Mutagenetix > Incidental Mutations

Incidental Mutation 'R8508:Eogt'

655696

Institutional Source

Beutler Lab

Gene Symbol

Eogt

Ensembl Gene

ENSMUSG00000035245

Gene Name

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

Synonyms

A130022J15Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

R8508 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97110024-97149182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97143998 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 85 (S85P)

Ref Sequence

ENSEMBL: ENSMUSP00000061610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054344] [ENSMUST00000113387] [ENSMUST00000136575] [ENSMUST00000142116] [ENSMUST00000142553] [ENSMUST00000204331]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054344
AA Change: S85P

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245
AA Change: S85P

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

possibly damaging
Transcript: ENSMUST00000136575
AA Change: S85P

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117541
Gene: ENSMUSG00000035245
AA Change: S85P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142116

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142553
AA Change: S85P

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115101
Gene: ENSMUSG00000035245
AA Change: S85P

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

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	G	13: 59,743,598	L136P	probably benign	Het
4932438H23Rik	T	G	16: 91,055,612	Y212S	probably damaging	Het
Angpt1	T	C	15: 42,512,399	N154D	probably damaging	Het
Angpt2	G	A	8: 18,741,119	R54*	probably null	Het
Ankrd27	T	A	7: 35,601,626	L117*	probably null	Het
Arhgap21	C	T	2: 20,854,180	M1234I	probably benign	Het
Arhgef33	A	G	17: 80,367,335	E387G	probably damaging	Het
Atp13a4	T	A	16: 29,454,769	K444*	probably null	Het
Atp6v1a	G	A	16: 44,101,862	R338C	probably damaging	Het
Canx	T	C	11: 50,311,647	D44G	possibly damaging	Het
Ccdc141	T	A	2: 77,132,244	M119L	probably benign	Het
Ckmt1	A	C	2: 121,362,691	Q299P	possibly damaging	Het
Dhx16	T	C	17: 35,885,920	S601P	probably damaging	Het
Dna2	A	C	10: 62,950,894	R140S	probably damaging	Het
Dock1	A	G	7: 134,782,409	T670A	probably benign	Het
Fbf1	A	T	11: 116,165,881	M1K	probably null	Het
Fbxl12	C	A	9: 20,638,864	R165L	possibly damaging	Het
Flnb	G	A	14: 7,950,394	V2571I	probably damaging	Het
Gm11361	A	G	13: 28,257,711	I26V	probably benign	Het
Gm43518	A	G	5: 123,938,259	E123G	unknown	Het
Gm8332	T	G	12: 88,249,685	E139A	unknown	Het
Gpatch2	A	G	1: 187,304,355	N374S	probably benign	Het
Hey1	G	C	3: 8,664,776	A207G	probably benign	Het
Hoxa11	T	C	6: 52,245,802		probably benign	Het
Hydin	G	A	8: 110,582,018	V3979I	probably benign	Het
Ighe	C	T	12: 113,271,793	W277*	probably null	Het
Kmt2c	G	T	5: 25,314,122	T2330K	probably benign	Het
Krt6a	T	A	15: 101,692,735	K261M	probably damaging	Het
Lats2	A	C	14: 57,722,705	S161A	probably benign	Het
Med13l	T	A	5: 118,754,321	D1936E	probably benign	Het
Mipol1	T	C	12: 57,306,088	V71A	possibly damaging	Het
Mphosph8	A	T	14: 56,676,546	K415*	probably null	Het
Npepps	A	G	11: 97,244,426		probably null	Het
Ntn4	A	T	10: 93,741,104	N545Y	possibly damaging	Het
Olfr1501	A	T	19: 13,838,402	M257K	possibly damaging	Het
Olfr164	T	C	16: 19,286,701	D14G	probably benign	Het
Olfr353	A	G	2: 36,890,354	S165P	probably damaging	Het
Olfr738	A	C	14: 50,413,675	M44L	probably benign	Het
Osbpl2	T	A	2: 180,155,343	V358E	possibly damaging	Het
Pdcd11	C	A	19: 47,119,806	P1204Q	probably damaging	Het
Pnliprp2	A	C	19: 58,763,374	S184R	probably damaging	Het
Ppm1g	G	T	5: 31,204,528	R373S	probably damaging	Het
Rnf130	A	G	11: 50,087,437	D275G	probably damaging	Het
Setd5	T	C	6: 113,121,087	S696P	probably damaging	Het
Sgip1	A	G	4: 102,915,071	Q219R	probably benign	Het
Slc1a2	T	C	2: 102,736,085		probably null	Het
Slc22a12	T	C	19: 6,542,437	T106A	probably benign	Het
Slc22a14	A	G	9: 119,180,585	L148P	probably damaging	Het
Slc2a9	A	T	5: 38,382,078	F375I	probably damaging	Het
Sorbs3	A	T	14: 70,202,947	D117E	probably benign	Het
Sphkap	G	A	1: 83,276,500	T1176I	probably damaging	Het
Supt16	A	T	14: 52,181,589	V193D	probably damaging	Het
Sytl3	A	G	17: 6,728,291	T362A	probably damaging	Het
Tctn1	T	A	5: 122,246,611	Q410L	probably benign	Het
Trbc2	T	C	6: 41,547,777	Y133H		Het
Ttc28	G	A	5: 111,233,341	D1240N	probably benign	Het
Vmn2r120	A	G	17: 57,525,843	V112A	probably benign	Het
Zfp354b	A	T	11: 50,923,470	S209R	probably benign	Het
Zfp362	T	C	4: 128,774,606	H391R	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
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
disappointment	UTSW	6	97143965	missense	probably benign	0.00
Underachiever	UTSW	6	97120201	missense	probably benign	0.01
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
R7956:Eogt	UTSW	6	97143965	missense	probably benign	0.00
R8021:Eogt	UTSW	6	97134330	missense	probably damaging	1.00
R8475:Eogt	UTSW	6	97145366	nonsense	probably null
R8550:Eogt	UTSW	6	97112072	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- CCTGGATAAGCAAATTAGCATCTG -3'
(R):5'- TGTGGAGACTCTTGAGCCTG -3'

Sequencing Primer
(F):5'- GCAAATTAGCATCTGCAGGTC -3'
(R):5'- GCCCCTCTCAGAATGTTATGAG -3'

Posted On

2020-10-20