Mutagenetix > Incidental Mutation

Incidental Mutation 'R7221:Eogt'

561811

Institutional Source

Beutler Lab

Gene Symbol

Eogt

Ensembl Gene

ENSMUSG00000035245

Gene Name

EGF domain specific O-linked N-acetylglucosamine transferase

Synonyms

A130022J15Rik

MMRRC Submission

045293-MU

Accession Numbers

Essential gene?

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

Stock #

R7221 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97086985-97126143 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97089685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 465 (Y465C)

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: Y465C

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

SMART Domains

Protein: ENSMUSP00000061610
Gene: ENSMUSG00000035245
AA Change: Y465C

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

Predicted Effect

unknown
Transcript: ENSMUST00000113387
AA Change: T29A

SMART Domains

Protein: ENSMUSP00000109014
Gene: ENSMUSG00000035245
AA Change: T29A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (77/77)

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
Aadacl2fm1	A	G	3: 59,836,354 (GRCm39)		probably benign	Het
Abr	A	C	11: 76,313,987 (GRCm39)	M720R	probably benign	Het
Acad10	G	A	5: 121,768,273 (GRCm39)	T761M	probably damaging	Het
Agxt	G	T	1: 93,065,623 (GRCm39)	G164V	possibly damaging	Het
Ankar	C	T	1: 72,689,390 (GRCm39)	G1247D	probably damaging	Het
Bptf	A	C	11: 106,945,658 (GRCm39)	L2527R	probably damaging	Het
Brinp2	T	C	1: 158,094,117 (GRCm39)	H195R	possibly damaging	Het
Cacna2d4	G	T	6: 119,213,624 (GRCm39)	R14S	probably benign	Het
Cep126	A	T	9: 8,100,988 (GRCm39)	C515*	probably null	Het
Chia1	A	T	3: 106,039,236 (GRCm39)	N442I	probably damaging	Het
Clasp2	A	G	9: 113,681,825 (GRCm39)	D327G	probably damaging	Het
Cnbd2	T	C	2: 156,215,581 (GRCm39)	F519L	probably benign	Het
Cntrl	T	A	2: 35,041,869 (GRCm39)	F1214I	possibly damaging	Het
Cul9	A	T	17: 46,839,491 (GRCm39)	M829K	probably damaging	Het
Cyp4b1	T	C	4: 115,493,175 (GRCm39)	Q223R	possibly damaging	Het
Defb37	A	T	8: 19,040,988 (GRCm39)	M1K	probably null	Het
Dnah7c	A	T	1: 46,494,937 (GRCm39)	Q55L	possibly damaging	Het
Efcab3	A	G	11: 104,791,432 (GRCm39)	N2882S	probably benign	Het
Eif2b4	A	T	5: 31,345,131 (GRCm39)	D463E	possibly damaging	Het
Elapor1	T	G	3: 108,382,317 (GRCm39)	D232A	possibly damaging	Het
Elovl1	C	T	4: 118,288,811 (GRCm39)	H167Y	probably damaging	Het
Emb	T	A	13: 117,404,013 (GRCm39)	L255Q	probably damaging	Het
Erc2	A	G	14: 27,375,115 (GRCm39)	H111R	probably damaging	Het
Fam234b	T	C	6: 135,205,529 (GRCm39)	F498S	probably damaging	Het
Fgfr3	GAGGCTGGCAGCGTGTACGCAGGC	GAGGC	5: 33,890,092 (GRCm39)		probably null	Het
Flrt3	T	A	2: 140,503,090 (GRCm39)	E179D	probably damaging	Het
Fndc3a	T	C	14: 72,793,597 (GRCm39)	R993G	probably benign	Het
Gm14325	T	C	2: 177,476,403 (GRCm39)	T14A	probably damaging	Het
Gm5464	T	A	14: 67,106,681 (GRCm39)	V106D	unknown	Het
Gpatch11	T	A	17: 79,149,546 (GRCm39)	I182N	possibly damaging	Het
Grm6	A	G	11: 50,753,870 (GRCm39)	R725G	probably damaging	Het
Hap1	A	T	11: 100,239,655 (GRCm39)	M588K	probably benign	Het
Icam2	A	G	11: 106,273,268 (GRCm39)	F15L	probably benign	Het
Ints8	A	G	4: 11,225,613 (GRCm39)	M648T	probably benign	Het
Ipo11	A	T	13: 107,029,065 (GRCm39)	L296Q	probably damaging	Het
Kirrel1	G	A	3: 86,993,704 (GRCm39)	Q518*	probably null	Het
Krt18	G	T	15: 101,937,967 (GRCm39)	D155Y	possibly damaging	Het
Lctl	A	T	9: 64,026,217 (GRCm39)	K91*	probably null	Het
Marf1	C	A	16: 13,960,349 (GRCm39)	R565L	probably damaging	Het
Med13	A	T	11: 86,178,921 (GRCm39)	D1458E	probably benign	Het
Mroh8	T	A	2: 157,071,837 (GRCm39)	Y556F	probably benign	Het
Muc16	C	T	9: 18,553,495 (GRCm39)	G4266D	probably benign	Het
Nsrp1	A	T	11: 76,939,249 (GRCm39)	F182I	probably damaging	Het
Obox3	A	T	7: 15,359,983 (GRCm39)	Y229N	probably benign	Het
Or11h7	A	T	14: 50,891,528 (GRCm39)	Y278F	probably damaging	Het
Or2b2	T	C	13: 21,887,272 (GRCm39)	S34P	probably damaging	Het
Or2b4	A	G	17: 38,116,452 (GRCm39)	K139E	probably benign	Het
Or4a74	T	C	2: 89,440,272 (GRCm39)	Y58C	probably damaging	Het
Or4c108	A	G	2: 88,803,497 (GRCm39)	V246A	probably damaging	Het
Or4p22	T	A	2: 88,317,973 (GRCm39)	V299D	probably damaging	Het
Or8d1	A	G	9: 38,766,538 (GRCm39)	Y60C	probably damaging	Het
Pabpc2	T	A	18: 39,906,963 (GRCm39)	V76D	possibly damaging	Het
Parp9	T	C	16: 35,774,071 (GRCm39)	W348R	probably benign	Het
Pdp1	T	C	4: 11,961,004 (GRCm39)	T455A	probably damaging	Het
Phactr2	A	C	10: 13,122,783 (GRCm39)	D446E	possibly damaging	Het
Pi4kb	T	C	3: 94,901,500 (GRCm39)	L389P	probably damaging	Het
Pla2g4f	C	T	2: 120,131,476 (GRCm39)	R749H	probably benign	Het
Plec	A	G	15: 76,059,974 (GRCm39)	V3321A	probably damaging	Het
Plod2	T	C	9: 92,466,580 (GRCm39)	V180A	probably damaging	Het
Plppr5	A	G	3: 117,414,618 (GRCm39)	I80V	probably damaging	Het
Potefam3d	T	G	8: 69,975,316 (GRCm39)	D50A	probably benign	Het
Rubcn	T	C	16: 32,687,293 (GRCm39)		probably null	Het
Sacs	T	C	14: 61,446,255 (GRCm39)	V2767A	probably damaging	Het
Selenbp2	C	G	3: 94,611,133 (GRCm39)	Y414*	probably null	Het
Slc45a4	A	T	15: 73,458,259 (GRCm39)	M430K	probably benign	Het
Smg1	A	G	7: 117,782,020 (GRCm39)	L1145P	possibly damaging	Het
Spns2	A	G	11: 72,347,742 (GRCm39)	V316A	probably benign	Het
Srl	T	A	16: 4,300,811 (GRCm39)	E753D	probably damaging	Het
Thada	T	C	17: 84,771,794 (GRCm39)	T23A	possibly damaging	Het
Tmem231	T	C	8: 112,660,308 (GRCm39)	T31A	probably benign	Het
Tpr	C	T	1: 150,321,929 (GRCm39)	T2321M	possibly damaging	Het
Ttn	T	A	2: 76,772,195 (GRCm39)	N2615I	unknown	Het
Vmn1r41	A	G	6: 89,724,034 (GRCm39)	I192V	probably benign	Het
Vmn2r83	A	T	10: 79,316,001 (GRCm39)	T466S	probably benign	Het
Vnn1	A	G	10: 23,770,952 (GRCm39)	D60G	probably benign	Het
Wiz	G	A	17: 32,578,139 (GRCm39)	P449S	probably benign	Het
Zic1	A	G	9: 91,246,785 (GRCm39)	S96P	probably damaging	Het
Zw10	T	A	9: 48,981,012 (GRCm39)	S471T	probably benign	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
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'- GGCTGCTGTATGTAAACTGATG -3'
(R):5'- CACCCTGAGAATGTGTGTAAAATTC -3'

Sequencing Primer
(F):5'- GCTGCTGTATGTAAACTGATGTAAGC -3'
(R):5'- ATGTGTGTAAAATTCTTTCTCTCCTG -3'

Posted On

2019-06-26