Incidental Mutation 'IGL00950:Gcnt4'
ID28877
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcnt4
Ensembl Gene ENSMUSG00000091387
Gene Nameglucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)
SynonymsLOC218476, LOC238786, Gm73, C2GNT3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.127) question?
Stock #IGL00950
Quality Score
Status
Chromosome13
Chromosomal Location96924689-96950906 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 96946556 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 120 (Y120C)
Ref Sequence ENSEMBL: ENSMUSP00000130496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171324]
Predicted Effect probably damaging
Transcript: ENSMUST00000171324
AA Change: Y120C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130496
Gene: ENSMUSG00000091387
AA Change: Y120C

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 T C 7: 67,120,912 V923A possibly damaging Het
Als2 G A 1: 59,215,382 A272V probably benign Het
Chrne C T 11: 70,619,157 probably benign Het
D430042O09Rik T A 7: 125,843,221 D767E probably benign Het
Dhx34 C T 7: 16,199,826 R947H probably damaging Het
Dnah7b A T 1: 46,214,322 M1796L probably benign Het
Doxl2 A C 6: 48,978,131 N635T possibly damaging Het
Dstyk C T 1: 132,459,988 T820I probably damaging Het
Eif4g1 A G 16: 20,683,628 K942E probably damaging Het
Fbn1 C T 2: 125,358,823 G1318E probably damaging Het
Galnt5 T C 2: 57,999,132 V248A probably benign Het
Gdf5 A G 2: 155,941,706 V442A probably damaging Het
H2-Q4 A C 17: 35,382,858 D232A probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Htt A G 5: 34,891,441 I2423V probably benign Het
Itk T A 11: 46,367,896 I60F probably damaging Het
Izumo1 T A 7: 45,622,871 C25* probably null Het
Lamc1 G T 1: 153,240,495 P980H probably damaging Het
Ncor2 C A 5: 125,086,890 R367L unknown Het
Pcdhb17 A T 18: 37,486,006 probably null Het
Rnf123 C A 9: 108,067,395 probably null Het
Sh3bgrl2 T A 9: 83,577,490 F34I probably damaging Het
Sharpin T C 15: 76,348,224 E171G probably damaging Het
Slc22a30 A T 19: 8,335,788 D544E probably benign Het
Slc36a1 T C 11: 55,226,128 C328R probably damaging Het
Sntg2 T C 12: 30,312,681 probably benign Het
Sox13 A G 1: 133,387,106 V272A probably benign Het
Sppl2b T G 10: 80,864,094 L37R probably damaging Het
Strip1 T A 3: 107,621,445 S390C probably damaging Het
Stxbp5 T A 10: 9,808,602 probably benign Het
Supt16 T C 14: 52,161,798 E1008G possibly damaging Het
Vmn1r174 C A 7: 23,754,486 H192Q possibly damaging Het
Vsir C T 10: 60,364,284 Q154* probably null Het
Xrn2 A T 2: 147,028,146 R252* probably null Het
Other mutations in Gcnt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5853:Gcnt4 UTSW 13 96946652 missense probably benign 0.01
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
Posted On2013-04-17