Incidental Mutation 'IGL02582:Nmt1'
ID 299365
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 # IGL02582
Quality Score
Status
Chromosome 11
Chromosomal Location 102919163-102959734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 102955625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 468 (G468C)
Ref Sequence ENSEMBL: ENSMUSP00000021314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021314]
AlphaFold O70310
Predicted Effect possibly damaging
Transcript: ENSMUST00000021314
AA Change: G468C

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021314
Gene: ENSMUSG00000020936
AA Change: G468C

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: 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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 T A 9: 53,506,045 (GRCm39) I92F probably benign Het
Actr3b A G 5: 26,037,411 (GRCm39) I208V probably benign Het
Car12 T C 9: 66,621,159 (GRCm39) V10A probably benign Het
Ccdc171 C A 4: 83,661,255 (GRCm39) R1122S probably damaging Het
Cep97 A G 16: 55,742,539 (GRCm39) V136A probably damaging Het
Cilp2 G T 8: 70,333,936 (GRCm39) Q1021K probably damaging Het
Col24a1 C A 3: 145,020,247 (GRCm39) T206N probably damaging Het
Crebbp A T 16: 3,902,141 (GRCm39) I2328K possibly damaging Het
Ctns A G 11: 73,087,478 (GRCm39) F16S probably benign Het
Dbf4 T C 5: 8,453,172 (GRCm39) K276E probably benign Het
Dnase2b T A 3: 146,294,840 (GRCm39) Q118L probably benign Het
Elf1 T C 14: 79,773,819 (GRCm39) L10P probably damaging Het
Exosc5 T C 7: 25,364,988 (GRCm39) probably null Het
Fam163b C T 2: 27,003,570 (GRCm39) C28Y probably damaging Het
Fam180a G T 6: 35,290,647 (GRCm39) A112E possibly damaging Het
Fam3b A T 16: 97,272,391 (GRCm39) Y89* probably null Het
Gcg C T 2: 62,308,922 (GRCm39) W77* probably null Het
Gm17472 G A 6: 42,957,832 (GRCm39) V34I possibly damaging Het
Klhl23 T A 2: 69,654,582 (GRCm39) C151S probably damaging Het
Mdh1b T A 1: 63,758,756 (GRCm39) I279F probably benign Het
Mfsd11 T A 11: 116,764,701 (GRCm39) I375N probably damaging Het
Mroh2b T A 15: 4,937,997 (GRCm39) I206N probably damaging Het
Myo1b T C 1: 51,821,133 (GRCm39) E456G possibly damaging Het
Nat8 G A 6: 85,807,783 (GRCm39) Q117* probably null Het
Nlrp4g A C 9: 124,349,764 (GRCm38) noncoding transcript Het
Nobox G T 6: 43,281,973 (GRCm39) Q367K possibly damaging Het
Nusap1 A G 2: 119,479,470 (GRCm39) *428W probably null Het
Or12j4 T C 7: 140,046,560 (GRCm39) F149L probably benign Het
Or4c126 G A 2: 89,824,656 (GRCm39) M306I probably benign Het
Pbp2 T C 6: 135,287,147 (GRCm39) I67V probably benign Het
Pcdhb8 T G 18: 37,488,427 (GRCm39) M35R possibly damaging Het
Pkp1 T C 1: 135,817,664 (GRCm39) E157G probably damaging Het
Pomgnt1 C T 4: 116,015,747 (GRCm39) L560F probably damaging Het
Prkcz T C 4: 155,355,713 (GRCm39) T227A probably damaging Het
Ptprd T A 4: 75,865,361 (GRCm39) R1446S probably damaging Het
Ptprq T C 10: 107,479,860 (GRCm39) T1137A probably benign Het
Sec22c T C 9: 121,514,630 (GRCm39) I153V probably benign Het
Slc30a5 C T 13: 100,949,155 (GRCm39) probably null Het
Smcr8 T C 11: 60,669,721 (GRCm39) S290P probably benign Het
Stambpl1 T G 19: 34,212,612 (GRCm39) L261V probably benign Het
Stk38l T C 6: 146,668,321 (GRCm39) probably null Het
Themis T C 10: 28,637,543 (GRCm39) F216L probably benign Het
Trmt1l T C 1: 151,309,536 (GRCm39) probably benign Het
Usp17lb C A 7: 104,489,937 (GRCm39) C330F probably damaging Het
Vmn2r120 A T 17: 57,831,724 (GRCm39) L355H probably damaging Het
Zc3h7b T A 15: 81,653,341 (GRCm39) C82S probably benign Het
Other mutations in Nmt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Nmt1 APN 11 102,950,902 (GRCm39) critical splice acceptor site probably null
IGL02058:Nmt1 APN 11 102,943,116 (GRCm39) missense probably benign 0.00
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 2015-04-16