Incidental Mutation 'IGL00911:Eogt'
ID27599
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eogt
Ensembl Gene ENSMUSG00000035245
Gene NameEGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
SynonymsA130022J15Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.228) question?
Stock #IGL00911
Quality Score
Status
Chromosome6
Chromosomal Location97110024-97149182 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 97120000 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 349 (V349E)
Ref Sequence ENSEMBL: ENSMUSP00000061610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054344] [ENSMUST00000113387]
Predicted Effect probably damaging
Transcript: ENSMUST00000054344
AA Change: V349E

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245
AA Change: V349E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:DUF563 245 472 1.3e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113387
SMART Domains Protein: ENSMUSP00000109014
Gene: ENSMUSG00000035245

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130562
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135187
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N-acetylglucosamine to serine or threonine residues of extracellular-targeted proteins. This enzyme modifies proteins containing eukaryotic growth factor (EGF)-like domains, including the Notch receptor, thereby regulating developmental signalling. Mutations in this gene have been observed in individuals with Adams-Oliver syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm T C 5: 90,525,591 V234A probably benign Het
Alas1 T A 9: 106,236,472 I525F probably benign Het
Ambra1 T A 2: 91,767,682 probably benign Het
Apbb2 G A 5: 66,451,512 T264M probably damaging Het
Arhgap40 A G 2: 158,534,716 probably benign Het
Chd9 C T 8: 91,051,692 P2793L probably damaging Het
Clstn1 T G 4: 149,643,191 probably benign Het
Cyp2f2 T C 7: 27,121,929 V13A probably damaging Het
Dnah1 C T 14: 31,304,434 probably null Het
Epb41 T C 4: 131,989,784 D353G possibly damaging Het
Fam172a T A 13: 77,951,975 probably benign Het
Fbxo38 T A 18: 62,530,800 I207F possibly damaging Het
Frem2 T C 3: 53,572,462 S1937G probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kcnh3 G T 15: 99,233,001 G500* probably null Het
Khdc1b A T 1: 21,384,354 K94* probably null Het
Lpcat2 T C 8: 92,890,710 Y367H probably damaging Het
Lrrd1 A C 5: 3,865,689 N762T probably benign Het
Mbl2 T A 19: 30,238,394 D100E possibly damaging Het
Mthfr T G 4: 148,041,302 S31A probably benign Het
Nrp1 T A 8: 128,476,207 S558T probably benign Het
Nrxn3 T C 12: 90,204,592 L1254P probably damaging Het
Olfr693 A T 7: 106,677,833 Y218N probably damaging Het
Pabpc1l C A 2: 164,042,423 T360K probably damaging Het
Pcgf1 G A 6: 83,080,625 G92S probably damaging Het
Penk T C 4: 4,134,347 Y100C probably damaging Het
Pik3r1 T C 13: 101,757,661 probably benign Het
Pkhd1 T A 1: 20,117,747 T3446S probably benign Het
Plcg2 G A 8: 117,586,515 D473N probably benign Het
Poll G T 19: 45,553,601 T422K probably damaging Het
Skint3 T A 4: 112,255,909 probably benign Het
Stab2 C A 10: 86,969,753 C243F probably damaging Het
Supt6 T C 11: 78,231,181 E215G possibly damaging Het
Tas1r2 C A 4: 139,660,291 P354T probably benign Het
Tenm2 G A 11: 36,008,733 Q2533* probably null Het
Tmem121 C T 12: 113,188,231 A23V probably damaging Het
Other mutations in Eogt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01292:Eogt APN 6 97144027 missense possibly damaging 0.88
IGL02332:Eogt APN 6 97125605 missense probably damaging 1.00
IGL02439:Eogt APN 6 97143973 missense possibly damaging 0.83
R0019:Eogt UTSW 6 97134273 unclassified probably benign
R0112:Eogt UTSW 6 97135284 splice site probably benign
R0325:Eogt UTSW 6 97113955 missense probably damaging 0.99
R0497:Eogt UTSW 6 97135233 missense probably benign 0.00
R0730:Eogt UTSW 6 97116009 nonsense probably null
R1730:Eogt UTSW 6 97113864 missense probably damaging 1.00
R1783:Eogt UTSW 6 97113864 missense probably damaging 1.00
R2074:Eogt UTSW 6 97131376 missense probably benign 0.02
R2279:Eogt UTSW 6 97134301 missense probably benign 0.28
R2679:Eogt UTSW 6 97120800 missense probably benign 0.01
R2993:Eogt UTSW 6 97118954 splice site probably null
R3176:Eogt UTSW 6 97131394 missense probably benign 0.21
R3276:Eogt UTSW 6 97131394 missense probably benign 0.21
R3876:Eogt UTSW 6 97120190 missense probably damaging 0.99
R3940:Eogt UTSW 6 97113914 missense probably damaging 1.00
R4613:Eogt UTSW 6 97134304 missense probably benign 0.00
R4704:Eogt UTSW 6 97113852 missense probably damaging 0.99
R4849:Eogt UTSW 6 97116055 missense probably damaging 0.99
R4867:Eogt UTSW 6 97120147 intron probably benign
R4905:Eogt UTSW 6 97142831 missense probably benign 0.01
R5120:Eogt UTSW 6 97134315 missense probably benign
R5143:Eogt UTSW 6 97125584 missense probably damaging 1.00
R5594:Eogt UTSW 6 97116035 missense probably benign 0.01
R6351:Eogt UTSW 6 97120194 missense probably damaging 1.00
R6418:Eogt UTSW 6 97145392 missense possibly damaging 0.77
R6498:Eogt UTSW 6 97135213 missense probably damaging 1.00
R6950:Eogt UTSW 6 97134382 missense possibly damaging 0.77
R7114:Eogt UTSW 6 97116004 missense probably damaging 1.00
R7185:Eogt UTSW 6 97120178 missense probably damaging 1.00
R7221:Eogt UTSW 6 97112724 missense probably damaging 1.00
R7232:Eogt UTSW 6 97119983 missense probably damaging 0.98
R7467:Eogt UTSW 6 97142833 missense probably benign 0.01
R7526:Eogt UTSW 6 97113952 missense probably damaging 1.00
R7672:Eogt UTSW 6 97113909 missense probably damaging 1.00
Posted On2013-04-17