Incidental Mutation 'R4130:A4gnt'
ID 315509
Institutional Source Beutler Lab
Gene Symbol A4gnt
Ensembl Gene ENSMUSG00000037953
Gene Name alpha-1,4-N-acetylglucosaminyltransferase
Synonyms alpha4GnT, LOC333424
MMRRC Submission 041636-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R4130 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 99494555-99504420 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99502671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 277 (D277G)
Ref Sequence ENSEMBL: ENSMUSP00000045629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042553]
AlphaFold Q14BT6
Predicted Effect possibly damaging
Transcript: ENSMUST00000042553
AA Change: D277G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045629
Gene: ENSMUSG00000037953
AA Change: D277G

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
Meta Mutation Damage Score 0.1902 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (29/29)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021A07Rik T C 10: 21,301,441 (GRCm39) noncoding transcript Het
Adam12 C T 7: 133,514,653 (GRCm39) V345I probably damaging Het
Ankrd29 G A 18: 12,387,757 (GRCm39) A275V possibly damaging Het
Arpp21 T A 9: 111,984,376 (GRCm39) probably benign Het
Bbx T C 16: 50,045,221 (GRCm39) K447E probably damaging Het
Bcar1 A G 8: 112,440,797 (GRCm39) L399P possibly damaging Het
Cytl1 T C 5: 37,892,985 (GRCm39) S32P probably damaging Het
Eif4e1b C T 13: 54,935,130 (GRCm39) T219M probably benign Het
F10 A G 8: 13,105,584 (GRCm39) D383G possibly damaging Het
Gm37267 T G 1: 180,336,643 (GRCm39) noncoding transcript Het
Golga2 G A 2: 32,178,178 (GRCm39) R29H probably benign Het
Gpd1 A T 15: 99,617,158 (GRCm39) probably null Het
Lrrk2 G A 15: 91,639,997 (GRCm39) R1514Q probably benign Het
Map1b T C 13: 99,568,188 (GRCm39) E1511G unknown Het
Nup35 G A 2: 80,486,443 (GRCm39) probably benign Het
Or13n4 C T 7: 106,422,792 (GRCm39) G314S probably benign Het
Pdzd9 A T 7: 120,262,092 (GRCm39) D123E possibly damaging Het
Pramel29 T A 4: 143,935,379 (GRCm39) I121F probably damaging Het
Rab3gap2 A G 1: 184,936,494 (GRCm39) D19G possibly damaging Het
Rnf213 T C 11: 119,373,832 (GRCm39) S4972P probably damaging Het
Skap1 A G 11: 96,416,871 (GRCm39) Y52C probably damaging Het
Sphkap T C 1: 83,255,619 (GRCm39) N710S probably damaging Het
Tedc1 T A 12: 113,126,828 (GRCm39) D363E probably benign Het
Vmn2r44 T A 7: 8,370,918 (GRCm39) Q709H probably damaging Het
Wdr5 G T 2: 27,410,441 (GRCm39) probably benign 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
IGL03339:A4gnt APN 9 99,502,601 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGGAGAACTTTGTAGAGCACTATG -3'
(R):5'- TCTCTACCTGGAACCTGTGC -3'

Sequencing Primer
(F):5'- GCACTATGACTCAACCATTTGGGG -3'
(R):5'- GCCTGGCTTCTTGGACACTG -3'
Posted On 2015-05-14