Incidental Mutation 'R9786:A4gnt'
ID 734342
Institutional Source Beutler Lab
Gene Symbol A4gnt
Ensembl Gene ENSMUSG00000037953
Gene Name alpha-1,4-N-acetylglucosaminyltransferase
Synonyms alpha4GnT, LOC333424
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R9786 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 99612502-99622367 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99620483 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 232 (M232K)
Ref Sequence ENSEMBL: ENSMUSP00000045629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042553]
AlphaFold Q14BT6
Predicted Effect possibly damaging
Transcript: ENSMUST00000042553
AA Change: M232K

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000045629
Gene: ENSMUSG00000037953
AA Change: M232K

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
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.2%
  • 20x: 97.9%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700014D04Rik C T 13: 59,742,684 D441N possibly damaging Het
Abcc1 T C 16: 14,405,063 S243P probably damaging Het
Acsl1 T C 8: 46,521,449 Y320H probably damaging Het
Adam11 A G 11: 102,762,264 S61G probably benign Het
Adamts1 G A 16: 85,795,414 T965I probably benign Het
Adcyap1r1 T A 6: 55,479,197 M190K probably damaging Het
Ankrd2 T A 19: 42,044,919 L300Q Het
Ankrd27 A T 7: 35,591,869 Q30L possibly damaging Het
Atp8b5 T A 4: 43,305,798 I114K probably damaging Het
Atrn A T 2: 130,944,889 I205F probably damaging Het
BC035947 A G 1: 78,511,924 probably benign Het
Boc C T 16: 44,491,329 R677H Het
D3Ertd254e T A 3: 36,165,704 C625* probably null Het
Dpysl3 G T 18: 43,329,857 T485K probably damaging Het
Esyt3 T C 9: 99,311,985 D867G possibly damaging Het
Fam178b G A 1: 36,564,436 T478I probably damaging Het
Fam26f A G 10: 34,127,647 F88S probably benign Het
Foxd2 G T 4: 114,907,653 T390K possibly damaging Het
Furin A G 7: 80,390,897 V731A probably benign Het
Gm6583 T A 5: 112,355,073 E255V probably benign Het
Grin2a T A 16: 9,653,602 I601F possibly damaging Het
Hat1 G A 2: 71,420,615 R169Q possibly damaging Het
Ighe G C 12: 113,273,231 Q6E Het
Ighv8-2 T C 12: 114,462,559 I31V probably benign Het
Klk1 A G 7: 44,228,680 D120G probably damaging Het
Kmt2e A G 5: 23,497,984 D1054G probably benign Het
Lamp5 A T 2: 136,069,078 I244F probably damaging Het
Mcm5 C T 8: 75,117,540 S313F probably benign Het
Mfsd4b1 T C 10: 40,002,869 E344G probably damaging Het
Mns1 A G 9: 72,439,274 K13R probably benign Het
Mrpl43 C T 19: 45,005,907 S91N probably benign Het
Mtbp T C 15: 55,617,636 S706P probably benign Het
Nelfb A T 2: 25,205,133 V348D probably damaging Het
Olfr1049 G A 2: 86,255,084 S203L probably benign Het
Olfr281 T C 15: 98,456,832 I174T possibly damaging Het
Olfr355 T A 2: 36,927,404 K237* probably null Het
Olfr497 A T 7: 108,422,717 I49F probably benign Het
Olfr835 C T 9: 19,035,945 A274V possibly damaging Het
Pde6c T C 19: 38,151,561 I324T possibly damaging Het
Phlpp2 T A 8: 109,934,023 L770* probably null Het
Pik3c2b T A 1: 133,091,600 F1029I possibly damaging Het
Rfx2 A T 17: 56,780,890 S500R probably benign Het
Sarm1 T C 11: 78,474,917 M761V probably benign Het
Serpina1a A G 12: 103,855,881 L264P possibly damaging Het
Slc37a1 G T 17: 31,337,991 G377V probably damaging Het
Slc38a4 T A 15: 97,008,497 M364L probably damaging Het
Slc7a15 A G 12: 8,530,280 F384S probably benign Het
Smyd4 T C 11: 75,390,799 V366A probably benign Het
Spata31d1b T A 13: 59,718,341 V1101D possibly damaging Het
Stab2 C A 10: 86,922,133 M1090I probably benign Het
Tex15 C T 8: 33,572,429 T903I probably damaging Het
Tgds A T 14: 118,130,637 Y41* probably null Het
Tle4 G T 19: 14,517,940 H142N probably benign Het
Tlx2 T C 6: 83,069,293 probably null Het
Tmem151a C G 19: 5,081,841 A446P probably damaging Het
Tmem205 A T 9: 21,921,200 D138E probably damaging Het
Tmem57 A T 4: 134,830,682 Y173* probably null Het
Tmprss9 A G 10: 80,898,208 K1009E unknown Het
Tnk2 T A 16: 32,680,057 C729* probably null Het
Trim46 T A 3: 89,235,092 D696V probably damaging Het
Tuba3b G A 6: 145,618,756 R84Q probably benign Het
Unc119b C T 5: 115,125,462 D228N probably damaging Het
Usp17la A G 7: 104,861,657 T490A probably benign Het
Zfp687 C T 3: 95,012,457 M1I probably null Het
Zfp729a T C 13: 67,620,509 T534A possibly damaging Het
Zfp985 A T 4: 147,583,590 H305L probably benign Het
Zscan10 C T 17: 23,609,356 Q291* probably null 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
IGL02335:A4gnt APN 9 99620213 missense probably benign
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
R9311:A4gnt UTSW 9 99613763 missense possibly damaging 0.82
Z1088:A4gnt UTSW 9 99613841 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CATCTGGAAGTACGGAGGCATC -3'
(R):5'- TCCACAAATGCAGTGCGTAG -3'

Sequencing Primer
(F):5'- GGCATCTACATGGACACTGACG -3'
(R):5'- AGGACTCATTGAAGCTGGGCTC -3'
Posted On 2022-11-14