Incidental Mutation 'IGL02335:A4gnt'
ID289688
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A4gnt
Ensembl Gene ENSMUSG00000037953
Gene Namealpha-1,4-N-acetylglucosaminyltransferase
Synonymsalpha4GnT, LOC333424
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.113) question?
Stock #IGL02335
Quality Score
Status
Chromosome9
Chromosomal Location99612502-99622367 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 99620213 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 142 (T142I)
Ref Sequence ENSEMBL: ENSMUSP00000045629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042553]
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

DomainStartEndE-ValueType
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 N526Y probably damaging Het
Acaca A G 11: 84,214,258 T147A possibly damaging Het
Agbl3 A G 6: 34,799,750 D397G probably damaging Het
Ank1 C T 8: 23,135,638 T1597M possibly damaging Het
Arl4d A G 11: 101,666,929 T94A possibly damaging Het
Cd22 A G 7: 30,876,134 I161T probably damaging Het
Clcn7 C T 17: 25,146,847 L166F probably benign Het
Cnbd1 G T 4: 19,055,095 N110K possibly damaging Het
Col14a1 A T 15: 55,463,769 probably benign Het
Col6a6 C T 9: 105,784,101 V270M probably damaging Het
Cox8b C A 7: 140,899,077 G42W probably damaging Het
Csn1s1 A T 5: 87,680,845 D275V probably benign Het
Cubn T A 2: 13,427,834 probably null Het
Dctn2 T C 10: 127,275,821 probably benign Het
Dnm1l A G 16: 16,342,740 probably benign Het
Dpp4 T C 2: 62,334,644 E687G probably benign Het
Fbxw20 T C 9: 109,223,309 K249E possibly damaging Het
Fhl2 C T 1: 43,128,390 W181* probably null Het
G2e3 T A 12: 51,369,158 M559K probably benign Het
Gdap1l1 A T 2: 163,447,595 Y160F possibly damaging Het
Gm1110 T C 9: 26,881,763 I572M probably benign Het
Gm5538 G A 3: 59,743,605 M49I probably benign Het
Gpatch2l T A 12: 86,256,937 probably benign Het
Kcnq4 A G 4: 120,715,854 L250P probably damaging Het
Lamc2 A T 1: 153,166,216 N57K probably benign Het
Lingo1 A G 9: 56,620,081 L408P probably damaging Het
Mmrn1 A T 6: 60,977,147 N804I possibly damaging Het
Mroh7 A G 4: 106,707,782 L545S probably damaging Het
Nup188 T A 2: 30,323,636 probably null Het
Olfr1442 T C 19: 12,674,238 I11T probably damaging Het
Olfr1494 A G 19: 13,749,934 D276G probably benign Het
Olfr96 A G 17: 37,225,326 N67S probably damaging Het
Pls1 A T 9: 95,784,183 N138K probably benign Het
Prkch C A 12: 73,702,512 N345K probably benign Het
Reps1 T C 10: 18,056,117 probably null Het
Rrp7a T C 15: 83,122,691 E15G probably benign Het
Scn1a T A 2: 66,277,661 T1557S possibly damaging Het
Smtn T C 11: 3,526,215 E602G probably damaging Het
Syvn1 T C 19: 6,050,093 probably null Het
Tbxas1 A G 6: 39,023,080 D267G probably damaging Het
Topbp1 A G 9: 103,328,523 N787D probably damaging Het
Vmn2r22 T G 6: 123,638,092 S180R probably damaging Het
Zfp345 T A 2: 150,474,543 E48D possibly damaging Het
Zfp608 G A 18: 54,897,437 Q1144* probably null Het
Zfp936 T A 7: 43,187,267 L34Q probably damaging Het
Other mutations in A4gnt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:A4gnt APN 9 99620436 nonsense probably null
IGL01509:A4gnt APN 9 99613766 missense probably benign 0.01
IGL03339:A4gnt APN 9 99620548 missense probably damaging 1.00
PIT4466001:A4gnt UTSW 9 99620560 missense probably damaging 0.99
PIT4472001:A4gnt UTSW 9 99620560 missense probably damaging 0.99
R2027:A4gnt UTSW 9 99620201 missense possibly damaging 0.50
R2061:A4gnt UTSW 9 99620359 missense probably damaging 1.00
R4130:A4gnt UTSW 9 99620618 missense possibly damaging 0.81
R4131:A4gnt UTSW 9 99620618 missense possibly damaging 0.81
R5249:A4gnt UTSW 9 99620231 missense probably damaging 0.99
R5338:A4gnt UTSW 9 99620544 missense probably damaging 1.00
R5672:A4gnt UTSW 9 99620330 missense possibly damaging 0.95
R5785:A4gnt UTSW 9 99620672 missense probably damaging 1.00
R6519:A4gnt UTSW 9 99613670 missense probably damaging 1.00
R6630:A4gnt UTSW 9 99613918 missense probably benign 0.00
R7296:A4gnt UTSW 9 99620282 missense probably damaging 0.97
R7514:A4gnt UTSW 9 99620545 missense probably benign 0.05
R7731:A4gnt UTSW 9 99620417 missense possibly damaging 0.63
Z1088:A4gnt UTSW 9 99613841 missense probably damaging 0.97
Posted On2015-04-16