Mutagenetix > Incidental Mutations

Incidental Mutation 'R5594:Eogt'

437691

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

043146-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.228) question?

Stock #

R5594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97110024-97149182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97116035 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 394 (T394S)

Ref Sequence

ENSEMBL: ENSMUSP00000061610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054344] [ENSMUST00000113387]

Predicted Effect

probably benign
Transcript: ENSMUST00000054344
AA Change: T394S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245
AA Change: T394S

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: ENSMUST00000130562

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135187

Meta Mutation Damage Score

0.0799

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.4%

Validation Efficiency

100% (80/80)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	C	T	11: 3,938,027	V120I	unknown	Het
4931414P19Rik	A	G	14: 54,584,984	Y399H	probably damaging	Het
5430419D17Rik	T	A	7: 131,239,523	D647E	probably benign	Het
6430573F11Rik	A	G	8: 36,512,298	T352A	probably benign	Het
Abca9	G	T	11: 110,144,862	P644Q	probably damaging	Het
Acly	T	C	11: 100,522,120		probably null	Het
Adamts14	A	T	10: 61,227,101		probably null	Het
Ankdd1a	T	C	9: 65,502,241	N471S	probably damaging	Het
Ankrd39	C	T	1: 36,541,981	G96R	probably damaging	Het
Arhgef28	T	C	13: 97,939,492	T1345A	probably benign	Het
Arhgef40	T	A	14: 51,996,157	L820H	probably damaging	Het
Atp2b4	A	G	1: 133,730,510	V554A	probably damaging	Het
Birc7	G	A	2: 180,933,336		probably null	Het
Ccdc80	C	T	16: 45,116,263	R684C	probably benign	Het
Cdc25b	C	A	2: 131,191,618	P159Q	probably damaging	Het
Chek2	G	T	5: 110,855,834		probably null	Het
Chil6	C	T	3: 106,394,429		probably null	Het
Cr2	A	G	1: 195,157,190	I643T	probably damaging	Het
Cwf19l2	C	A	9: 3,418,773	Q187K	probably benign	Het
Cyth4	A	G	15: 78,607,075		probably null	Het
Depdc5	A	G	5: 32,901,490	T268A	possibly damaging	Het
Dnah17	G	T	11: 118,043,229		probably null	Het
Dnah3	T	C	7: 119,971,621	Y2210C	possibly damaging	Het
Elmod3	G	A	6: 72,594,816		probably benign	Het
Evi5	A	G	5: 107,820,451	V182A	possibly damaging	Het
Fbxo30	T	C	10: 11,290,479	I315T	probably benign	Het
Fibcd1	T	C	2: 31,838,617	N76S	probably damaging	Het
Gcc2	G	T	10: 58,287,242	R1190M	probably damaging	Het
Gfm2	T	C	13: 97,165,038	S450P	probably damaging	Het
Glg1	G	A	8: 111,187,881	R424C	probably damaging	Het
Gm11543	T	A	11: 94,828,554		noncoding transcript	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Hhip	G	T	8: 79,996,863	D387E	probably damaging	Het
Hif1a	T	A	12: 73,937,792	Y46*	probably null	Het
Hivep3	G	T	4: 120,123,048		probably null	Het
Kif13a	T	A	13: 46,752,862	E535V	probably damaging	Het
Lrch3	T	C	16: 32,914,184	Y15H	probably damaging	Het
Lyst	T	G	13: 13,743,333	I3326S	probably damaging	Het
Lyst	T	A	13: 13,759,397	V3560E	probably benign	Het
Megf11	T	C	9: 64,686,473	F613L	probably damaging	Het
Misp	G	A	10: 79,827,143	V465M	probably damaging	Het
Ms4a6c	T	A	19: 11,478,173	D115E	probably benign	Het
Msh6	A	G	17: 87,986,069	T751A	probably benign	Het
Ntrk3	T	A	7: 78,451,899	T429S	probably benign	Het
Olfr128	T	A	17: 37,923,611	M15K	probably benign	Het
Olfr857	T	C	9: 19,713,006	Y60H	probably damaging	Het
Oplah	A	C	15: 76,296,637	*1289G	probably null	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcdhga6	A	T	18: 37,708,528	T434S	probably benign	Het
Pign	A	G	1: 105,646,869		probably benign	Het
Poteg	A	T	8: 27,447,968	I51F	probably benign	Het
Prrc2c	C	A	1: 162,699,031	V204F	unknown	Het
Rhbdd3	T	C	11: 5,105,710	S325P	probably damaging	Het
Rit1	T	A	3: 88,729,137	L116Q	probably damaging	Het
Rpl22	T	A	4: 152,325,802		probably benign	Het
Rttn	A	G	18: 89,090,436	E1588G	possibly damaging	Het
Sardh	A	G	2: 27,220,723	F577S	probably damaging	Het
Slc12a7	T	A	13: 73,785,139	D105E	probably benign	Het
Slc22a23	T	A	13: 34,305,257	D215V	probably damaging	Het
Slc4a8	C	A	15: 100,795,887	P438T	probably damaging	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Stk19	C	T	17: 34,820,562		probably benign	Het
Stx5a	T	C	19: 8,748,465	I143T	probably damaging	Het
Tep1	T	C	14: 50,829,882	H2232R	possibly damaging	Het
Ttc21b	A	G	2: 66,236,235	I358T	probably benign	Het
Tuba8	A	G	6: 121,225,904	D392G	possibly damaging	Het
Vmn1r1	G	A	1: 182,157,407	P231L	probably damaging	Het
Zfp330	A	G	8: 82,767,312	W107R	probably damaging	Het
Zfp715	T	A	7: 43,299,692	Q281H	possibly damaging	Het
Zfp9	T	C	6: 118,465,039	T221A	probably damaging	Het
Zgpat	T	C	2: 181,365,627		probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTTGAGGCCTCTGTCATCC -3'
(R):5'- TACTGGTAACTTGCATGCGC -3'

Sequencing Primer
(F):5'- ATCCCTGTCTTGTTTAATGACTGAG -3'
(R):5'- CGCATGCATGAGTGTGC -3'

Posted On

2016-10-26