Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00929:Nmt1'

28537

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nmt1

Ensembl Gene

ENSMUSG00000020936

Gene Name

N-myristoyltransferase 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00929

Quality Score

Status

Chromosome

Chromosomal Location

103028190-103068912 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 103060076 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021314 (fasta)

Gene Model

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

AlphaFold

O70310

Predicted Effect

probably null
Transcript: ENSMUST00000021314

SMART Domains

Protein: ENSMUSP00000021314
Gene: ENSMUSG00000020936

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

probably null
Transcript: ENSMUST00000021314

SMART Domains

Protein: ENSMUSP00000021314
Gene: ENSMUSG00000020936

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

probably null
Transcript: ENSMUST00000021314

SMART Domains

Protein: ENSMUSP00000021314
Gene: ENSMUSG00000020936

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

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp1	A	T	12: 30,904,900	H67Q	probably damaging	Het
Ankrd13b	A	G	11: 77,472,752	S247P	probably damaging	Het
Aqp4	C	T	18: 15,393,599	G275E	probably benign	Het
Arhgef15	A	T	11: 68,954,102	L223Q	probably damaging	Het
Asb13	A	G	13: 3,649,427	Y209C	probably damaging	Het
Cdk18	A	G	1: 132,118,519		probably null	Het
Cntnap5a	G	A	1: 116,060,274		probably null	Het
Cops6	A	G	5: 138,161,386	M1V	probably null	Het
Dab2ip	A	T	2: 35,708,877	M137L	possibly damaging	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Lemd1	A	G	1: 132,256,709	D73G	probably benign	Het
Lpin1	G	A	12: 16,573,699	S228L	probably benign	Het
Mtmr9	A	G	14: 63,543,497	L48P	probably damaging	Het
Ncoa3	T	A	2: 166,051,609		probably null	Het
Ndc1	T	A	4: 107,389,497	N372K	probably benign	Het
Ndufa2	A	G	18: 36,744,175		probably benign	Het
Olfr593	A	T	7: 103,212,685	H264L	probably damaging	Het
Pcdhgb6	T	C	18: 37,743,705	Y489H	probably damaging	Het
Rttn	A	T	18: 89,028,935	K907M	probably damaging	Het
Soga3	C	A	10: 29,148,292	N401K	probably damaging	Het
Sos1	T	C	17: 80,408,596	Y979C	probably damaging	Het
Spag6l	C	T	16: 16,767,013	A424T	possibly damaging	Het
Stt3b	A	T	9: 115,266,165	I266N	probably damaging	Het
Tet3	A	G	6: 83,368,655	L1600P	probably benign	Het
Tiam1	T	A	16: 89,794,739	I1358F	probably damaging	Het
Usp37	G	T	1: 74,490,154	T122N	probably benign	Het
Vit	T	C	17: 78,579,401	S153P	probably damaging	Het

Other mutations in Nmt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5666:Nmt1	UTSW	11	103058215	nonsense	probably null
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

Posted On

2013-04-17