Mutagenetix > Incidental Mutation

Incidental Mutation 'R1688:Ogt'

189540

Institutional Source

Beutler Lab

Gene Symbol

Ogt

Ensembl Gene

ENSMUSG00000034160

Gene Name

O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)

Synonyms

4831420N21Rik, Ogtl, OGT, 1110038P24Rik

MMRRC Submission

039721-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R1688 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

100683666-100727957 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100699296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 190 (V190I)

Ref Sequence

ENSEMBL: ENSMUSP00000113454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044475] [ENSMUST00000119299]

AlphaFold

Q8CGY8

Predicted Effect

probably damaging
Transcript: ENSMUST00000044475
AA Change: V200I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045409
Gene: ENSMUSG00000034160
AA Change: V200I

Domain	Start	End	E-Value	Type
TPR	21	54	9.73e1	SMART
TPR	89	122	7.1e-10	SMART
TPR	123	156	1.11e-2	SMART
TPR	157	190	5.64e-4	SMART
TPR	191	224	1.18e-6	SMART
TPR	225	258	2e-4	SMART
TPR	259	292	6.33e-7	SMART
TPR	293	326	4.48e-7	SMART
TPR	327	360	3.64e-7	SMART
TPR	361	394	7.8e-7	SMART
TPR	395	428	7.27e-7	SMART
TPR	429	462	2.91e-6	SMART
Pfam:Glyco_transf_41	556	1024	1.1e-258	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119299
AA Change: V190I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113454
Gene: ENSMUSG00000034160
AA Change: V190I

Domain	Start	End	E-Value	Type
TPR	79	112	7.1e-10	SMART
TPR	113	146	1.11e-2	SMART
TPR	147	180	5.64e-4	SMART
TPR	181	214	1.18e-6	SMART
TPR	215	248	2e-4	SMART
TPR	249	282	6.33e-7	SMART
TPR	283	316	4.48e-7	SMART
TPR	317	350	3.64e-7	SMART
TPR	351	384	7.8e-7	SMART
TPR	385	418	7.27e-7	SMART
TPR	419	452	2.91e-6	SMART
Pfam:Glyco_transf_41	546	1014	2.6e-280	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153979

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155713

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155792

Meta Mutation Damage Score

0.1485

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosyltransferase that catalyzes the addition of a single N-acetylglucosamine in O-glycosidic linkage to serine or threonine residues. Since both phosphorylation and glycosylation compete for similar serine or threonine residues, the two processes may compete for sites, or they may alter the substrate specificity of nearby sites by steric or electrostatic effects. The protein contains multiple tetratricopeptide repeats that are required for optimal recognition of substrates. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Conditional deletion of this gene results in cell death in hemizygous and homozygous cells. Following germline conditional deletion only females inheriting the deletion paternally survive. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	C	13: 61,002,695 (GRCm39)	T20A	probably benign	Het
Acaca	T	G	11: 84,129,722 (GRCm39)	V359G	probably damaging	Het
Adgb	G	A	10: 10,226,061 (GRCm39)	R1359*	probably null	Het
Aggf1	T	C	13: 95,501,275 (GRCm39)	E369G	probably damaging	Het
Alkbh8	T	A	9: 3,382,765 (GRCm39)	D418E	probably damaging	Het
Alox8	T	C	11: 69,080,732 (GRCm39)	D203G	probably benign	Het
Ank	A	G	15: 27,557,320 (GRCm39)	D168G	probably damaging	Het
Ap5m1	A	G	14: 49,318,291 (GRCm39)		probably null	Het
Arhgap45	A	G	10: 79,864,929 (GRCm39)	Y964C	probably damaging	Het
Arhgef2	A	G	3: 88,547,607 (GRCm39)	D571G	probably benign	Het
Bdh2	A	T	3: 135,007,399 (GRCm39)	Y223F	possibly damaging	Het
Bin1	T	C	18: 32,552,988 (GRCm39)		probably benign	Het
Bin1	G	A	18: 32,558,025 (GRCm39)		probably benign	Het
Cacna1g	T	A	11: 94,316,779 (GRCm39)	M1514L	possibly damaging	Het
Cd109	T	A	9: 78,612,373 (GRCm39)	F1253L	probably benign	Het
Cfap57	T	A	4: 118,426,843 (GRCm39)	E1065V	probably null	Het
Chmp2b	T	C	16: 65,347,922 (GRCm39)	N14S	probably benign	Het
Cplane1	T	C	15: 8,258,093 (GRCm39)	V2113A	probably benign	Het
Crybg1	A	T	10: 43,849,794 (GRCm39)	F1660L	probably damaging	Het
Cyp2c37	T	G	19: 39,982,887 (GRCm39)		probably null	Het
Daam1	A	T	12: 71,993,820 (GRCm39)	I408F	unknown	Het
Dsc3	T	A	18: 20,099,284 (GRCm39)	D744V	probably damaging	Het
Eprs1	T	C	1: 185,117,093 (GRCm39)	F379L	probably damaging	Het
Ewsr1	G	T	11: 5,022,870 (GRCm39)	D417E	unknown	Het
Eya4	A	T	10: 22,999,759 (GRCm39)	N424K	probably damaging	Het
Gm9312	A	C	12: 24,301,920 (GRCm39)		noncoding transcript	Het
Havcr2	T	C	11: 46,370,191 (GRCm39)	I206T	probably damaging	Het
Igfbp2	T	C	1: 72,864,125 (GRCm39)		probably null	Het
Ikzf2	T	C	1: 69,581,439 (GRCm39)	K196R	possibly damaging	Het
Il12rb1	G	A	8: 71,272,046 (GRCm39)	G587R	probably damaging	Het
Immt	A	T	6: 71,833,995 (GRCm39)	H208L	probably damaging	Het
Kcnq2	C	T	2: 180,728,826 (GRCm39)	V540I	probably damaging	Het
Klk1b8	T	A	7: 43,595,229 (GRCm39)		probably benign	Het
Mc2r	T	A	18: 68,541,090 (GRCm39)	I68F	possibly damaging	Het
Neil3	T	C	8: 54,054,069 (GRCm39)	E320G	probably damaging	Het
Nell2	T	C	15: 95,329,494 (GRCm39)	T276A	probably damaging	Het
Nphp3	T	C	9: 103,880,323 (GRCm39)	L115P	probably damaging	Het
Nras	T	C	3: 102,967,689 (GRCm39)	L95P	probably benign	Het
Or11h6	A	T	14: 50,880,705 (GRCm39)	K322N	probably benign	Het
Or5t17	A	G	2: 86,832,730 (GRCm39)	Y139C	probably benign	Het
P2ry6	T	A	7: 100,587,591 (GRCm39)	H256L	probably damaging	Het
Pcbp4	T	C	9: 106,338,533 (GRCm39)	S153P	probably damaging	Het
Pclo	T	C	5: 14,838,507 (GRCm39)		probably null	Het
Per2	A	G	1: 91,351,551 (GRCm39)	L985P	probably damaging	Het
Pgap6	C	T	17: 26,337,882 (GRCm39)	A422V	possibly damaging	Het
Phip	T	C	9: 82,753,710 (GRCm39)	N1678S	probably benign	Het
Pkd1l3	A	G	8: 110,350,450 (GRCm39)	S432G	probably benign	Het
Plin4	T	A	17: 56,416,363 (GRCm39)	D47V	possibly damaging	Het
Ppp2cb	A	G	8: 34,105,480 (GRCm39)	I163M	probably benign	Het
Ptpdc1	T	C	13: 48,739,700 (GRCm39)	E577G	probably benign	Het
Ptprd	G	T	4: 75,900,921 (GRCm39)	P1063T	probably damaging	Het
Ptpru	T	C	4: 131,514,656 (GRCm39)	D866G	probably benign	Het
Rdx	T	C	9: 51,972,211 (GRCm39)		probably benign	Het
Rgsl1	C	T	1: 153,680,422 (GRCm39)	R760H	probably damaging	Het
Rhno1	A	G	6: 128,334,897 (GRCm39)	V142A	probably benign	Het
Sema5a	C	T	15: 32,669,570 (GRCm39)	T698I	probably benign	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Slc22a3	A	T	17: 12,652,694 (GRCm39)	M350K	probably damaging	Het
Spata31d1b	T	A	13: 59,863,274 (GRCm39)	S141T	possibly damaging	Het
Tada2a	T	C	11: 83,975,585 (GRCm39)		probably null	Het
Tspan10	A	G	11: 120,333,608 (GRCm39)	M2V	probably damaging	Het
Ttll11	T	C	2: 35,685,391 (GRCm39)	T566A	probably damaging	Het
Vwa8	A	G	14: 79,438,543 (GRCm39)	Q1872R	possibly damaging	Het
Zfp605	T	A	5: 110,276,907 (GRCm39)	I675N	possibly damaging	Het
Zkscan8	A	T	13: 21,704,324 (GRCm39)	N538K	possibly damaging	Het

Other mutations in Ogt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0883:Ogt	UTSW	X	100,687,805 (GRCm39)	splice site	probably benign
R4235:Ogt	UTSW	X	100,711,131 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGAACTGAACATGGTGGTTTGCAC -3'
(R):5'- GCACTGCTTCACGCTGAAGACATAC -3'

Sequencing Primer
(F):5'- AAGCGAGCCTATGCTGC -3'
(R):5'- gccaacctgagccacac -3'

Posted On

2014-05-14