Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01292:Eogt'

72957

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eogt

Ensembl Gene

ENSMUSG00000035245

Gene Name

EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase

Synonyms

A130022J15Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

IGL01292

Quality Score

Status

Chromosome

Chromosomal Location

97110024-97149182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97144027 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 75 (N75I)

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: N75I

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245
AA Change: N75I

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135187

Predicted Effect

possibly damaging
Transcript: ENSMUST00000136575
AA Change: N75I

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117541
Gene: ENSMUSG00000035245
AA Change: N75I

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142116

Predicted Effect

probably benign
Transcript: ENSMUST00000142553
AA Change: N75I

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000115101
Gene: ENSMUSG00000035245
AA Change: N75I

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,660,874	S1045G	probably benign	Het
Aak1	T	C	6: 86,949,538		probably benign	Het
Car15	A	G	16: 17,835,529	F258S	probably damaging	Het
Cpd	A	G	11: 76,846,245	I241T	possibly damaging	Het
Dchs1	T	C	7: 105,760,891	D1758G	probably damaging	Het
Eps8l1	T	C	7: 4,478,920		probably benign	Het
Gdpd4	T	C	7: 98,014,954		probably benign	Het
Igbp1b	C	T	6: 138,657,535	E304K	probably benign	Het
Ighv1-63	A	G	12: 115,495,858	S40P	probably damaging	Het
Intu	T	C	3: 40,664,266	V234A	probably benign	Het
Lrrc6	A	T	15: 66,481,233		probably benign	Het
Mars	A	T	10: 127,305,518	I334N	probably damaging	Het
Morc2a	C	A	11: 3,688,175	A967D	probably damaging	Het
Mtrf1l	A	T	10: 5,814,090	M291K	probably benign	Het
Muc19	A	G	15: 91,894,276		noncoding transcript	Het
Myl3	A	T	9: 110,767,977	D135V	probably damaging	Het
Myt1	T	A	2: 181,805,012	L537M	probably damaging	Het
Ndst4	A	G	3: 125,438,754	D324G	probably damaging	Het
Plce1	T	A	19: 38,651,785		probably benign	Het
Prkab1	A	T	5: 116,024,110	F47Y	probably damaging	Het
Prkag2	C	T	5: 25,021,965	S98N	probably benign	Het
Rasgef1a	T	A	6: 118,080,383	V15D	possibly damaging	Het
Scgb1b19	T	A	7: 33,287,626	C67*	probably null	Het
Slc25a15	T	C	8: 22,390,036	D31G	possibly damaging	Het
Slc4a11	C	T	2: 130,690,832		probably null	Het
Snx15	A	T	19: 6,119,885	M331K	probably benign	Het
Tsks	T	C	7: 44,952,558	Y224H	probably damaging	Het
Ufd1	T	C	16: 18,821,114	S123P	probably damaging	Het
Xpnpep3	T	G	15: 81,427,498	V135G	probably damaging	Het

Other mutations in Eogt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Eogt	APN	6	97120000	missense	probably damaging	0.97
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 On

2013-10-07