Incidental Mutation 'IGL02439:Eogt'
ID293393
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: 0.185) question?
Stock #IGL02439
Quality Score
Status
Chromosome6
Chromosomal Location97110024-97149182 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 97143973 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 93 (G93D)
Ref Sequence ENSEMBL: ENSMUSP00000117541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054344] [ENSMUST00000113387] [ENSMUST00000136575] [ENSMUST00000142116] [ENSMUST00000142553] [ENSMUST00000204331]
Predicted Effect probably benign
Transcript: ENSMUST00000054344
AA Change: G93D

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245
AA Change: G93D

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: ENSMUST00000135187
Predicted Effect possibly damaging
Transcript: ENSMUST00000136575
AA Change: G93D

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117541
Gene: ENSMUSG00000035245
AA Change: G93D

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142116
Predicted Effect probably benign
Transcript: ENSMUST00000142553
SMART Domains Protein: ENSMUSP00000115101
Gene: ENSMUSG00000035245

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203184
Predicted Effect probably benign
Transcript: ENSMUST00000204331
SMART Domains Protein: ENSMUSP00000145303
Gene: ENSMUSG00000035245

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik A T 14: 4,348,890 Y17F probably benign Het
Ablim2 A C 5: 35,857,862 T507P possibly damaging Het
Arhgef28 T C 13: 97,931,139 Y1426C possibly damaging Het
Armc4 T A 18: 7,268,444 R358S probably benign Het
Cftr T A 6: 18,258,238 Y592* probably null Het
Exosc9 A G 3: 36,553,031 probably benign Het
Frem1 T C 4: 82,956,345 I1329V probably benign Het
Gal3st1 T C 11: 3,998,110 F106L possibly damaging Het
Gulp1 A T 1: 44,781,004 I216F probably damaging Het
Ints13 A T 6: 146,554,223 probably benign Het
Kars G A 8: 111,997,636 T453I probably benign Het
Kif14 A G 1: 136,490,261 D844G probably damaging Het
Lgals3bp A T 11: 118,398,220 C93S probably damaging Het
Lst1 T C 17: 35,186,982 I32V probably benign Het
Malsu1 T A 6: 49,075,187 Y114N probably damaging Het
Ndufa5 A T 6: 24,519,202 V41E probably damaging Het
Nme6 C A 9: 109,841,931 P80T probably damaging Het
Olfr202 A G 16: 59,284,455 L14P probably damaging Het
Padi4 T C 4: 140,746,221 D635G probably damaging Het
Pcf11 C T 7: 92,661,841 S313N possibly damaging Het
Pdik1l T C 4: 134,278,704 H309R probably benign Het
Pdk2 A T 11: 95,039,497 probably benign Het
Pprc1 A G 19: 46,072,319 S1606G possibly damaging Het
Ptch1 A G 13: 63,545,096 I230T probably damaging Het
Scn10a C T 9: 119,618,848 R1381Q probably benign Het
Sestd1 T C 2: 77,196,830 K479E possibly damaging Het
Sez6l2 C T 7: 126,968,189 S892L probably damaging Het
Slc39a9 G T 12: 80,666,576 A83S probably benign Het
Slc6a6 A G 6: 91,749,827 Y483C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tas2r131 A G 6: 132,957,769 S26P probably damaging Het
Timd2 A G 11: 46,678,236 probably benign Het
Tmem126a T C 7: 90,455,433 E27G probably damaging Het
Tns2 G A 15: 102,114,543 G1256E probably damaging Het
Trpv6 T A 6: 41,625,487 I322F probably damaging Het
Tshr G A 12: 91,537,547 V420M probably damaging Het
Ttn C A 2: 76,766,087 A20161S probably damaging Het
Vmn2r66 A T 7: 85,005,247 probably benign Het
Zfp438 T A 18: 5,213,216 S581C probably damaging Het
Other mutations in Eogt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Eogt APN 6 97120000 missense probably damaging 0.97
IGL01292:Eogt APN 6 97144027 missense possibly damaging 0.88
IGL02332:Eogt APN 6 97125605 missense probably damaging 1.00
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
R7851:Eogt UTSW 6 97120201 missense probably benign 0.01
R7934:Eogt UTSW 6 97120201 missense probably benign 0.01
R8021:Eogt UTSW 6 97134330 missense not run
Posted On2015-04-16