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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |