Incidental Mutation 'IGL02904:St3gal5'
ID 363752
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL02904
Quality Score
Status
Chromosome 6
Chromosomal Location 72074576-72131555 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72124108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 212 (I212L)
Ref Sequence ENSEMBL: ENSMUSP00000109747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069994] [ENSMUST00000114112] [ENSMUST00000188366]
AlphaFold O88829
Predicted Effect possibly damaging
Transcript: ENSMUST00000069994
AA Change: I239L

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000070414
Gene: ENSMUSG00000056091
AA Change: I239L

DomainStartEndE-ValueType
transmembrane domain 66 88 N/A INTRINSIC
Pfam:Glyco_transf_29 141 411 3e-66 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114112
AA Change: I212L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109747
Gene: ENSMUSG00000056091
AA Change: I212L

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: I213L
Predicted Effect probably benign
Transcript: ENSMUST00000188366
Coding Region Coverage
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,620,990 (GRCm39) S564P probably damaging Het
A1cf A C 19: 31,912,206 (GRCm39) K432N probably damaging Het
Acp7 A T 7: 28,307,428 (GRCm39) D476E probably benign Het
Aqp9 T A 9: 71,045,430 (GRCm39) I60F probably damaging Het
B2m A C 2: 121,981,642 (GRCm39) probably benign Het
B3galt1 T A 2: 67,949,089 (GRCm39) V268E probably damaging Het
Cacna1a T C 8: 85,306,149 (GRCm39) L1299P probably damaging Het
Cemip2 G A 19: 21,801,207 (GRCm39) D775N possibly damaging Het
Ces2e C T 8: 105,657,970 (GRCm39) P356L probably benign Het
Crmp1 A T 5: 37,446,262 (GRCm39) K639N possibly damaging Het
Ddx17 G A 15: 79,414,638 (GRCm39) R510* probably null Het
Dner C T 1: 84,512,665 (GRCm39) V301M probably damaging Het
Efr3b T G 12: 4,034,583 (GRCm39) I196L probably damaging Het
Fat1 T C 8: 45,493,719 (GRCm39) V3955A probably damaging Het
Gid4 T C 11: 60,308,561 (GRCm39) I27T probably benign Het
Glis3 A G 19: 28,335,352 (GRCm39) F571L possibly damaging Het
Gm4950 T C 18: 51,998,803 (GRCm39) I51V probably benign Het
Gm5592 T C 7: 40,937,810 (GRCm39) L364P probably damaging Het
Gucy2d G A 7: 98,111,396 (GRCm39) probably null Het
Kpna6 A G 4: 129,544,480 (GRCm39) I411T probably benign Het
Lcn11 A G 2: 25,669,278 (GRCm39) D145G probably null Het
Lrrc37 A C 11: 103,507,187 (GRCm39) probably benign Het
Med12 A G X: 100,337,784 (GRCm39) probably null Het
Mtor A G 4: 148,536,851 (GRCm39) K42E possibly damaging Het
Mtor A G 4: 148,576,069 (GRCm39) probably benign Het
Mybpc2 T C 7: 44,171,765 (GRCm39) D55G probably benign Het
Myo1f T A 17: 33,804,632 (GRCm39) C445* probably null Het
Naca C T 10: 127,879,159 (GRCm39) probably benign Het
Nlgn2 T C 11: 69,716,666 (GRCm39) Y625C possibly damaging Het
Nlrp9c A T 7: 26,074,715 (GRCm39) C827S probably damaging Het
Nudt12 T A 17: 59,317,347 (GRCm39) N100I probably benign Het
Or2t43 T A 11: 58,457,623 (GRCm39) T183S possibly damaging Het
Or5g9 T C 2: 85,552,099 (GRCm39) S117P probably damaging Het
Or7d10 A T 9: 19,832,393 (GRCm39) D296V probably damaging Het
Or8s5 A T 15: 98,238,729 (GRCm39) L31Q probably null Het
Picalm G A 7: 89,825,619 (GRCm39) probably benign Het
Pkd1l1 A G 11: 8,818,450 (GRCm39) probably benign Het
Scube3 T C 17: 28,386,574 (GRCm39) V831A probably benign Het
Slco5a1 A G 1: 12,991,321 (GRCm39) I456T probably damaging Het
Snx3 A G 10: 42,410,690 (GRCm39) H110R probably damaging Het
Spef2 T C 15: 9,679,432 (GRCm39) D635G probably damaging Het
Syvn1 T A 19: 6,099,845 (GRCm39) Y192* probably null Het
Tmtc1 A G 6: 148,150,980 (GRCm39) probably benign Het
Trappc14 C T 5: 138,258,864 (GRCm39) V232I probably benign Het
Trip11 T G 12: 101,853,097 (GRCm39) E499D probably damaging Het
Ttn A T 2: 76,562,375 (GRCm39) N28823K probably damaging Het
Unc13c C A 9: 73,388,349 (GRCm39) G2146* probably null Het
Ush2a G T 1: 188,638,703 (GRCm39) V4038L probably benign Het
Zc3h7a T G 16: 10,968,530 (GRCm39) D483A probably damaging Het
Zfyve19 T C 2: 119,040,953 (GRCm39) 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
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
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
Posted On 2015-12-18