Mutagenetix > Incidental Mutations

Incidental Mutation 'R8021:Eogt'

617362

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R8021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97110024-97149182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 97134330 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 190 (D190A)

Ref Sequence

ENSEMBL: ENSMUSP00000061610 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000054344
AA Change: D190A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245
AA Change: D190A

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

probably benign
Transcript: ENSMUST00000136575

SMART Domains

Protein: ENSMUSP00000117541
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: 99.8%
20x: 99.3%

Validation Efficiency

97% (74/76)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	A	G	11: 107,025,927	I12V	unknown	Het
9130011E15Rik	C	T	19: 45,956,741		probably null	Het
A630010A05Rik	C	T	16: 14,589,246	T13I		Het
Acsm5	A	G	7: 119,542,393	E537G	possibly damaging	Het
Adam25	C	A	8: 40,754,759	A354E	probably damaging	Het
Adamts3	T	C	5: 89,683,184	K1004E	possibly damaging	Het
Ap3d1	C	A	10: 80,714,301	V699L	probably benign	Het
Arel1	T	G	12: 84,934,958	H216P	possibly damaging	Het
Armc12	T	A	17: 28,530,905	F8I	probably benign	Het
Ascc3	T	A	10: 50,731,648	M1416K	probably benign	Het
Catsperb	A	C	12: 101,588,063	N672T	probably benign	Het
Ccdc30	T	C	4: 119,352,679	H291R	probably benign	Het
Cd33	A	G	7: 43,528,838	V371A	unknown	Het
Cpt1b	A	T	15: 89,421,426	M362K	probably benign	Het
Dusp5	T	A	19: 53,529,498	S61T	probably benign	Het
Fat3	T	A	9: 15,999,109	I1866F	probably damaging	Het
Fer1l4	T	A	2: 156,022,591	I1668F	probably damaging	Het
Foxn3	A	T	12: 99,388,902	M1K	probably null	Het
Frs3	T	A	17: 47,703,114	V244E	probably damaging	Het
Gm8765	A	G	13: 50,701,094	N256S	possibly damaging	Het
Grik1	C	T	16: 87,914,222	V832I		Het
Gtf2ird2	T	A	5: 134,203,334	V242E	probably benign	Het
Gtpbp2	C	T	17: 46,164,269	R97C	possibly damaging	Het
Habp2	T	A	19: 56,314,053	V263E	probably benign	Het
Iars2	T	A	1: 185,322,457	I337L	probably benign	Het
Ifi204	T	C	1: 173,759,353		probably benign	Het
Itih2	T	C	2: 10,105,652	T543A	probably benign	Het
Kdm2b	A	G	5: 122,932,919	S372P	probably damaging	Het
Kit	T	A	5: 75,615,491	V311E	possibly damaging	Het
Kmt2c	C	G	5: 25,287,119	V4230L	possibly damaging	Het
Lao1	T	C	4: 118,968,477	I498T	probably damaging	Het
Lrp1	G	T	10: 127,548,346	D3641E	possibly damaging	Het
Mapk8ip1	A	T	2: 92,386,415	S477T	possibly damaging	Het
Mast3	C	T	8: 70,788,252	G218S	probably benign	Het
Mical1	T	C	10: 41,482,724	V546A	probably damaging	Het
Nck2	T	C	1: 43,554,260	V209A	probably benign	Het
Ndufs4	A	G	13: 114,307,815		probably null	Het
Nek3	C	T	8: 22,157,190	V139M	probably damaging	Het
Olfr1417	T	C	19: 11,828,892	I45V	probably benign	Het
Olfr863-ps1	A	C	9: 19,942,079	Y120*	probably null	Het
Olfr877	T	A	9: 37,855,296	H159Q	probably damaging	Het
Olfr994	A	T	2: 85,430,652	M59K	probably damaging	Het
Otog	A	T	7: 46,267,342	N901I	probably damaging	Het
Pclo	A	C	5: 14,539,784	Q699H	unknown	Het
Pcnx	C	T	12: 81,918,819	R59*	probably null	Het
Pde12	A	T	14: 26,665,699	Y551*	probably null	Het
Pigg	A	G	5: 108,319,939	D268G	probably damaging	Het
Ppp1r21	A	G	17: 88,549,507	D130G	probably benign	Het
Psip1	T	C	4: 83,459,955	T435A	possibly damaging	Het
Rad54l2	T	C	9: 106,719,641	S189G	probably benign	Het
Rgs14	T	C	13: 55,383,756	C498R	probably damaging	Het
Ripply3	C	A	16: 94,328,510	A5E	probably benign	Het
Rps6ka4	T	C	19: 6,830,409	D676G	probably benign	Het
Rsbn1	T	C	3: 103,928,582	L312S	possibly damaging	Het
Secisbp2	T	A	13: 51,665,628	*415R	probably null	Het
Sephs1	T	A	2: 4,906,623	F336Y	probably benign	Het
Setdb2	A	T	14: 59,423,384	Y103*	probably null	Het
Slit2	T	A	5: 48,302,492	C1371*	probably null	Het
Stab2	C	T	10: 86,905,539	A1239T	possibly damaging	Het
Taf4b	T	A	18: 14,804,524	V218E	probably damaging	Het
Tars2	T	C	3: 95,747,514	N393S	probably benign	Het
Tbc1d30	A	G	10: 121,267,543	M528T	probably benign	Het
Tchp	A	G	5: 114,718,417	E363G	probably damaging	Het
Tec	T	A	5: 72,757,469	N568I	probably benign	Het
Ticam1	A	G	17: 56,270,089	S669P	unknown	Het
Tnk1	A	G	11: 69,854,984	S372P	probably benign	Het
Tnpo2	G	A	8: 85,055,206	A847T	probably damaging	Het
Tsc1	A	T	2: 28,686,889	I1068F	possibly damaging	Het
Ttc14	T	A	3: 33,809,121	Y559*	probably null	Het
Ttc41	C	A	10: 86,733,714	T652N	probably benign	Het
Tut1	T	A	19: 8,955,509	S69T	probably benign	Het
Uck1	T	C	2: 32,259,917	S40G	probably benign	Het
Vmn2r76	G	A	7: 86,225,750	T673I	probably damaging	Het
Vps13d	G	T	4: 145,148,675	P1760H		Het
Zbp1	T	C	2: 173,209,210	N289S	possibly damaging	Het
Zc3hav1l	C	A	6: 38,297,947		probably benign	Het
Zzef1	A	T	11: 72,823,416	D244V	probably 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
R0112_Eogt_502	UTSW	6	97135284	splice site	probably benign
R2993_Eogt_963	UTSW	6	97118954	splice site	probably null
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
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
R7956:Eogt	UTSW	6	97143965	missense	probably benign	0.00
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
R8854:Eogt	UTSW	6	97131398	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCACACATCAGGAAACTTTATATCC -3'
(R):5'- CTGTTGTAGGGCGCCTGTC -3'

Sequencing Primer
(F):5'- CAATTCCTAGCAACTACGTGGTGG -3'
(R):5'- ATTACCCTGGGTTACATGAGACC -3'

Posted On

2020-01-23