Mutagenetix > Incidental Mutation

Incidental Mutation 'R7185:Eogt'

559236

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

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R7185 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97110024-97149182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 97120178 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 321 (R321H)

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: R321H

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

SMART Domains

Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245
AA Change: R321H

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

100% (63/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600002K03Rik	G	A	10: 80,173,129	G55E	probably damaging	Het
2610044O15Rik8	A	T	8: 129,220,021	C108S	probably benign	Het
4930430F08Rik	T	C	10: 100,589,211		probably benign	Het
Afmid	T	A	11: 117,834,773	D95E	possibly damaging	Het
Ak7	A	G	12: 105,742,276	E330G	probably damaging	Het
B3gat2	A	C	1: 23,763,191	D186A	probably damaging	Het
Baz1a	G	A	12: 54,975,308	T63M	probably damaging	Het
Bhmt2	A	T	13: 93,663,271	M219K	probably benign	Het
Cd200r1	A	G	16: 44,789,612	T65A	probably benign	Het
Cdc14a	T	C	3: 116,294,027	E494G	probably benign	Het
Cenpf	A	G	1: 189,653,489	L2198P	probably damaging	Het
Col4a2	T	A	8: 11,399,739	D117E	probably damaging	Het
Ddr2	C	A	1: 169,987,054	V607L	probably damaging	Het
Dennd4c	A	G	4: 86,811,450	Y763C	probably damaging	Het
Ecscr	T	A	18: 35,716,804	T93S	probably benign	Het
Fras1	T	C	5: 96,636,776	S873P	probably damaging	Het
Gm29735	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	7: 142,156,529		probably benign	Het
Gm8247	A	G	14: 44,586,402	I182V		Het
Gpatch2	T	C	1: 187,226,197	S250P	probably damaging	Het
Gramd1b	T	C	9: 40,333,563	D183G	probably benign	Het
Hspa5	T	C	2: 34,775,126	V433A	probably damaging	Het
Igkv8-30	C	A	6: 70,117,606	Q4H	probably benign	Het
Igkv8-30	T	G	6: 70,117,607	Q4P	probably damaging	Het
Kcnj5	T	G	9: 32,322,176	N281T	probably damaging	Het
L1td1	A	G	4: 98,736,618	E350G	possibly damaging	Het
Layn	T	C	9: 51,073,873	T128A	possibly damaging	Het
Liph	T	C	16: 21,995,339	M11V	probably benign	Het
Lrp1b	C	T	2: 40,801,512		probably null	Het
Mcrip1	A	C	11: 120,544,679		probably null	Het
Myh1	G	A	11: 67,207,459	E486K	probably damaging	Het
Nav1	T	C	1: 135,471,008	K612R	possibly damaging	Het
Nek10	A	G	14: 14,846,621	K245E	probably benign	Het
Nipal1	T	A	5: 72,666,855	S181T	probably damaging	Het
Nme8	A	C	13: 19,677,883	L192R	probably damaging	Het
Nol7	G	A	13: 43,406,831		probably null	Het
Oas1b	G	A	5: 120,817,772	R205H	not run	Het
Olfr1138	A	G	2: 87,738,145	Y60H	probably damaging	Het
Olfr1305	T	G	2: 111,873,822	E11A	possibly damaging	Het
Olfr71	A	G	4: 43,706,082	I162T	possibly damaging	Het
Pcdhgb6	T	C	18: 37,743,648	S470P	probably benign	Het
Pdzk1ip1	A	T	4: 115,089,108	H55L	possibly damaging	Het
Pibf1	T	A	14: 99,107,316	M124K	possibly damaging	Het
Prr36	C	T	8: 4,216,458	G31R	probably damaging	Het
Ptchd4	C	A	17: 42,503,188	A660D	probably damaging	Het
Qsox2	A	G	2: 26,220,706	V166A	possibly damaging	Het
Rb1cc1	A	T	1: 6,238,383	Y164F	probably damaging	Het
Rest	C	A	5: 77,282,484	H917N	probably benign	Het
Rnf213	T	C	11: 119,424,198	C955R		Het
Scn7a	T	A	2: 66,687,795	N1024I	possibly damaging	Het
Sec11c	T	A	18: 65,814,892	D134E	probably damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spo11	T	A	2: 172,982,192		probably null	Het
Srd5a3	T	C	5: 76,153,572	I216T	probably benign	Het
Tcaf3	T	C	6: 42,593,930	N296S	probably benign	Het
Tepsin	T	C	11: 120,093,817	D259G	probably damaging	Het
Themis	G	A	10: 28,781,877	S300N	probably benign	Het
Trhr2	T	A	8: 122,360,657	T15S	probably benign	Het
Uts2r	T	C	11: 121,160,880	V190A	probably benign	Het
Vmn2r77	A	C	7: 86,801,827	D307A	probably benign	Het
Xpa	G	T	4: 46,183,078	T237K	probably benign	Het
Zfp335	A	G	2: 164,893,244		probably null	Het
Zfp451	A	T	1: 33,769,893	D962E	probably damaging	Het
Zfp60	A	G	7: 27,738,405	T46A	probably damaging	Het
Zfy1	G	A	Y: 725,464	S767L	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
lovelorn	UTSW	6	97113914	missense	probably damaging	1.00
mournful	UTSW	6	97118954	splice site	probably null
predawn	UTSW	6	97135284	splice site	probably benign
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
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
R8854:Eogt	UTSW	6	97131398	nonsense	probably null
R9149:Eogt	UTSW	6	97113878	missense	probably damaging	1.00
R9258:Eogt	UTSW	6	97112082	missense	possibly damaging	0.86
R9500:Eogt	UTSW	6	97120031	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GATGTTCAGCCTATGCAGCAC -3'
(R):5'- GCTGTGGTGTCTACCCTATG -3'

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

Posted On

2019-06-26