Incidental Mutation 'R5265:St3gal5'
ID 401646
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 042833-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R5265 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 72074576-72131555 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72126115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 320 (I320N)
Ref Sequence ENSEMBL: ENSMUSP00000070414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069994] [ENSMUST00000114112]
AlphaFold O88829
Predicted Effect probably damaging
Transcript: ENSMUST00000069994
AA Change: I320N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000070414
Gene: ENSMUSG00000056091
AA Change: I320N

transmembrane domain 66 88 N/A INTRINSIC
Pfam:Glyco_transf_29 141 411 3e-66 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114112
AA Change: I293N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109747
Gene: ENSMUSG00000056091
AA Change: I293N

transmembrane domain 39 61 N/A INTRINSIC
Pfam:Glyco_transf_29 111 385 4.9e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187007
Meta Mutation Damage Score 0.6144 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (59/59)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,166,177 (GRCm39) W66R probably damaging Het
Adamts3 A G 5: 90,009,411 (GRCm39) V84A possibly damaging Het
Caap1 C A 4: 94,389,465 (GRCm39) E290* probably null Het
Cant1 G A 11: 118,298,876 (GRCm39) R296C probably damaging Het
Cdh5 A T 8: 104,869,371 (GRCm39) H699L probably benign Het
Cfdp1 T C 8: 112,557,617 (GRCm39) T175A probably benign Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Comtd1 G A 14: 21,898,861 (GRCm39) T27I probably benign Het
Copg1 T A 6: 87,869,252 (GRCm39) V155D probably damaging Het
Dag1 A G 9: 108,084,898 (GRCm39) Y748H possibly damaging Het
Dmwd T A 7: 18,814,206 (GRCm39) N285K possibly damaging Het
Dsp A G 13: 38,379,159 (GRCm39) E1968G possibly damaging Het
Ednra A G 8: 78,394,004 (GRCm39) I364T probably damaging Het
Elovl3 C A 19: 46,123,120 (GRCm39) T232K probably damaging Het
Ercc3 T A 18: 32,387,296 (GRCm39) I503N probably damaging Het
Ercc6 C A 14: 32,291,580 (GRCm39) A1008D probably benign Het
Gm10563 TTTC TTTCATTC 4: 155,698,953 (GRCm39) probably null Het
H2-DMb2 G T 17: 34,367,536 (GRCm39) V117F probably damaging Het
Helt A T 8: 46,745,470 (GRCm39) W138R probably damaging Het
Itga11 A T 9: 62,644,694 (GRCm39) H215L probably benign Het
Kcnn1 T A 8: 71,307,297 (GRCm39) I156F probably benign Het
Kdm1b A G 13: 47,216,445 (GRCm39) N272D probably benign Het
Kdm2b T C 5: 123,016,651 (GRCm39) T1161A probably damaging Het
Lin54 A G 5: 100,633,378 (GRCm39) L102P probably damaging Het
Mlh1 A C 9: 111,100,591 (GRCm39) M1R probably null Het
Naip2 G A 13: 100,289,068 (GRCm39) L1165F probably damaging Het
Nfkbiz A G 16: 55,640,004 (GRCm39) S118P probably damaging Het
Nkx3-2 T A 5: 41,919,191 (GRCm39) M266L probably benign Het
Npr1 T C 3: 90,364,309 (GRCm39) E771G probably benign Het
Obox8 C T 7: 14,065,954 (GRCm39) R188H probably benign Het
Odad1 T A 7: 45,596,859 (GRCm39) D395E probably damaging Het
Or5h19 A T 16: 58,856,506 (GRCm39) V198D possibly damaging Het
Or5p72 T A 7: 108,022,609 (GRCm39) V277E possibly damaging Het
Palm3 T C 8: 84,748,159 (GRCm39) probably null Het
Palmd A T 3: 116,717,498 (GRCm39) V333D possibly damaging Het
Pikfyve A G 1: 65,306,988 (GRCm39) E1747G possibly damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ranbp3l T A 15: 9,037,077 (GRCm39) F127I probably benign Het
Rsl1d1 A G 16: 11,019,248 (GRCm39) F97L possibly damaging Het
Scaper A G 9: 55,771,830 (GRCm39) V362A probably benign Het
Scg5 A T 2: 113,607,210 (GRCm39) L192* probably null Het
Slc34a2 T C 5: 53,218,776 (GRCm39) I198T probably damaging Het
Slc45a3 T A 1: 131,905,932 (GRCm39) D318E possibly damaging Het
Sorl1 A G 9: 42,017,812 (GRCm39) M105T possibly damaging Het
Stx17 A G 4: 48,183,470 (GRCm39) probably benign Het
Syt5 C T 7: 4,544,074 (GRCm39) probably null Het
Thrap3 A G 4: 126,061,433 (GRCm39) S774P probably damaging Het
Tnc A T 4: 63,911,443 (GRCm39) M1376K probably benign Het
Tnks1bp1 T A 2: 84,893,098 (GRCm39) D1008E probably benign Het
Trav7-1 G T 14: 52,892,761 (GRCm39) A105S probably damaging Het
Vmn1r28 T A 6: 58,242,949 (GRCm39) V264D probably damaging Het
Vmn1r44 T C 6: 89,870,821 (GRCm39) V46A probably benign Het
Vmn2r10 A G 5: 109,143,586 (GRCm39) I788T probably damaging Het
Vmn2r78 T A 7: 86,569,332 (GRCm39) I75N probably damaging Het
Zfp821 T C 8: 110,450,991 (GRCm39) M328T probably damaging Het
Zfp995 G A 17: 22,099,604 (GRCm39) P210L possibly damaging 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
R1605:St3gal5 UTSW 6 72,119,272 (GRCm39) missense probably benign 0.42
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
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

Sequencing Primer
Posted On 2016-07-06