Incidental Mutation 'R5672:A4gnt'
ID 442681
Institutional Source Beutler Lab
Gene Symbol A4gnt
Ensembl Gene ENSMUSG00000037953
Gene Name alpha-1,4-N-acetylglucosaminyltransferase
Synonyms alpha4GnT, LOC333424
MMRRC Submission 043174-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R5672 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 99494555-99504420 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99502383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 181 (N181S)
Ref Sequence ENSEMBL: ENSMUSP00000045629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042553]
AlphaFold Q14BT6
Predicted Effect possibly damaging
Transcript: ENSMUST00000042553
AA Change: N181S

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000045629
Gene: ENSMUSG00000037953
AA Change: N181S

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: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A T 16: 20,368,002 (GRCm39) Q74L probably benign Het
Ankrd13c T C 3: 157,666,664 (GRCm39) probably null Het
Bub1 A G 2: 127,646,800 (GRCm39) F827L possibly damaging Het
Cfap68 T C 9: 50,675,227 (GRCm39) T67A probably benign Het
Cyp2c55 A G 19: 39,023,990 (GRCm39) I355V probably benign Het
Dido1 A G 2: 180,313,696 (GRCm39) S319P probably damaging Het
Efna5 A T 17: 63,188,025 (GRCm39) V34D probably damaging Het
Fam131a G T 16: 20,518,389 (GRCm39) E88D probably damaging Het
Fsip2 A T 2: 82,817,838 (GRCm39) R4524* probably null Het
Gm6899 C T 11: 26,543,484 (GRCm39) probably benign Het
Iqcg C T 16: 32,839,878 (GRCm39) R356Q probably damaging Het
Itgae T A 11: 73,036,377 (GRCm39) I1105N possibly damaging Het
Klb T C 5: 65,537,292 (GRCm39) I874T possibly damaging Het
Klc3 T C 7: 19,130,256 (GRCm39) Y307C probably damaging Het
Lrp1b T A 2: 41,231,771 (GRCm39) H378L probably benign Het
Mxd4 G A 5: 34,335,044 (GRCm39) R114C probably damaging Het
Nrdc A T 4: 108,895,242 (GRCm39) R241* probably null Het
Ofcc1 G A 13: 40,433,905 (GRCm39) H67Y probably damaging Het
Or10ak9 A G 4: 118,726,379 (GRCm39) T134A possibly damaging Het
Or5p5 A G 7: 107,413,844 (GRCm39) T18A probably damaging Het
Or7e165 T A 9: 19,694,507 (GRCm39) I26N possibly damaging Het
Pard3b G T 1: 62,049,625 (GRCm39) A128S probably benign Het
Plat T C 8: 23,263,664 (GRCm39) Y188H probably benign Het
Pop1 A G 15: 34,530,325 (GRCm39) K908E possibly damaging Het
Pten A G 19: 32,735,866 (GRCm39) I8V probably benign Het
Pwwp2a C T 11: 43,596,968 (GRCm39) A436V probably damaging Het
Rnf145 G A 11: 44,422,120 (GRCm39) V68M possibly damaging Het
Sdk1 T C 5: 142,173,900 (GRCm39) C2023R possibly damaging Het
Serpina1d A C 12: 103,730,101 (GRCm39) D360E possibly damaging Het
Serpinb9b A G 13: 33,223,582 (GRCm39) D258G probably benign Het
Smgc G A 15: 91,726,108 (GRCm39) S18N possibly damaging Het
Snx27 A T 3: 94,410,157 (GRCm39) probably null Het
Spem1 T G 11: 69,712,263 (GRCm39) K134Q probably damaging Het
Srgap3 T A 6: 112,752,522 (GRCm39) M321L probably benign Het
Tanc1 T C 2: 59,602,697 (GRCm39) C163R possibly damaging Het
Ube2ql1 A T 13: 69,887,446 (GRCm39) L5H unknown Het
Ubn2 T C 6: 38,438,462 (GRCm39) I225T probably damaging Het
Vmn1r181 A C 7: 23,683,741 (GRCm39) T69P probably damaging Het
Vmn2r110 A G 17: 20,816,494 (GRCm39) F10L probably benign Het
Yeats2 T C 16: 19,980,779 (GRCm39) M236T probably 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
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
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
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'- ACCCTTCATGCTTGGAGACC -3'
(R):5'- TCCACTGTGGATAAGGGATGGG -3'

Sequencing Primer
(F):5'- CATGCTTGGAGACCCATTTG -3'
(R):5'- TTCAGGTCACCCAACCCGTG -3'
Posted On 2016-11-09