Mutagenetix > Incidental Mutations

Incidental Mutation 'R4905:Eogt'

378099

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?

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

Stock #

R4905 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

97110024-97149182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97142831 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 139 (R139G)

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: R139G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245
AA Change: R139G

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
AA Change: R139G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000117541
Gene: ENSMUSG00000035245
AA Change: R139G

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

SMART Domains

Protein: ENSMUSP00000115101
Gene: ENSMUSG00000035245

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: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.5%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,612,818		probably null	Het
1700123L14Rik	T	A	6: 96,165,930	R44S	possibly damaging	Het
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
9530053A07Rik	A	T	7: 28,156,983	K2065M	possibly damaging	Het
Abcc5	A	G	16: 20,399,928	S235P	probably damaging	Het
Abcc6	T	C	7: 45,995,225	N842S	probably benign	Het
Acbd6	G	A	1: 155,624,923	V210I	probably benign	Het
Ahctf1	A	T	1: 179,748,627	V2130D	probably damaging	Het
Akap5	A	G	12: 76,328,433	E213G	probably damaging	Het
Alyref	T	G	11: 120,596,053		probably null	Het
Anapc5	G	T	5: 122,817,910	N152K	probably benign	Het
Atp8b2	A	T	3: 89,949,008	D416E	probably benign	Het
AW551984	A	T	9: 39,597,158	V354E	probably damaging	Het
Bag6	A	G	17: 35,145,186	E844G	probably damaging	Het
Bmp1	C	T	14: 70,491,362	R590H	probably benign	Het
Ccnh	T	C	13: 85,206,135	S233P	possibly damaging	Het
Cdca7	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	2: 72,481,861		probably benign	Het
Col6a6	A	G	9: 105,767,424	S1222P	probably damaging	Het
Dhfr	G	A	13: 92,365,774	G118S	probably damaging	Het
Dnah9	G	A	11: 65,874,124	R1414*	probably null	Het
Dnaic1	A	G	4: 41,614,269	D315G	probably benign	Het
Fh1	C	T	1: 175,619,073	G79E	probably damaging	Het
Gabrg3	A	G	7: 56,724,556	Y421H	probably damaging	Het
Glipr1	C	A	10: 111,985,640	R219L	probably damaging	Het
Gm1123	T	C	9: 99,009,316	D360G	probably benign	Het
Ift81	C	T	5: 122,591,079		probably null	Het
Itsn2	A	G	12: 4,634,583		probably benign	Het
Kri1	A	T	9: 21,287,702	H55Q	probably benign	Het
Mcidas	C	A	13: 112,994,417	A92E	possibly damaging	Het
Mcidas	C	T	13: 112,997,504	T174M	possibly damaging	Het
Mmp25	C	A	17: 23,644,048	G130*	probably null	Het
Myh11	G	A	16: 14,250,523	T211M	probably benign	Het
Myo10	A	G	15: 25,800,212	D1458G	probably damaging	Het
Ncf4	A	G	15: 78,254,904	T154A	probably damaging	Het
Nfatc4	T	C	14: 55,830,582	I620T	probably benign	Het
Nos3	A	T	5: 24,367,331	Y134F	probably benign	Het
Olfr1459	C	A	19: 13,146,177	A161S	probably benign	Het
Olfr273	T	C	4: 52,855,613	N300S	probably damaging	Het
Olfr575	A	T	7: 102,955,514	I36N	probably damaging	Het
Olfr799	T	A	10: 129,647,923	V265E	possibly damaging	Het
Pax9	G	T	12: 56,696,626	R19S	probably damaging	Het
Pcdha9	T	C	18: 36,998,892	I338T	probably damaging	Het
Plxnb2	G	T	15: 89,157,411	T1730K	probably damaging	Het
Rac1	A	G	5: 143,517,152		probably null	Het
Samsn1	G	T	16: 75,876,465	F174L	possibly damaging	Het
Scaf1	G	A	7: 45,012,705	T86M	probably damaging	Het
Smc1b	A	G	15: 85,066,227	Y1199H	probably damaging	Het
Svep1	A	G	4: 58,069,308	I2826T	probably benign	Het
Tex36	A	G	7: 133,587,453	V130A	probably damaging	Het
Tigd5	A	G	15: 75,911,403	H538R	probably damaging	Het
Tlr3	C	A	8: 45,399,223		probably null	Het
Tubb2b	A	T	13: 34,128,204	I202N	probably damaging	Het
Unc13c	A	G	9: 73,680,392	V1453A	probably benign	Het
Unc5c	A	T	3: 141,801,310	T608S	probably benign	Het
Vrk1	C	A	12: 106,051,828	H119N	probably damaging	Het
Wdr53	T	A	16: 32,256,658	M227K	probably benign	Het
Xpo4	T	C	14: 57,638,289	D129G	possibly damaging	Het
Zcchc4	T	C	5: 52,796,650	I224T	probably damaging	Het
Zdhhc1	T	A	8: 105,483,694	E30D	probably damaging	Het
Zscan29	C	G	2: 121,161,383	R540T	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
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
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
R8508:Eogt	UTSW	6	97143998	missense	possibly damaging	0.67
R8550:Eogt	UTSW	6	97112072	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- TTCTTGAGTCCCAATGTAACCACAC -3'
(R):5'- TTCCAGGGGATCTGATGCCT -3'

Sequencing Primer
(F):5'- ACACGACTCGCTTGTTAGAG -3'
(R):5'- GCATTCATATGGCGGCAC -3'

Posted On

2016-04-15