Incidental Mutation 'IGL01871:Nmt2'
ID 178707
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 # IGL01871
Quality Score
Status
Chromosome 2
Chromosomal Location 3285249-3329914 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3313711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 175 (Y175H)
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: Y206H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080600
Gene: ENSMUSG00000026643
AA Change: Y206H

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: Y162H

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000089085
Gene: ENSMUSG00000026643
AA Change: Y162H

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: Y175H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100054
Gene: ENSMUSG00000026643
AA Change: Y175H

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,620,513 (GRCm39) probably null Het
Aqp7 G A 4: 41,045,321 (GRCm39) R20* probably null Het
Asxl2 G T 12: 3,552,112 (GRCm39) V1285L probably benign Het
Bdp1 A T 13: 100,202,561 (GRCm39) S688T probably benign Het
Cc2d2a A T 5: 43,846,311 (GRCm39) I357F probably damaging Het
Clasp1 A T 1: 118,498,619 (GRCm39) I884F probably damaging Het
Cpne4 T G 9: 104,802,956 (GRCm39) M200R possibly damaging Het
Cyp2d10 T A 15: 82,288,086 (GRCm39) D180V probably damaging Het
Dicer1 A T 12: 104,670,439 (GRCm39) V1042D probably damaging Het
Dlc1 G A 8: 37,317,334 (GRCm39) T447I probably damaging Het
Efl1 T C 7: 82,412,527 (GRCm39) M972T possibly damaging Het
Erbin A G 13: 103,971,274 (GRCm39) S781P probably damaging Het
Galnt4 G A 10: 98,945,103 (GRCm39) G276D probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gmppa A G 1: 75,413,661 (GRCm39) I41V probably damaging Het
Golga1 C T 2: 38,940,210 (GRCm39) probably benign Het
H2-Ob G T 17: 34,461,519 (GRCm39) W86L probably damaging Het
Hnrnpr G A 4: 136,066,885 (GRCm39) R482H unknown Het
L2hgdh T C 12: 69,768,869 (GRCm39) E81G probably damaging Het
Mre11a T C 9: 14,723,193 (GRCm39) V389A possibly damaging Het
Mxra8 A G 4: 155,927,258 (GRCm39) T372A probably benign Het
Ncapg T A 5: 45,845,923 (GRCm39) S593R probably benign Het
Ndufaf1 C T 2: 119,488,768 (GRCm39) W250* probably null Het
Neb T C 2: 52,043,081 (GRCm39) E6783G probably damaging Het
Olfml2b T C 1: 170,489,924 (GRCm39) probably benign Het
Pitpnm3 T A 11: 71,946,964 (GRCm39) M812L probably damaging Het
Pou2f3 A G 9: 43,045,768 (GRCm39) probably benign Het
Prkdc A G 16: 15,600,951 (GRCm39) T2871A probably benign Het
Rapgef4 A G 2: 72,028,704 (GRCm39) T392A possibly damaging Het
Rhov G T 2: 119,101,219 (GRCm39) Q71K probably benign Het
Slc22a15 T C 3: 101,768,110 (GRCm39) probably benign Het
Spaca1 T A 4: 34,040,894 (GRCm39) N22Y probably damaging Het
Stmnd1 A G 13: 46,443,189 (GRCm39) E107G probably damaging Het
Tent5b A G 4: 133,213,620 (GRCm39) I164V possibly damaging Het
Timm22 T C 11: 76,298,263 (GRCm39) V78A probably damaging Het
Usp47 T C 7: 111,676,993 (GRCm39) probably benign Het
Utp4 A C 8: 107,638,949 (GRCm39) K419T probably benign Het
Zfp410 T C 12: 84,372,565 (GRCm39) probably null Het
Other mutations in Nmt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00783:Nmt2 APN 2 3,315,846 (GRCm39) missense probably damaging 1.00
IGL00784:Nmt2 APN 2 3,315,846 (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 2014-05-07