Incidental Mutation 'R5853:Gcnt4'
ID454781
Institutional Source Beutler Lab
Gene Symbol Gcnt4
Ensembl Gene ENSMUSG00000091387
Gene Nameglucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)
SynonymsLOC218476, LOC238786, Gm73, C2GNT3
MMRRC Submission 044068-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #R5853 (G1)
Quality Score225
Status Not validated
Chromosome13
Chromosomal Location96924689-96950906 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 96946652 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 152 (R152Q)
Ref Sequence ENSEMBL: ENSMUSP00000130496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171324]
Predicted Effect probably benign
Transcript: ENSMUST00000171324
AA Change: R152Q

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000130496
Gene: ENSMUSG00000091387
AA Change: R152Q

DomainStartEndE-ValueType
transmembrane domain 17 39 N/A INTRINSIC
Pfam:Branch 134 403 1.1e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222094
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele display neutrophilia, increased aggression towards males, reduced serum thyroxine levels, and altered O-glycan structures in the stomach, colon, and small intestine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 G A 7: 120,340,583 V303I probably benign Het
Abca4 G T 3: 122,103,531 V620L probably benign Het
Ankk1 A T 9: 49,418,695 V320E possibly damaging Het
Aoah G T 13: 20,999,902 A379S probably benign Het
Apol7e A G 15: 77,714,467 D44G probably benign Het
Atf2 T C 2: 73,828,469 probably null Het
Cd209b T C 8: 3,926,549 probably null Het
Chek1 G A 9: 36,713,687 S366L probably damaging Het
Chpf2 T C 5: 24,592,192 L712P probably damaging Het
Clmn C A 12: 104,783,902 probably null Het
Cnksr3 T C 10: 7,142,977 D178G probably benign Het
Cpox T C 16: 58,675,417 Y366H probably damaging Het
Dnah3 A G 7: 119,938,833 F3632S probably damaging Het
Eif5b T A 1: 38,037,307 D645E probably damaging Het
Emilin1 G A 5: 30,918,622 E736K probably damaging Het
Il6st T C 13: 112,481,537 S162P probably damaging Het
Iqub T C 6: 24,491,602 K362E probably benign Het
Kif22 G T 7: 127,033,367 P257Q possibly damaging Het
Lhx2 T C 2: 38,369,041 V378A probably damaging Het
Lipo1 A G 19: 33,782,230 V202A probably benign Het
Lrp1b T A 2: 40,663,726 N366I unknown Het
Mbip T C 12: 56,335,877 D268G probably damaging Het
Mc5r A G 18: 68,339,493 M308V probably benign Het
Mndal C A 1: 173,862,504 G420V probably damaging Het
Nbea A T 3: 55,992,401 N1442K probably damaging Het
Ndufv1 A T 19: 4,008,811 probably null Het
Ofcc1 A G 13: 40,206,717 S279P probably benign Het
Olfr1415 T C 1: 92,491,717 I13V probably benign Het
Olfr730 A T 14: 50,186,869 M116K possibly damaging Het
Pabpc1l A T 2: 164,049,518 H552L probably benign Het
Pigr T A 1: 130,846,604 C440* probably null Het
Pramef6 A G 4: 143,896,920 V228A probably benign Het
Prss30 C T 17: 23,972,846 V271I probably damaging Het
Psme4 T A 11: 30,791,234 probably null Het
Qrich1 T A 9: 108,533,608 probably benign Het
Rem1 C G 2: 152,628,280 A62G possibly damaging Het
Rftn1 T C 17: 50,047,326 N58S probably damaging Het
Rp9 G A 9: 22,448,769 probably benign Het
Rrp1b G A 17: 32,056,684 V402I possibly damaging Het
Slc25a33 A T 4: 149,753,892 Y108N probably benign Het
Slc3a1 A G 17: 85,032,580 M189V probably damaging Het
Slc44a1 A C 4: 53,528,682 K144T probably benign Het
Tbc1d13 T A 2: 30,137,381 H100Q probably damaging Het
Timm29 T C 9: 21,593,453 V139A probably damaging Het
Tmem70 T C 1: 16,665,332 W9R possibly damaging Het
Tspan1 A G 4: 116,163,305 probably null Het
Unc13a T C 8: 71,655,129 probably null Het
Uroc1 T C 6: 90,346,756 F395S probably damaging Het
Uvrag A C 7: 98,888,077 L637R possibly damaging Het
Vmn1r213 T G 13: 23,011,514 L3W probably benign Het
Zfp280d C T 9: 72,330,942 T528I probably benign Het
Zfp526 C T 7: 25,225,176 Q287* probably null Het
Other mutations in Gcnt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Gcnt4 APN 13 96946556 missense probably damaging 1.00
IGL02677:Gcnt4 APN 13 96947233 missense probably benign
IGL02936:Gcnt4 APN 13 96946411 missense probably benign 0.00
R0332:Gcnt4 UTSW 13 96946510 missense probably benign 0.01
R0741:Gcnt4 UTSW 13 96946432 nonsense probably null
R0853:Gcnt4 UTSW 13 96946835 missense probably damaging 1.00
R2156:Gcnt4 UTSW 13 96946466 missense probably damaging 0.99
R3837:Gcnt4 UTSW 13 96947014 nonsense probably null
R3838:Gcnt4 UTSW 13 96947014 nonsense probably null
R3839:Gcnt4 UTSW 13 96947014 nonsense probably null
R4434:Gcnt4 UTSW 13 96946342 missense probably benign 0.00
R4611:Gcnt4 UTSW 13 96946482 missense probably benign
R4782:Gcnt4 UTSW 13 96947406 missense possibly damaging 0.88
R6013:Gcnt4 UTSW 13 96947278 missense possibly damaging 0.95
R6139:Gcnt4 UTSW 13 96946852 missense probably benign 0.16
R6329:Gcnt4 UTSW 13 96947273 missense probably damaging 1.00
R7131:Gcnt4 UTSW 13 96946519 missense probably damaging 0.98
R7217:Gcnt4 UTSW 13 96946310 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ACGGAGCATCATCGACTTGG -3'
(R):5'- AGGTTGATGACGTACTTCCACTG -3'

Sequencing Primer
(F):5'- GCATCATCGACTTGGAGGAC -3'
(R):5'- GTCTGATAAGCAGTTCCAATCGGC -3'
Posted On2017-02-10