Mutagenetix > Incidental Mutation

Incidental Mutation 'R5666:Nmt1'

444441

Institutional Source

Beutler Lab

Gene Symbol

Nmt1

Ensembl Gene

ENSMUSG00000020936

Gene Name

N-myristoyltransferase 1

Synonyms

MMRRC Submission

043309-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5666 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103028190-103068912 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 103058215 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 299 (R299*)

Ref Sequence

ENSEMBL: ENSMUSP00000021314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021314]

AlphaFold

O70310

Predicted Effect

probably null
Transcript: ENSMUST00000021314
AA Change: R299*

SMART Domains

Protein: ENSMUSP00000021314
Gene: ENSMUSG00000020936
AA Change: R299*

Domain	Start	End	E-Value	Type
low complexity region	55	67	N/A	INTRINSIC
Pfam:NMT	137	294	6.7e-77	PFAM
Pfam:NMT_C	308	495	1.4e-85	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148795

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181125

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myristate, a rare 14-carbon saturated fatty acid, is cotranslationally attached by an amide linkage to the N-terminal glycine residue of cellular and viral proteins with diverse functions. N-myristoyltransferase (NMT; EC 2.3.1.97) catalyzes the transfer of myristate from CoA to proteins. N-myristoylation appears to be irreversible and is required for full expression of the biologic activities of several N-myristoylated proteins, including the alpha subunit of the signal-transducing guanine nucleotide-binding protein (G protein) GO (GNAO1; MIM 139311) (Duronio et al., 1992 [PubMed 1570339]).[supplied by OMIM, Nov 2008]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality between E3.5 and E7.5. Heterozygotes show partial prenatal lethality. Mice homozygous for a conditional allele knocked out in T cells exhibit reduced T cell, double positive T cell and single positive T cell numbers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	T	C	5: 99,979,209		probably benign	Het
Abce1	C	A	8: 79,690,277	E368D	probably benign	Het
Bmper	T	A	9: 23,473,463	M588K	probably damaging	Het
Bop1	T	C	15: 76,454,233	E503G	probably benign	Het
Btla	A	T	16: 45,250,419	D247V	probably damaging	Het
Cap2	T	A	13: 46,531,083		probably null	Het
Chd2	A	T	7: 73,441,717	I1592K	probably benign	Het
Chd3	T	C	11: 69,353,351	E1202G	possibly damaging	Het
Cmya5	T	C	13: 93,045,949	I3568V	possibly damaging	Het
Col4a4	A	G	1: 82,485,579		probably null	Het
Cpxm2	C	T	7: 132,054,896	E546K	probably benign	Het
Cyp2j5	C	T	4: 96,658,693	V195I	probably benign	Het
Ddb2	C	T	2: 91,212,581	V353M	probably damaging	Het
Dscam	G	A	16: 96,718,164	T791I	probably benign	Het
Dtd2	T	A	12: 51,999,860	L65F	probably damaging	Het
E2f1	T	A	2: 154,569,181		probably benign	Het
Ephb3	A	G	16: 21,222,491	N732S	probably benign	Het
Fkbp10	G	T	11: 100,423,526	W384L	probably damaging	Het
Foxm1	C	T	6: 128,373,167	S339L	possibly damaging	Het
Fzd6	A	T	15: 39,031,115	R225S	probably benign	Het
Gfpt1	A	T	6: 87,053,813	I60F	possibly damaging	Het
Glce	A	G	9: 62,060,511	S453P	probably damaging	Het
Gm38100	C	T	1: 175,921,613	T415M	probably damaging	Het
Gm4787	G	A	12: 81,378,031	T451I	probably benign	Het
Hs2st1	A	T	3: 144,569,793	V22E	probably damaging	Het
Hspa9	T	C	18: 34,954,247	I2V	probably null	Het
Ikzf2	A	G	1: 69,577,900	V96A	probably benign	Het
Ilkap	T	C	1: 91,391,141	T38A	probably benign	Het
Lpin3	A	G	2: 160,897,330	T353A	probably benign	Het
Myh1	T	A	11: 67,221,352	I1744N	probably benign	Het
Nadsyn1	C	T	7: 143,807,431	G335S	probably damaging	Het
Ndc1	T	C	4: 107,389,526	V382A	possibly damaging	Het
Ndufaf4	A	T	4: 24,898,636	D64V	probably damaging	Het
Nfe2l2	T	C	2: 75,677,118	T213A	probably benign	Het
Nkain4	A	G	2: 180,943,202	L73P	probably damaging	Het
Olfr1271	T	C	2: 90,265,964	I155M	probably benign	Het
Olfr1373	A	C	11: 52,144,698	Y277*	probably null	Het
Olfr173	G	A	16: 58,797,061	P262S	possibly damaging	Het
Olfr352	T	A	2: 36,870,389	D274E	probably benign	Het
Padi2	G	T	4: 140,949,231	R560L	possibly damaging	Het
Palmd	T	C	3: 116,924,101	N249S	possibly damaging	Het
Pde1c	A	C	6: 56,126,857		probably null	Het
Pdgfra	T	C	5: 75,173,495	S410P	probably benign	Het
Phldb1	T	C	9: 44,715,781	M456V	probably damaging	Het
Pla2g2d	T	A	4: 138,780,280	C82S	probably damaging	Het
Rgs21	A	G	1: 144,536,942	V48A	probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Slc4a2	G	T	5: 24,434,838	V506L	probably damaging	Het
Slc7a4	A	G	16: 17,575,951		probably benign	Het
Sptbn5	C	G	2: 120,085,567		probably benign	Het
Sstr2	T	A	11: 113,624,713	W153R	probably damaging	Het
Steap2	C	T	5: 5,673,681	V400I	probably benign	Het
Syne2	G	A	12: 75,950,959	G2236D	probably benign	Het
Tas2r130	T	C	6: 131,630,379	N151S	possibly damaging	Het
Tex52	T	C	6: 128,375,555	S13P	probably benign	Het
Tmprss13	A	G	9: 45,344,955	I456V	probably damaging	Het
Trim24	T	C	6: 37,965,601	F946S	probably benign	Het
Vmn2r10	A	T	5: 108,999,044	Y459*	probably null	Het
Vwa1	A	G	4: 155,774,465	L13P	probably damaging	Het
Zfp648	C	A	1: 154,204,217	Q41K	probably benign	Het

Other mutations in Nmt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00929:Nmt1	APN	11	103060076	critical splice acceptor site	probably null
IGL02058:Nmt1	APN	11	103052290	missense	probably benign	0.00
IGL02582:Nmt1	APN	11	103064799	missense	possibly damaging	0.94
cropped	UTSW	11	103056459	missense	probably damaging	1.00
R0092:Nmt1	UTSW	11	103046493	missense	probably damaging	1.00
R1401:Nmt1	UTSW	11	103057481	missense	probably damaging	0.99
R1827:Nmt1	UTSW	11	103064838	missense	probably damaging	1.00
R1878:Nmt1	UTSW	11	103052251	missense	probably benign
R2199:Nmt1	UTSW	11	103063856	missense	probably damaging	1.00
R3930:Nmt1	UTSW	11	103052233	missense	probably benign	0.37
R4373:Nmt1	UTSW	11	103043200	missense	probably damaging	0.99
R4648:Nmt1	UTSW	11	103063917	missense	probably damaging	1.00
R6908:Nmt1	UTSW	11	103058254	missense	possibly damaging	0.92
R7315:Nmt1	UTSW	11	103060183	missense	probably benign
R7473:Nmt1	UTSW	11	103046400	missense	probably benign	0.05
R7504:Nmt1	UTSW	11	103056459	missense	probably damaging	1.00
R8548:Nmt1	UTSW	11	103043226	missense	possibly damaging	0.80
R8913:Nmt1	UTSW	11	103057445	missense	probably damaging	1.00
X0018:Nmt1	UTSW	11	103028586	missense	probably benign	0.01
Z1177:Nmt1	UTSW	11	103055213	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- ATGGCTTCTGAAATGGAAGAGC -3'
(R):5'- AACCTTTGTGGACAGTAAGGC -3'

Sequencing Primer
(F):5'- CTTCTGAAATGGAAGAGCAGGGAG -3'
(R):5'- CCTTTGTGGACAGTAAGGCACAAG -3'

Posted On

2016-11-09