Incidental Mutation 'IGL03339:A4gnt'
ID 417144
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: 0.101) question?
Stock # IGL03339
Quality Score
Status
Chromosome 9
Chromosomal Location 99494555-99504420 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99502601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 254 (S254P)
Ref Sequence ENSEMBL: ENSMUSP00000045629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042553]
AlphaFold Q14BT6
Predicted Effect probably damaging
Transcript: ENSMUST00000042553
AA Change: S254P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045629
Gene: ENSMUSG00000037953
AA Change: S254P

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,284,376 (GRCm39) E323G probably damaging Het
Actn4 A G 7: 28,601,407 (GRCm39) L447P probably damaging Het
Agbl2 C A 2: 90,627,907 (GRCm39) S237R probably damaging Het
Apc G A 18: 34,431,527 (GRCm39) D309N probably damaging Het
Arhgef3 A G 14: 27,123,814 (GRCm39) M492V probably damaging Het
Atp10b T A 11: 43,121,442 (GRCm39) M1035K probably null Het
Cfap69 T A 5: 5,636,436 (GRCm39) probably benign Het
Ctf1 A G 7: 127,313,166 (GRCm39) N24S probably benign Het
Cx3cr1 T A 9: 119,880,503 (GRCm39) K300* probably null Het
Ddx25 A T 9: 35,453,299 (GRCm39) Y484N probably damaging Het
Eif4g1 A G 16: 20,499,734 (GRCm39) E506G possibly damaging Het
Ficd G T 5: 113,876,800 (GRCm39) R325L probably benign Het
G6pc2 A G 2: 69,051,239 (GRCm39) probably benign Het
Gm11168 C A 9: 3,004,767 (GRCm39) P103T probably benign Het
Hbb-y A T 7: 103,501,976 (GRCm39) H98Q probably damaging Het
Hmcn1 A G 1: 150,577,720 (GRCm39) S2014P probably benign Het
Hoxc5 T C 15: 102,922,568 (GRCm39) Y19H probably damaging Het
Igfbpl1 A G 4: 45,813,555 (GRCm39) probably benign Het
Ighg2c A C 12: 113,251,614 (GRCm39) V171G unknown Het
Kctd13 A G 7: 126,544,190 (GRCm39) D296G probably benign Het
Mfsd2b A C 12: 4,924,335 (GRCm39) M1R probably null Het
Nipbl A G 15: 8,380,360 (GRCm39) S811P probably benign Het
Or10al2 G A 17: 37,983,448 (GRCm39) C178Y possibly damaging Het
Or10al3 G T 17: 38,011,682 (GRCm39) M40I probably damaging Het
Or52r1 G A 7: 102,536,989 (GRCm39) R124C probably benign Het
Or5b122 T G 19: 13,563,439 (GRCm39) M257R probably damaging Het
Pcolce2 T C 9: 95,560,393 (GRCm39) probably benign Het
Pik3c2a G T 7: 116,017,256 (GRCm39) T167K possibly damaging Het
Ppp1r18 A G 17: 36,178,938 (GRCm39) D271G probably benign Het
Rnf213 T C 11: 119,333,830 (GRCm39) I3013T probably damaging Het
Rock1 A T 18: 10,097,493 (GRCm39) M765K probably benign Het
Sec16a T C 2: 26,325,945 (GRCm39) Y1244C probably benign Het
Taar7d T C 10: 23,903,204 (GRCm39) C29R possibly damaging Het
Tlcd4 C T 3: 121,022,489 (GRCm39) probably benign Het
Ttn A C 2: 76,572,264 (GRCm39) F26210V probably damaging Het
Ube2b A T 11: 51,877,534 (GRCm39) V145D probably damaging Het
Vmn1r219 T G 13: 23,347,580 (GRCm39) S256R possibly damaging Het
Other mutations in A4gnt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:A4gnt APN 9 99,502,489 (GRCm39) nonsense probably null
IGL01509:A4gnt APN 9 99,495,819 (GRCm39) missense probably benign 0.01
IGL02335:A4gnt APN 9 99,502,266 (GRCm39) missense probably benign
PIT4466001:A4gnt UTSW 9 99,502,613 (GRCm39) missense probably damaging 0.99
PIT4472001:A4gnt UTSW 9 99,502,613 (GRCm39) missense probably damaging 0.99
R2027:A4gnt UTSW 9 99,502,254 (GRCm39) missense possibly damaging 0.50
R2061:A4gnt UTSW 9 99,502,412 (GRCm39) missense probably damaging 1.00
R4130:A4gnt UTSW 9 99,502,671 (GRCm39) missense possibly damaging 0.81
R4131:A4gnt UTSW 9 99,502,671 (GRCm39) missense possibly damaging 0.81
R5249:A4gnt UTSW 9 99,502,284 (GRCm39) missense probably damaging 0.99
R5338:A4gnt UTSW 9 99,502,597 (GRCm39) missense probably damaging 1.00
R5672:A4gnt UTSW 9 99,502,383 (GRCm39) missense possibly damaging 0.95
R5785:A4gnt UTSW 9 99,502,725 (GRCm39) missense probably damaging 1.00
R6519:A4gnt UTSW 9 99,495,723 (GRCm39) missense probably damaging 1.00
R6630:A4gnt UTSW 9 99,495,971 (GRCm39) missense probably benign 0.00
R7296:A4gnt UTSW 9 99,502,335 (GRCm39) missense probably damaging 0.97
R7514:A4gnt UTSW 9 99,502,598 (GRCm39) missense probably benign 0.05
R7731:A4gnt UTSW 9 99,502,470 (GRCm39) missense possibly damaging 0.63
R9311:A4gnt UTSW 9 99,495,816 (GRCm39) missense possibly damaging 0.82
R9786:A4gnt UTSW 9 99,502,536 (GRCm39) missense possibly damaging 0.65
Z1088:A4gnt UTSW 9 99,495,894 (GRCm39) missense probably damaging 0.97
Posted On 2016-08-02