Mutagenetix > Incidental Mutations

Incidental Mutation 'R4235:Ogt'

321100

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

OGT, 1110038P24Rik, Ogtl, 4831420N21Rik

MMRRC Submission

041052-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R4235 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

101640060-101684351 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101667525 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 434 (N434D)

Ref Sequence

ENSEMBL: ENSMUSP00000113454 (fasta)

Gene Model

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

AlphaFold

Q8CGY8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044475
AA Change: N444D

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045409
Gene: ENSMUSG00000034160
AA Change: N444D

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: N434D

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

SMART Domains

Protein: ENSMUSP00000113454
Gene: ENSMUSG00000034160
AA Change: N434D

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

Meta Mutation Damage Score

0.1552

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (68/70)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
5730596B20Rik	G	T	6: 52,178,961		probably benign	Het
9530053A07Rik	T	A	7: 28,156,648	D1953E	probably damaging	Het
Akap6	T	A	12: 53,139,671	N1289K	probably damaging	Het
Arhgap21	A	G	2: 20,887,137	V161A	probably damaging	Het
Arhgef18	T	C	8: 3,450,317	I541T	possibly damaging	Het
Atp7b	A	G	8: 22,011,023	Y955H	possibly damaging	Het
Bnc2	A	G	4: 84,293,514	V231A	probably damaging	Het
Bod1l	A	G	5: 41,821,455	S839P	probably damaging	Het
Casp8	T	A	1: 58,833,698	H264Q	possibly damaging	Het
Cc2d1b	A	T	4: 108,625,352		probably benign	Het
Cpne6	A	T	14: 55,513,600		probably benign	Het
Ddx1	C	T	12: 13,223,857	V590I	possibly damaging	Het
Dgkd	T	A	1: 87,931,982	L774*	probably null	Het
Fbxl2	T	A	9: 113,989,163	N205I	probably benign	Het
Fkbp15	A	T	4: 62,336,456	I269K	probably benign	Het
Gm13023	G	C	4: 143,794,774	C320S	probably damaging	Het
Gm26678	T	C	3: 54,633,083		noncoding transcript	Het
Has1	G	T	17: 17,850,036	R208S	possibly damaging	Het
Hecw1	C	G	13: 14,317,139	A423P	probably benign	Het
Hspa12b	T	C	2: 131,139,012	V162A	probably benign	Het
Ifi208	T	G	1: 173,682,911	S211A	probably benign	Het
Ighv6-3	T	C	12: 114,391,874	E65G	probably damaging	Het
Igkv9-120	A	T	6: 68,050,333	D77V	probably benign	Het
Impg1	A	G	9: 80,345,329	L523P	probably damaging	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Kdm2a	A	G	19: 4,322,521	I932T	probably damaging	Het
Krt17	T	C	11: 100,257,868	T279A	possibly damaging	Het
Lamp1	T	C	8: 13,167,192	V67A	possibly damaging	Het
Limk1	T	C	5: 134,670,478	I142V	probably benign	Het
Mamdc2	T	C	19: 23,374,017	N182D	possibly damaging	Het
Mcpt1	G	A	14: 56,018,560		probably null	Het
Med12l	T	G	3: 59,257,223		probably null	Het
Mfsd10	G	T	5: 34,635,625	T44N	probably damaging	Het
Mrps27	T	C	13: 99,405,041	S218P	probably damaging	Het
Mrps30	T	C	13: 118,386,840	D132G	probably damaging	Het
Neil2	A	C	14: 63,191,841	M1R	probably null	Het
Nelfcd	T	C	2: 174,427,048	F587L	probably damaging	Het
Nfil3	T	C	13: 52,968,799	D23G	probably benign	Het
Nit2	T	C	16: 57,157,160	K169R	probably benign	Het
Nxt1	T	C	2: 148,675,347	S3P	probably benign	Het
Olfr679	T	A	7: 105,085,787	S24T	possibly damaging	Het
Pcdhga5	A	G	18: 37,695,948	D483G	possibly damaging	Het
Ralgapa1	C	T	12: 55,640,644	R2019Q	probably damaging	Het
Rsl1	T	C	13: 67,177,162		probably null	Het
Sobp	G	A	10: 43,022,900	H230Y	probably damaging	Het
Sptan1	A	G	2: 30,026,588	E2096G	probably damaging	Het
Tie1	G	T	4: 118,478,405	S797*	probably null	Het
Tmem266	T	C	9: 55,418,107	I186T	probably damaging	Het
Tmem38b	T	C	4: 53,840,710	C66R	probably damaging	Het
Tnfaip6	T	C	2: 52,050,864	F139S	probably damaging	Het
Tnrc6a	T	C	7: 123,171,680	S898P	probably benign	Het
Trim24	A	G	6: 37,964,740	D911G	probably damaging	Het
Tyw5	T	C	1: 57,388,488		probably benign	Het
Ubr3	C	T	2: 70,016,385	Q1651*	probably null	Het
Unc13c	T	A	9: 73,530,952	I1943F	possibly damaging	Het
Usp47	T	A	7: 112,110,048	S1334T	probably damaging	Het
Vmn1r215	T	A	13: 23,075,931	V47E	probably benign	Het
Vmn1r224	T	A	17: 20,419,362	M67K	possibly damaging	Het
Wdfy3	T	A	5: 101,922,634		probably null	Het
Zfc3h1	T	C	10: 115,418,799	Y1433H	probably benign	Het

Other mutations in Ogt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0883:Ogt	UTSW	X	101644199	splice site	probably benign
R1688:Ogt	UTSW	X	101655690	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGTTATACTCGTGCCATCC -3'
(R):5'- AAAGCTGCCCTATGACTGCC -3'

Sequencing Primer
(F):5'- ATACTCGTGCCATCCAGATTAATC -3'
(R):5'- AACACTGTCTTGTCTCTAAACAGGC -3'

Posted On

2015-06-12