Incidental Mutation 'IGL02335:A4gnt'
ID 289688
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A4gnt
Ensembl Gene ENSMUSG00000037953
Gene Name alpha-1,4-N-acetylglucosaminyltransferase
Synonyms alpha4GnT, LOC333424
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # IGL02335
Quality Score
Chromosome 9
Chromosomal Location 99612502-99622367 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 99620213 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 142 (T142I)
Ref Sequence ENSEMBL: ENSMUSP00000045629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042553]
AlphaFold Q14BT6
Predicted Effect probably benign
Transcript: ENSMUST00000042553
AA Change: T142I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045629
Gene: ENSMUSG00000037953
AA Change: T142I

transmembrane domain 5 24 N/A INTRINSIC
Pfam:Gly_transf_sug 65 188 4e-26 PFAM
Pfam:Gb3_synth 197 324 2.5e-49 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein from the glycosyltransferase 32 family. The encoded enzyme catalyzes the transfer of N-acetylglucosamine to alpha-1,4-linked beta-galactose residues. This enzyme is required for type III mucin synthesis and it is largely associated with the Golgi apparatus membrane. The encoded protein appears to be expressed in adenocarcinoma cells of pancreatic, biliary tract and gastric cancers.[provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit gastric adenocarcinoma with increased cell proliferation, angiogenesis, inflammation and gastric mucosal thickness. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik A T 7: 140,296,540 (GRCm38) N526Y probably damaging Het
Acaca A G 11: 84,214,258 (GRCm38) T147A possibly damaging Het
Agbl3 A G 6: 34,799,750 (GRCm38) D397G probably damaging Het
Ank1 C T 8: 23,135,638 (GRCm38) T1597M possibly damaging Het
Arl4d A G 11: 101,666,929 (GRCm38) T94A possibly damaging Het
Cd22 A G 7: 30,876,134 (GRCm38) I161T probably damaging Het
Clcn7 C T 17: 25,146,847 (GRCm38) L166F probably benign Het
Cnbd1 G T 4: 19,055,095 (GRCm38) N110K possibly damaging Het
Col14a1 A T 15: 55,463,769 (GRCm38) probably benign Het
Col6a6 C T 9: 105,784,101 (GRCm38) V270M probably damaging Het
Cox8b C A 7: 140,899,077 (GRCm38) G42W probably damaging Het
Csn1s1 A T 5: 87,680,845 (GRCm38) D275V probably benign Het
Cubn T A 2: 13,427,834 (GRCm38) probably null Het
Dctn2 T C 10: 127,275,821 (GRCm38) probably benign Het
Dnm1l A G 16: 16,342,740 (GRCm38) probably benign Het
Dpp4 T C 2: 62,334,644 (GRCm38) E687G probably benign Het
Fbxw20 T C 9: 109,223,309 (GRCm38) K249E possibly damaging Het
Fhl2 C T 1: 43,128,390 (GRCm38) W181* probably null Het
G2e3 T A 12: 51,369,158 (GRCm38) M559K probably benign Het
Gdap1l1 A T 2: 163,447,595 (GRCm38) Y160F possibly damaging Het
Gm1110 T C 9: 26,881,763 (GRCm38) I572M probably benign Het
Gm5538 G A 3: 59,743,605 (GRCm38) M49I probably benign Het
Gpatch2l T A 12: 86,256,937 (GRCm38) probably benign Het
Kcnq4 A G 4: 120,715,854 (GRCm38) L250P probably damaging Het
Lamc2 A T 1: 153,166,216 (GRCm38) N57K probably benign Het
Lingo1 A G 9: 56,620,081 (GRCm38) L408P probably damaging Het
Mmrn1 A T 6: 60,977,147 (GRCm38) N804I possibly damaging Het
Mroh7 A G 4: 106,707,782 (GRCm38) L545S probably damaging Het
Nup188 T A 2: 30,323,636 (GRCm38) probably null Het
Olfr1442 T C 19: 12,674,238 (GRCm38) I11T probably damaging Het
Olfr1494 A G 19: 13,749,934 (GRCm38) D276G probably benign Het
Olfr96 A G 17: 37,225,326 (GRCm38) N67S probably damaging Het
Pls1 A T 9: 95,784,183 (GRCm38) N138K probably benign Het
Prkch C A 12: 73,702,512 (GRCm38) N345K probably benign Het
Reps1 T C 10: 18,056,117 (GRCm38) probably null Het
Rrp7a T C 15: 83,122,691 (GRCm38) E15G probably benign Het
Scn1a T A 2: 66,277,661 (GRCm38) T1557S possibly damaging Het
Smtn T C 11: 3,526,215 (GRCm38) E602G probably damaging Het
Syvn1 T C 19: 6,050,093 (GRCm38) probably null Het
Tbxas1 A G 6: 39,023,080 (GRCm38) D267G probably damaging Het
Topbp1 A G 9: 103,328,523 (GRCm38) N787D probably damaging Het
Vmn2r22 T G 6: 123,638,092 (GRCm38) S180R probably damaging Het
Zfp345 T A 2: 150,474,543 (GRCm38) E48D possibly damaging Het
Zfp608 G A 18: 54,897,437 (GRCm38) Q1144* probably null Het
Zfp936 T A 7: 43,187,267 (GRCm38) L34Q probably damaging Het
Other mutations in A4gnt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:A4gnt APN 9 99,620,436 (GRCm38) nonsense probably null
IGL01509:A4gnt APN 9 99,613,766 (GRCm38) missense probably benign 0.01
IGL03339:A4gnt APN 9 99,620,548 (GRCm38) missense probably damaging 1.00
PIT4466001:A4gnt UTSW 9 99,620,560 (GRCm38) missense probably damaging 0.99
PIT4472001:A4gnt UTSW 9 99,620,560 (GRCm38) missense probably damaging 0.99
R2027:A4gnt UTSW 9 99,620,201 (GRCm38) missense possibly damaging 0.50
R2061:A4gnt UTSW 9 99,620,359 (GRCm38) missense probably damaging 1.00
R4130:A4gnt UTSW 9 99,620,618 (GRCm38) missense possibly damaging 0.81
R4131:A4gnt UTSW 9 99,620,618 (GRCm38) missense possibly damaging 0.81
R5249:A4gnt UTSW 9 99,620,231 (GRCm38) missense probably damaging 0.99
R5338:A4gnt UTSW 9 99,620,544 (GRCm38) missense probably damaging 1.00
R5672:A4gnt UTSW 9 99,620,330 (GRCm38) missense possibly damaging 0.95
R5785:A4gnt UTSW 9 99,620,672 (GRCm38) missense probably damaging 1.00
R6519:A4gnt UTSW 9 99,613,670 (GRCm38) missense probably damaging 1.00
R6630:A4gnt UTSW 9 99,613,918 (GRCm38) missense probably benign 0.00
R7296:A4gnt UTSW 9 99,620,282 (GRCm38) missense probably damaging 0.97
R7514:A4gnt UTSW 9 99,620,545 (GRCm38) missense probably benign 0.05
R7731:A4gnt UTSW 9 99,620,417 (GRCm38) missense possibly damaging 0.63
R9311:A4gnt UTSW 9 99,613,763 (GRCm38) missense possibly damaging 0.82
R9786:A4gnt UTSW 9 99,620,483 (GRCm38) missense possibly damaging 0.65
Z1088:A4gnt UTSW 9 99,613,841 (GRCm38) missense probably damaging 0.97
Posted On 2015-04-16