Incidental Mutation 'IGL02582:Nmt1'
ID299365
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nmt1
Ensembl Gene ENSMUSG00000020936
Gene NameN-myristoyltransferase 1
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02582
Quality Score
Status
Chromosome11
Chromosomal Location103028190-103068912 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 103064799 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Cysteine at position 468 (G468C)
Ref Sequence ENSEMBL: ENSMUSP00000021314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021314]
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: 53,594,745 I92F probably benign Het
Actr3b A G 5: 25,832,413 I208V probably benign Het
Car12 T C 9: 66,713,877 V10A probably benign Het
Ccdc171 C A 4: 83,743,018 R1122S probably damaging Het
Cep97 A G 16: 55,922,176 V136A probably damaging Het
Cilp2 G T 8: 69,881,286 Q1021K probably damaging Het
Col24a1 C A 3: 145,314,486 T206N probably damaging Het
Crebbp A T 16: 4,084,277 I2328K possibly damaging Het
Ctns A G 11: 73,196,652 F16S probably benign Het
Dbf4 T C 5: 8,403,172 K276E probably benign Het
Dnase2b T A 3: 146,589,085 Q118L probably benign Het
Elf1 T C 14: 79,536,379 L10P probably damaging Het
Exosc5 T C 7: 25,665,563 probably null Het
Fam163b C T 2: 27,113,558 C28Y probably damaging Het
Fam180a G T 6: 35,313,712 A112E possibly damaging Het
Fam3b A T 16: 97,471,191 Y89* probably null Het
Gcg C T 2: 62,478,578 W77* probably null Het
Gm17472 G A 6: 42,980,898 V34I possibly damaging Het
Klhl23 T A 2: 69,824,238 C151S probably damaging Het
Mdh1b T A 1: 63,719,597 I279F probably benign Het
Mfsd11 T A 11: 116,873,875 I375N probably damaging Het
Mroh2b T A 15: 4,908,515 I206N probably damaging Het
Myo1b T C 1: 51,781,974 E456G possibly damaging Het
Nat8 G A 6: 85,830,801 Q117* probably null Het
Nlrp4g A C 9: 124,349,764 noncoding transcript Het
Nobox G T 6: 43,305,039 Q367K possibly damaging Het
Nusap1 A G 2: 119,648,989 *428W probably null Het
Olfr1261 G A 2: 89,994,312 M306I probably benign Het
Olfr533 T C 7: 140,466,647 F149L probably benign Het
Pbp2 T C 6: 135,310,149 I67V probably benign Het
Pcdhb8 T G 18: 37,355,374 M35R possibly damaging Het
Pkp1 T C 1: 135,889,926 E157G probably damaging Het
Pomgnt1 C T 4: 116,158,550 L560F probably damaging Het
Prkcz T C 4: 155,271,256 T227A probably damaging Het
Ptprd T A 4: 75,947,124 R1446S probably damaging Het
Ptprq T C 10: 107,643,999 T1137A probably benign Het
Sec22c T C 9: 121,685,564 I153V probably benign Het
Slc30a5 C T 13: 100,812,647 probably null Het
Smcr8 T C 11: 60,778,895 S290P probably benign Het
Stambpl1 T G 19: 34,235,212 L261V probably benign Het
Stk38l T C 6: 146,766,823 probably null Het
Themis T C 10: 28,761,547 F216L probably benign Het
Trmt1l T C 1: 151,433,785 probably benign Het
Usp17lb C A 7: 104,840,730 C330F probably damaging Het
Vmn2r120 A T 17: 57,524,724 L355H probably damaging Het
Zc3h7b T A 15: 81,769,140 C82S probably benign Het
Other mutations in Nmt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Nmt1 APN 11 103060076 critical splice acceptor site probably null
IGL02058:Nmt1 APN 11 103052290 missense probably benign 0.00
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
X0018:Nmt1 UTSW 11 103028586 missense probably benign 0.01
Z1177:Nmt1 UTSW 11 103055213 missense probably benign 0.06
Posted On2015-04-16