Incidental Mutation 'IGL00783:Nmt2'
ID 277939
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nmt2
Ensembl Gene ENSMUSG00000026643
Gene Name N-myristoyltransferase 2
Synonyms hNMT-2, A930001K02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # IGL00783
Quality Score
Status
Chromosome 2
Chromosomal Location 3285249-3329914 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3315846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 279 (F279I)
Ref Sequence ENSEMBL: ENSMUSP00000100054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081932] [ENSMUST00000091504] [ENSMUST00000102989]
AlphaFold O70311
Predicted Effect probably damaging
Transcript: ENSMUST00000081932
AA Change: F310I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000080600
Gene: ENSMUSG00000026643
AA Change: F310I

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
low complexity region 46 58 N/A INTRINSIC
Pfam:NMT 170 327 1e-78 PFAM
Pfam:NMT_C 341 528 2.9e-83 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000091504
AA Change: F266I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000089085
Gene: ENSMUSG00000026643
AA Change: F266I

DomainStartEndE-ValueType
low complexity region 19 30 N/A INTRINSIC
Pfam:NMT 124 283 2e-84 PFAM
Pfam:NMT_C 297 484 1.4e-87 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102989
AA Change: F279I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100054
Gene: ENSMUSG00000026643
AA Change: F279I

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
low complexity region 46 58 N/A INTRINSIC
Pfam:NMT 137 296 7.8e-85 PFAM
Pfam:NMT_C 310 497 6.4e-88 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two N-myristoyltransferase proteins. N-terminal myristoylation is a lipid modification that is involved in regulating the function and localization of signaling proteins. The encoded protein catalyzes the addition of a myristoyl group to the N-terminal glycine residue of many signaling proteins, including the human immunodeficiency virus type 1 (HIV-1) proteins, Gag and Nef. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: 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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031410I06Rik T C 5: 26,309,153 (GRCm39) R50G probably damaging Het
Arhgef33 A T 17: 80,675,659 (GRCm39) I403L probably benign Het
Cd4 A G 6: 124,849,952 (GRCm39) V121A possibly damaging Het
Dock10 A G 1: 80,550,166 (GRCm39) probably benign Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Hid1 A T 11: 115,239,336 (GRCm39) Y776N probably damaging Het
Hnrnpl T C 7: 28,520,067 (GRCm39) F482L probably benign Het
Ift122 T A 6: 115,882,863 (GRCm39) H659Q probably benign Het
Igsf3 A G 3: 101,338,555 (GRCm39) R290G probably damaging Het
Jhy T C 9: 40,834,048 (GRCm39) T291A probably benign Het
Kmt2e A G 5: 23,697,356 (GRCm39) I605V probably damaging Het
Nup93 G A 8: 95,035,651 (GRCm39) probably null Het
Oas2 A G 5: 120,876,428 (GRCm39) F15S probably damaging Het
Pecam1 T C 11: 106,590,624 (GRCm39) D22G probably damaging Het
Pold2 T C 11: 5,822,412 (GRCm39) E419G probably benign Het
Rassf3 T C 10: 121,251,985 (GRCm39) H142R probably benign Het
Rp2 T A X: 20,243,408 (GRCm39) C128S probably damaging Het
Scn7a T G 2: 66,522,908 (GRCm39) E932A probably damaging Het
Sis T C 3: 72,853,965 (GRCm39) H504R probably benign Het
Syce1l A G 8: 114,379,494 (GRCm39) D120G probably benign Het
Tns4 A G 11: 98,961,221 (GRCm39) probably benign Het
Unc80 G A 1: 66,647,596 (GRCm39) G1512E probably benign Het
Other mutations in Nmt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00784:Nmt2 APN 2 3,315,846 (GRCm39) missense probably damaging 1.00
IGL01871:Nmt2 APN 2 3,313,711 (GRCm39) missense probably damaging 1.00
IGL02617:Nmt2 APN 2 3,315,750 (GRCm39) missense probably benign 0.15
Faul UTSW 2 3,306,341 (GRCm39) splice site probably null
ANU05:Nmt2 UTSW 2 3,315,731 (GRCm39) missense probably benign
R0278:Nmt2 UTSW 2 3,326,424 (GRCm39) missense probably benign 0.00
R0524:Nmt2 UTSW 2 3,306,474 (GRCm39) missense probably benign
R0743:Nmt2 UTSW 2 3,315,822 (GRCm39) nonsense probably null
R0884:Nmt2 UTSW 2 3,315,822 (GRCm39) nonsense probably null
R1895:Nmt2 UTSW 2 3,323,672 (GRCm39) missense probably benign 0.11
R1946:Nmt2 UTSW 2 3,323,672 (GRCm39) missense probably benign 0.11
R1957:Nmt2 UTSW 2 3,326,419 (GRCm39) missense possibly damaging 0.95
R2037:Nmt2 UTSW 2 3,310,618 (GRCm39) missense probably damaging 1.00
R2656:Nmt2 UTSW 2 3,308,050 (GRCm39) missense probably benign
R3422:Nmt2 UTSW 2 3,285,425 (GRCm39) missense possibly damaging 0.82
R3835:Nmt2 UTSW 2 3,315,723 (GRCm39) splice site probably benign
R3955:Nmt2 UTSW 2 3,313,535 (GRCm39) missense probably benign 0.00
R4701:Nmt2 UTSW 2 3,323,678 (GRCm39) missense probably benign
R5032:Nmt2 UTSW 2 3,285,429 (GRCm39) missense probably benign
R6373:Nmt2 UTSW 2 3,325,988 (GRCm39) missense probably benign 0.05
R6396:Nmt2 UTSW 2 3,315,738 (GRCm39) missense probably benign 0.18
R6410:Nmt2 UTSW 2 3,317,215 (GRCm39) missense probably damaging 1.00
R6863:Nmt2 UTSW 2 3,306,341 (GRCm39) splice site probably null
R6865:Nmt2 UTSW 2 3,315,766 (GRCm39) missense probably damaging 1.00
R7100:Nmt2 UTSW 2 3,313,950 (GRCm39) missense probably benign
R7139:Nmt2 UTSW 2 3,285,352 (GRCm39) missense probably benign 0.01
R7516:Nmt2 UTSW 2 3,313,767 (GRCm39) missense probably damaging 1.00
R9098:Nmt2 UTSW 2 3,306,315 (GRCm39) intron probably benign
R9581:Nmt2 UTSW 2 3,317,212 (GRCm39) missense possibly damaging 0.80
X0067:Nmt2 UTSW 2 3,325,998 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16