Mutagenetix > Incidental Mutations

Incidental Mutation 'R3276:Eogt'

258210

Institutional Source

Beutler Lab

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: 0.248) question?

Stock #

R3276 (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 97131394 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 229 (I229F)

Ref Sequence

ENSEMBL: ENSMUSP00000061610 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000054344
AA Change: I229F

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245
AA Change: I229F

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

probably benign
Transcript: ENSMUST00000136575

SMART Domains

Protein: ENSMUSP00000117541
Gene: ENSMUSG00000035245

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

Meta Mutation Damage Score

0.3070

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

96% (47/49)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 86,506,866	R1269H	probably damaging	Het
Ace	A	G	11: 105,976,702	E164G	probably null	Het
Als2	A	T	1: 59,170,008	V1464E	possibly damaging	Het
Atox1	A	G	11: 55,450,553	L52P	possibly damaging	Het
Btnl10	A	G	11: 58,922,390	K282E	probably benign	Het
Cdkn3	T	C	14: 46,771,477		probably benign	Het
Col16a1	A	G	4: 130,057,999	K72E	probably damaging	Het
Col6a5	G	A	9: 105,911,107	R1565*	probably null	Het
Col6a6	T	C	9: 105,786,230	H36R	probably benign	Het
Cyp4b1	T	C	4: 115,625,850	N415D	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Dhcr24	T	C	4: 106,561,239	F25L	probably benign	Het
Dhrs3	A	G	4: 144,923,940	T219A	probably benign	Het
Dhx58	A	G	11: 100,696,979	F584S	probably damaging	Het
Dmbt1	A	G	7: 131,088,071	T715A	probably benign	Het
Ern2	T	C	7: 122,180,964	T164A	possibly damaging	Het
Fam133b	A	T	5: 3,558,522	N84I	probably damaging	Het
Fbxl21	T	A	13: 56,537,122	Y346*	probably null	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Gm11492	T	C	11: 87,567,244	V148A	possibly damaging	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Golga3	T	C	5: 110,201,998		probably benign	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Itgad	C	A	7: 128,190,981	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kcnt2	A	G	1: 140,609,639	N1119S	probably benign	Het
Klhl32	T	C	4: 24,682,063	I207V	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lhfpl5	T	C	17: 28,579,946	I143T	possibly damaging	Het
Lrrk1	T	C	7: 66,305,521	K431E	possibly damaging	Het
Mag	C	T	7: 30,901,648		probably null	Het
Maml3	A	T	3: 51,856,930	N204K	possibly damaging	Het
Mrpl19	T	C	6: 81,964,066	S115G	probably damaging	Het
Mthfd1l	G	C	10: 4,148,025	G954A	probably damaging	Het
Mut	A	G	17: 40,958,872		probably null	Het
Myo19	A	G	11: 84,892,175	I172V	probably benign	Het
Naca	T	C	10: 128,040,661		probably benign	Het
Nfatc2	T	C	2: 168,506,994	N638D	possibly damaging	Het
Nsun6	A	G	2: 15,009,404		probably benign	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Olfr584	C	A	7: 103,085,750	D72E	probably damaging	Het
Olfr913	T	A	9: 38,594,643	C141S	probably damaging	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Pafah1b1	G	A	11: 74,690,232	S57F	probably damaging	Het
Prcd	A	G	11: 116,659,811	E103G	possibly damaging	Het
Prkx	A	T	X: 77,771,275	F260I	probably damaging	Het
Rad54l2	A	G	9: 106,753,943		probably null	Het
Ranbp1	T	C	16: 18,247,429		probably benign	Het
Rb1cc1	T	A	1: 6,249,366	M1003K	probably benign	Het
Scap	A	T	9: 110,374,025	M256L	probably benign	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Tmem120b	T	A	5: 123,114,104	I146N	probably damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Ube3a	T	A	7: 59,276,519	C348*	probably null	Het
Ubr4	T	A	4: 139,421,855	D1777E	probably benign	Het
Unc79	C	A	12: 103,113,217	D1880E	probably damaging	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Zswim9	T	C	7: 13,277,270	T51A	possibly 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
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
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	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACCACTTTCAGCACATTC -3'
(R):5'- GTGGGACTGTCTTGTACTAGAAC -3'

Sequencing Primer
(F):5'- GGTCAGTTCATGCAAATCGC -3'
(R):5'- CTAAAATCTGCCTCATGAACAGGTC -3'

Posted On

2015-01-23