Mutagenetix > Incidental Mutation

Incidental Mutation 'R7672:Eogt'

592227

Institutional Source

Beutler Lab

Gene Symbol

Eogt

Ensembl Gene

ENSMUSG00000035245

Gene Name

EGF domain specific O-linked N-acetylglucosamine transferase

Synonyms

A130022J15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R7672 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97086985-97126143 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97090870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 423 (I423N)

Ref Sequence

ENSEMBL: ENSMUSP00000061610 (fasta)

Gene Model

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

AlphaFold

Q8BYW9

Predicted Effect

probably damaging
Transcript: ENSMUST00000054344
AA Change: I423N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245
AA Change: I423N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	C	7: 127,836,191 (GRCm39)	H134R	probably damaging	Het
Adcy4	A	G	14: 56,018,362 (GRCm39)	M195T	probably benign	Het
Aktip	T	C	8: 91,856,285 (GRCm39)	N64S	possibly damaging	Het
Aldoart1	C	A	4: 72,770,747 (GRCm39)	M20I	probably benign	Het
Alms1	T	C	6: 85,592,333 (GRCm39)	L395P	probably damaging	Het
Ankrd9	C	A	12: 110,943,180 (GRCm39)	V252F	probably benign	Het
Apof	A	T	10: 128,104,885 (GRCm39)	H13L	probably benign	Het
Bahcc1	T	C	11: 120,174,172 (GRCm39)	F1644S	possibly damaging	Het
Baz2a	A	G	10: 127,959,726 (GRCm39)	D1377G	possibly damaging	Het
Bbox1	T	A	2: 110,135,794 (GRCm39)	I62F	probably damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	TCTGTGGTCACTGGT	TCTGTGGTCACTGGTGCTGTGGTCACTGGT	3: 95,795,487 (GRCm39)		probably benign	Het
BC028528	GTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG	GTTCTGTGGTCACTGATTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG	3: 95,795,455 (GRCm39)		probably benign	Het
Bcas3	C	T	11: 85,286,213 (GRCm39)	R124*	probably null	Het
Bpnt1	T	C	1: 185,078,879 (GRCm39)	V114A	probably damaging	Het
Ccnd1	C	T	7: 144,487,793 (GRCm39)	R228H	possibly damaging	Het
Cd244a	T	C	1: 171,404,853 (GRCm39)	V235A	probably benign	Het
Cramp1	C	T	17: 25,201,440 (GRCm39)	E681K	probably damaging	Het
Crebbp	C	T	16: 3,902,574 (GRCm39)	A2222T	probably benign	Het
Cyp1a2	T	A	9: 57,589,620 (GRCm39)	T65S	probably benign	Het
Cyp26b1	T	G	6: 84,561,351 (GRCm39)	K104Q	probably benign	Het
D430041D05Rik	T	C	2: 104,071,581 (GRCm39)	I556V	probably benign	Het
Dnase1l2	A	G	17: 24,661,219 (GRCm39)	L102P	probably damaging	Het
Eef1ece2	C	A	16: 20,457,417 (GRCm39)	A483E	probably damaging	Het
Elac1	C	T	18: 73,871,925 (GRCm39)	G357S	probably benign	Het
Enam	C	A	5: 88,651,830 (GRCm39)	T1113N	possibly damaging	Het
Epc2	T	C	2: 49,435,831 (GRCm39)	S612P	possibly damaging	Het
Fam107b	T	C	2: 3,773,959 (GRCm39)	V24A	probably damaging	Het
Fhip2a	A	G	19: 57,373,750 (GRCm39)	H670R	possibly damaging	Het
Foxj3	C	T	4: 119,477,429 (GRCm39)	P413L	unknown	Het
Frg1	T	C	8: 41,870,040 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,820,455 (GRCm39)	V5396D	possibly damaging	Het
Hdlbp	T	C	1: 93,364,821 (GRCm39)	T149A	possibly damaging	Het
Heatr1	A	T	13: 12,453,545 (GRCm39)	Q2140L	probably damaging	Het
Iqcd	T	C	5: 120,744,881 (GRCm39)	L403P	probably damaging	Het
Kifbp	A	G	10: 62,413,852 (GRCm39)	I102T	probably benign	Het
Kpna2	T	G	11: 106,879,789 (GRCm39)	N505T	probably benign	Het
Lipo3	T	A	19: 33,757,785 (GRCm39)	E228V	probably benign	Het
Map4k3	C	T	17: 80,922,500 (GRCm39)	V474I	possibly damaging	Het
Mrpl11	T	C	19: 5,012,424 (GRCm39)	S2P	probably damaging	Het
Mug2	A	G	6: 122,017,678 (GRCm39)	I472V	probably benign	Het
Myom1	G	A	17: 71,391,235 (GRCm39)	V915M	possibly damaging	Het
Nedd9	A	T	13: 41,492,198 (GRCm39)	I104N	possibly damaging	Het
Nphp3	A	G	9: 103,909,159 (GRCm39)	M790V	probably benign	Het
Nr3c2	C	T	8: 77,635,838 (GRCm39)	P313L	probably damaging	Het
Obsl1	A	G	1: 75,469,365 (GRCm39)	V1192A	probably benign	Het
Or10j2	C	T	1: 173,098,440 (GRCm39)	R233W	probably benign	Het
Or52e7	A	G	7: 104,684,750 (GRCm39)	H115R	probably damaging	Het
Or5t16	T	C	2: 86,818,663 (GRCm39)	I286V	possibly damaging	Het
Prr5l	T	G	2: 101,565,083 (GRCm39)	E151A	probably damaging	Het
Psmb8	G	T	17: 34,417,404 (GRCm39)	R11L	probably benign	Het
Ptprg	T	A	14: 12,211,668 (GRCm38)	H983Q	probably benign	Het
Ptprj	T	C	2: 90,290,940 (GRCm39)	N600D	possibly damaging	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rc3h1	A	G	1: 160,778,454 (GRCm39)	S460G	probably damaging	Het
Rhot2	A	G	17: 26,062,079 (GRCm39)		probably null	Het
Sall1	T	C	8: 89,757,927 (GRCm39)	T726A	probably damaging	Het
Samd9l	G	A	6: 3,373,646 (GRCm39)	T1205I	probably benign	Het
Sh2b3	C	T	5: 121,956,822 (GRCm39)		probably null	Het
Slc22a18	G	T	7: 143,044,557 (GRCm39)	C170F	probably damaging	Het
Slc24a1	G	A	9: 64,855,209 (GRCm39)	T566I	unknown	Het
Slc4a5	T	A	6: 83,237,517 (GRCm39)	C167S	probably damaging	Het
Slc8b1	T	G	5: 120,671,100 (GRCm39)	V579G	probably damaging	Het
Snrnp200	T	C	2: 127,063,822 (GRCm39)	V667A	probably damaging	Het
Sp8	C	A	12: 118,813,070 (GRCm39)	S308R	possibly damaging	Het
Srsf9	T	A	5: 115,468,619 (GRCm39)	V85E	probably damaging	Het
Syne1	T	C	10: 5,168,527 (GRCm39)	I5285V	probably benign	Het
Tmem245	T	C	4: 56,947,069 (GRCm39)	I115V	probably benign	Het
Triqk	A	G	4: 12,980,502 (GRCm39)	D82G	probably benign	Het
Trmt11	A	T	10: 30,463,520 (GRCm39)	S198R	probably damaging	Het
Ube4b	C	T	4: 149,471,661 (GRCm39)	R75Q	probably benign	Het
Ugt3a1	C	T	15: 9,310,779 (GRCm39)	Q354*	probably null	Het
Vmn1r202	A	G	13: 22,685,850 (GRCm39)	V189A	probably benign	Het
Vmn2r26	A	G	6: 124,016,606 (GRCm39)	I357V	probably benign	Het
Wdr6	T	C	9: 108,450,947 (GRCm39)	K914R	probably benign	Het
Zfat	T	C	15: 68,130,535 (GRCm39)	M1V	probably null	Het
Zfp207	A	G	11: 80,280,116 (GRCm39)	M171V	probably benign	Het
Zfp568	C	T	7: 29,697,212 (GRCm39)	T44I	probably damaging	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
R4867:Eogt	UTSW	6	97,097,108 (GRCm39)	intron	probably benign
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
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'- CTGGCAGACCTCAGACCTTTTAG -3'
(R):5'- TCAAGTTTTCATGGCAGTGCAG -3'

Sequencing Primer
(F):5'- AGACCTCAGACCTTTTAGCTCTAGG -3'
(R):5'- CATGGCAGTGCAGATGTGG -3'

Posted On

2019-11-12