 (GRCm39) V9A probably damaging Het
Rfx7 T C 9: 72,519,071 (GRCm39) S258P probably damaging Het
Rnf17 G T 14: 56,730,822 (GRCm39) G1209C probably damaging Het
S1pr4 C T 10: 81,335,225 (GRCm39) probably null Het
Scml2 G T X: 160,014,442 (GRCm39) E566D possibly damaging Het
Serpinb1b T A 13: 33,277,646 (GRCm39) V293E possibly damaging Het
Serpinb9b T C 13: 33,222,112 (GRCm39) probably null Het
Sez6l A C 5: 112,622,915 (GRCm39) I212S probably damaging Het
Son T C 16: 91,454,552 (GRCm39) S1100P probably damaging Het
Spag9 G A 11: 93,939,365 (GRCm39) R98H probably damaging Het
Spata31e2 A T 1: 26,723,511 (GRCm39) H556Q possibly damaging Het
Stra6 A T 9: 58,059,166 (GRCm39) M510L probably benign Het
Stxbp5l A G 16: 37,028,473 (GRCm39) V530A probably benign Het
Tatdn1 A G 15: 58,793,039 (GRCm39) probably benign Het
Tbc1d8 A G 1: 39,430,206 (GRCm39) S466P probably benign Het
Tmem199 A T 11: 78,399,152 (GRCm39) M175K possibly damaging Het
Trmt12 A G 15: 58,744,764 (GRCm39) E54G probably benign Het
Usp37 G T 1: 74,532,163 (GRCm39) Q77K possibly damaging Het
Vezf1 A G 11: 87,967,125 (GRCm39) I301V possibly damaging Het
Vmn1r34 T G 6: 66,613,932 (GRCm39) M269L probably benign Het
Wdr93 C A 7: 79,421,257 (GRCm39) probably null Het
Wnk2 T C 13: 49,214,370 (GRCm39) D644G probably damaging Het
Zc3h13 C T 14: 75,574,923 (GRCm39) R1591* probably null Het
Zfp131 G A 13: 120,230,316 (GRCm39) L371F probably damaging Het
Zfp180 T A 7: 23,804,049 (GRCm39) V156D probably benign Het
Zfp646 G T 7: 127,479,359 (GRCm39) probably null Het
Zscan12 C A 13: 21,550,813 (GRCm39) T144K probably benign Het
Other mutations in St3gal5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02137:St3gal5 APN 6 72,105,266 (GRCm39) missense probably benign 0.00
IGL02277:St3gal5 APN 6 72,119,184 (GRCm39) missense possibly damaging 0.50
IGL02756:St3gal5 APN 6 72,126,157 (GRCm39) missense probably null 0.83
IGL02904:St3gal5 APN 6 72,124,108 (GRCm39) missense possibly damaging 0.94
R0107:St3gal5 UTSW 6 72,119,133 (GRCm39) missense probably benign 0.11
R1854:St3gal5 UTSW 6 72,109,077 (GRCm39) missense probably damaging 1.00
R2875:St3gal5 UTSW 6 72,124,114 (GRCm39) missense possibly damaging 0.96
R3692:St3gal5 UTSW 6 72,126,013 (GRCm39) missense probably benign 0.05
R5071:St3gal5 UTSW 6 72,109,037 (GRCm39) missense probably damaging 1.00
R5265:St3gal5 UTSW 6 72,126,115 (GRCm39) missense probably damaging 1.00
R5609:St3gal5 UTSW 6 72,130,446 (GRCm39) missense possibly damaging 0.75
R8085:St3gal5 UTSW 6 72,074,925 (GRCm39) missense unknown
R8199:St3gal5 UTSW 6 72,119,175 (GRCm39) missense probably benign
R8251:St3gal5 UTSW 6 72,126,144 (GRCm39) missense probably benign 0.03
R8294:St3gal5 UTSW 6 72,074,816 (GRCm39) missense
R8332:St3gal5 UTSW 6 72,119,165 (GRCm39) nonsense probably null
R8410:St3gal5 UTSW 6 72,119,281 (GRCm39) missense probably benign 0.00
R8730:St3gal5 UTSW 6 72,130,461 (GRCm39) missense probably damaging 1.00
R9363:St3gal5 UTSW 6 72,119,301 (GRCm39) nonsense probably null
R9599:St3gal5 UTSW 6 72,130,580 (GRCm39) missense probably benign 0.30
RF060:St3gal5 UTSW 6 72,074,836 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- AGCTCAGAGCTATGCTCAGGAAGTC -3'
(R):5'- TTGTCCCCAAAGCCAGGTGTTG -3'

Sequencing Primer
(F):5'- TATGCTCAGGAAGTCTTGCAGAAG -3'
(R):5'- TGGAGCGCAGATACCTTATTACC -3'
Posted On 2014-04-24