Incidental Mutation 'R3930:Nmt1'
ID 308435
Institutional Source Beutler Lab
Gene Symbol Nmt1
Ensembl Gene ENSMUSG00000020936
Gene Name N-myristoyltransferase 1
MMRRC Submission 040917-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3930 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 102919163-102959734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102943059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 138 (V138A)
Ref Sequence ENSEMBL: ENSMUSP00000021314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021314]
AlphaFold O70310
Predicted Effect probably benign
Transcript: ENSMUST00000021314
AA Change: V138A

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000021314
Gene: ENSMUSG00000020936
AA Change: V138A

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
Meta Mutation Damage Score 0.3023 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.2%
Validation Efficiency 100% (58/58)
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 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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 C T 4: 144,396,698 (GRCm39) E345K probably damaging Het
Bpifb1 A G 2: 154,057,242 (GRCm39) N400S possibly damaging Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Crhr1 T A 11: 104,044,377 (GRCm39) S22T probably benign Het
Cyp4a10 G T 4: 115,381,980 (GRCm39) V221L probably benign Het
D1Pas1 G T 1: 186,700,477 (GRCm39) W135C probably damaging Het
Dcbld2 T C 16: 58,285,701 (GRCm39) L620P probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Dnm3 T C 1: 161,911,699 (GRCm39) D66G probably damaging Het
Fzd10 G A 5: 128,679,476 (GRCm39) V399M probably damaging Het
Gm10801 T A 2: 98,494,361 (GRCm39) I146N possibly damaging Het
Gm525 T A 11: 88,965,830 (GRCm39) probably null Het
Gpr37l1 T C 1: 135,089,100 (GRCm39) I322V probably benign Het
Grid2ip T G 5: 143,371,794 (GRCm39) S679R probably damaging Het
Gyg1 A T 3: 20,209,189 (GRCm39) S15T probably benign Het
Hace1 G A 10: 45,587,604 (GRCm39) C901Y probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hp1bp3 C T 4: 137,949,018 (GRCm39) A27V probably benign Het
Hsf5 A G 11: 87,522,508 (GRCm39) Y367C probably damaging Het
Igf2r T C 17: 12,924,716 (GRCm39) I1034V probably benign Het
Itpr1 A G 6: 108,371,802 (GRCm39) T1159A probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrrc14 T C 15: 76,597,765 (GRCm39) V165A probably benign Het
Lrrc45 C T 11: 120,609,503 (GRCm39) A422V probably benign Het
Lrrk2 T A 15: 91,651,664 (GRCm39) probably null Het
Map3k4 T C 17: 12,454,880 (GRCm39) H1370R possibly damaging Het
Mpo A G 11: 87,691,866 (GRCm39) Y433C probably damaging Het
Nfkbil1 G T 17: 35,439,932 (GRCm39) Q194K probably benign Het
Nin C T 12: 70,125,016 (GRCm39) G102E probably damaging Het
Optc T A 1: 133,828,920 (GRCm39) R176* probably null Het
Or10aa3 A T 1: 173,878,076 (GRCm39) I46F probably damaging Het
Or4c110 A G 2: 88,832,377 (GRCm39) F85S probably benign Het
Or52ae9 A C 7: 103,389,794 (GRCm39) Y218D probably damaging Het
Or6n2 T A 1: 173,897,147 (GRCm39) F94L probably damaging Het
Oxct1 T A 15: 4,066,601 (GRCm39) N72K possibly damaging Het
Plxna2 G A 1: 194,477,218 (GRCm39) A1243T probably benign Het
Rin1 G T 19: 5,103,002 (GRCm39) L430F probably benign Het
Ros1 A T 10: 52,070,944 (GRCm39) S37T possibly damaging Het
Rrp36 G T 17: 46,983,732 (GRCm39) Q27K probably damaging Het
Sez6 T C 11: 77,867,708 (GRCm39) I875T probably damaging Het
Sfrp5 T G 19: 42,190,257 (GRCm39) Y65S probably damaging Het
Slc25a54 T A 3: 109,023,820 (GRCm39) L472I probably benign Het
Slc35d3 T C 10: 19,724,605 (GRCm39) E417G probably damaging Het
Sumf2 A G 5: 129,878,820 (GRCm39) D52G probably benign Het
Sympk A G 7: 18,781,447 (GRCm39) N801S possibly damaging Het
Taf7l2 G T 10: 115,948,540 (GRCm39) Q329K possibly damaging Het
Tcstv2c G A 13: 120,616,368 (GRCm39) C69Y probably damaging Het
Tmem38b T C 4: 53,854,398 (GRCm39) F210S probably damaging Het
Tnks T A 8: 35,407,966 (GRCm39) H254L probably damaging Het
Trappc10 A T 10: 78,046,237 (GRCm39) V451E probably benign Het
Trim43a A T 9: 88,465,131 (GRCm39) I153F probably benign Het
Tulp1 T C 17: 28,572,683 (GRCm39) N213S probably damaging Het
Ubr1 T C 2: 120,746,951 (GRCm39) D830G probably benign Het
Uqcc3 C T 19: 8,858,069 (GRCm39) probably null Het
Vmn2r26 T A 6: 124,002,938 (GRCm39) M116K probably benign Het
Zscan12 A G 13: 21,552,800 (GRCm39) Q208R 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
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-04-17