Mutagenetix > Incidental Mutation

Incidental Mutation 'R9258:Eogt'

702011

Institutional Source

Beutler Lab

Gene Symbol

Eogt

Ensembl Gene

ENSMUSG00000035245

Gene Name

EGF domain specific O-linked N-acetylglucosamine transferase

Synonyms

A130022J15Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9258 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97086985-97126143 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97089043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 521 (K521M)

Ref Sequence

ENSEMBL: ENSMUSP00000061610 (fasta)

Gene Model

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

AlphaFold

Q8BYW9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054344
AA Change: K521M

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245
AA Change: K521M

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: 99.8%
20x: 99.3%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	T	A	8: 124,709,347 (GRCm39)	Q69L	probably benign	Het
Abtb2	A	C	2: 103,546,410 (GRCm39)	Q930P	probably null	Het
Adam18	G	A	8: 25,158,574 (GRCm39)	T73I	probably benign	Het
Ankrd54	A	T	15: 78,946,996 (GRCm39)	M1K	probably null	Het
Anks1	T	C	17: 28,277,400 (GRCm39)	V1106A	probably damaging	Het
Aox1	A	T	1: 58,351,515 (GRCm39)	I701F	probably damaging	Het
Arfgef3	C	T	10: 18,465,387 (GRCm39)	R2152H	probably damaging	Het
Arnt2	C	T	7: 84,010,798 (GRCm39)	G37E	probably damaging	Het
Arpp21	G	A	9: 111,953,956 (GRCm39)	T581M	probably benign	Het
Arvcf	A	G	16: 18,216,957 (GRCm39)	N428S	probably damaging	Het
C2cd3	A	G	7: 100,098,026 (GRCm39)	E1471G		Het
Cadm1	A	G	9: 47,710,730 (GRCm39)	K211R	probably benign	Het
Cdh6	A	G	15: 13,064,462 (GRCm39)	S143P	probably damaging	Het
Cep152	G	A	2: 125,421,356 (GRCm39)	Q1125*	probably null	Het
Cfap54	A	C	10: 92,770,960 (GRCm39)	S2095A	unknown	Het
Col12a1	T	C	9: 79,613,645 (GRCm39)	T67A	probably benign	Het
Col6a3	T	C	1: 90,700,703 (GRCm39)	N3216S	unknown	Het
Cpeb2	T	A	5: 43,391,455 (GRCm39)	L217Q		Het
Ctbp2	A	T	7: 132,597,021 (GRCm39)	N119K	probably damaging	Het
Des	G	T	1: 75,340,289 (GRCm39)	V399L	probably benign	Het
Dnah2	G	T	11: 69,368,079 (GRCm39)	H1753Q	probably damaging	Het
Dnajc6	T	C	4: 101,475,813 (GRCm39)	V562A	probably benign	Het
Dusp13b	T	C	14: 21,791,155 (GRCm39)	D99G	probably benign	Het
Ehd3	A	G	17: 74,127,561 (GRCm39)	I165V	probably benign	Het
Eme2	C	T	17: 25,112,053 (GRCm39)	V241M	probably damaging	Het
Eml5	A	G	12: 98,810,376 (GRCm39)	L860P	possibly damaging	Het
Epb41l5	T	C	1: 119,506,701 (GRCm39)	T489A	probably benign	Het
Fmo5	G	T	3: 97,558,802 (GRCm39)	V421L	probably benign	Het
Gabpa	C	T	16: 84,653,403 (GRCm39)	P268S	probably benign	Het
Gas2l3	G	T	10: 89,262,315 (GRCm39)	H136N	probably benign	Het
Gm5592	C	T	7: 40,938,407 (GRCm39)	A563V	possibly damaging	Het
Gpn3	A	T	5: 122,519,508 (GRCm39)	D205V	probably benign	Het
H13	T	C	2: 152,522,999 (GRCm39)	L104S	probably damaging	Het
H2-Q4	T	A	17: 35,599,105 (GRCm39)	V125E	probably benign	Het
Ifih1	A	G	2: 62,442,242 (GRCm39)	F374S	probably damaging	Het
Ildr2	A	G	1: 166,131,158 (GRCm39)	D338G	probably damaging	Het
Kmt2b	A	T	7: 30,281,893 (GRCm39)	N1162K	probably null	Het
Lmntd1	T	C	6: 145,359,256 (GRCm39)	D298G	probably damaging	Het
Lrrc32	T	A	7: 98,148,345 (GRCm39)	V375E	probably benign	Het
Lrrc37a	A	C	11: 103,393,022 (GRCm39)	I801R	probably benign	Het
Matcap1	A	G	8: 106,008,775 (GRCm39)	V414A	probably damaging	Het
Mgam	A	G	6: 40,657,121 (GRCm39)	E935G	probably benign	Het
Mms22l	A	T	4: 24,588,238 (GRCm39)	T917S	probably damaging	Het
Myo3a	A	T	2: 22,467,545 (GRCm39)	E1204D	possibly damaging	Het
Nav3	T	A	10: 109,550,243 (GRCm39)	E1829V	probably damaging	Het
Nccrp1	C	T	7: 28,245,632 (GRCm39)	G150D	probably damaging	Het
Nlrp4b	G	T	7: 10,444,087 (GRCm39)	W12L	probably damaging	Het
Nmb	T	C	7: 80,554,001 (GRCm39)	T71A	possibly damaging	Het
Ogfod2	T	A	5: 124,250,505 (GRCm39)	H35Q	probably benign	Het
Ola1	A	T	2: 72,929,732 (GRCm39)	S290R	probably damaging	Het
Or1e30	T	G	11: 73,678,281 (GRCm39)	N172K	probably benign	Het
Or4k47	A	T	2: 111,452,329 (GRCm39)	I30N	possibly damaging	Het
Or51v15-ps1	T	G	7: 103,278,543 (GRCm39)	Y208S	unknown	Het
Or52e2	C	A	7: 102,804,409 (GRCm39)	E182*	probably null	Het
Or5p68	T	G	7: 107,945,886 (GRCm39)	T101P	probably benign	Het
Or9i14	A	T	19: 13,792,099 (GRCm39)	L285*	probably null	Het
Pcsk9	T	C	4: 106,316,047 (GRCm39)	D132G	possibly damaging	Het
Pkhd1	A	T	1: 20,444,174 (GRCm39)	V2296E	probably damaging	Het
Prl2c5	A	T	13: 13,365,297 (GRCm39)	I151L	probably damaging	Het
Prl3d3	A	T	13: 27,344,931 (GRCm39)	D101V	possibly damaging	Het
Prrt1	A	G	17: 34,850,120 (GRCm39)	Y178C	probably damaging	Het
Rasal1	A	T	5: 120,793,155 (GRCm39)	I87F	possibly damaging	Het
Rpgrip1l	A	T	8: 91,987,614 (GRCm39)	Y814*	probably null	Het
Rpl3l	T	G	17: 24,951,447 (GRCm39)		probably null	Het
Rrbp1	C	A	2: 143,853,161 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,483,364 (GRCm39)	S4158P	probably damaging	Het
Scube2	G	T	7: 109,398,515 (GRCm39)	S951Y	probably damaging	Het
Sec14l1	T	C	11: 117,041,002 (GRCm39)	V396A	probably benign	Het
Sh3gl1	T	A	17: 56,325,911 (GRCm39)	K173*	probably null	Het
Shank3	A	T	15: 89,388,521 (GRCm39)	E371V	probably damaging	Het
Slc25a24	A	G	3: 109,066,751 (GRCm39)	T302A	probably damaging	Het
Slc25a41	A	T	17: 57,348,580 (GRCm39)	H4Q	probably benign	Het
Slc45a1	A	T	4: 150,723,071 (GRCm39)	V271D	possibly damaging	Het
Smad6	A	T	9: 63,927,573 (GRCm39)	L245Q	probably damaging	Het
Smad7	C	A	18: 75,527,317 (GRCm39)	Q388K	probably damaging	Het
Snx29	G	T	16: 11,532,799 (GRCm39)	D348Y	possibly damaging	Het
Son	A	T	16: 91,474,570 (GRCm39)	H2418L	unknown	Het
Sppl3	G	A	5: 115,233,922 (GRCm39)	V331M	probably damaging	Het
St13	T	G	15: 81,272,569 (GRCm39)	T92P	probably benign	Het
St3gal4	A	G	9: 34,963,643 (GRCm39)	W222R	probably damaging	Het
Stk32a	T	A	18: 43,444,999 (GRCm39)	N264K	probably benign	Het
Stoml3	T	A	3: 53,405,397 (GRCm39)	I26N	possibly damaging	Het
Taf7	T	C	18: 37,776,021 (GRCm39)	E182G	probably damaging	Het
Tas2r138	A	G	6: 40,590,129 (GRCm39)	V39A	probably damaging	Het
Tbc1d12	A	G	19: 38,889,823 (GRCm39)	S418G	possibly damaging	Het
Tbr1	T	A	2: 61,642,723 (GRCm39)	C663S	probably benign	Het
Tmc5	A	T	7: 118,222,501 (GRCm39)	Y67F	probably benign	Het
Tnfsf4	A	C	1: 161,244,814 (GRCm39)	I168L	probably benign	Het
Trav5-1	T	G	14: 52,860,347 (GRCm39)	S51A	probably benign	Het
Trmt10c	A	T	16: 55,854,646 (GRCm39)	C330S	possibly damaging	Het
Trpm1	T	C	7: 63,884,713 (GRCm39)	M798T	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Unc13d	CATGCC	CATGCCTCCGATGCC	11: 115,959,007 (GRCm39)		probably benign	Het
Vmn1r199	A	G	13: 22,566,822 (GRCm39)	T39A	possibly damaging	Het
Vmn1r74	T	A	7: 11,580,999 (GRCm39)	C100S	possibly damaging	Het
Vmn2r77	T	A	7: 86,452,302 (GRCm39)	I494K	possibly damaging	Het
Wdr17	G	A	8: 55,112,654 (GRCm39)	Q816*	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
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
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
R9500:Eogt	UTSW	6	97,096,992 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CATCTCCTGGAGGTGTGCTTTC -3'
(R):5'- TATAGAAAGACACACCCTTCGG -3'

Sequencing Primer
(F):5'- CTCAGGCAAGAGGATCACTAGTTC -3'
(R):5'- GGTGACTCCGGGATTTTGTTC -3'

Posted On

2022-03-25