Incidental Mutation 'IGL02058:Nmt1'
ID 185309
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 # IGL02058
Quality Score
Status
Chromosome 11
Chromosomal Location 102919163-102959734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 102943116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 157 (T157I)
Ref Sequence ENSEMBL: ENSMUSP00000021314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021314]
AlphaFold O70310
Predicted Effect probably benign
Transcript: ENSMUST00000021314
AA Change: T157I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000021314
Gene: ENSMUSG00000020936
AA Change: T157I

DomainStartEndE-ValueType
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C A 2: 69,073,842 (GRCm39) A1228S probably damaging Het
Adamts12 G A 15: 11,215,696 (GRCm39) R239K probably benign Het
Akap6 A G 12: 53,187,338 (GRCm39) D1584G probably damaging Het
Asns A G 6: 7,685,184 (GRCm39) C158R probably damaging Het
Atr T C 9: 95,753,540 (GRCm39) L714P probably damaging Het
Ccdc126 G T 6: 49,311,134 (GRCm39) E47D probably benign Het
Cemip T C 7: 83,646,500 (GRCm39) S183G probably damaging Het
Cntn3 A G 6: 102,176,321 (GRCm39) probably benign Het
Cyp11b2 G T 15: 74,725,038 (GRCm39) N270K probably benign Het
Ephx2 A G 14: 66,341,173 (GRCm39) probably null Het
Fcho2 G A 13: 98,867,414 (GRCm39) T683I probably damaging Het
Grm7 G A 6: 111,335,278 (GRCm39) C563Y probably damaging Het
Hmcn1 T C 1: 150,579,932 (GRCm39) N1935S probably benign Het
Hus1b A G 13: 31,130,900 (GRCm39) L253S probably benign Het
Kmt5b T C 19: 3,843,181 (GRCm39) Y93H probably damaging Het
Krt73 A T 15: 101,710,456 (GRCm39) S93T probably benign Het
Lrp8 T C 4: 107,727,306 (GRCm39) V917A probably benign Het
Map2k6 C T 11: 110,383,409 (GRCm39) T106M probably damaging Het
Ncor1 A G 11: 62,235,463 (GRCm39) S664P probably damaging Het
Nup160 T C 2: 90,560,051 (GRCm39) S1259P probably damaging Het
Pak1 C T 7: 97,560,322 (GRCm39) A523V probably damaging Het
Parpbp A C 10: 87,979,898 (GRCm39) S19R probably benign Het
Pdzd2 G T 15: 12,376,382 (GRCm39) T1251N possibly damaging Het
Phaf1 T A 8: 105,966,341 (GRCm39) I105N probably damaging Het
Pitpnm3 A T 11: 72,010,965 (GRCm39) N22K probably benign Het
Pkn1 G T 8: 84,407,854 (GRCm39) C418* probably null Het
Pkn2 A G 3: 142,509,424 (GRCm39) F723L probably damaging Het
Pkp4 C T 2: 59,142,073 (GRCm39) R459* probably null Het
Prex1 A C 2: 166,427,103 (GRCm39) S871A probably benign Het
Ptprz1 A G 6: 23,002,502 (GRCm39) T1531A probably benign Het
Rad1 C A 15: 10,493,361 (GRCm39) Q263K probably benign Het
Sh2d6 C A 6: 72,490,961 (GRCm39) G307* probably null Het
Slc52a3 T A 2: 151,847,811 (GRCm39) N306K probably damaging Het
Spock3 A T 8: 63,698,232 (GRCm39) R195* probably null Het
Stil A G 4: 114,871,359 (GRCm39) S310G probably benign Het
Wbp1l T A 19: 46,640,959 (GRCm39) C80* probably null Het
Wnt2b A G 3: 104,854,408 (GRCm39) V350A probably benign Het
Other mutations in Nmt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Nmt1 APN 11 102,950,902 (GRCm39) critical splice acceptor site probably null
IGL02582:Nmt1 APN 11 102,955,625 (GRCm39) missense possibly damaging 0.94
cropped UTSW 11 102,947,285 (GRCm39) missense probably damaging 1.00
R0092:Nmt1 UTSW 11 102,937,319 (GRCm39) missense probably damaging 1.00
R1401:Nmt1 UTSW 11 102,948,307 (GRCm39) missense probably damaging 0.99
R1827:Nmt1 UTSW 11 102,955,664 (GRCm39) missense probably damaging 1.00
R1878:Nmt1 UTSW 11 102,943,077 (GRCm39) missense probably benign
R2199:Nmt1 UTSW 11 102,954,682 (GRCm39) missense probably damaging 1.00
R3930:Nmt1 UTSW 11 102,943,059 (GRCm39) missense probably benign 0.37
R4373:Nmt1 UTSW 11 102,934,026 (GRCm39) missense probably damaging 0.99
R4648:Nmt1 UTSW 11 102,954,743 (GRCm39) missense probably damaging 1.00
R5666:Nmt1 UTSW 11 102,949,041 (GRCm39) nonsense probably null
R6908:Nmt1 UTSW 11 102,949,080 (GRCm39) missense possibly damaging 0.92
R7315:Nmt1 UTSW 11 102,951,009 (GRCm39) missense probably benign
R7473:Nmt1 UTSW 11 102,937,226 (GRCm39) missense probably benign 0.05
R7504:Nmt1 UTSW 11 102,947,285 (GRCm39) missense probably damaging 1.00
R8548:Nmt1 UTSW 11 102,934,052 (GRCm39) missense possibly damaging 0.80
R8913:Nmt1 UTSW 11 102,948,271 (GRCm39) missense probably damaging 1.00
X0018:Nmt1 UTSW 11 102,919,412 (GRCm39) missense probably benign 0.01
Z1177:Nmt1 UTSW 11 102,946,039 (GRCm39) missense probably benign 0.06
Posted On 2014-05-07