Mutagenetix > Incidental Mutation

Incidental Mutation 'R4867:Eogt'

376230

Institutional Source

Beutler Lab

Gene Symbol

Eogt

Ensembl Gene

ENSMUSG00000035245

Gene Name

EGF domain specific O-linked N-acetylglucosamine transferase

Synonyms

A130022J15Rik

MMRRC Submission

042477-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

R4867 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97086985-97126143 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 97097108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109014 (fasta)

Gene Model

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

AlphaFold

Q8BYW9

Predicted Effect

silent
Transcript: ENSMUST00000054344

SMART Domains

Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:DUF563	245	472	1.3e-31	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000054344

SMART Domains

Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:DUF563	245	472	1.3e-31	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000054344

SMART Domains

Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 125,366,099 (GRCm39)	I215V	probably damaging	Het
4921509C19Rik	A	T	2: 151,314,742 (GRCm39)	L312*	probably null	Het
9930111J21Rik1	T	A	11: 48,839,375 (GRCm39)		probably null	Het
Abca6	C	A	11: 110,093,205 (GRCm39)	V1023F	probably benign	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Acsbg2	A	G	17: 57,169,914 (GRCm39)	I151T	possibly damaging	Het
Arid1a	G	A	4: 133,448,168 (GRCm39)	S115L	probably benign	Het
B4galnt2	T	C	11: 95,759,252 (GRCm39)	D344G	probably damaging	Het
Ccdc40	T	C	11: 119,122,614 (GRCm39)	S139P	probably benign	Het
Ccnjl	T	C	11: 43,474,055 (GRCm39)	V210A	possibly damaging	Het
Cdk5rap1	C	T	2: 154,212,876 (GRCm39)		probably null	Het
Cfhr4	A	T	1: 139,702,213 (GRCm39)		probably null	Het
Cog4	T	C	8: 111,593,242 (GRCm39)	V451A	probably damaging	Het
Crb1	A	T	1: 139,170,752 (GRCm39)	N818K	probably damaging	Het
Crtc1	T	C	8: 70,855,164 (GRCm39)	D152G	probably damaging	Het
Cse1l	T	A	2: 166,768,323 (GRCm39)	I207N	possibly damaging	Het
Cux1	TGGCAGGCGCG	TG	5: 136,303,815 (GRCm39)		probably benign	Het
Cyp2j13	T	C	4: 95,947,235 (GRCm39)	Y272C	possibly damaging	Het
Cyp4f16	T	C	17: 32,769,724 (GRCm39)	F445L	possibly damaging	Het
Dlc1	T	C	8: 37,051,799 (GRCm39)	H644R	probably benign	Het
Ecm2	A	T	13: 49,684,821 (GRCm39)	I643F	probably damaging	Het
Fbxo41	A	C	6: 85,452,176 (GRCm39)	S777A	probably benign	Het
Fga	T	A	3: 82,935,951 (GRCm39)	D59E	probably benign	Het
Flt3	A	T	5: 147,271,250 (GRCm39)	V897D	probably damaging	Het
Fmn1	G	T	2: 113,414,465 (GRCm39)		probably null	Het
Frem3	T	C	8: 81,339,912 (GRCm39)	L735P	probably damaging	Het
Ftmt	A	T	18: 52,465,125 (GRCm39)	D147V	possibly damaging	Het
Gabpa	T	A	16: 84,654,356 (GRCm39)	D344E	probably benign	Het
Gtf3a	C	T	5: 146,888,723 (GRCm39)	Q145*	probably null	Het
Il36rn	A	T	2: 24,170,847 (GRCm39)	N48I	probably damaging	Het
Iqca1	A	G	1: 90,017,226 (GRCm39)	L403S	probably benign	Het
Jrk	C	T	15: 74,579,069 (GRCm39)	R72Q	probably benign	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Krt12	T	C	11: 99,307,789 (GRCm39)	D433G	possibly damaging	Het
Lce1h	A	T	3: 92,670,770 (GRCm39)	S127R	unknown	Het
Lrrc7	T	G	3: 157,866,642 (GRCm39)	Y1033S	probably damaging	Het
Macf1	A	G	4: 123,365,993 (GRCm39)	S1358P	probably damaging	Het
Mfsd1	T	A	3: 67,495,320 (GRCm39)		probably null	Het
Mki67	T	C	7: 135,301,585 (GRCm39)	T1150A	probably damaging	Het
Nadk2	A	G	15: 9,098,946 (GRCm39)	I291M	possibly damaging	Het
Or13g1	T	C	7: 85,955,491 (GRCm39)	T277A	probably benign	Het
Or1j12	A	C	2: 36,343,211 (GRCm39)	M205L	probably benign	Het
Or2r2	A	G	6: 42,464,031 (GRCm39)	V32A	probably benign	Het
Or6e1	T	A	14: 54,520,086 (GRCm39)	T89S	probably benign	Het
Or7g17	A	T	9: 18,768,862 (GRCm39)	I305F	probably benign	Het
Parp14	T	A	16: 35,677,697 (GRCm39)	Y757F	probably benign	Het
Pcdh18	T	C	3: 49,709,113 (GRCm39)	Y734C	probably damaging	Het
Pcnx4	T	C	12: 72,620,726 (GRCm39)	S849P	probably benign	Het
Pds5a	T	C	5: 65,801,463 (GRCm39)	K595E	probably damaging	Het
Prkg2	T	A	5: 99,172,568 (GRCm39)	Y49F	probably benign	Het
Prr5	G	T	15: 84,624,967 (GRCm39)	L46F	probably benign	Het
Ptgdr	G	T	14: 45,096,253 (GRCm39)	P153Q	probably damaging	Het
Rbm12b2	T	C	4: 12,094,805 (GRCm39)	S555P	probably damaging	Het
Rhog	T	G	7: 101,889,357 (GRCm39)	Y32S	probably damaging	Het
Rnf141	T	C	7: 110,415,975 (GRCm39)	T209A	probably damaging	Het
Rtkn2	T	C	10: 67,837,757 (GRCm39)	I103T	probably damaging	Het
Scn5a	G	T	9: 119,379,737 (GRCm39)	C182*	probably null	Het
Sema3a	A	G	5: 13,501,208 (GRCm39)	N84D	probably benign	Het
Sema5a	G	T	15: 32,550,436 (GRCm39)	M158I	possibly damaging	Het
Shprh	T	A	10: 11,040,301 (GRCm39)	D71E	probably benign	Het
Slc26a8	A	G	17: 28,882,608 (GRCm39)	I239T	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Ston1	C	T	17: 88,943,122 (GRCm39)	A176V	probably damaging	Het
Sult2a5	T	C	7: 13,357,976 (GRCm39)	S3P	probably benign	Het
Tango6	T	A	8: 107,545,158 (GRCm39)	V1007E	probably damaging	Het
Tank	G	A	2: 61,408,979 (GRCm39)		probably benign	Het
Tas2r124	A	G	6: 132,732,156 (GRCm39)	Y155C	probably damaging	Het
Tenm3	G	A	8: 48,688,856 (GRCm39)	R2244W	probably damaging	Het
Thoc2l	T	C	5: 104,668,868 (GRCm39)	I1130T	possibly damaging	Het
Tlk1	A	T	2: 70,551,915 (GRCm39)	Y585*	probably null	Het
Tmem221	C	T	8: 72,007,784 (GRCm39)	E214K	probably benign	Het
Tmem38a	T	C	8: 73,335,077 (GRCm39)	V172A	possibly damaging	Het
Tspo2	C	T	17: 48,755,705 (GRCm39)	A146T	possibly damaging	Het
Ttc3	G	A	16: 94,255,374 (GRCm39)	A1268T	probably damaging	Het
Usp25	T	A	16: 76,847,355 (GRCm39)	D154E	probably damaging	Het
Usp34	T	C	11: 23,401,999 (GRCm39)	F2410L	probably benign	Het
Vmn1r128	T	A	7: 21,083,939 (GRCm39)	H214Q	possibly damaging	Het
Vmn1r24	A	C	6: 57,933,421 (GRCm39)	C32W	probably damaging	Het
Zfp931	T	A	2: 177,709,855 (GRCm39)	H177L	probably damaging	Het
Znrf1	T	C	8: 112,264,198 (GRCm39)		probably null	Het

Other mutations in Eogt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Eogt	APN	6	97,096,961 (GRCm39)	missense	probably damaging	0.97
IGL01292:Eogt	APN	6	97,120,988 (GRCm39)	missense	possibly damaging	0.88
IGL02332:Eogt	APN	6	97,102,566 (GRCm39)	missense	probably damaging	1.00
IGL02439:Eogt	APN	6	97,120,934 (GRCm39)	missense	possibly damaging	0.83
disappointment	UTSW	6	97,120,926 (GRCm39)	missense	probably benign	0.00
lovelorn	UTSW	6	97,090,875 (GRCm39)	missense	probably damaging	1.00
mournful	UTSW	6	97,095,915 (GRCm39)	splice site	probably null
predawn	UTSW	6	97,112,245 (GRCm39)	splice site	probably benign
Underachiever	UTSW	6	97,097,162 (GRCm39)	missense	probably benign	0.01
R0019:Eogt	UTSW	6	97,111,234 (GRCm39)	unclassified	probably benign
R0112:Eogt	UTSW	6	97,112,245 (GRCm39)	splice site	probably benign
R0325:Eogt	UTSW	6	97,090,916 (GRCm39)	missense	probably damaging	0.99
R0497:Eogt	UTSW	6	97,112,194 (GRCm39)	missense	probably benign	0.00
R0730:Eogt	UTSW	6	97,092,970 (GRCm39)	nonsense	probably null
R1730:Eogt	UTSW	6	97,090,825 (GRCm39)	missense	probably damaging	1.00
R1783:Eogt	UTSW	6	97,090,825 (GRCm39)	missense	probably damaging	1.00
R2074:Eogt	UTSW	6	97,108,337 (GRCm39)	missense	probably benign	0.02
R2279:Eogt	UTSW	6	97,111,262 (GRCm39)	missense	probably benign	0.28
R2679:Eogt	UTSW	6	97,097,761 (GRCm39)	missense	probably benign	0.01
R2993:Eogt	UTSW	6	97,095,915 (GRCm39)	splice site	probably null
R3176:Eogt	UTSW	6	97,108,355 (GRCm39)	missense	probably benign	0.21
R3276:Eogt	UTSW	6	97,108,355 (GRCm39)	missense	probably benign	0.21
R3876:Eogt	UTSW	6	97,097,151 (GRCm39)	missense	probably damaging	0.99
R3940:Eogt	UTSW	6	97,090,875 (GRCm39)	missense	probably damaging	1.00
R4613:Eogt	UTSW	6	97,111,265 (GRCm39)	missense	probably benign	0.00
R4704:Eogt	UTSW	6	97,090,813 (GRCm39)	missense	probably damaging	0.99
R4849:Eogt	UTSW	6	97,093,016 (GRCm39)	missense	probably damaging	0.99
R4905:Eogt	UTSW	6	97,119,792 (GRCm39)	missense	probably benign	0.01
R5120:Eogt	UTSW	6	97,111,276 (GRCm39)	missense	probably benign
R5143:Eogt	UTSW	6	97,102,545 (GRCm39)	missense	probably damaging	1.00
R5594:Eogt	UTSW	6	97,092,996 (GRCm39)	missense	probably benign	0.01
R6351:Eogt	UTSW	6	97,097,155 (GRCm39)	missense	probably damaging	1.00
R6418:Eogt	UTSW	6	97,122,353 (GRCm39)	missense	possibly damaging	0.77
R6498:Eogt	UTSW	6	97,112,174 (GRCm39)	missense	probably damaging	1.00
R6950:Eogt	UTSW	6	97,111,343 (GRCm39)	missense	possibly damaging	0.77
R7114:Eogt	UTSW	6	97,092,965 (GRCm39)	missense	probably damaging	1.00
R7185:Eogt	UTSW	6	97,097,139 (GRCm39)	missense	probably damaging	1.00
R7221:Eogt	UTSW	6	97,089,685 (GRCm39)	missense	probably damaging	1.00
R7232:Eogt	UTSW	6	97,096,944 (GRCm39)	missense	probably damaging	0.98
R7467:Eogt	UTSW	6	97,119,794 (GRCm39)	missense	probably benign	0.01
R7526:Eogt	UTSW	6	97,090,913 (GRCm39)	missense	probably damaging	1.00
R7672:Eogt	UTSW	6	97,090,870 (GRCm39)	missense	probably damaging	1.00
R7851:Eogt	UTSW	6	97,097,162 (GRCm39)	missense	probably benign	0.01
R7956:Eogt	UTSW	6	97,120,926 (GRCm39)	missense	probably benign	0.00
R8021:Eogt	UTSW	6	97,111,291 (GRCm39)	missense	probably damaging	1.00
R8475:Eogt	UTSW	6	97,122,327 (GRCm39)	nonsense	probably null
R8508:Eogt	UTSW	6	97,120,959 (GRCm39)	missense	possibly damaging	0.67
R8550:Eogt	UTSW	6	97,089,033 (GRCm39)	missense	probably benign	0.20
R8854:Eogt	UTSW	6	97,108,359 (GRCm39)	nonsense	probably null
R9149:Eogt	UTSW	6	97,090,839 (GRCm39)	missense	probably damaging	1.00
R9258:Eogt	UTSW	6	97,089,043 (GRCm39)	missense	possibly damaging	0.86
R9500:Eogt	UTSW	6	97,096,992 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GTGATGTTCAGCCTATGCAGC -3'
(R):5'- CTGTGGTGTCTACCCTATGAAGG -3'

Sequencing Primer
(F):5'- GATGTTCAGCCTATGCAGCACATG -3'
(R):5'- CCTATGAAGGGTGCATACCTTGC -3'

Posted On

2016-03-17